8 research outputs found
Evaluation of appendicitis risk prediction models in adults with suspected appendicitis
- Author
- Abbas Sh
- Abbas Sh
- Abbassi Oa
- Abbott T
- Abdelgadir Am
- Abdelrahman A
- Abdelrahman M
- Abdelrahman M
- Abdelwahed A
- Abellan M
- Abellán Am
- Abellán Am
- Abulafi M
- Acharya A
- Acosta A
- Adam Me
- Adams Re
- Adegbola So
- Adegbola So
- Adimonye A
- Adnan M
- Afshar S
- Agresta F
- Agua Ia
- Aguayo Jl
- Agudo Ar
- Ahad A
- Ahel J
- Ahern Dp
- Ahmad A
- Ahmed B
- Ahmed G
- Ahmed Os
- Ahmed Os
- Ahmed S
- Ainsworth P
- Ais G
- Ais G
- Aisoni F
- Akbari K
- Akhtar K
- Akinsola O
- Akram F
- Al-Faham Z
- Al-Khafaji N
- Al-Khyatt W
- Al-Musawi S
- Al-Sarireh B
- Al-Sheikh M
- Alagna V
- Alani M
- Alberca-Paramo A
- Aldrey I
- Alexander R
- Alhammali T
- Alhammali T
- Ali M
- Aljorfi A
- Allen M
- Allington J
- Alonzo A
- Alshafei A
- Altomare Ma
- Alvarez Cm
- Alvarez E
- Alvarez-Gallego M
- Amaducci E
- Amarasinghe R
- Amayo A
- Ambrona-Zafra D
- Amin V
- Ammendola M
- Amtul N
- Amtul N
- Amuthalingam T
- Anandan L
- Anania G
- Anania M
- Anderson Dj
- Anderson O
- Andolfi E
- Andreani Sm
- Andreani Sm
- Andrews B
- Ang A
- Ang A
- Angelieri D
- Angelini M
- Angrisani M
- Anguita F
- Ansaloni L
- Ansari A
- Aravind B
- Archer Je
- Arcuri Ga
- Arcuri Ga
- Aremu Ma
- Arenal-Vera Jj
- Aresu S
- Aresu S
- Argenio G
- Argenti F
- Armellini A
- Arnau M
- Arredondo J
- Arroyo A
- Arshad F
- Arunachalam S
- Arunachalam S
- Arunachalam S
- Aruparayil N
- Asensio-Gomez L
- Ashmore Dl
- Ashmore Dl
- Ashour O
- Ashraf N
- Asmadi Aa
- Assaf N
- Assaf N
- Assaf N
- Athersmith Mj
- Atzeni J
- Avalapati H
- Avanzolini A
- Avanzolini A
- Awokoya Oo
- Ayllón-Gámez S
- Ayube-Brown J
- Azabdaftari A
- Azevedo J
- Azevedo Jm
- Baddams Ts
- Badenoch T
- Badii B
- Badran A
- Baeza-Murcia M
- Bagga R
- Baginski A
- Bailey Ja
- Bailey S
- Bailey S
- Bailon-Cuadrado M
- Baird C
- Bairos F
- Baker B
- Balai Ej
- Balasubramaniam A
- Balestra F
- Ball A
- Ball A
- Ball A.
- Ballabio M
- Ballester Mm
- Bandyopadhyay Sk
- Banks A
- Bansal H
- Baraghini M
- Barbosa L
- Barker T
- Barker T
- Barnieh W
- Baronio G
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- Barrie A
- Barter Ca
- Bartoli A
- Bascuas-Rodrigo B
- Baseggio M
- Bastianpillai J
- Bawa S
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- Bazán-Hinojo Mc
- Bazán-Hinojo Mc
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- Bedoya S
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- Beltran-De-Heredia J
- Beltran-De-Heredia J
- Belvedere A
- Benevento A
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- Bernal-Sprekelsen Jc
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- Bevan Ke
- Bevan V
- Beverstock A
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- Bhanderi S
- Bhanderi S
- Bhanderi S
- Bhanderi S.
- Bhangu A. Nepogodiev D
- Bhangu A
- Bhangu A
- Bhangu A
- Bhangu A
- Bhargava A
- Biancafarina A
- Biancafarina A
- Bianchi Cl
- Bianchi Cl
- Bianco A
- Bilku D
- Birindelli A
- Birindelli A
- Birindelli A
- Blackford Od
- Blackwell J
- Blake L
- Blanco F
- Blanco-Colino R
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- Blazeby Jm
- Blencowe N. S.
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- Boddy Ap
- Boereboom C
- Bogdan M
- Bohra P
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- Boland M
- Bolger Jc
- Bolger Jc
- Bolton W
- Bolzon S
- Bond S
- Bond-Smith G
- Bondurri A
- Bonfante P
- Bonomo M
- Borg Cm
- Borges Fc
- Borghi F
- Borghol K
- Boshier Pr
- Botelho P
- Bowen J
- Bowerman H
- Bowley D
- Bowman Cr
- Bowman Cr
- Boyd-Carson H
- Boza K
- Bradshaw Cj
- Branagan G
- Bravo-Gutiérrez Af
- Bravo-Gutiérrez Af
- Brennan S
- Brett M
- Brewer H
- Brewer Hk
- Brewer Hk
- Brews R
- Brien Jo
- Bronder C
- Brown A
- Brown Ag
- Brown Ce
- Brown Ce
- Brown Ce
- Brown M
- Brown M
- Brown Od
- Brown R
- Bruce Js
- Brunelli Db
- Bryan Es
- Buckley-Jones S
- Bukhari W
- Bull C
- Bullivant Jk
- Burke J
- Burns Km
- Burnside D
- Busuttil A
- Byrne Be
- Byrnes Ck
- Caballero A
- Caldeira Ab
- Caldwell M
- Callan R
- Calussi M
- Calvo H
- Calvo M
- Cameron Fc
- Campagnaro T
- Campagnaro T
- Campbell U
- Campbell Um
- Campbell W
- Cannata G
- Cannavò M
- Cantafio S
- Capelli P
- Carcoforo P
- Carden Ca
- Carder C
- Cardona R
- Cardoso D
- Carlucci M
- Carney K
- Caro A
- Carral-Freire M
- Carrano Fm
- Carrano Fm
- Cartwright H
- Carvalho Lc
- Carvalho N
- Casimiro C
- Castagnoli G
- Castagnoli G
- Caula C
- Caula C
- Cavallo D
- Cavero A
- Cay P
- Ceccarelli G
- Cerdán-Santacruz C
- Cerdán-Santacruz C
- Cerdán-Santacruz C
- Cerdán-Santacruz C
- Cervellera M
- Cesari Mc
- Chalk A
- Chambers B
- Chan D
- Chan T
- Chan Wh
- Chandler Sb
- Chandratreya N
- Chandratreya N
- Chapman J
- Chapman Sj
- Chapple Ks
- Charalabopoulos A
- Charalambous Mp
- Chasty B
- Chatzikonstantinou M
- Chatzikonstantinou M
- Chauhan P
- Chauhan P
- Chauhan P.
- Cheah Wl
- Chean Cs
- Chean Cs
- Checcacci P
- Cheng Sa
- Cheruvu M
- Chessa A
- Chessa A
- Chetta G
- Chetta N
- Chianese G
- Chillitupa Cz
- Chimetto A
- Chin My
- Chishti Ia
- Chitsabesan P
- Chng S
- Choi S
- Chok Sm
- Chok Sm
- Chong B
- Choolani-Bhojwani E
- Choong Jh
- Choong Jh
- Choong Jh
- Chowdhary M
- Chowdhury F
- Chowdhury F
- Choy Ch
- Choy Ch
- Chrastek D
- Christian L
- Christides A
- Christopoulos P
- Chudek D
- Chui K
- Cianchi F
- Cidoncha A
- Cillara N
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- Cillara N
- Cipparrone M
- Cirillo B
- Clark Gl
- Clark S
- Clement Kd
- Clement Kd
- Clements B
- Clements C
- Clements J
- Clements J.
- Clements Ja
- Clements Jd
- Clements Jm
- Clements Jm
- Clements Js
- Clerici F
- Clingan R
- Cloney L
- Clough E
- Coccolini F
- Coccolini F
- Cocorullo G
- Coe Po
- Cohen Ja
- Colangelo E
- Coletta D
- Coletta D
- Coletti M
- Collado-Roura F
- Collier-Wakefield O
- Colombo F
- Colombo F
- Colvin Da
- Colvin Da
- Compagnoni B
- Conci S
- Connelly Tm
- Connor Kl
- Connor Kl
- Connor Mj
- Connor Mj
- Conti D
- Contine Ac
- Contreras Rg
- Contreras-Saiz E
- Cook V
- Cooke F
- Coppola M
- Coratti F
- Corbellini C
- Cordoba E
- Cordoba E
- Cormenzana Ob
- Correia D
- Correia J
- Cortés Gv
- Cosci M
- Cossu F
- Costa Sd
- Costamagna D
- Cotton Ae
- Couch Dg
- Cousins L
- Couso Jr
- Cox M
- Coyle D
- Creasy W
- Cremades P
- Criado Adc
- Crone A
- Crozier J
- Cruccu A
- Cruickshank N
- Cuadrado Mm
- Cucinotta E
- Cuello-Guzmán E
- Cunha P
- Currow C
- Curti R
- Curtis Nj
- Curtis-Martínez C
- Cynthia G
- Cánovas-Moreno G
- D'Ambra L
- D'Amico Fe
- D'Amico Fe
- D'Amico Fe
- D'Auria M
- D'Auria M
- D'Souza N
- Daga O
- Dalmia S
- Dandy R
- Daniels I
- Danquah-Boateng D
- Dar Fa
- Dar Fa
- Dart K
- Das A
- Daureeawoo R
- Davidson Jr
- Davidson S
- Davies Pl
- Davis S
- De Andres U
- De Burgos Cb
- De Chaves-Rodríguez Pg
- De Freitas S
- De Luca E
- De Marchi F
- De Marco P
- De Nardi P
- De Nardi P
- De Nisco C
- De Padua C
- De Prizio M
- De-La-Herranz-Guerrero P
- De-Manzoni-Garberini A
- De-Manzoni-Garberini A
- De-Manzoni-Garberini A
- De-Marchi Ja
- De-Marchi Ja
- De-Soto-Cardenal B
- Dean Ea
- Dean S
- Del Basso C
- Del Pozo E
- Del-Valle-Ruiz Sr
- Delgado-Plasencia Lj
- Delimpalta C
- Delimpalta C
- Delogu D
- Denley S
- Dennison G
- Depalma N
- Deserra A
- Desiderio J
- Devezas V
- Devine Aa
- Dhar M
- Dharamavaram S
- Dhari Aa
- Dhesi S
- Di Cintio A
- Di Franco F
- Di Gioia P
- Di Saverio S
- Di Zitti L
- Diaz A
- Dickson Ea
- Divekar Ga
- Dixon F
- Dobbs S
- Dobson C
- Docherty Ja
- Doherty C
- Dominguez-Sanchez C
- Donaldson G
- Donaldson G
- Donohoe No
- Donohoe No
- Douka E
- Doulias T
- Dova L
- Downey M
- Doyle C
- Doyle C
- Drake T. M.
- Drake Tm
- Drye N
- Du Dt
- Dubois As
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- Dudek Jg
- Dujovne P
- Dujovne P
- Dunning Pg
- Duran-Muñoz-Cruzado Vm.
- Durbacz M
- Dyal A
- Dyson S
- Díaz-Vico T
- Eardley Nj
- Earnshaw L
- Easdon S
- Ebied H
- Echazarreta E
- Edwards Se
- Egan Rj
- Egan Rj
- Eguaras I
- Eiben I
- Eiben Ie
- Eiben P
- El-Masry S
- El-Tayar O
- El-Tayar O
- Elbetti C
- Elgaddal S
- Elia M
- Ellis B
- Elseedawy M
- Elshaer M
- Elshaer M
- Emslie Km
- Engall N
- Engall N
- Engall N
- English Wj
- Ercolani G
- Erdas E
- Erdas E
- Eretta Co
- Escoll-Rufino J
- Escuder J
- Esmail Hd
- Espin-Basany E
- Espin-Basany E
- Espina B
- Espinosa J
- Esteves Mb
- Ettles C
- Evans J
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- Everden A
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- Ezerska E
- Fadel M
- Fahmy Se
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- Fairfield Cj
- Falaschi F
- Falco N
- Fanibi Bf
- Fareleira A
- Farhan-Alanie M
- Farina V
- Faris Ar
- Farrell Sm
- Farrow Ez
- Farrow Ez
- Farrés R
- Fasuyi Ja
- Faulkner G
- Fawzi F
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- Feleppa C
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- Ferguson N
- Fermiñán A
- Fernandes C
- Fernández Ec
- Fernández Md
- Fernández-Candela A
- Fernández-Martínez D
- Fernández-Martínez D
- Fernández-Martínez D
- Feroci F
- Ferrara F
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- Ferrer-Vilela I
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- Finch Jg
- Finlayson H
- Finotti E
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- Fiorot A
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- Fleming Ta
- Fleres F
- Foers W
- Foley Nm
- Foley Nm
- Fontaine C
- Fontana T
- Fontani A
- Fooks P
- Foppa C
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- Forouzanfar A
- Foschi D
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- Franco M
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- Franklin D
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- García M
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- García Na
- García V
- García-Carrero M
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- García-Granero A
- García-Granero A
- García-Gutierrez C
- García-Novoa A
- García-Novoa A
- García-Pérez Jm
- García-Rivera Co
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- Ghatorae S
- Ghazala R
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- Giraudo G
- Giubilo C
- Giudicissi R
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- Glasbey Jc
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- Golda T
- Golder Am
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- Gomez-Carmona Z
- Gomez-Facundo H
- Gomez-Rosado Jc
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- Gonzálvez-Guardiola P
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- Grandi S
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- Graveston J
- Graveston J
- Gray J
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- Griffith D
- Griffith Jp
- Griffiths E
- Griffiths Ea
- Griffiths Np
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- Griggs R
- Grimaldo Eg
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- Gurung S
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- Haines S
- Hajibandeh S
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- Hamelmann Rn
- Hanif Z
- Hanley C
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- Hanna T
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- Hill J
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- Hollyman M
- Hollyman M
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- Horsfield E
- Howie Ee
- Hraishawi I
- Huang J
- Hudson-Peacock Nj
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- Hunter I
- Hureibi Ka
- Hureibi Ka
- Hussain A
- Hussain N
- Hussaini Sa
- Hussein A
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- Hutchinson B
- Iannone I
- Ibrahim Y
- Ikram S
- Ilozue T
- Imperatore M
- Inama M
- Inama M
- Infante H
- Iosif E
- Iqbal Mr
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- Irukulla S
- Irwin R
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- Islam N
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- Issa E
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- Ivey P
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- Julià D
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- Keegan R
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- Kirkham En
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- Kouroumpas E
- Krishnamoorthy A
- Krivan S
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- Ladwa N
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- Lara Mc
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- Lorettu A
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- Louw C
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- Ly C
- Lynch L
- Lyons A
- López Af
- Ma J
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- Macleod C
- Maderuelo Vm
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- Malam Y
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- Malik Sn
- Malik Y
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- Maqboul F
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- Marangoni G
- Marano A
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- Maretto I
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- Zhang Ay
- Zhou S
- Zorrilla L
- Zuin M
- Zurleni Tz
- Publication venue
- 'Wiley'
- Publication date
- 01/01/2019
- Field of study
Background
Appendicitis is the most common general surgical emergency worldwide, but its diagnosis remains challenging. The aim of this study was to determine whether existing risk prediction models can reliably identify patients presenting to hospital in the UK with acute right iliac fossa (RIF) pain who are at low risk of appendicitis.
Methods
A systematic search was completed to identify all existing appendicitis risk prediction models. Models were validated using UK data from an international prospective cohort study that captured consecutive patients aged 16–45 years presenting to hospital with acute RIF in March to June 2017. The main outcome was best achievable model specificity (proportion of patients who did not have appendicitis correctly classified as low risk) whilst maintaining a failure rate below 5 per cent (proportion of patients identified as low risk who actually had appendicitis).
Results
Some 5345 patients across 154 UK hospitals were identified, of which two‐thirds (3613 of 5345, 67·6 per cent) were women. Women were more than twice as likely to undergo surgery with removal of a histologically normal appendix (272 of 964, 28·2 per cent) than men (120 of 993, 12·1 per cent) (relative risk 2·33, 95 per cent c.i. 1·92 to 2·84; P < 0·001). Of 15 validated risk prediction models, the Adult Appendicitis Score performed best (cut‐off score 8 or less, specificity 63·1 per cent, failure rate 3·7 per cent). The Appendicitis Inflammatory Response Score performed best for men (cut‐off score 2 or less, specificity 24·7 per cent, failure rate 2·4 per cent).
Conclusion
Women in the UK had a disproportionate risk of admission without surgical intervention and had high rates of normal appendicectomy. Risk prediction models to support shared decision‐making by identifying adults in the UK at low risk of appendicitis were identified
mTOR signaling in proteostasis and its relevance to autism spectrum disorders
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- Publication venue
- 'American Institute of Mathematical Sciences (AIMS)'
- Publication date
- 01/01/2017
- Field of study
Proteins are extremely labile cellular components, especially at physiological temperatures. The appropriate regulation of protein levels, or proteostasis, is essential for all cells. In the case of highly polarized cells like neurons, proteostasis is also crucial at synapses, where quick confined changes in protein composition occur to support synaptic activity and plasticity. The accurate regulation of those cellular processes controlling protein synthesis and degradation is necessary for proteostasis, and its deregulation has deleterious consequences in brain function. Alterations in those cellular mechanisms supporting synaptic protein homeostasis have been pinpointed in autism spectrum disorders such as tuberous sclerosis, neurofibromatosis 1, PTEN-related disorders, fragile X syndrome, MECP2 disorders and Angelman syndrome. Proteostasis alterations in these disorders share the alterations in mechanistic/mammalian target of rapamycin (mTOR) signaling pathway, an intracellular pathway with key synaptic roles. The aim of the present review is to describe the recent literature on the major cellular mechanisms involved in proteostasis regulation in the synaptic context, and its association with mTOR signaling deregulations in various autism spectrum disorders. Altogether, the cellular and molecular mechanisms in synaptic proteostasis could be the foundation for novel shared therapeutic strategies that would take advantage of targeting common disorder mechanisms.This review was supported by grant BFU2015-68568-P (MINECO/FEDER, EU) to AO
ESR of Iron Proteins
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- A Abragam
- A Araiso
- A Arnone
- A Carnevale
- A Chanutin
- A Deisseroth
- A Deisseroth
- A Ehrenberg
- A Ehrenberg
- A Ehrenberg
- A Huberman
- A Ishimaru
- A Jacobs
- A Lamir
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- A Puppo
- A Salahuddin
- A Shaffermann
- A Szabo
- A Szabo
- A Tomada
- A Trautwein
- AFW Coulson
- AFW Coulson
- AJ Thomson
- AL Slade
- AM Nigen
- AR Mcintosh
- ARJ Bakkenist
- AS Brill
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- B Bleaney
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- B Chance
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- B Seamonds
- B Seamonds
- BA Conen
- BA Wittenberg
- BAC Ackrell
- BB Aggarwal
- BC Saunders
- BH Huynth
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- BW Harding
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- 'Springer Science and Business Media LLC'
- Publication date
- 01/01/1980
- Field of study
Listing of Protein Spectra
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- YA Sharonov
- YA Sharonov
- YA Sharonov
- YE Erokhin
- YJ Kang
- YK Turakulov
- YK Turakulov
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- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- 01/01/1984
- Field of study
Beam Energy and Centrality Dependence of Direct-Photon Emission from Ultrarelativistic Heavy-Ion Collisions
- Author
- Adare A
- Afanasiev S
- Aidala C
- Ajitanand NN
- Akiba Y
- Akimoto R
- Al-Bataineh H
- Al-Jamel A
- Al-Ta'ani H
- Alexander J
- Alfred M
- Angerami A
- Aoki K
- Apadula N
- Aphecetche L
- Aramaki Y
- Armendariz R
- Aronson SH
- Asai J
- Asano H
- Aschenauer EC
- Atomssa ET
- Averbeck R
- Awes TC
- Azmoun B
- Babintsev V
- Bagoly A
- Bai M
- Baksay G
- Baksay L
- Baldisseri A
- Bannier B
- Barish KN
- Barnes PD
- Bassalleck B
- Basye AT
- Bathe S
- Batsouli S
- Baublis V
- Bauer F
- Baumann C
- Baumgart S
- Bazilevsky A
- Belikov S
- Belmont R
- Bennett R
- Berdnikov A
- Berdnikov Y
- Bhom JH
- Bickley AA
- Bjorndal MT
- Blau DS
- Boer M
- Boissevain JG
- Bok JS
- Borel H
- Boyle K
- Brooks ML
- Brown DS
- Bryslawskyj J
- Bucher D
- Buesching H
- Bumazhnov V
- Bunce G
- Burward-Hoy JM
- Butsyk S
- Camacho CM
- Campbell S
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- Caringi A
- Castera P
- Chai J-S
- Chang BS
- Chang WC
- Charvet J-L
- Chen C-H
- Chernichenko S
- Chi CY
- Chiba J
- Chiu M
- Choi IJ
- Choi JB
- Choi S
- Choudhury RK
- Christiansen P
- Chujo T
- Chung P
- Churyn A
- Chvala O
- Cianciolo V
- Citron Z
- Cleven CR
- Cobigo Y
- Cole BA
- Comets MP
- Conesa Del Valle Z
- Connors M
- Constantin P
- Csanád M
- Csörgő T
- d'Enterria D
- D'Orazio L
- Dahms T
- Dairaku S
- Danchev I
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- PHENIX Collaboration
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- van Hecke HW
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- Watanabe D
- Watanabe K
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- Wysocki M
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- Yamaguchi YL
- Yamaura K
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- Yasin Z
- Ying J
- Yokkaichi S
- Yoo JH
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- Young GR
- Younus I
- Yu H
- Yushmanov IE
- Zajc WA
- Zaudtke O
- Zelenski A
- Zhang C
- Zharko S
- Zhou S
- Zimamyi J
- Zolin L
- Zou L
- Publication venue
- 'American Physical Society (APS)'
- Publication date
- 01/01/2019
- Field of study
International audienceThe PHENIX collaboration presents first measurements of low-momentum (0.41 GeV/c) direct-photon yield dNγdir/dη is a smooth function of dNch/dη and can be well described as proportional to (dNch/dη)α with α≈1.25. This scaling behavior holds for a wide range of beam energies at the Relativistic Heavy Ion Collider and the Large Hadron Collider, for centrality selected samples, as well as for different A+A collision systems. At a given beam energy, the scaling also holds for high pT (>5 GeV/c), but when results from different collision energies are compared, an additional sNN-dependent multiplicative factor is needed to describe the integrated-direct-photon yield
A second update on mapping the human genetic architecture of COVID-19
- Author
- Abd Elghafar MS
- Abdel-Aziz M
- Abdelrazik M
- Abdullah MS
- Abe R
- Abe S
- Abel L
- Abel L
- Abernathy C
- Abraham R
- Abraheem A
- Abu Alragheb BO
- Abulail JA
- Acklery A
- Acosta-Herrera M
- Adachi T
- Adachi Y
- Adam R
- Adams C
- Adams K
- Adams N
- Adanini O
- Afifi N
- Afilalo J
- Afilalo M
- Afolabi D
- Afrasiabi Z
- Afset JE
- Agasou A
- Aghemo A
- Agravante K
- Agrawal A
- Agrawal S
- Aguado JM
- Aguilar C
- Aguilar SEV
- Aguilar-Salinas CA
- Aguilera-Albesa S
- Agüero D
- Ahmad HF
- Ahmad N
- Ahmadhaider N
- Ahmed A
- Ahmed C
- Ahram M
- Ai M
- Ain Q
- Aitkin E
- Akeroyd L
- Akhtar MN
- Akinkugbe O
- Al-Ani A
- Al-Ja’afreh MM
- Al-Kadash A
- Al-Kasasbeh MM
- Al-Moasseb H
- Al-Muftah W
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- Moncur E
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- Montgomery H
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- Moore F
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- Morales-Sosa PA
- Morano EMH
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- Muñóz-Hernández LL
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- Ortega-Paino E
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- Wittig M
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- Wolford BN
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- Wyllie DH
- Wynter I
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- Xue X
- Yagi K
- Yamada M
- Yamada Y
- Yamagata K
- Yamasaki M
- Yang J
- Yaspan B
- Yassen AM
- Yasui Y
- Yates B
- Yatomi M
- Ye C
- Yermakovich D
- Yeung RSM
- Yi X
- Yonekawa A
- Yoo S
- Yoon K
- Yoshida K
- Yoshida S
- Yoshida S
- Yoshida T
- Yoshihara T
- Yoshiya K
- Yoshiyama T
- Young M
- Yue F
- Yun N
- Yáñez CE
- Yáñez Z
- Zainulabid UA
- Zainy T
- Zak A
- Zaki A
- Zamikula J
- Zamudio IPM
- Zanella A
- Zapata-Contreras D
- Zapatamartinez M
- Zarate R
- Zarei N
- Zavaleta DAF
- Zawadzki P
- Zawati MH
- Zborowski AC
- Zeberg H
- Zechner M
- Zhang Q
- Zhao X
- Zheng C
- Zheng T
- Zhlawi HJ
- Zhlawi MWJ
- Zholdybayeva E
- Zhou W
- Zhu W
- Zitter L
- Zoller H
- Zongo O
- Zorloni C
- Zuñiga-Pacheco P
- Zárate RN
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- Álvarez BG
- Ávila-Arcos MA
- Ávila-Arcos MC
- Özer O
- Überla K
- Þorsteinsdóttir U
- Publication venue
- Nature Research
- Publication date
- 21/06/2023
- Field of study
Mapping the human genetic architecture of COVID-19
- Author
- Abdelrazik M
- Abdullah T
- Abe R
- Abe S
- Abecasis GR
- Abel L
- Abernathy C
- Abraheem A
- Abul-Husn NS
- Acosta-Herrera M
- Acquilini D
- Acquilini D
- Adachi T
- Adachi Y
- Adams C
- Adams K
- Adanini O
- Adeleye O
- Adeniji K
- Adra D
- Afifi N
- Afilalo J
- Afilalo M
- Afolabi D
- Afrasiabi Z
- Afset JE
- Agasou A
- Aghemo A
- Agranoff D
- Agrawal S
- Aguirre LA
- Agwuh K
- Ahmad HF
- Ahmad N
- Ahmed A
- Ahmed C
- Ahmed KA
- Ai M
- Ail D
- Akeroyd L
- Akhtar MN
- Akhtar S
- Akinkugbe O
- Aksentijevich A
- Al Thani A
- Al-Muftah W
- Al-Sarraj Y
- Alarcon C
- Alarcon-Riquelme ME
- Alasdair F
- Alaverdian D
- Alavere H
- Albertos R
- Albillos A
- Albrecht W
- Albrich W
- Albrich WC
- Aldera EL
- Aldridge J
- Alegria A
- Alex B
- Alexander P
- Alfonso J
- Algera AG
- Ali A
- Ali IMA
- Ali S
- Aliberti S
- Allan A
- Allan E
- Allan J
- Alldis Z
- Allen L
- Allen S
- Allibone S
- Allison KS
- Allos R
- Ally SM
- Almaden-Boyle C
- Altabaibeh A
- Altmueller J
- Alvaro A
- Amar D
- Amin V
- Amitrano S
- Amiya S
- Ampuero J
- Anan R
- Anania S
- Anastasescu E
- Anderson F
- Anderson J
- Anderson M
- Anderson P
- Anderson S
- Anderson S
- Anderson T
- Ando A
- Andolfo I
- Andrade V
- Andretta F
- Andreucci E
- Andreucci E
- Andrew A
- Andrew B
- Andrew G
- Andrews E
- Andrews SJ
- Andrews SJ
- Andrews SJ
- Andrews SJ
- Andrikopoulos P
- Anedda F
- Aneli S
- Anemoli V
- Angelini C
- Angus B
- Annis A
- Antcliffe D
- Antinori A
- Antoni MD
- Anumakonda V
- Anwar M
- Anzai T
- Apetri E
- Arai D
- Arana E
- Arbane G
- Archer K
- Arciero E
- Arden T
- Arias SS
- Arif S
- Arimura K
- Armstrong J
- Armstrong JA
- Armstrong L
- Armstrong R
- Arning N
- Arnold S
- Arora J
- Artuso R
- Arumugam P
- Asakura T
- Asano K
- Aschard H
- Ascolillo S
- Ashish A
- Ashley E
- Ashraf S
- Ashraf S
- Ashton L
- Ashworth M
- Asiimwe IG
- Aslibekyan S
- Asselta R
- Atanasovska B
- Atkinson D
- Atkinson EG
- Attwood B
- Aucella F
- Augustin M
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- Auld F
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- Awano N
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- Aziz F
- Azuma M
- Azuure C
- Azzolini E
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- Baba T
- Bach B
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- Badalamenti S
- Badia JR
- Badji RM
- Bahmer T
- Baikady RR
- Baillie JK
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- Bakthavatsalam D
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- Bandla N
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- Baptista D
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- Barbieri C
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- Beckmann ND
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- Belagodu Z
- Belbin GM
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- Below JE
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- Bergantini L
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- Bergomi P
- Berkowitz N
- Bernardo D
- Bernasconi A
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- Berridge J
- Bertrand A
- Best N
- Bettini LR
- Beudel M
- Bevan E
- Bewley J
- Bhardwaj N
- Bhatia N
- Bhatterjee R
- Bhuie P
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- Bianco C
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- Biggs H
- Biondi A
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- Bird S
- Birkinshaw I
- Birney E
- Birt M
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- Black E
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- Blackledge B
- Blackledge B
- Blackman H
- Blakemore H
- Blanco-Grau A
- Blasi F
- Blay N
- Blay N
- Blow S
- Blunt M
- Boada M
- Board S
- Bocciardi R
- Bocciolone M
- Bochud M
- Bochud P-Y
- Bochud PY
- Bochud PY
- Bochud PY
- Bociek A
- Boer C
- Boezen M
- Bogaard HJ
- Bogaert D
- Boillat N
- Boillat-Blanco N
- Bokhari M
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- Bolze A
- Bombace S
- Bomers M
- Bonfanti P
- Bonner S
- Bonta PI
- Booker L
- Booth L
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- Borislavova B
- Borra C
- Bos L
- Bosari S
- Bosio G
- Bosse Y
- Botello A
- Bothma P
- Botta G
- Botta M
- Boua PR
- Bouab M
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- Boughton AP
- Boujemla B
- Bouras K
- Boutros P
- Bouysran Y
- Bowes A
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- Bradshaw Z
- Brady A
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- Brandwood C
- Branney D
- Brantwood C
- Brassard N
- Braun A
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- Brayne A
- Brealey D
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- Breen G
- Bremmer P
- Brennan B
- Brenner B
- Brenner T
- Bretherick AD
- Brett M
- Brett S
- Brickell K
- Bridgett V
- Brimfield L
- Brinkworth E
- Briton K
- Brittain-Long R
- Britvan B
- Bromley M
- Brooke H
- Brooks S
- Brouwer MC
- Brown A
- Brown A
- Brown A
- Brown CW
- Brown E
- Brown J
- Bruce M
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- Brunton M
- Brusco A
- Bruttini M
- Bryant J
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- Buckley C
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- Bugiani M
- Bujanda L
- Bulik CM
- Bulle E
- Bullock K
- Bulteel N
- Bunni L
- Burda D
- Burden T
- Burn I
- Burnett C
- Burns K
- Burt K
- Burtenshaw A
- Burtenshaw A
- Burton M
- Busani S
- Busson A
- Bussotti M
- Bustamante C
- Butcher D
- Buti M
- Butler A
- Butler S
- Butler-Laporte G
- Butler-Laporte G
- Butler-Laporte G
- Butler-Laporte G
- Butte MJ
- Butterworth AS
- Butterworth-Cowin N
- Button H
- Buxbaum JD
- Buxbaum JD
- Buxbaum JD
- Byun J
- Caba Llero-Garralda A
- Cabrelli L
- Caceres M
- Cadilla CL
- Cagova L
- Caldarelli GP
- Calderon EJ
- Callaghan M
- Callier S
- Camby S
- Cameli P
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- Campbell H
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- Campbell R
- Campos S
- Camsooksai J
- Canaccini A
- Canakoglu A
- Cantarini L
- Cantor MN
- Capasso M
- Capitani K
- Cappadona C
- Cappelli S
- Capps N
- Carbral-Ortega L
- Cardamone G
- Carella M
- Carey DJ
- Carli D
- Carlucci N
- Carmody M
- Carmody S
- Carnahan M
- Carnero-Montoro E
- Carrabba M
- Carracedo AD
- Carreras Nolla A
- Carreras A
- Carriero ML
- Carson G
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- Carter S
- Carungcong J
- Caruth V
- Casey M
- Cass E
- Castano-Vinyals G
- Castelli F
- Castle K
- Castoldi M
- Castori M
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- Caswell M
- Catena E
- Caterson J
- Cathcart S
- Catlow L
- Catterall BWA
- Caulfield MJ
- Caulfield MJ
- Cavazza A
- Cawley K
- Cawthron K
- Cazzaniga M
- Cea C
- Cecconi M
- Ceri S
- Ceri S
- Ceriotti F
- Cerny A
- Cerrato L
- Chablani M
- Chadbourn I
- Chadwick D
- Chadwick D
- Chambler D
- Chan G
- Chan R
- Chand M
- Chandler B
- Chang D
- Chang TS
- Chang X
- Chang Y
- Chapman S
- Charles B
- Charlesworth R
- Charney AW
- Charnock R
- Chasse M
- Chassot J
- Chaudhary K
- Chavan S
- Chechi K
- Chee N
- Cheema Y
- Chen H-H
- Cheng N
- Cherian S
- Chernitsov A
- Cherubini A
- Chetam L
- Cheyne C
- Chiba S
- Chihara Y
- Child J
- Childs D
- Chittoor G
- Chiu A
- Cho JH
- Cho K
- Choe K-W
- Choi S
- Chouchane O
- Choudhury Y
- Chowdhury M
- Christle J
- Chubachi S
- Chueca N
- Chukkambotla S
- Chukkambotla S
- Chung R
- Chung W
- Churchhouse C
- Chwialkowska K
- Chwialkowska K
- Ciccarelli M
- Ciesek S
- Cirulli ET
- Claassen S
- Claire W
- Clamp S
- Clapham M
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- Clarinval M
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- Clark JJ
- Clark M
- Clark M
- Clark R
- Clark R
- Clark S
- Clark T
- Clark V
- Clarke D
- Clarke EA
- Clarke N
- Clarkson M
- Clayton S
- Clement I
- Clements S
- Clerc O
- Cloherty A
- Clohisey S
- Clohisey S
- Clohisey S
- Clohisey S
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- Cockrell M
- Coetzee S
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- Coignet M
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- Colombo F
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- Cordero AIH
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- Cordioli M
- Cordioli M
- Cordioli M
- Cordioli M
- Cordioli M
- Cornberg M
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- Cornely OA
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- Costantino G
- Cother N
- Coton Z
- Coulding M
- Coutts A
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- Coviello DA
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- Cutler S
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- D'Alessandro M
- D'Amato M
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- Da Gloria EF
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- Darwish D
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- Daubney E
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- Daya M
- de Brabander J
- de Bree G
- de Bruin S
- de Cid R
- de Cid R
- de Geus EJC
- de Gordoa LO-R
- de Gordoa LO-R
- De Grandi A
- de Jong H
- de Jong MD
- De la Horra C
- De Neef M
- de Pablo R
- de Rojas I
- de Salazar A
- de Silva T
- De Vivo O
- De Vivo O
- de Vries H
- Deacon B
- Deacon B
- Dearden J
- Death Y
- Deboever C
- Debreceni G
- Deelen P
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- Deery J
- Degenhardt F
- Dei S
- Dela Rosa A
- Delaneau O
- Delgado CC
- Delgado J
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- Dellot P
- Deloukas P
- Demetriou C
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- Depante M
- Dervisevic S
- Desanctis E
- Desgranges F
- deSouza F
- Di Angelantonio E
- di Bartolomeo C
- Di Biagio A
- Di Domenico P
- Di Pietro M
- Di Sarno L
- Di Valentin E
- Digby B
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- Domingues F
- Donaldson A
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- Donne B
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- Donohue C
- Dooks E
- Doonan R
- Dopazo X
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- Dudman S
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- Dunham I
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- Dunn C
- Dunning J
- DuRand I
- Durand M
- Durga L
- Durham C
- Durie A
- Durrans LJ
- Durrant G
- Dushianthan A
- Duskova M
- Dutta AK
- Dutta AK
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- Dyer P
- Dyer T
- Dykes J
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- Eapen B
- Earle SG
- Eastgate-Jackson C
- Easthope A
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- Espana PP
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- Farquhar F
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- Farzad Z
- Faucon A
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- Faverio P
- Fawkes A
- Fazaal J
- Fearby M
- Febbo P
- Fegan C
- Feldt T
- Felton T
- Feng Y-CA
- Ferguson S
- Feri M
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- Fernandez Z
- Fernandez-Cadenas I
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- Ferrando C
- Ferreira MAR
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- Ferri C
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- Ferwerda B
- FHoGID
- Fidler K
- Filipe ADS
- Filipe H
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- Yonekawa A
- Yoon H
- Yoon KJ
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- Yoshida S
- Yoshida T
- Yoshihara T
- Yoshiya K
- Yoshiyama T
- Youlton N
- Younes SE
- Young P
- Yun N
- Zak A
- Zaki A
- Zambon M
- Zamikula J
- Zanella A
- Zanella I
- Zanelli G
- Zara F
- Zara F
- Zarate R
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- Zborowski AC
- Zeberg H
- Zechner M
- Zechner M
- Zguro K
- Zhai R
- Zhang JE
- Zhang M
- Zhao JH
- Zhen J
- Zheng C
- Zheng T
- Zhou W
- Zhou W
- Zhu W
- Zitter L
- Zlatopolsky M
- Zoller H
- Zollner S
- Zongo O
- zu Bentrup FM
- Zucchi P
- Zwinderman AHK
- Zyndorf M
- Publication venue
- Publication date
- 01/01/2021
- Field of study
The genetic make-up of an individual contributes to the susceptibility and response to viral infection. Although environmental, clinical and social factors have a role in the chance of exposure to SARS-CoV-2 and the severity of COVID-191,2, host genetics may also be important. Identifying host-specific genetic factors may reveal biological mechanisms of therapeutic relevance and clarify causal relationships of modifiable environmental risk factors for SARS-CoV-2 infection and outcomes. We formed a global network of researchers to investigate the role of human genetics in SARS-CoV-2 infection and COVID-19 severity. Here we describe the results of three genome-wide association meta-analyses that consist of up to 49,562 patients with COVID-19 from 46 studies across 19 countries. We report 13 genome-wide significant loci that are associated with SARS-CoV-2 infection or severe manifestations of COVID-19. Several of these loci correspond to previously documented associations to lung or autoimmune and inflammatory diseases3,4,5,6,7. They also represent potentially actionable mechanisms in response to infection. Mendelian randomization analyses support a causal role for smoking and body-mass index for severe COVID-19 although not for type II diabetes. The identification of novel host genetic factors associated with COVID-19 was made possible by the community of human genetics researchers coming together to prioritize the sharing of data, results, resources and analytical frameworks. This working model of international collaboration underscores what is possible for future genetic discoveries in emerging pandemics, or indeed for any complex human disease
Recommended from our members
GWAS and meta-analysis identifies 49 genetic variants underlying critical COVID-19
- Author
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- Abedalthagafi M
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- Chisholm C
- Choudhr O
- Choudhury Y
- Chukkambotla S
- Chávez MEQ
- Cid-Lopez MA
- Cienfuegos-Jimenez O
- Cinquina Z
- Clamp S
- Clapham M
- Clarey E
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- Tsinaslanidis G
- Tucci A
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- Vuylsteke A
- Vélez-Santamaría V
- Víctor V
- Wackett T
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- Waite AAC
- Wakefield P
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- Íñiguez M
- Publication venue
- Springer Nature
- Publication date
- 17/05/2023
- Field of study
Data availability: Downloadable summary data are available through the GenOMICC data site (https://genomicc.org/data). Summary statistics are available, but without the 23andMe summary statistics, except for the 10,000 most significant hits, for which full summary statistics are available. The full GWAS summary statistics for the 23andMe discovery dataset will be made available through 23andMe to qualified researchers under an agreement with 23andMe that protects the privacy of the 23andMe participants. For further information and to apply for access to the data, see the 23andMe website (https://research.23andMe.com/dataset-access/). All individual-level genotype and whole-genome sequencing data (for both academic and commercial uses) can be accessed through the UKRI/HDR UK Outbreak Data Analysis Platform (https://odap.ac.uk). A restricted dataset for a subset of GenOMICC participants is also available through the Genomics England data service. Monocyte RNA-seq data are available under the title ‘Monocyte gene expression data’ within the Oxford University Research Archives (https://doi.org/10.5287/ora-ko7q2nq66). Sequencing data will be made freely available to organizations and researchers to conduct research in accordance with the UK Policy Framework for Health and Social Care Research through a data access agreement. Sequencing data have been deposited at the European Genome–Phenome Archive (EGA), which is hosted by the EBI and the CRG, under accession number EGAS00001007111.Extended data figures and tables are available online at https://www.nature.com/articles/s41586-023-06034-3#Sec21 .Supplementary information is available online at https://www.nature.com/articles/s41586-023-06034-3#Sec22 .Code availability:
Code to calculate the imputation of P values on the basis of SNPs in linkage disequilibrium is available at GitHub (https://github.com/baillielab/GenOMICC_GWAS).Acknowledgements: We thank the members of the Banco Nacional de ADN and the GRA@CE cohort group; and the research participants and employees of 23andMe for making this work possible. A full list of contributors who have provided data that were collated in the HGI project, including previous iterations, is available online (https://www.covid19hg.org/acknowledgements).Change history: 11 July 2023: A Correction to this paper has been published at: https://doi.org/10.1038/s41586-023-06383-z. -- In the version of this article initially published, the name of Ana Margarita Baldión-Elorza, of the SCOURGE Consortium, appeared incorrectly (as Ana María Baldion) and has now been amended in the HTML and PDF versions of the article.Copyright © The Author(s) 2023, Critical illness in COVID-19 is an extreme and clinically homogeneous disease phenotype that we have previously shown1 to be highly efficient for discovery of genetic associations2. Despite the advanced stage of illness at presentation, we have shown that host genetics in patients who are critically ill with COVID-19 can identify immunomodulatory therapies with strong beneficial effects in this group3. Here we analyse 24,202 cases of COVID-19 with critical illness comprising a combination of microarray genotype and whole-genome sequencing data from cases of critical illness in the international GenOMICC (11,440 cases) study, combined with other studies recruiting hospitalized patients with a strong focus on severe and critical disease: ISARIC4C (676 cases) and the SCOURGE consortium (5,934 cases). To put these results in the context of existing work, we conduct a meta-analysis of the new GenOMICC genome-wide association study (GWAS) results with previously published data. We find 49 genome-wide significant associations, of which 16 have not been reported previously. To investigate the therapeutic implications of these findings, we infer the structural consequences of protein-coding variants, and combine our GWAS results with gene expression data using a monocyte transcriptome-wide association study (TWAS) model, as well as gene and protein expression using Mendelian randomization. We identify potentially druggable targets in multiple systems, including inflammatory signalling (JAK1), monocyte–macrophage activation and endothelial permeability (PDE4A), immunometabolism (SLC2A5 and AK5), and host factors required for viral entry and replication (TMPRSS2 and RAB2A).GenOMICC was funded by Sepsis Research (the Fiona Elizabeth Agnew Trust), the Intensive Care Society, a Wellcome Trust Senior Research Fellowship (to J.K.B., 223164/Z/21/Z), the Department of Health and Social Care (DHSC), Illumina, LifeArc, the Medical Research Council, UKRI, a BBSRC Institute Program Support Grant to the Roslin Institute (BBS/E/D/20002172, BBS/E/D/10002070 and BBS/E/D/30002275) and UKRI grants MC_PC_20004, MC_PC_19025, MC_PC_1905 and MRNO2995X/1. A.D.B. acknowledges funding from the Wellcome PhD training fellowship for clinicians (204979/Z/16/Z), the Edinburgh Clinical Academic Track (ECAT) programme. This research is supported in part by the Data and Connectivity National Core Study, led by Health Data Research UK in partnership with the Office for National Statistics and funded by UK Research and Innovation (grant MC_PC_20029). Laboratory work was funded by a Wellcome Intermediate Clinical Fellowship to B.F. (201488/Z/16/Z). We acknowledge the staff at NHS Digital, Public Health England and the Intensive Care National Audit and Research Centre who provided clinical data on the participants; and the National Institute for Healthcare Research Clinical Research Network (NIHR CRN) and the Chief Scientist’s Office (Scotland), who facilitate recruitment into research studies in NHS hospitals, and to the global ISARIC and InFACT consortia. GenOMICC genotype controls were obtained using UK Biobank Resource under project 788 funded by Roslin Institute Strategic Programme Grants from the BBSRC (BBS/E/D/10002070 and BBS/E/D/30002275) and Health Data Research UK (HDR-9004 and HDR-9003). UK Biobank data were used in the GSMR analyses presented here under project 66982. The UK Biobank was established by the Wellcome Trust medical charity, Medical Research Council, Department of Health, Scottish Government and the Northwest Regional Development Agency. It has also had funding from the Welsh Assembly Government, British Heart Foundation and Diabetes UK. The work of L.K. was supported by an RCUK Innovation Fellowship from the National Productivity Investment Fund (MR/R026408/1). J.Y. is supported by the Westlake Education Foundation. SCOURGE is funded by the Instituto de Salud Carlos III (COV20_00622 to A.C., PI20/00876 to C.F.), European Union (ERDF) ‘A way of making Europe’, Fundación Amancio Ortega, Banco de Santander (to A.C.), Cabildo Insular de Tenerife (CGIEU0000219140 ‘Apuestas científicas del ITER para colaborar en la lucha contra la COVID-19’ to C.F.) and Fundación Canaria Instituto de Investigación Sanitaria de Canarias (PIFIISC20/57 to C.F.). We also acknowledge the contribution of the Centro National de Genotipado (CEGEN) and Centro de Supercomputación de Galicia (CESGA) for funding this project by providing supercomputing infrastructures. A.D.L. is a recipient of fellowships from the National Council for Scientific and Technological Development (CNPq)-Brazil (309173/2019-1 and 201527/2020-0)