Genome-Wide Meta-Analysis of Five Asian Cohorts Identifies PDGFRA as a Susceptibility Locus for Corneal Astigmatism: e1002402
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. The...
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| Veröffentlicht in: | PLoS genetics 2011-12, Vol.7 (12) |
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| creator | Fan, Qiao Zhou, Xin Khor, Chiea-Chuen Cheng, Ching-Yu Goh, Liang-Kee Sim, Xueling Tay, Wan-Ting Li, Yi-Ju Ong, Rick Twee-Hee Suo, Chen Cornes, Belinda Ikram, Mohammad Kamran Chia, Kee-Seng Seielstad, Mark Liu, Jianjun Vithana, Eranga Young, Terri L Tai, E-Shyong Wong, Tien-Yin Aung, Tin Teo, Yik-Ying Saw, Seang-Mei |
| description | 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. |
| doi_str_mv | 10.1371/journal.pgen.1002402 |
| format | Article |
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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.</description><identifier>ISSN: 1553-7390</identifier><identifier>EISSN: 1553-7404</identifier><identifier>DOI: 10.1371/journal.pgen.1002402</identifier><language>eng</language><publisher>San Francisco: Public Library of Science</publisher><subject>Biomedical research ; Councils ; Families & family life ; Genomes ; Meta-analysis ; Minority & ethnic groups ; Population ; Studies</subject><ispartof>PLoS genetics, 2011-12, Vol.7 (12)</ispartof><rights>2011 Fan et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited: Fan Q, Zhou X, Khor C-C, Cheng C-Y, Goh L-K, et al. 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Meta-Analysis of Five Asian Cohorts Identifies PDGFRA as a Susceptibility Locus for Corneal Astigmatism: e1002402</atitle><jtitle>PLoS genetics</jtitle><date>2011-12-01</date><risdate>2011</risdate><volume>7</volume><issue>12</issue><issn>1553-7390</issn><eissn>1553-7404</eissn><abstract>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. 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| subjects | Biomedical research Councils Families & family life Genomes Meta-analysis Minority & ethnic groups Population Studies |
| title | Genome-Wide Meta-Analysis of Five Asian Cohorts Identifies PDGFRA as a Susceptibility Locus for Corneal Astigmatism: e1002402 |
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