7 research outputs found
Rare SLC13A1 variants associate with intervertebral disc disorder highlighting role of sulfate in disc pathology
- Author
- Alexiadis G.
- Babis G.C.
- Barysenka A.
- Blondal J.
- Boer C.G.
- Brunak S.
- Cheah K.S.E.
- Cheung J.P.Y.
- Coutinho de Almeida R.
- DBDS Genetic Consortium
- Didriksen M.
- Esko T.
- Gabrielsen M.E.
- Gaunt T.R.
- Gilly A.
- GO Consortium
- Gudbjartsson D.
- Gudbjartsson D.F.
- Hartley A.
- Hatzikotoulas K.
- Hveem K.
- Ikegawa S.
- Johansson P.I.
- Johnsen M.B.
- Kang J.H.
- Kloppenburg M.
- Kraft P.
- Larsen M.A.H.
- Lee M.T.M.
- Lietman S.A.
- Luetge A.
- Mangino M.
- Meulenbelt I.
- Morris A.P.
- Mägi R.
- Nelissen R.R.G.H.H.
- Nielsen K.R.
- Ostrowski S.
- Ostrowski S.R.
- Pedersen O.B.
- Samartzis D.
- Sham P.C.
- Shivakumar M.
- Skogholt A.H.
- Slagboom P.E.
- Smith G.D.
- Southam L.
- Stefansson H.
- Stefansson H.
- Stefansson K.
- Stefánsdóttir L.
- Steinberg J.
- Styrkársdóttir U.
- Sækmose S.
- Sørensen E.
- Takuwa H.
- Teder-Laving M.
- Terao C.
- Thomas L.F.
- Thorgeirsson T.E.
- Tobias J.H.
- Tsezou A.
- Tuerlings M.
- Uitterlinden A.G.
- Ulfarsson E.
- Ullum H.
- Valdes A.M.
- van Meurs J.B.J.
- Wilkinson J.M.
- Winsvold B.
- Wu T.T.
- Zeggini E.
- Zengini E.
- Zhang Y.
- Zheng J.
- Zwart J.-A.
- Þorsteinsdóttir U.
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- 02/02/2022
- Field of study
Publisher Copyright: © 2022, The Author(s).Back pain is a common and debilitating disorder with largely unknown underlying biology. Here we report a genome-wide association study of back pain using diagnoses assigned in clinical practice; dorsalgia (119,100 cases, 909,847 controls) and intervertebral disc disorder (IDD) (58,854 cases, 922,958 controls). We identify 41 variants at 33 loci. The most significant association (ORIDD = 0.92, P = 1.6 × 10−39; ORdorsalgia = 0.92, P = 7.2 × 10−15) is with a 3’UTR variant (rs1871452-T) in CHST3, encoding a sulfotransferase enzyme expressed in intervertebral discs. The largest effects on IDD are conferred by rare (MAF = 0.07 − 0.32%) loss-of-function (LoF) variants in SLC13A1, encoding a sodium-sulfate co-transporter (LoF burden OR = 1.44, P = 3.1 × 10−11); variants that also associate with reduced serum sulfate. Genes implicated by this study are involved in cartilage and bone biology, as well as neurological and inflammatory processes.Peer reviewe
Rare variants with large effects provide functional insights into the pathology of migraine subtypes, with and without aura
- Author
- Andreassen Ole A.
- Andrésdóttir Margrét
- Banasik Karina
- Bay Jakob
- Beyter Doruk
- Bjornsdottir Anna
- Bjornsdottir Gyda
- Boldsen Jens K.
- Brodersen Thorsten
- Brunak Søren
- Bruun Mie T.
- Burgdorf Kristoffer
- Chalmer Mona A.
- Didriksen Maria
- Dinh Khoa M.
- Dowsett Joseph
- Einarsson Gudmundur
- Erikstrup Christian
- Feenstra Bjarke
- Ferkingstad Egil
- Geller Frank
- Gretarsdottir Solveig
- Gudbjartsson Daniel F.
- Haavik Jan
- Halldórsson Bjarni Vilhjálmur
- Halldórsson Gísli Hreinn
- Hansen Thomas F.
- Helgadottir Anna
- Helgason Hannes
- Henriksen Alexander P.
- Hindhede Lotte
- Hjalgrim Henrik
- Hjorleifsson Eldjarn Grimur
- Holm Hilma
- Igland Jannicke
- Jacobsen Rikke L.
- Jemec Gregor
- Jonasdottir Adalbjorg
- Jonasdottir Aslaug
- Jónsdóttir Ingileif
- Kaspersen Katrine
- Kjerulf Bertram D.
- Knowlton Kirk U.
- Kogelman Lisette J.A.
- Larsen Margit A.H.
- Lie Rolv T.
- Louloudis Ioannis
- Ludvigsson Petur
- Lund Sigrún Helga
- Lundgaard Agnete
- Magnusson Olafur Th
- Masson Gisli
- Melsted Páll
- Mikkelsen Christina
- Mikkelsen Susan
- Moore Kristjan H.S.
- Nadauld Lincoln D.
- Nielsen Kaspar R.
- Nissen Ioanna
- Nyegaard Mette
- Oddsson Asmundur
- Olason Pall I.
- Olesen Jes
- Ostrowski Sisse R.
- Pedersen Ole B.
- Rohde Palle D.
- Rostgaard Klaus
- Rødevand Linn
- Saemundsdottir Jona
- Sigurdardottir Gudrun R.
- Sigurdsson Asgeir
- Skuladottir Astros Th
- Stefansson Hreinn
- Stefansson Olafur A.
- Stefánsdóttir Lilja
- Stefánsson Kári
- Sulem Patrick
- Sveinbjornsson Gardar
- Sveinsson Ólafur Árni
- Swinn Michael
- Sørensen Erik
- T. Bruun Mie
- Thorarensen Ólafur
- Thorgeirsson Thorgeir E.
- Thorleifsson Gudmar
- Thørner Lise W.
- Tragante Vinicius
- Ullum Henrik
- Unnsteinsdottir Unnur
- Walters Guðmundur Bragi
- Werge Thomas
- Westergaard David
- Zink Florian
- Þorsteinsdóttir Unnur
- Publication venue
- Publication date
- 01/11/2023
- Field of study
Publisher Copyright: © 2023, The Author(s).Migraine is a complex neurovascular disease with a range of severity and symptoms, yet mostly studied as one phenotype in genome-wide association studies (GWAS). Here we combine large GWAS datasets from six European populations to study the main migraine subtypes, migraine with aura (MA) and migraine without aura (MO). We identified four new MA-associated variants (in PRRT2, PALMD, ABO and LRRK2) and classified 13 MO-associated variants. Rare variants with large effects highlight three genes. A rare frameshift variant in brain-expressed PRRT2 confers large risk of MA and epilepsy, but not MO. A burden test of rare loss-of-function variants in SCN11A, encoding a neuron-expressed sodium channel with a key role in pain sensation, shows strong protection against migraine. Finally, a rare variant with cis-regulatory effects on KCNK5 confers large protection against migraine and brain aneurysms. Our findings offer new insights with therapeutic potential into the complex biology of migraine and its subtypes.Peer reviewe
Rare SLC13A1 variants associate with intervertebral disc disorder highlighting role of sulfate in disc pathology
- Author
- Alexiadis G
- Andersen S
- Babis GC
- Banasik K
- Barysenka A
- Bjarnadottir V
- Bjornsdottir G
- Bjornsson A
- Blondal J
- Boer CG
- Bragi Walters G
- Brunak S
- Brunak S
- Bruun MT
- Burgdorf K
- Cheah KSE
- Cheung JPY
- Coutinho de Almeida R
- Didriksen M
- Dinh KM
- Einarsson G
- Erikstrup C
- Esko T
- Ferkingstad E
- Gabrielsen ME
- Gaunt TR
- Gilly A
- Gudbjartsson D
- Gudbjartsson DF
- Gudjonsson SA
- Gudmundsson LJ
- Halldorsson GH
- Hansen TF
- Hartley A
- Hatzikotoulas K
- Helgadottir A
- Hjalgrim H
- Hveem K
- Ikegawa S
- Ingvarsson T
- Jemec G
- Jennum P
- Johansson PI
- Johansson PI
- Johnsen MB
- Jonsdottir I
- Jonsson H
- Kang JH
- Kloppenburg M
- Kraft P
- Larsen MAH
- Lee MTM
- Lietman SA
- Luetge A
- Lund SH
- Mangino M
- Meulenbelt I
- Mikkelsen S
- Morris AP
- Mägi R
- Nawaz MS
- Nelissen RRGHH
- Nielsen KR
- Nielsen KR
- Norland K
- Nyegaard M
- Oddsson A
- Olafsson IH
- Ostrowski S
- Ostrowski SR
- Pedersen OB
- Pedersen OB
- Samartzis D
- Sham PC
- Shivakumar M
- Skogholt AH
- Skou ST
- Skuladottir AT
- Slagboom PE
- Smith GD
- Southam L
- Stefansdottir L
- Stefansson H
- Stefansson K
- Stefánsdóttir L
- Stefánsson H
- Steinberg J
- Styrkarsdottir U
- Styrkársdóttir U
- Sulem P
- Sveinbjornsson G
- Sækmose S
- Sørensen E
- Takuwa H
- Teder-Laving M
- Terao C
- Thomas LF
- Thorgeirsson TE
- Thorleifsson G
- Thorsteinsdottir U
- Thørner LW
- Tobias JH
- Troelsen A
- Tsezou A
- Tuerlings M
- Uitterlinden AG
- Ulfarsson E
- Ullum H
- Valdes AM
- van Meurs JBJ
- Vikingsson A
- Werge T
- Wilkinson JM
- Winsvold B
- Wu TT
- Zeggini E
- Zengini E
- Zhang Y
- Zheng J
- Zink F
- Zwart J-A
- Þorsteinsdóttir U
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- 02/02/2022
- Field of study
Back pain is a common and debilitating disorder with largely unknown underlying biology. Here we report a genome-wide association study of back pain using diagnoses assigned in clinical practice; dorsalgia (119,100 cases, 909,847 controls) and intervertebral disc disorder (IDD) (58,854 cases, 922,958 controls). We identify 41 variants at 33 loci. The most significant association (ORIDD = 0.92, P = 1.6 × 10−39; ORdorsalgia = 0.92, P = 7.2 × 10−15) is with a 3’UTR variant (rs1871452-T) in CHST3, encoding a sulfotransferase enzyme expressed in intervertebral discs. The largest effects on IDD are conferred by rare (MAF = 0.07 − 0.32%) loss-of-function (LoF) variants in SLC13A1, encoding a sodium-sulfate co-transporter (LoF burden OR = 1.44, P = 3.1 × 10−11); variants that also associate with reduced serum sulfate. Genes implicated by this study are involved in cartilage and bone biology, as well as neurological and inflammatory processes
Rare SLC13A1 variants associate with intervertebral disc disorder highlighting role of sulfate in disc pathology
- Publication venue
- Publication date
- 01/01/2022
- Field of study
Back pain is a common and debilitating disorder with largely unknown underlying biology. Here we report a genome-wide association study of back pain using diagnoses assigned in clinical practice; dorsalgia (119,100 cases, 909,847 controls) and intervertebral disc disorder (IDD) (58,854 cases, 922,958 controls). We identify 41 variants at 33 loci. The most significant association (ORIDD = 0.92, P = 1.6 × 10−39; ORdorsalgia = 0.92, P = 7.2 × 10−15) is with a 3’UTR variant (rs1871452-T) in CHST3, encoding a sulfotransferase enzyme expressed in intervertebral discs. The largest effects on IDD are conferred by rare (MAF = 0.07 − 0.32%) loss-of-function (LoF) variants in SLC13A1, encoding a sodium-sulfate co-transporter (LoF burden OR = 1.44, P = 3.1 × 10−11); variants that also associate with reduced serum sulfate. Genes implicated by this study are involved in cartilage and bone biology, as well as neurological and inflammatory processes. © 2022, The Author(s)
Author Correction: Rare SLC13A1 variants associate with intervertebral disc disorder highlighting role of sulfate in disc pathology (Nature Communications, (2022), 13, 1, (634), 10.1038/s41467-022-28167-1)
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- 01/01/2022
- Field of study
The original version of this Article contained an error in Fig. 3, in which the blue and red trend lines on the left plot were incorrect. In addition, the text “Dorsalgia variants” in the table should have been italicized and underlined. The correct version of Fig. 3 is: (Figure presented.) which replaces the previous incorrect version: (Figure presented.). This has been corrected in both the PDF and HTML versions of the Article. © The Author(s) 2022
Rare SLC13A1 variants associate with intervertebral disc disorder highlighting role of sulfate in disc pathology
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- 01/01/2022
- Field of study
Back pain is a common and debilitating disorder with largely unknown underlying biology. Here we report a genome-wide association study of back pain using diagnoses assigned in clinical practice; dorsalgia (119,100 cases, 909,847 controls) and intervertebral disc disorder (IDD) (58,854 cases, 922,958 controls). We identify 41 variants at 33 loci. The most significant association (ORIDD = 0.92, P = 1.6 × 10−39; ORdorsalgia = 0.92, P = 7.2 × 10−15) is with a 3’UTR variant (rs1871452-T) in CHST3, encoding a sulfotransferase enzyme expressed in intervertebral discs. The largest effects on IDD are conferred by rare (MAF = 0.07 − 0.32%) loss-of-function (LoF) variants in SLC13A1, encoding a sodium-sulfate co-transporter (LoF burden OR = 1.44, P = 3.1 × 10−11); variants that also associate with reduced serum sulfate. Genes implicated by this study are involved in cartilage and bone biology, as well as neurological and inflammatory processes. © 2022, The Author(s)
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
- Al-Sarraj Y
- Alamer LM
- Alasdair F
- Alawneh FM
- Alawneh LM
- Albaiceta GM
- Albano G
- Albillos A
- Albrecht W
- Aldridge J
- Alexander P
- Alfonso J
- Alhousani TN
- Ali A
- Ali HH
- Ali IAM
- Ali S
- Aliberti S
- ALjalamdeh M
- Allan A
- Allan E
- Allan J
- Alldis Z
- Allen L
- Allen M
- Allen S
- Allen U
- Allibone S
- Allison KS
- Allouzy SK
- Ally SM
- Almadana V
- Almaden-Boyle C
- Almoguera B
- Alpuche-Aranda C
- AlRawashdeh TJ
- Alsafadi DB
- Alshaer W
- Alsoub FS
- Altabaibeh A
- Alvarez N
- Alvaro A
- Alzuraiqi MR
- Amamio M
- Aman NF
- Amin V
- Amiya S
- Ampuero J
- Anan R
- Anastasescu E
- Andersen S
- Anderson J
- Anderson M
- Anderson P
- Anderson S
- Anderson S
- Anderson T
- Ando A
- Andrade V
- Andreou P
- Andreu-Bernabeu Á
- Andrew A
- Andrew B
- Andrew G
- Andrews J
- Andrews S
- Andrews SJ
- Angelini C
- Ansari AI
- Antcliffe D
- Antoine P
- Antony S
- Anumakonda V
- Anwer M
- Anzai T
- Apetri E
- Aquino M
- Aquino-Gálvez A
- Arai D
- Arakelyan A
- Arana-Arri E
- Arana-Arri E
- Arango C
- Aravindan L
- Arbane G
- Archer K
- Arden T
- Arias SS
- Arif S
- Arimura K
- Armistead J
- Armstrong D
- Armstrong J
- Armstrong L
- Armstrong R
- Arning N
- Arnoldo S
- Arnott A
- Arora J
- Arora M
- Arranz MJ
- Arranz MJ
- Arribas-Rodriguez E
- Artiga M-J
- Arumugam P
- Asakura T
- Asano K
- Aschard H
- Ashby K
- Ashok SR
- Ashraf S
- Ashton L
- Asimakopoulos A
- Aslibekyan S
- Asselta R
- Astin-Chamberlain R
- Atayeva N
- Athanasiou L
- Atkinson EG
- Attwood B
- Atwal I
- Augustin M
- Auld D
- Auld F
- Austin K
- Austin P
- Auton A
- Avetyan D
- Awano N
- Awasthi S
- Ayers A
- Ayo NI
- Ayuso C
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- Azuma M
- Azuure C
- Azzolini E
- Baba R
- Baba T
- Bacher P
- Badal B
- Badalamenti S
- Baddeley A
- Badia JR
- Badji RM
- Bafitis V
- Bahmer T
- Baikady RR
- Bailey L
- Baillie JK
- Baines D
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- Baker M
- Bakthavatsalam D
- Balaconis MK
- Baldini M
- Balla D
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- Barnetche JM
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- Barreda-Sánchez M
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- Bokhari M
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- Cabrero DG
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- Strachan D
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- Subramanian D
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- Sugiura H
- Sugiyama M
- Sukha A
- Sukhatme MG
- Sukumaran A
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- Sundaram R
- Sutherland I
- Sutherland S-B
- Suwalski P
- Suzuki K
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- Suzuki Y
- Swain A
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- Swets M
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- Szabo D
- Szakmany T
- Szentpéteri JL
- Szoor-McElhinney H
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- Takeuchi M
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- Tamayo-Velasco A
- Tampsett R
- Tanaka A
- Tanaka H
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- Tanck A
- Taneski F
- Tani M
- Tanigawa Y
- Tanino Y
- Taniyama D
- Tanudjaja F
- Taracido-Fernandez JC
- Tardif N
- Tariq A
- Tateishi T
- Tateno H
- Tatham K
- Tauekelova A
- Tauro S
- Tavares S
- Taylor B
- Taylor C
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- Taylor J-A
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- Teles A
- Templeton M
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- Tenorio-Castaño JA
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- Teoh PC
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- Tetla D
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- Timpson NJ
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- Turney S
- Turtle L
- Turvey SE
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- Tutt G
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- Vadgama N
- Vadla MS
- Vaida M
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- Valdés PA
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- Valenti L
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- Vallerga CL
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- Van Heel DA
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- Vandernoot I
- Varghese M
- Vasilevska-Ristovska J
- Vassell K
- Vedage D
- Veerapen K
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- Vehreschild MJGT
- Velasco DG
- Velázquez-Cruz R
- Venkatesh H
- Verdugo RA
- Verdugo RA
- Vergasova E
- Verlander M
- Vertue M
- Verula J
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- Villalonga JM
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- Wakahara K
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- Washington NL
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- Watanabe K
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- Wyllie DH
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- 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
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- Zhou W
- Zhu W
- Zitter L
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- Zongo O
- Zorloni C
- Zuñiga-Pacheco P
- Zárate RN
- Zúñiga-Ramos J
- 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