Association of genetic variants with primary angle closure glaucoma in two different populations

dc.contributor.author Awadalla, Mona S
dc.contributor.author Thapa, Suman S
dc.contributor.author Hewitt, Alex W
dc.contributor.author Burdon, Kathryn Penelope
dc.contributor.author Craig, Jamie E
dc.date.accessioned 2016-02-25T04:08:15Z
dc.date.available 2016-02-25T04:08:15Z
dc.date.issued 2013
dc.description 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. en
dc.description.abstract PURPOSE: A recent large genome-wide association study (GWAS) identified multiple variants associated with primary angle-closure glaucoma (PACG). The present study investigated the role of these variants in two cohorts with PACG recruited from Australia and Nepal. METHOD: Patients with PACG and appropriate controls were recruited from eye clinics in Australia (n = 232 cases and n = 288 controls) and Nepal (n = 106 cases and 204 controls). Single nucleotide polymorphisms (SNPs) rs3753841 (COL11A1), rs1015213 (located between PCMTD1 and ST18), rs11024102 (PLEKHA7), and rs3788317 (TXNRD2) were selected and genotyped on the Sequenom. Analyses were conducted using PLINK and METAL. RESULTS: After adjustment for age and sex, SNP rs3753841 was found to be significantly associated with PACG in the Australian cohort (p = 0.017; OR = 1.34). SNPs rs1015213 (p = 0.014; OR 2.35) and rs11024102 (p = 0.039; OR 1.43) were significantly associated with the disease development in the Nepalese cohort. None of these SNPs survived Bonferroni correction (p = 0.05/4 = 0.013). However, in the combined analysis, of both cohorts, rs3753841 and rs1015213 showed significant association with p-values of 0.009 and 0.004, respectively both surviving Bonferroni correction. SNP rs11024102 showed suggestive association with PACG (p-value 0.035) and no association was found with rs3788317. CONCLUSION: The present results support the initial GWAS findings, and confirm the SNP's contribution to PACG. This is the first study to investigate these loci in both Australian Caucasian and Nepalese populations. en
dc.identifier.citation Awadalla MS, Thapa SS, Hewitt AW, Burdon KP, Craig JE. Association of genetic variants with primary angle closure glaucoma in two different populations. PLoS One. 2013 Jun 28;8(6):e67903. doi: 10.1371/journal.pone.0067903. en
dc.identifier.doi https://doi.org/10.1371/journal.pone.0067903 en
dc.identifier.issn 1932-6203
dc.identifier.uri http://hdl.handle.net/2328/35991
dc.language.iso en
dc.publisher Public Library of Science en
dc.relation http://purl.org/au-research/grants/NHMRC/480451 en
dc.relation http://purl.org/au-research/grants/NHMRC/595944 en
dc.relation.grantnumber NHMRC/480451 en
dc.relation.grantnumber NHMRC/595944 en
dc.rights Copyright 2013 Awadalla et al. en
dc.rights.holder Awadalla et al. en
dc.rights.license CC-BY
dc.subject Glaucoma en
dc.subject Genomics en
dc.subject Optometry en
dc.title Association of genetic variants with primary angle closure glaucoma in two different populations en
dc.type Article en
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