Please use this identifier to cite or link to this item: https://doi.org/10.1038/ncomms11008
Title: Meta-analysis of gene-environment-wide association scans accounting for education level identifies additional loci for refractive error
Authors: Fan Q. 
Verhoeven V.J.M.
Wojciechowski R.
Barathi V.A. 
Hysi P.G.
Guggenheim J.A.
Hohn R.
Vitart V.
Khawaja A.P.
Yamashiro K.
Hosseini S.M.
Lehtimaki T.
Lu Y.
Haller T.
Xie J.
Delcourt C.
Pirastu M.
Wedenoja J.
Gharahkhani P.
Venturini C.
Miyake M.
Hewitt A.W.
Guo X.
Mazur J.
Huffman J.E.
Williams K.M.
Polasek O.
Campbell H.
Rudan I.
Vatavuk Z.
Wilson J.F.
Joshi P.K.
McMahon G.
St Pourcain B.
Evans D.M.
Simpson C.L.
Schwantes-An T.-H.
Igo R.P.
Mirshahi A.
Cougnard-Gregoire A.
Bellenguez C.
Blettner M.
Raitakari O.
Kahonen M.
Seppala I.
Zeller T.
Meitinger T.
Ried J.S.
Gieger C.
Portas L.
Van Leeuwen E.M.
Amin N.
Uitterlinden A.G.
Rivadeneira F.
Hofman A.
Vingerling J.R.
Wang Y.X.
Wang X.
Tai-Hui Boh E.
Ikram M.K.
Sabanayagam C.
Gupta P.
Tan V.
Zhou L.
Ho C.E.H.
Lim W.
Beuerman R.W.
Siantar R.
Tai E.-S.
Vithana E.
Mihailov E.
Khor C.-C.
Hayward C.
Luben R.N.
Foster P.J.
Klein B.E.K.
Klein R.
Wong H.-S.
Mitchell P.
Metspalu A.
Aung T.
Young T.L.
He M.
Parssinen O.
Van Duijn C.M.
Jin Wang J.
Williams C.
Jonas J.B.
Teo Y.-Y.
MacKey D.A.
Oexle K.
Yoshimura N.
Paterson A.D.
Pfeiffer N.
Wong T.-Y.
Baird P.N.
Stambolian D.
Wilson J.E.B.
Cheng C.-Y.
Hammond C.J.
Klaver C.C.W.
Saw S.-M.
Rahi J.S.
Korobelnik J.-F.
Kemp J.P.
Timpson N.J.
Smith G.D.
Craig J.E.
Burdon K.P.
Fogarty R.D.
Iyengar S.K.
Chew E.
Janmahasatian S.
Martin N.G.
MacGregor S.
Xu L.
Schache M.
Nangia V.
Panda-Jonas S.
Wright A.F.
Fondran J.R.
Lass J.H.
Feng S.
Zhao J.H.
Khaw K.-T.
Wareham N.J.
Rantanen T.
Kaprio J.
Pang C.P.
Chen L.J.
Tam P.O.
Jhanji V.
Young A.L.
Doring A.
Raffel L.J.
Cotch M.-F.
Li X., Yip S.P.
Yap M.K.H.
Biino G.
Vaccargiu S.
Fossarello M.
Fleck B.
Yazar S.
Tideman J.W.L.
Tedja M.
Deangelis M.M.
Morrison M.
Farrer L.
Zhou X.
Chen W.
Mizuki N.
Meguro A.
Makela K.M.
Keywords: ancestry
education
error analysis
eye
eye disease
gene expression
genome
genotype-environment interaction
meta-analysis
polymorphism
public health
refraction
adult
AREG gene
ARID2 SNAT1 gene
Article
Asian
DIS3L MAP2K1 gene
educational status
European
FAM150B ACP1 gene
FBN1 gene
GABRR1 gene
gene
gene expression
gene identification
gene linkage disequilibrium
gene locus
genetic association
genotype
genotype environment interaction
human
LINC00340 gene
major clinical study
myopia
PDE10A gene
phenotype
single nucleotide polymorphism
SLC14A2 gene
Asian continental ancestry group
Caucasian
environment
gene expression profiling
genetic predisposition
genetics
genome-wide association study
meta analysis
refraction error
single nucleotide polymorphism
Asia
Europe
Asian Continental Ancestry Group
Educational Status
Environment
European Continental Ancestry Group
Gene Expression Profiling
Genetic Loci
Genetic Predisposition to Disease
Genome-Wide Association Study
Humans
Polymorphism, Single Nucleotide
Refractive Errors
Issue Date: 2016
Publisher: Nature Publishing Group
Citation: Fan Q., Verhoeven V.J.M., Wojciechowski R., Barathi V.A., Hysi P.G., Guggenheim J.A., Hohn R., Vitart V., Khawaja A.P., Yamashiro K., Hosseini S.M., Lehtimaki T., Lu Y., Haller T., Xie J., Delcourt C., Pirastu M., Wedenoja J., Gharahkhani P., Venturini C., Miyake M., Hewitt A.W., Guo X., Mazur J., Huffman J.E., Williams K.M., Polasek O., Campbell H., Rudan I., Vatavuk Z., Wilson J.F., Joshi P.K., McMahon G., St Pourcain B., Evans D.M., Simpson C.L., Schwantes-An T.-H., Igo R.P., Mirshahi A., Cougnard-Gregoire A., Bellenguez C., Blettner M., Raitakari O., Kahonen M., Seppala I., Zeller T., Meitinger T., Ried J.S., Gieger C., Portas L., Van Leeuwen E.M., Amin N., Uitterlinden A.G., Rivadeneira F., Hofman A., Vingerling J.R., Wang Y.X., Wang X., Tai-Hui Boh E., Ikram M.K., Sabanayagam C., Gupta P., Tan V., Zhou L., Ho C.E.H., Lim W., Beuerman R.W., Siantar R., Tai E.-S., Vithana E., Mihailov E., Khor C.-C., Hayward C., Luben R.N., Foster P.J., Klein B.E.K., Klein R., Wong H.-S., Mitchell P., Metspalu A., Aung T., Young T.L., He M., Parssinen O., Van Duijn C.M., Jin Wang J., Williams C., Jonas J.B., Teo Y.-Y., MacKey D.A., Oexle K., Yoshimura N., Paterson A.D., Pfeiffer N., Wong T.-Y., Baird P.N., Stambolian D., Wilson J.E.B., Cheng C.-Y., Hammond C.J., Klaver C.C.W., Saw S.-M., Rahi J.S., Korobelnik J.-F., Kemp J.P., Timpson N.J., Smith G.D., Craig J.E., Burdon K.P., Fogarty R.D., Iyengar S.K., Chew E., Janmahasatian S., Martin N.G., MacGregor S., Xu L., Schache M., Nangia V., Panda-Jonas S., Wright A.F., Fondran J.R., Lass J.H., Feng S., Zhao J.H., Khaw K.-T., Wareham N.J., Rantanen T., Kaprio J., Pang C.P., Chen L.J., Tam P.O., Jhanji V., Young A.L., Doring A., Raffel L.J., Cotch M.-F., Li X., Yip S.P., Yap M.K.H., Biino G., Vaccargiu S., Fossarello M., Fleck B., Yazar S., Tideman J.W.L., Tedja M., Deangelis M.M., Morrison M., Farrer L., Zhou X., Chen W., Mizuki N., Meguro A., Makela K.M. (2016). Meta-analysis of gene-environment-wide association scans accounting for education level identifies additional loci for refractive error. Nature Communications 7 : 11008. ScholarBank@NUS Repository. https://doi.org/10.1038/ncomms11008
Abstract: Myopia is the most common human eye disorder and it results from complex genetic and environmental causes. The rapidly increasing prevalence of myopia poses a major public health challenge. Here, the CREAM consortium performs a joint meta-analysis to test single-nucleotide polymorphism (SNP) main effects and SNP × education interaction effects on refractive error in 40,036 adults from 25 studies of European ancestry and 10,315 adults from 9 studies of Asian ancestry. In European ancestry individuals, we identify six novel loci (FAM150B-ACP1, LINC00340, FBN1, DIS3L-MAP2K1, ARID2-SNAT1 and SLC14A2) associated with refractive error. In Asian populations, three genome-wide significant loci AREG, GABRR1 and PDE10A also exhibit strong interactions with education (P<8.5 × 10-5), whereas the interactions are less evident in Europeans. The discovery of these loci represents an important advance in understanding how gene and environment interactions contribute to the heterogeneity of myopia.
Source Title: Nature Communications
URI: https://scholarbank.nus.edu.sg/handle/10635/174980
ISSN: 20411723
DOI: 10.1038/ncomms11008
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