49 research outputs found
Development of a stochastic computational fluid dynamics approach for offshore wind farms
- Author
- Publication venue
- 'IOP Publishing'
- Publication date
- 19/06/2018
- Field of study
In this paper, a method for stochastic analysis of an offshore wind farm using computational fluid dynamics (CFD) is proposed. An existing offshore wind farm is modelled using a steady-state CFD solver at several deterministic input ranges and an approximation model is trained on the CFD results. The approximation model is then used in a Monte-Carlo analysis to build joint probability distributions for values of interest within the wind farm. The results are compared with real measurements obtained from the existing wind farm to quantify the accuracy of the predictions. It is shown that this method works well for the relatively simple problem considered in this study and has potential to be used in more complex situations where an existing analytical method is either insufficient or unable to make a good prediction
Characteristics of Patent Ductus Arteriosus in Congenital Rubella Syndrome
- Author
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- 19/11/2019
- Field of study
This study investigated the characteristics of congenital rubella syndrome (CRS)-associated cardiac complications, particularly patent ductus arteriosus (PDA). We reviewed the medical records of patients with CRS who were admitted to the Children’s Hospital 1 in Vietnam between December 2010 and December 2012, and patients with CRS who underwent PDA transcatheter occlusion therapy at the cardiology department between December 2009 and December 2015. We compared the characteristics of PDA treated with transcatheter closure between children with CRS (CRS-PDA) and those without CRS (non-CRS-PDA) who underwent PDA transcatheter closure between July 2014 and December 2015. One-hundred-and-eight children with CRS were enrolled. Cardiac defects (99%), cataracts (72%), and hearing impairment (7%) were detected. Fifty CRS-PDA and 290 non-CRS-PDA patients were examined. CRS-PDA patients had smaller median birthweight (p < 0.001), more frequent pulmonary (p < 0.001) and aortic stenosis (p < 0.001), higher main pulmonary artery pressure, and higher aortic pressure in systole/diastole (p < 0.001 for each) than did non-CRS-PDA patients. The proportion of tubular-type PDA was higher in CRS-PDA patients (16%) than in non-CRS-PDA patients (3%) (p = 0.020). Tubular-type PDA was frequently seen in patients with CRS and accompanied by pulmonary/systemic hypertension and pulmonary/aortic stenosis; in these patients, more cautious device selection is needed for transcatheter PDA closure
Genome-Wide Meta-Analysis of Five Asian Cohorts Identifies PDGFRA as a Susceptibility Locus for Corneal Astigmatism
- Author
- A Cagigrigoriu
- A Kim
- AL Price
- AM Grjibovski
- AM Solouki
- AW Foong
- B Peng
- Belinda Cornes
- C Lange
- CC Khor
- CE Tan
- Chen Suo
- Chiea-Chuen Khor
- Ching-Yu Cheng
- CJ Hammond
- CJ Hammond
- CS Kee
- DJ Schaid
- DO Mutti
- DQ Li
- E Ciner
- E.-Shyong Tai
- EM Harvey
- EM Harvey
- EN Vithana
- Eranga Vithana
- F Carbonaro
- G Heidary
- GR Kazeem
- H Hashemi
- H Kaur
- J Cui
- J Cutter
- J Kawagishi
- Janey Wiggs
- Jianjun Liu
- JM Ip
- K Attebo
- K Hughes
- K Hughes
- K Zadnik
- Kee-Seng Chia
- KW Wright
- L Cowen
- L Llorente
- L O'Donoghue
- L Tong
- Liang-Kee Goh
- LK Yeh
- M Clementi
- M Dirani
- M Dirani
- M Fruttiger
- M He
- M KhabazKhoob
- Mark Seielstad
- MC Heinrich
- Mohammad Kamran Ikram
- N Vij
- P Raju
- PG Hysi
- PI de Bakker
- PR Keller
- Qiao Fan
- R Lavanya
- Rick Twee-Hee Ong
- S Han
- S Vitale
- SA Read
- SB Thom
- SC Huynh
- Seang-Mei Saw
- SG Robbins
- SM Saw
- T Grosvenor
- Terri L. Young
- Tien-Yin Wong
- Tin Aung
- TL Young
- TY Wong
- V Dobson
- VP Hoppenreijs
- Wan-Ting Tay
- WJ Kim
- WR Baldwin
- Xin Zhou
- Xueling Sim
- Y Wang
- Yi-Ju Li
- Yik-Ying Teo
- YJ Li
- YY Teo
- Publication venue
- Public Library of Science
- Publication date
- 01/12/2011
- Field of study
Corneal astigmatism refers to refractive abnormalities and irregularities in the curvature of the cornea, and this interferes with light being accurately focused at a single point in the eye. This ametropic condition is highly prevalent, influences visual acuity, and is a highly heritable trait. There is currently a paucity of research in the genetic etiology of corneal astigmatism. Here we report the results from five genome-wide association studies of corneal astigmatism across three Asian populations, with an initial discovery set of 4,254 Chinese and Malay individuals consisting of 2,249 cases and 2,005 controls. Replication was obtained from three surveys comprising of 2,139 Indians, an additional 929 Chinese children, and an independent 397 Chinese family trios. Variants in PDGFRA on chromosome 4q12 (lead SNP: rs7677751, allelic odds ratio = 1.26 (95% CI: 1.16–1.36), Pmeta = 7.87×10−9) were identified to be significantly associated with corneal astigmatism, exhibiting consistent effect sizes across all five cohorts. This highlights the potential role of variants in PDGFRA in the genetic etiology of corneal astigmatism across diverse Asian populations
A common variant near TGFBR3 is associated with primary open angle glaucoma
- Author
- (ANZgene)
- Alex W. Hewitt
- Allingham
- Allison E. Ashley Koch
- Anil K. Negi
- Anita S.Y. Chan
- Augusto Azuara Blanco
- Aurelien Goncalves
- Azhany Yakub
- Balekudaru Shantha
- Barrett
- Baskaran Mani
- Blanche Lim
- Blobe
- Bonnefond
- Bowen Zhao
- Burdon
- Cai
- Cameron P. Simmons
- Cao
- Changwon Kee
- Chen
- Chi Pui Pang
- Chiea-Chuen Khor
- Ching Yu Cheng
- Ching-Lin Ho
- Christopher A. Girkin
- Christopher K.S. Leung
- Chukai Huang
- Dan Milea
- Daniel H Su
- David A. Mackey
- David Broadway
- David F. Garway-Heath
- David Goh
- Diestel
- Do Nhu Hon
- Douglas E. Gaasterland
- E-Shyong Tai
- Elaine Chua
- Eranga N. Vithana
- Essam A. Osman
- Fan
- Fan
- Fan
- Fingert
- Fingert
- Fuchshofer
- Garway-Heath
- Gharahkhani
- Hannon
- Hirschhorn
- Hoglinger
- Hong Zhang
- Huyghe
- Hysi
- Ihaka
- Jae H. Kang
- Jamie E. Craig
- Janey L. Wiggs
- Jessica N. Cooke Bailey
- Jia Nee Foo
- Jianjun Liu
- Jin-Xin Bei
- Jinghong Sang
- Jonathan L. Haines
- Jong Chul Han
- Jost B. Jonas
- Julia E. Richards
- Kang
- Kathryn Burdon
- Kazuhiko Mori
- Kei Tashiro
- Kengo Yoshii
- Khaled K. Abu-Amero
- Khor
- Khor
- Kooner
- Lee
- Leon W. Herndon
- Li-Jia Chen
- Lingam Vijaya
- Liyun Jia
- Liza-Sharmini A. Tajudin
- Louis R. Pasquale
- Lu
- Masakazu Nakano
- Massague
- Mei Chin Lee
- Merwyn Chew
- Michael A. Hauser
- Mineo Ozaki
- Mingzhi Zhang
- Monemi
- Monisha E. Nongpiur
- Morio Ueno
- Nakano
- Nalls
- NiHong Zhang
- Ningli Wang
- Nobuo Fuse
- Pansy O.S. Tam
- Pascal Reynier
- Pasmant
- Pasquale
- Pena
- Periasamy Sundaresan
- Philomenadin Ferdinamarie Sharmila
- Prasanthi Namburi
- Pratap Challa
- Price
- Purcell
- Puya Gharahkhani
- Quigley
- Quigley
- R. Rand Allingham
- Rahat Husain
- Ramdas
- Reveille
- Rezaie
- Robert Ritch
- Ronnie George
- Rupert Bourne
- Ryuichi Sato
- Saleh A. Al-Obeidan
- Sarangapani Sripriya
- Saravanan Vijayan
- Sarfarazi
- Sawcer
- Sayoko E. Moroi
- Seang-Mei Saw
- Shamira A. Perera
- Sheffield
- Shigeru Kinoshita
- Sohn Seongsoo
- Songhomita Panda-Jonas
- Springelkamp
- Stone
- Stuart Macgregor
- Subbiah Ramasamy Krishnadas
- Takanori Mizoguchi
- Tan Do
- Tham
- Thorleifsson
- Tien Yin Wong
- Tin Aung
- Tina T. Wong
- Tran Nguyen Bich Chau
- Victor H.K. Yong
- Vithana
- Wang Xu
- Wee Yang Meah
- Wiggs
- Wiggs
- Xiao Yu Ng
- Xinghuai Sun
- Yaan Fun Chong
- Yi-Xin Zeng
- Yik Ying Teo
- Ying Lin
- Yoko Ikeda
- Yuhong Chen
- Yutao Liu
- Zheng Li
- Zhenglin Yang
- Publication venue
- 'Oxford University Press (OUP)'
- Publication date
- 01/01/2015
- Field of study
Primary open angle glaucoma (POAG), a major cause of blindness worldwide, is a complex disease with a significant genetic contribution. We performed Exome Array (Illumina) analysis on 3504 POAG cases and 9746 controls with replication of the most significant findings in 9173 POAG cases and 26 780 controls across 18 collections of Asian, African and European descent. Apart from confirming strong evidence of association at CDKN2B-AS1 (rs2157719 [G], odds ratio [OR] = 0.71, P = 2.81 × 10−33), we observed one SNP showing significant association to POAG (CDC7–TGFBR3 rs1192415, ORG-allele = 1.13, Pmeta = 1.60 × 10−8). This particular SNP has previously been shown to be strongly associated with optic disc area and vertical cup-to-disc ratio, which are regarded as glaucoma-related quantitative traits. Our study now extends this by directly implicating it in POAG disease pathogenesis
Effects of hospital facilities on patient outcomes after cancer surgery: an international, prospective, observational study
- Author
- A Yacoub M.
- A. Adam M.
- A. Nassar M.
- A. Nemer A.
- Aahlin E. K.
- Ab Rahim M. F.
- Abad Gurumeta A.
- Abad-Motos A.
- Abang Jamari D. Z. H.
- Abantanga F.
- Abarca S.
- Abazid E.
- Abbas A.
- Abbas K.
- Abbas M. M.
- Abbasy J.
- Abbosh A.
- Abd B.
- Abd Karim M. F. S.
- Abd Wahab H. H.
- Abdalei A.
- Abdalla Ahmed Elkamel A.
- Abdallah A.
- AbdAllah M. S. M.
- Abdel Malik A. B.
- Abdelhady Mousa H.
- Abdelhady S.
- Abdelhakim A.
- Abdelkader M.
- Abdelkawy S.
- Abdelkhalek M.
- Abdellatif E.
- Abdelmaksoud Tawakel N.
- Abdelmohsen N.
- Abdelmotaleb I.
- Abdelrazek A.
- Abdelsalam I.
- Abdelshakour M.
- Abdelwahed A. M.
- Abdou A.
- Abdou A. O.
- Abdou H.
- Abdul Aziz M. R.
- Abdul Aziz N.
- Abdulgawad Almogy M.
- Abdulla M. A.
- Abdullah M. T.
- Abdullahi L.
- Abdullayev S.
- Abed S.
- Abello D.
- Abiola O.
- Abo mahadi A.
- Abo-khammash A.
- Abou Chaar M. K.
- Abou El. soud M. R.
- Abouelsoad N.
- Abraham J.
- Abreu da Silva A.
- Abu Ahammala A. B.
- Abu Al Amrain M.
- Abu Al-saleem H.
- Abu Alamrain A.
- Abu Alqumboz A.
- Abu Ataya A.
- Abu hallalah M. F. K.
- Abu Jamie N.
- Abu Jayyab I.
- Abu shua'ib R.
- Abu Zainah B.
- Abu-Nimeh S.
- Abu-Rous M. R.
- Abu-srour A.
- Abuelhatal H.
- Abuelqomboz A.
- Abuhilal B.
- Abuhlaiga M.
- Abujamra S.
- Abukhalaf S. A.
- Abusalem L.
- AbuSirrees M.
- Acevedo V.
- Acharya R.
- Achkasov S.
- Acosta E.
- Adamo K.
- Adamou H.
- Adams J.
- Adams L.
- Adawi S.
- Adebanjo A.
- Adel M.
- Adel S.
- Ademuyiwa A.
- Ademuyiwa A. O.
- Adenuga A.
- Aderounmu A.
- Adesanya O.
- Adesina A.
- Adesunkanmi A. -R.
- Adeyeye A.
- Adidharma P.
- Adisa A.
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- Adnan N.
- Afifi A. A.
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- Afzal A.
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- Agbeko A. E.
- Aguilar Martinez M. D. M.
- Aguilera M. L.
- Aguilera-Arevalo M. -L.
- Ahlqvist S.
- Ahmad Izzuddin A. I.
- Ahmad K.
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- Widmer L. W.
- Wierdak M.
- Wijekoon Arachchilage N.
- Wilguens Lartigue J.
- Willemin M.
- Williams C. Y. K.
- Wills V.
- Wilson K.
- Wilson M.
- Wimmer K.
- Windsor J.
- Wineberg D.
- Winiarski M.
- Winoto H.
- Winter Beatty J.
- Winter D.
- Wisal M.
- Wisselink D.
- Wogensen F.
- Wondoh P. M.
- Wong F.
- Wong H. V.
- Wong J.
- Wong J. J.
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- Xanthopoulou G.
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- Yahia Mohamed Ali M.
- Yakushkina A.
- Yalcinkaya A.
- Yang P. Z.
- Yanikoglu E.
- Yanni F.
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- Yenli E.
- Yeo J.
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- Yesilsancak M.
- Yildirim R.
- Yildiz A.
- Yilmaz D.
- Yip C. W.
- Ylatoma Diaz E. A.
- Yong S. Q.
- Yoong A.
- Yorke J.
- Yotsov T.
- You L.
- Younes E.
- Younes M.
- Yousry B.
- Yozgatli T. K.
- Yu K.
- Yue S. Y. P.
- Yuksel O.
- Yunes A.
- Yusuf B.
- Zabiyaka M.
- Zachariah S. K.
- Zafar S. N.
- Zaffaroni G.
- Zahra B.
- Zahran D.
- Zakaria A. D.
- Zakaria M.
- Zakaria O.
- Zakaria Z.
- Zambrana Campos V.
- Zammit M.
- Zanini N.
- Zara V. J.
- Zarti H.
- Zarzycki P.
- Zatecky J.
- Zattoni D.
- Zavala G.
- Zawahrah H.
- Zeiton A.
- Zeko A.
- Zeng Z.
- Zeromskas P.
- Zhang G.
- Zhivkov E.
- Zid E.
- Zidan A. M.
- Zielasek C.
- Zilinskas J.
- Zimmermann B.
- Ziprin P.
- Zizzo M.
- Zografos G.
- Zoikas A.
- Zorrilla Matilla L. P.
- Zoulamoglou M.
- Zreeg D.
- Zub-Pokrowiecka A.
- Zubiaurre V.
- Zuhdy M.
- Zuikyte D.
- Zuloaga Fernandez del Valle C. J.
- Zulu S.
- Zumbakys
- Zupan D.
- Publication venue
- 'Elsevier BV'
- Publication date
- 01/01/2022
- Field of study
Background Early death after cancer surgery is higher in low-income and middle-income countries (LMICs) compared with in high-income countries, yet the impact of facility characteristics on early postoperative outcomes is unknown. The aim of this study was to examine the association between hospital infrastructure, resource availability, and processes on early outcomes after cancer surgery worldwide.Methods A multimethods analysis was performed as part of the GlobalSurg 3 study-a multicentre, international, prospective cohort study of patients who had surgery for breast, colorectal, or gastric cancer. The primary outcomes were 30-day mortality and 30-day major complication rates. Potentially beneficial hospital facilities were identified by variable selection to select those associated with 30-day mortality. Adjusted outcomes were determined using generalised estimating equations to account for patient characteristics and country-income group, with population stratification by hospital.Findings Between April 1, 2018, and April 23, 2019, facility-level data were collected for 9685 patients across 238 hospitals in 66 countries (91 hospitals in 20 high-income countries; 57 hospitals in 19 upper-middle-income countries; and 90 hospitals in 27 low-income to lower-middle-income countries). The availability of five hospital facilities was inversely associated with mortality: ultrasound, CT scanner, critical care unit, opioid analgesia, and oncologist. After adjustment for case-mix and country income group, hospitals with three or fewer of these facilities (62 hospitals, 1294 patients) had higher mortality compared with those with four or five (adjusted odds ratio [OR] 3.85 [95% CI 2.58-5.75]; p<0.0001), with excess mortality predominantly explained by a limited capacity to rescue following the development of major complications (63.0% vs 82.7%; OR 0.35 [0.23-0.53]; p<0.0001). Across LMICs, improvements in hospital facilities would prevent one to three deaths for every 100 patients undergoing surgery for cancer.Interpretation Hospitals with higher levels of infrastructure and resources have better outcomes after cancer surgery, independent of country income. Without urgent strengthening of hospital infrastructure and resources, the reductions in cancer-associated mortality associated with improved access will not be realised
New genetic loci link adipose and insulin biology to body fat distribution.
- Author
- Aalto Ville
- Aasarød Knut
- Abecasis Goncalo R
- Abecasis Gonçalo
- Absher Devin
- Adair Linda S
- Adam Martin
- Adeyemo Adebowale
- Ahlqvist Emma
- Ahmadi Kourosh R
- Ahola Aila
- Ainali Chrysanthi
- Akylbekova Ermeg
- Ala-Korpela Mika
- Alavere Helen
- Albagha Omar M E
- Albrecht Eva
- Alen Markku
- Alexander Myriam
- Alhenc-Gelas François
- Alizadeh Behrooz Z
- Allison Matthew A
- Alonso Nerea
- Altshuler David
- Ambite Jose Luis
- Amin Najaf
- Amouyel Philippe
- An Ping
- Anderson Carl A
- Anderson Denise
- Anderson Garnet
- Andrews Jeanette S
- Antonella Mulas
- Antti Jula
- Aragaki Aaron K
- Arking Dan E
- Arnold Alice
- Arnold Alice M
- Arora Pankaj
- Arscott Gillian M
- Artigas Maria Soler
- Arveiler Dominique
- Asiki Gershim
- Aspelund Thor
- Assimes Themistocles L
- Atalay Mustafa
- Atkinson Elizabeth J
- Aulchenko Yurii
- Avery Christy
- Bain Stephen C
- Bakker Stephan J L
- Balcells Susana
- Balkau Beverley
- Ballantyne Christie M
- Balmforth Anthony J
- Bandinelli Stefania
- Barbalic Maja
- Barrett Amy
- Barroso Ines
- Barroso Inês
- Basart Hanneke
- Basart Hanneke V
- Bataille Veronique
- Baumert Jens
- Beckmann Jacques S
- Beekman Marian
- Been Latonya F
- Beilby John
- Beilby John P
- Bell Jordana T
- Bellis Claire
- Bennett Amanda J
- Bennett Franklyn
- Berenson Gerald S
- Bergman Richard N
- Bergmann Sven
- Berndt Sonja I
- Berne Christian
- Bidulescu Aurelian
- Bielak Lawrence F
- Bierut Laura J
- Biffar Reiner
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- Blackburn Hannah
- Blangero John
- Blankenberg Stefan S
- Blüher Matthias
- Boban Mladen
- Bochud Murielle
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- Bouatia-Naji Nabila
- Bouchard Claude
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- Cheng Sulin
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- Witteman Jacqueline C M
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- Wong Tien Y
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- Wood Andy
- Workalemahu Tsegaselassie
- Wright Alan F
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- Wu Joseph M W
- Wu Ying
- Würtz Peter
- Xiao Su-Mei
- Yajnik Chittaranjan S
- Yang Jian
- Yang Qiong
- Yang Tsun-Po
- Yao Jie
- Yengo Loïc
- Yerges-Armstrong Laura M
- Young Alicia
- Young Elizabeth H
- Young J H
- Young Lauren
- Yuan Xin
- Zaboli Ghazal
- Zalloua Pierre A
- Zarrabeitia María T
- Zelenika Diana
- Zemunik Tatijana
- Zerbini Gianpaolo
- Zgaga Lina
- Zhai Guangju
- Zhang Feng
- Zhang Qunyuan
- Zhang Weihua
- Zhao Jing Hua
- Zhao Wei
- Zheng Hou-Feng
- Zheng Wei
- Zhou Yanhua
- Zhu Haidong
- Zhu Kun
- Zhu Xiaofeng
- Zhuang Wei V
- Zhuang Wei Vivian
- Ziegler Andreas
- Zillikens M Carola
- Zimmermann Martina E
- Zitting Paavo
- Zondervan Krina T
- Zukowska-Szczechowska Ewa
- Zygmunt Marek
- Ärnlöv Johan
- Österholm Anne-May
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- 01/01/2015
- Field of study
Body fat distribution is a heritable trait and a well-established predictor of adverse metabolic outcomes, independent of overall adiposity. To increase our understanding of the genetic basis of body fat distribution and its molecular links to cardiometabolic traits, here we conduct genome-wide association meta-analyses of traits related to waist and hip circumferences in up to 224,459 individuals. We identify 49 loci (33 new) associated with waist-to-hip ratio adjusted for body mass index (BMI), and an additional 19 loci newly associated with related waist and hip circumference measures (P < 5 × 10(-8)). In total, 20 of the 49 waist-to-hip ratio adjusted for BMI loci show significant sexual dimorphism, 19 of which display a stronger effect in women. The identified loci were enriched for genes expressed in adipose tissue and for putative regulatory elements in adipocytes. Pathway analyses implicated adipogenesis, angiogenesis, transcriptional regulation and insulin resistance as processes affecting fat distribution, providing insight into potential pathophysiological mechanisms
Finishing the euchromatic sequence of the human genome
- Author
- . Haifeng
- . Magner
- . Yin
- Abbott Scott
- Abbott-Ozersky Amanda
- Abdellah Zahra
- Abouelleil Amr
- Abrajano Anne
- Adachi Tamami
- Adam Catherine
- Adams Charles Q.
- Adamson Aaron
- Adekoya Emmanuel
- Adio-Oduola Babajide
- Aerts Andrea
- Aggarwal Arun
- Ahmadi Alireza
- Ahmed Shahana
- Aimable Matthew
- Ainscough Rachael
- Ait-Zahra Mostafa
- Aizu Tomoyuki
- Alcivare Dana
- Alegria Michelle
- Ali Alla
- Ali Johar
- Allegria-hartmann Michelle
- Alleman Jennifer
- Allen Carlana C.
- Allen Heather
- Allen Nicole R.
- Allen Susan
- Allen Thaddeus
- Almeida Jeff
- Almond Claire
- Alsbrooks Stephen L.
- Altherr Michael R.
- Amaratunge Harshinie C.
- Ambler Andrew
- Ambrose Karen
- Ambrose Kerrie
- Amemiya Chris
- Amico-Keller Gina
- Amin Amita G.
- Anderson Mechele
- Anderson Scott
- Anderson Scott
- Andora Janice
- Andredesz Carol
- Andrew Robert
- Andrews Dan
- Andrews Daniel
- Andrews Neil
- Andrews Stephanie
- Andriese Tim
- Anthouard Véronique
- Antonarakis Stylianos E.
- Anyalebechi Vivian
- Aoki Norie
- Apostolou Sinoula
- Apweiler Eva
- Arachchi Harindra
- Arai Rie
- Arbery Hazel
- Arcaina Marlon
- Arcaina Terisita
- Archer Beth
- Arellano Andre
- Arellano-Jones Perry
- Armbruster Jeff
- Armstrong Jon
- Arredondo Dilrukshi P.
- Arredondo Heather Hope
- Artiguenave François
- Asakawa Shuichi
- Asakawa Teruyo
- Ash Gareth
- Ashcroft Kevin
- Ashurst Jennifer
- Ashwell Robert
- Ashworth Linda K.
- Aslanidis Cara
- Asomugha Chinwe O.
- Asuncion Lawreen
- Atkin Deborah
- Atkinson Andrea
- Atkinson Barry
- Attix Cristina
- Attwood John
- Aubin Keith
- Auger Katherine
- Austin Shannon Michelle
- Avila Aaron
- Avis Terry
- Ayele Mulu
- Babayan Primo
- Babbage Anne
- Babbage Sarah
- Bach Phil
- Bachatsang Pasang
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- Badri Hummy
- Baertsch Robert
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- Baker M.
- Baker Richard
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- Banerjee Ruby
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- Bao Qiyu
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- Barbe Valérie
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- Basu Suba
- Bateman Alex
- Bates Karen
- Battles John
- Batzer Mark
- Baumgart Cornelia
- Baumohl Jason
- Baynes Caroline
- Bayul Tashi
- Beall Keith
- Beard Lisa
- Beard Susan
- Beare David
- Beasley Alastair
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- Berghoff Amy
- Bergmann Anne
- Berkowicz Nicolas
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- Beugelsdijk Tony J.
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- Bituin Aleksandr
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- Blakey Sarah
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- Boukhgalter Boris
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- Brannon Wade
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- Burgess Joanne
- Burgin Matt
- Burkett Carrie E.
- Burkhart-Schultz Karolyn
- Burrell Kevin L.
- Burrill Wayne
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- Cahill Patrick
- Cai Tianjing
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- Cairns Murray
- Calderon Eliana
- Callen David F.
- Camarata Jody
- Camire David
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- Campo Kevin
- Canning Bruno
- Cao Ting
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- Caoile Chenier
- Cardenas Faviola
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- Carder Carol
- Carder Paul
- Carpenter Kelly
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- Chen Hsiu-Chuan
- Chen Jianlong
- Chen Jie
- Chen Jin
- Chen Junbao
- Chen Lihong
- Chen Lixia
- Chen Ray
- Chen Shu
- Chen Tong
- Chen Xiaoyun
- Chen Xinyi
- Chen Yanjiong
- Chen Yiyu
- Chen Zhu
- Chen Zhu
- Chen Zhu
- Cheng Jan-Fang
- Cheng Zhihua
- Chertkov Olga
- Cheshatsang Yama
- Chi Cheng
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- Chillingworth Neil
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- Chissoe Stephanie
- Chiu Sally
- Chothia Tom
- Christensen Mari
- Christopoulos Constantine
- Chu Joseph
- Chui Connie
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- Clarke Betty
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- Clee Chris
- Clegg Shelia
- Clerc Blankenburg Kerstin Petra
- Cleveland David
- Clifford Karen
- Clifton Sandra W.
- Coates Julia
- Cobley Victoria
- Cockrell Raynard
- Coffey Alison
- Cofield Jackie
- Coggill Penelope
- Cohn Judith D.
- Colayco Rick
- Cole Lotte
- Collier Rachael
- Collings Simon
- Collins Francis S.
- Collins John
- Collins Philip
- Collymore Al
- Colman Louise
- Combs Jessie
- Comstock Robin
- Cong Bin
- Conner Richard
- Connolly Anthony
- Connolly Karen
- Conquer Jennie
- Conrad Ansgar
- Conroy Donald
- Considine Tony
- Constance Doug
- Cook April
- Cook Leanna
- Cooke Patrick
- Cooper Jonathan
- Cooper Rachel
- Cooper Robert
- Copeland Alex
- Coppola Maria
- Copsey Teresa
- Corby Nicole
- Cordes Matt
- Cordray Rebecca
- Cornell Christine
- Cornell Earl
- Cornell Linda
- Cornell Ruth
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- Courtney Laura P.
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- Cox Anthony
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- Coyle Marcus D.
- Craig Matthew
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- Crawley Matt
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- Crew Victor
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- Cummings Paul
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- Cuomo Christina A.
- Curran Adam
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- Cutts Jeffrey
- Czubayko Martin
- D\u27Souza Lisa Marie
- Da Silva Corinne
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- Daniels Rachael
- Dathorne Stephanie R.
- Daum Christopher
- David Robert
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- Dawson Elisabeth
- De Anda Claudia
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- DeArellano Kurt
- Deaven Larry I.
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- Deere Kerry
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- Degusta David
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- Harbes Brandy A.
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- Krawczyk Marie-Claude
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- Krogh Anders
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- Kube Michael
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- Nelson Ward
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- Yada Tetsushi
- Yadav Shailendra
- Yakub Syed
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- Yun Rui
- Zainoun Joanne
- Zembeck Lisa
- Zeng Yixin
- Zhai Dong
- Zhan Guoping
- Zhang Bo
- Zhang Caimin
- Zhang Fengmei
- Zhang Guangyu
- Zhang Guohua
- Zhang Guohua
- Zhang Haiqing
- Zhang Haiqing
- Zhang Haiqing
- Zhang Hongbo
- Zhang Hongbo
- Zhang Jingjing
- Zhang Jingjing
- Zhang Jingkun
- Zhang Jiuchun
- Zhang Jiuchun
- Zhang Lanzhi
- Zhang Li
- Zhang Li
- Zhang Meihua
- Zhang Meng
- Zhang Ming
- Zhang Qing
- Zhang Ruhua
- Zhang Shaojie
- Zhang Tiezhen
- Zhang Wei
- Zhang Wei
- Zhang Xianglin
- Zhang Xianglin
- Zhang Xiaoliang
- Zhang Xiuqing
- Zhang Yan
- Zhang Yi
- Zhang Yilin
- Zhang Yilin
- Zhang Ying
- Zhang Yuansen
- Zhang Yuzhi
- Zhang Zhengdong
- Zhao Hongmei
- Zhao Lijian
- Zhao Shenru
- Zhao Zhijing
- Zhen Zhicheng
- Zheng Haibo
- Zhong Ming
- Zhou Carol
- Zhou Haixia
- Zhou Jianling
- Zhou Nannan
- Zhou Xinfeng
- Zhou Yan
- Zhou Yang
- Zhou Yi
- Zhu Bingying
- Zhu Bofeng
- Zhu Fenghua
- Zhu Genfeng
- Zhu Genfeng
- Zhu Miao
- Zhu Ning
- Zhu Yongge
- Zhu Zhen
- Zhuang Shitao
- Zierten Deborah
- Zimmer Andrew
- Zody Michael C.
- Zollo Massimo
- Zorrilla Sara E.
- Zuo Lin
- Publication venue
- LSU Digital Commons
- Publication date
- 21/10/2004
- Field of study
The sequence of the human genome encodes the genetic instructions for human physiology, as well as rich information about human evolution. In 2001, the International Human Genome Sequencing Consortium reported a draft sequence of the euchromatic portion of the human genome. Since then, the international collaboration has worked to convert this draft into a genome sequence with high accuracy and nearly complete coverage. Here, we report the result of this finishing process. The current genome sequence (Build 35) contains 2.85 billion nucleotides interrupted by only 341 gaps. It covers ∼99% of the euchromatic genome and is accurate to an error rate of ∼1 event per 100,000 bases. Many of the remaining euchromatic gaps are associated with segmental duplications and will require focused work with new methods. The near-complete sequence, the first for a vertebrate, greatly improves the precision of biological analyses of the human genome including studies of gene number, birth and death. Notably, the human enome seems to encode only 20,000-25,000 protein-coding genes. The genome sequence reported here should serve as a firm foundation for biomedical research in the decades ahead
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- Author
- Alex W Hewitt
- Allison E Ashley Koch
- Anil K Negi
- Anita S Y Chan
- Augusto Azuara Blanco
- Aurelien Goncalves
- Azhany Yakub
- Balekudaru Shantha
- Baskaran Mani
- Bich Chau
- Blanche Lim
- Bowen Zhao
- Cameron P Simmons
- Changwon Kee
- Chi Pui Pang
- Chiea-Chuen Khor
- Ching Yu Cheng
- Ching-Lin Ho
- Christopher A Girkin
- Christopher K S Leung
- Chukai Huang
- Dan Milea
- Daniel H Su
- David A Mackey
- David Broadway
- David F Garway-Heath
- David Goh
- Do Nhu Hon
- E-Shyong Tai
- Elaine Chua
- Eranga N Vithana
- Essam A Osman
- Hong Zhang
- Jae H Kang
- Jamie E Craig
- Janey L Wiggs
- Jessica N Cooke Bailey
- Jia Nee Foo
- Jianjun Liu
- Jin-Xin Bei
- Jinghong Sang
- Jonathan L Haines
- Jong Chul Han
- Jost B Jonas
- Kathryn Burdon
- Kazuhiko Mori
- Kei Tashiro
- Kengo Yoshii
- Khaled K Abu-Amero
- Leon W Herndon
- Li-Jia Chen
- Lingam Vijaya
- Liyun Jia
- Liza-Sharmini A Tajudin
- Louis R Pasquale
- Masakazu Nakano
- Mei Chin Lee
- Merwyn Chew
- Michael A Hauser
- Mineo Ozaki
- Mingzhi Zhang
- Minh City
- Monisha E Nongpiur
- Morio Ueno
- Nihong Zhang
- Ningli Wang
- Nobuo Fuse
- Pansy O S Tam
- Pascal Reynier
- Periasamy Sundaresan
- Philomenadin Ferdinamarie
- Prasanthi Namburi
- Pratap Challa
- Puya Gharahkhani
- R Rand Allingham
- Rahat Husain
- Ronnie George
- Rupert Bourne
- Ryuichi Sato
- Saleh A Al-Obeidan
- Sarangapani Sripriya
- Saravanan Vijayan
- Sayoko E Moroi
- Seang-Mei Saw
- Shamira A Perera
- Sharmila 17
- Shigeru Kinoshita
- Sohn Seongsoo
- Songhomita Panda-Jonas
- Stuart Macgregor
- Subbiah Ramasamy Krishnadas
- Takanori Mizoguchi
- Tan Do
- Tien Yin Wong
- Tin Aung
- Tina T Wong
- Tran Nguyen
- Victor H K Yong
- Vietnam
- Wang Xu
- Wee Yang Meah
- Xiao Yu Ng
- Xinghuai Sun
- Yaan Fun Chong
- Yi-Xin Zeng
- Yik Ying Teo
- Ying Lin
- Yoko Ikeda
- Yuhong Chen
- Yutao Liu
- Zheng Li
- Zhenglin Yang
- Publication venue
- Publication date
- 01/05/2020
- Field of study
Abstract Primary open angle glaucoma (POAG), a major cause of blindness worldwide, is a complex disease with a significant genetic contribution. We performed Exome Array ), we observed one SNP showing significant association to POAG (CDC7-TGFBR3 rs1192415, OR G-allele = 1.13, P meta = 1.60 × 10 −8 ). This particular SNP has previously been shown to be strongly associated with optic disc area and vertical cup-to-disc ratio, which are regarded as glaucoma-related quantitative traits. Our study now extends this by directly implicating it in POAG disease pathogenesis
Ideações e tentativas de suicídio em adolescentes com práticas sexuais hetero e homoeróticas
- Author
- ARENALES L.
- ARIÈS P.
- BARROS M. B. A.
- BLUMENFELD W. J.
- BONTEMPO D. E.
- BORRILLO D.
- CABRAL J. T.
- CARDOSO F. N.
- Carina Alexandra Rondini
- CASSORLA R. M S.
- CASSORLA R. M. S.
- CASTAÑEDA M.
- CECCHETTO F. R.
- CLAUZARD P.
- CONNELL R. W.
- CÁCERES C. F.
- D'AUGELLI A. R.
- D'OLIVEIRA C. F. A.
- DURKHEIM É.
- ERIBON D.
- ERIBON D.
- Fernando Silva Teixeira-Filho
- FERREIRA M. S.
- FOUCAULT M.
- GARCIA S. M.
- GAROFALO R.
- GOFFMAN E.
- GUIMARÃES K.
- HARDIN K. N.
- HERRELL R.
- HIGGINS P.
- ISAY R. A.
- KATZ J. N.
- KIMMEL M. S.
- KÜBLER-ROSS E.
- LAIRD J.
- LOURO G. L.
- LOURO G. L.
- MARCUS E.
- MARTIN G.
- MARTIN G.
- MORENO M.M.
- MURPHY H. E.
- NASCIMENTO W. F. do.
- OLIVEIRA E. A.
- OLIVEIRA V. M. de.
- PAUL GIBSON L. C. S. W.
- PEREIRA M. G.
- REMAFEDI G.
- REMAFEDI G.
- ROUYER M.
- RUST P. C.
- RYAN C.
- SAEWYC E. M.
- SANTOS B. R. dos.
- SANTOS E. N.
- SAVIN-WILLIAMS R. C.
- SAVIN-WILLIAMS R. C.
- SAVIN-WILLIAMS R. C.
- SAVIN-WILLIAMS R. C.
- SAVIN-WILLIAMS R. C.
- SAVIN-WILLIAMS R. C.
- SAVIN-WILLIAMS R. C.
- SAVIN-WILLIAMS R. C.
- SAVIN-WILLIAMS R. C.
- SEIDMAN S.
- SOUZA E. R. de
- SPENCER C.
- TAMAM L.
- TAQUETTE S. R.
- TEIXEIRA-FILHO F. S.
- TIN L. G.
- VERDIER É.
- WELZER-LANG D.
- WILLIAMS W. L.
- ZWAHR-CASTRO J.
- Publication venue
- 'FapUNIFESP (SciELO)'
- Publication date
- Field of study
Differential and shared genetic effects on kidney function between diabetic and non-diabetic individuals
- Author
- Ahluwalia TS
- Akiyama M
- Arnlov J
- Asvold BO
- Bakker SJL
- Banas B
- Bansal N
- Bergler T
- Bergmann S
- Biggs ML
- Biino G
- Bochud M
- Boehnke M
- Boerwinkle E
- Boger CA
- Bottinger EP
- Boutin TS
- Brenner H
- Brumpton B
- Burkhardt R
- Campbell A
- Campbell H
- Carroll RJ
- Catamo E
- Chai JF
- Chambers JC
- Chasman DI
- Chee ML
- Cheng CY
- Christensen K
- Chu AY
- Citterio L
- Ciullo M
- Cocca M
- Concas MP
- Cook JP
- Coresh J
- Corre T
- Correa A
- Cusi D
- Czamara D
- Daw EW
- de Borst MH
- De Grandi A
- de Mutsert R
- de Vries APJ
- Dehghan A
- Delgado GE
- Devuyst O
- Dittrich K
- Divers J
- Dorajoo R
- Eckardt KU
- Ehret G
- Elliott P
- Endlich K
- Esko T
- Evans MK
- Feitosa MF
- Felicita SC
- Felix JF
- Feresin A
- Foo VHX
- Francescatto M
- Franke A
- Freedman BI
- Freitag-Wolf S
- Friedlander Y
- Fuchsberger C
- Gansevoort RT
- Gao H
- Gao X
- Gasparini P
- Gaziano JM
- Ghanbari M
- Ghasemi S
- Giedraitis V
- Gieger C
- Girotto G
- Gogele M
- Gordon SD
- Gorski M
- Graham SE
- Gudbjartsson DF
- Gudnason V
- Guilianini F
- Gunther F
- Guo F
- Halbritter J
- Hallan S
- Haller T
- Hamet P
- Hartman CA
- Hayward C
- Heid IM
- Heng CK
- Hicks AA
- Ho K
- Hofer E
- Holm H
- Hoppmann A
- Horn K
- Huang W
- Hung AM
- Hutri-Kahonen N
- Hveem K
- Hwang SJ
- Ikram MA
- Ising M
- Jaddoe VWV
- Jakobsdottir J
- Jonas JB
- Joshi PK
- Josyula NS
- Jung B
- Kahonen M
- Kamatani Y
- Kammerer CM
- Kanai M
- Kastarinen M
- Kavousi M
- Kerr SM
- Khor CC
- Kiess W
- Kirsten H
- Klaric L
- Kleber ME
- Koenig W
- Kooner JS
- Korner A
- Kottgen A
- Kovacs P
- Kramer BK
- Kramer H
- Kronenberg F
- Kubo M
- Kuokkanen M
- Kuusisto J
- La Bianca M
- Laakso M
- Lange LA
- Langefeld CD
- Lanzani C
- Launer LJ
- Lee JJM
- Lehtimaki T
- Li HT
- Li M
- Li Y
- Lieb W
- Lim SC
- Lind L
- Lindgren CM
- Liu JJ
- Loeffler M
- Loos RJF
- Lucae S
- Lukas MA
- Lyytikainen LP
- Magi R
- Magnusson PKE
- Mahajan A
- Manunta P
- Marten J
- Martin NG
- Martins J
- Marz W
- Mascalzoni D
- Matsuda K
- Meitinger T
- Melander O
- Metspalu A
- Milaneschi Y
- Miliku K
- Mishra PP
- Mohlke KL
- Mononen N
- Montgomery GW
- Mook-Kanamori DO
- Morgan A
- Morris AP
- Mychaleckyj JC
- Nadkarni GN
- Nalls MA
- Nauck M
- Nikus K
- Ning B
- Nolte IM
- Noordam R
- Nutile T
- O'Connell J
- O'Donoghue ML
- Okada Y
- Olafsson I
- Oldehinkel AJ
- Orho-Melander M
- Padmanabhan S
- Palmer ND
- Parsa A
- Patil SB
- Pattaro C
- Pendergrass SA
- Penninx BWJH
- Perola M
- Peters A
- Phillips LS
- Pirastu N
- Piratsu M
- Pistis G
- Podgornaia AI
- Polasek O
- Pontali G
- Ponte B
- Porteous DJ
- Pramstaller PP
- Preuss MH
- Province MA
- Psaty BM
- Rabelink TJ
- Raffield LM
- Raitakari OT
- Rasheed H
- Reilly DF
- Rice KM
- Ridker PM
- Rivadeneira F
- Rizzi F
- Robinson-Cohen C
- Rosenkranz AR
- Rossing P
- Rotter JI
- Rowan BX
- Rudan I
- Rueedi R
- Ruggiero D
- Ryan KA
- Sabanayagam C
- Salomaa V
- Salvi E
- Schmidt H
- Schmidt R
- Scholz M
- Schottker B
- Schulz CA
- Schupf N
- Sedaghat S
- Shaffer CM
- Sieber KB
- Sim RZH
- Sim XL
- Smith AV
- Smith BH
- Snieder H
- Spedicati B
- Spracklen CN
- Stanzick KJ
- Stark KJ
- Stefansson K
- Strauch K
- Stringham HM
- Stumvoll M
- Sulem P
- Sveinbjornsson G
- Svensson PO
- Tai ES
- Tan NYQ
- Tao R
- Taylor KD
- Tayo B
- Teren A
- Teumer A
- Tham YC
- Thiery J
- Thio CHL
- Thomas LF
- Thorsteinsdottir U
- Tin A
- Toniolo D
- Tonjes A
- Tremblay J
- Tzoulaki I
- Vaccargiu S
- van Dam RM
- van der Harst P
- van der Most PJ
- Vanderwerff BR
- Verweij N
- Vitart V
- Vogelezang S
- Volker U
- Vollenweider P
- Waeber G
- Waldenberger M
- Wallentin L
- Wang CL
- Wang YX
- Waterworth DM
- Wei WB
- White HD
- Whitfield JB
- Willer CJ
- Wilson JF
- Winkler TW
- Wojczynski MK
- Wong TY
- Wuttke M
- Xu J
- Yang Q
- Yasuda M
- Yerges-Armstrong LM
- Yu Z
- Zhang WH
- Zonderman AB
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- 27/10/2022
- Field of study
A large-scale GWAS provides insight on diabetes-dependent genetic effects on the glomerular filtration rate, a common metric to monitor kidney health in disease.Reduced glomerular filtration rate (GFR) can progress to kidney failure. Risk factors include genetics and diabetes mellitus (DM), but little is known about their interaction. We conducted genome-wide association meta-analyses for estimated GFR based on serum creatinine (eGFR), separately for individuals with or without DM (nDM = 178,691, nnoDM = 1,296,113). Our genome-wide searches identified (i) seven eGFR loci with significant DM/noDM-difference, (ii) four additional novel loci with suggestive difference and (iii) 28 further novel loci (including CUBN) by allowing for potential difference. GWAS on eGFR among DM individuals identified 2 known and 27 potentially responsible loci for diabetic kidney disease. Gene prioritization highlighted 18 genes that may inform reno-protective drug development. We highlight the existence of DM-only and noDM-only effects, which can inform about the target group, if respective genes are advanced as drug targets. Largely shared effects suggest that most drug interventions to alter eGFR should be effective in DM and noDM.</p