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

<h4>Purpose</h4>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.<h4>Method&l...

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Autores principales:	Mona S Awadalla, Suman S Thapa, Alex W Hewitt, Kathryn P Burdon, Jamie E Craig
Formato:	article
Lenguaje:	EN
Publicado:	Public Library of Science (PLoS) 2013
Materias:	Medicine R Science Q
Acceso en línea:	https://doaj.org/article/a0b38d44aa3d4fdcb0968f1293aa588f
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spelling	oai:doaj.org-article:a0b38d44aa3d4fdcb0968f1293aa588f2021-11-18T07:39:22ZAssociation of genetic variants with primary angle closure glaucoma in two different populations.1932-620310.1371/journal.pone.0067903https://doaj.org/article/a0b38d44aa3d4fdcb0968f1293aa588f2013-01-01T00:00:00Zhttps://www.ncbi.nlm.nih.gov/pmc/articles/pmid/23840785/pdf/?tool=EBIhttps://doaj.org/toc/1932-6203<h4>Purpose</h4>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.<h4>Method</h4>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.<h4>Results</h4>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.<h4>Conclusion</h4>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.Mona S AwadallaSuman S ThapaAlex W HewittKathryn P BurdonJamie E CraigPublic Library of Science (PLoS)articleMedicineRScienceQENPLoS ONE, Vol 8, Iss 6, p e67903 (2013)
institution	DOAJ
collection	DOAJ
language	EN
topic	Medicine R Science Q
spellingShingle	Medicine R Science Q Mona S Awadalla Suman S Thapa Alex W Hewitt Kathryn P Burdon Jamie E Craig Association of genetic variants with primary angle closure glaucoma in two different populations.
description	<h4>Purpose</h4>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.<h4>Method</h4>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.<h4>Results</h4>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.<h4>Conclusion</h4>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.
format	article
author	Mona S Awadalla Suman S Thapa Alex W Hewitt Kathryn P Burdon Jamie E Craig
author_facet	Mona S Awadalla Suman S Thapa Alex W Hewitt Kathryn P Burdon Jamie E Craig
author_sort	Mona S Awadalla
title	Association of genetic variants with primary angle closure glaucoma in two different populations.
title_short	Association of genetic variants with primary angle closure glaucoma in two different populations.
title_full	Association of genetic variants with primary angle closure glaucoma in two different populations.
title_fullStr	Association of genetic variants with primary angle closure glaucoma in two different populations.
title_full_unstemmed	Association of genetic variants with primary angle closure glaucoma in two different populations.
title_sort	association of genetic variants with primary angle closure glaucoma in two different populations.
publisher	Public Library of Science (PLoS)
publishDate	2013
url	https://doaj.org/article/a0b38d44aa3d4fdcb0968f1293aa588f
work_keys_str_mv	AT monasawadalla associationofgeneticvariantswithprimaryangleclosureglaucomaintwodifferentpopulations AT sumansthapa associationofgeneticvariantswithprimaryangleclosureglaucomaintwodifferentpopulations AT alexwhewitt associationofgeneticvariantswithprimaryangleclosureglaucomaintwodifferentpopulations AT kathrynpburdon associationofgeneticvariantswithprimaryangleclosureglaucomaintwodifferentpopulations AT jamieecraig associationofgeneticvariantswithprimaryangleclosureglaucomaintwodifferentpopulations
_version_	1718423180232622080

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

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