Genetic Epidemiology, Translational Neurogenomics, Psychiatric Genetics and Statistical Genetics Laboratories investigate the pattern of disease in families, particularly identical and non-identical twins, to assess the relative importance of genes and environment in a variety of important health problems.
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PMID
25367360
TITLE
Genome-wide association study for refractive astigmatism reveals genetic co-determination with spherical equivalent refractive error: the CREAM consortium.
ABSTRACT
To identify genetic variants associated with refractive astigmatism in the general population, meta-analyses of genome-wide association studies were performed for: White Europeans aged at least 25 years (20 cohorts, N = 31,968); Asian subjects aged at least 25 years (7 cohorts, N = 9,295); White Europeans aged <25 years (4 cohorts, N = 5,640); and all independent individuals from the above three samples combined with a sample of Chinese subjects aged <25 years (N = 45,931). Participants were classified as cases with refractive astigmatism if the average cylinder power in their two eyes was at least 1.00 diopter and as controls otherwise. Genome-wide association analysis was carried out for each cohort separately using logistic regression. Meta-analysis was conducted using a fixed effects model. In the older European group the most strongly associated marker was downstream of the neurexin-1 (NRXN1) gene (rs1401327, P = 3.92E-8). No other region reached genome-wide significance, and association signals were lower for the younger European group and Asian group. In the meta-analysis of all cohorts, no marker reached genome-wide significance: The most strongly associated regions were, NRXN1 (rs1401327, P = 2.93E-07), TOX (rs7823467, P = 3.47E-07) and LINC00340 (rs12212674, P = 1.49E-06). For 34 markers identified in prior GWAS for spherical equivalent refractive error, the beta coefficients for genotype versus spherical equivalent, and genotype versus refractive astigmatism, were highly correlated (r = -0.59, P = 2.10E-04). This work revealed no consistent or strong genetic signals for refractive astigmatism; however, the TOX gene region previously identified in GWAS for spherical equivalent refractive error was the second most strongly associated region. Analysis of additional markers provided evidence supporting widespread genetic co-susceptibility for spherical and astigmatic refractive errors.
DATE PUBLISHED
2015 Feb
HISTORY
PUBSTATUS PUBSTATUSDATE
received 2014/04/14
accepted 2014/09/30
aheadofprint 2014/11/04
entrez 2014/11/05 06:00
pubmed 2014/11/05 06:00
medline 2015/04/18 06:00
AUTHORS
NAME COLLECTIVENAME LASTNAME FORENAME INITIALS AFFILIATION AFFILIATIONINFO
Li Q Li Qing Q National Human Genome Research Institute, National Institutes of Health, 333 Cassell Drive Suite 1200, Baltimore, MD, 21224, USA.
Wojciechowski R Wojciechowski Robert R
Simpson CL Simpson Claire L CL
Hysi PG Hysi Pirro G PG
Verhoeven VJ Verhoeven Virginie J M VJ
Ikram MK Ikram Mohammad Kamran MK
Höhn R Höhn René R
Vitart V Vitart Veronique V
Hewitt AW Hewitt Alex W AW
Oexle K Oexle Konrad K
Mäkelä KM Mäkelä Kari-Matti KM
MacGregor S MacGregor Stuart S
Pirastu M Pirastu Mario M
Fan Q Fan Qiao Q
Cheng CY Cheng Ching-Yu CY
St Pourcain B St Pourcain Beaté B
McMahon G McMahon George G
Kemp JP Kemp John P JP
Northstone K Northstone Kate K
Rahi JS Rahi Jugnoo S JS
Cumberland PM Cumberland Phillippa M PM
Martin NG Martin Nicholas G NG
Sanfilippo PG Sanfilippo Paul G PG
Lu Y Lu Yi Y
Wang YX Wang Ya Xing YX
Hayward C Hayward Caroline C
Polašek O Polašek Ozren O
Campbell H Campbell Harry H
Bencic G Bencic Goran G
Wright AF Wright Alan F AF
Wedenoja J Wedenoja Juho J
Zeller T Zeller Tanja T
Schillert A Schillert Arne A
Mirshahi A Mirshahi Alireza A
Lackner K Lackner Karl K
Yip SP Yip Shea Ping SP
Yap MK Yap Maurice K H MK
Ried JS Ried Janina S JS
Gieger C Gieger Christian C
Murgia F Murgia Federico F
Wilson JF Wilson James F JF
Fleck B Fleck Brian B
Yazar S Yazar Seyhan S
Vingerling JR Vingerling Johannes R JR
Hofman A Hofman Albert A
Uitterlinden A Uitterlinden André A
Rivadeneira F Rivadeneira Fernando F
Amin N Amin Najaf N
Karssen L Karssen Lennart L
Oostra BA Oostra Ben A BA
Zhou X Zhou Xin X
Teo YY Teo Yik-Ying YY
Tai ES Tai E Shyong ES
Vithana E Vithana Eranga E
Barathi V Barathi Veluchamy V
Zheng Y Zheng Yingfeng Y
Siantar RG Siantar Rosalynn Grace RG
Neelam K Neelam Kumari K
Shin Y Shin Youchan Y
Lam J Lam Janice J
Yonova-Doing E Yonova-Doing Ekaterina E
Venturini C Venturini Cristina C
Hosseini SM Hosseini S Mohsen SM
Wong HS Wong Hoi-Suen HS
Lehtimäki T Lehtimäki Terho T
Kähönen M Kähönen Mika M
Raitakari O Raitakari Olli O
Timpson NJ Timpson Nicholas J NJ
Evans DM Evans David M DM
Khor CC Khor Chiea-Chuen CC
Aung T Aung Tin T
Young TL Young Terri L TL
Mitchell P Mitchell Paul P
Klein B Klein Barbara B
van Duijn CM van Duijn Cornelia M CM
Meitinger T Meitinger Thomas T
Jonas JB Jonas Jost B JB
Baird PN Baird Paul N PN
Mackey DA Mackey David A DA
Wong TY Wong Tien Yin TY
Saw SM Saw Seang-Mei SM
Pärssinen O Pärssinen Olavi O
Stambolian D Stambolian Dwight D
Hammond CJ Hammond Christopher J CJ
Klaver CC Klaver Caroline C W CC
Williams C Williams Cathy C
Paterson AD Paterson Andrew D AD
Bailey-Wilson JE Bailey-Wilson Joan E JE
Guggenheim JA Guggenheim Jeremy A JA
CREAM Consortium
INVESTIGATORS
LASTNAME FORENAME INITIALS AFFILIATION
Meguro Akira A
Wright Alan F AF
Hewitt Alex W AW
Young Alvin L AL
Veluchamy Amutha Barathi AB
Metspalu Andres A
Paterson Andrew D AD
Döring Angela A
Khawaja Anthony P AP
Klein Barbara E BE
Pourcain Beate St BS
Oostra Ben A BA
Fleck Brian B
Klaver Caroline C CC
Hayward Caroline C
Williams Cathy C
Delcourt Cécile C
Maubaret Cecilia C
Pang Chi Pui CP
Khor Chiea-Chuen CC
Cheng Ching-Yu CY
Gieger Christian C
Hammond Christopher J CJ
Simpson Claire L CL
van Duijn Cornelia M CM
Ho Daniel W H DW
Mackey David A DA
Evans David M DM
Stambolian Dwight D
Chew Emily E
Tai E-Shyong ES
Mihailov Evelin E
Murgia Federico F
Smith George Davey GD
McMahon George G
Biino Ginevra G
Campbell Harry H
Rudan Igor I
Seppala Ilkka I
Kaprio Jaakko J
Wilson James F JF
Craig Jamie E JE
Polling Jan Roelof JR
Ried Janina S JS
Tideman Jan-Willem JW
Guggenheim Jeremy A JA
Fondran Jeremy R JR
Wang Jie Jin JJ
Liao Jiemin J
Zhao Jing Hua JH
Xie Jing J
Wilson Joan E Bailey JE
Kemp John P JP
Jonas Jost B JB
Rahi Jugnoo S JS
Wedenoja Juho J
Mäkelä Kari-Matti KM
Burdon Kathryn P KP
Khaw Kay-Tee KT
Yamashiro Kenji K
Oexle Konrad K
Portas Laura L
Farrer Lindsay L
Raffel Leslie J LJ
Chen Li Jia LJ
Xu Liang L
Ikram M Kamran M
Deangelis Margaret M MM
Morrison Margaux M
Schache Maria M
Pirastu Mario M
Cotch Mary-Frances MF
Miyake Masahiro M
Yap Maurice K H MK
Fossarello Maurizio M
Kähönen Mika M
He Mingguang M
Yoshimura Nagahisa N
Martin Nicholas G NG
Timpson Nicholas J NJ
Wareham Nick J NJ
Mizuki Nobuhisa N
Pfeiffer Norbert N
Pärssinen Olavi O
Raitakari Olli O
Polasek Ozren O
Tam Pancy O PO
Foster Paul J PJ
Mitchell Paul P
Baird Paul N PN
Chen Peng P
Hysi Pirro G PG
Gharahkhani Puya P
Fan Qiao Q
Höhn René R
Fogarty Rhys D RD
Luben Robert N RN
Igo Robert P RP
Wojciechowski Robert R
Klein Ronald R
Hosseini S Mohsen S
Janmahasatian Sarayut S
Saw Seang-Mei SM
Yazar Seyhan S
Yip Shea Ping SP
Feng Sheng S
Panda-Jonas Songhomitra S
MacGregor Stuart S
Iyengar Sudha K SK
Lass Jonathan H JH
Rantanen Taina T
Lehtimäki Terho T
Young Terri L TL
Meitinger Thomas T
Wong Tien Yin TY
Aung Tin T
Haller Toomas T
Vitart Veronique V
Nangia Vinay V
Verhoeven Virginie J M VJ
Jhanji Vishal V
Chen Wei W
Zhou Xiangtian X
Guo Xiaobo X
Li Xiaohui X
Wang Ya Xing YX
Lu Yi Y
Teo Yik-Ying YY
Vatavuk Zoran Z
JOURNAL
VOLUME: 134
ISSUE: 2
TITLE: Human genetics
ISOABBREVIATION: Hum. Genet.
YEAR: 2015
MONTH: Feb
DAY:
MEDLINEDATE:
SEASON:
CITEDMEDIUM: Internet
ISSN: 1432-1203
ISSNTYPE: Electronic
MEDLINE JOURNAL
MEDLINETA: Hum Genet
COUNTRY: Germany
ISSNLINKING: 0340-6717
NLMUNIQUEID: 7613873
PUBLICATION TYPE
PUBLICATIONTYPE TEXT
Journal Article
Meta-Analysis
COMMENTS AND CORRECTIONS
REFTYPE REFSOURCE REFPMID NOTE
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GRANTS
GRANTID AGENCY COUNTRY
CDF-2009-02-35 Department of Health United Kingdom
CZB/4/438 Chief Scientist Office United Kingdom
CZB/4/710 Chief Scientist Office United Kingdom
K08 EY022943 NEI NIH HHS United States
MC_PC_15018 Medical Research Council United Kingdom
MC_PC_U127561128 Medical Research Council United Kingdom
MC_UU_12013/3 Medical Research Council United Kingdom
R01 EY014685 NEI NIH HHS United States
SRF/01/010 Department of Health United Kingdom
GENERAL NOTE
KEYWORDS
MESH HEADINGS
DESCRIPTORNAME QUALIFIERNAME
Adult
Age Factors
Asian Continental Ancestry Group
Astigmatism pathology
Cell Adhesion Molecules, Neuronal genetics
Cohort Studies genetics
European Continental Ancestry Group genetics
Female genetics
Genetic Markers genetics
Genome-Wide Association Study genetics
High Mobility Group Proteins genetics
Humans genetics
Male genetics
Middle Aged genetics
Nerve Tissue Proteins genetics
SUPPLEMENTARY MESH
GENE SYMBOLS
CHEMICALS
REGISTRYNUMBER NAMEOFSUBSTANCE
0 Cell Adhesion Molecules, Neuronal
0 Genetic Markers
0 High Mobility Group Proteins
0 NRXN1 protein, human
0 Nerve Tissue Proteins
0 TOX protein, human
OTHER ID's
OTHERID SOURCE
PMC4291519 NLM
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