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Association of known common genetic variants with primary open angle, primary angle closure, and pseudoexfoliation glaucoma in Pakistani cohorts.

作者信息

Micheal Shazia, Ayub Humaira, Khan Muhammad Imran, Bakker Bjorn, Schoenmaker-Koller Frederieke E, Ali Mahmood, Akhtar Farah, Khan Wajid Ali, Qamar Raheel, den Hollander Anneke I

机构信息

Department of Ophthalmology, Radboud University Medical Centre, Nijmegen, the Netherlands.

Department of Ophthalmology, Radboud University Medical Centre, Nijmegen, the Netherlands ; Department of Biosciences, COMSATS Institute of Information Technology, Islamabad, Pakistan.

出版信息

Mol Vis. 2014 Nov 4;20:1471-9. eCollection 2014.


DOI:
PMID:25489222
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC4225136/
Abstract

PURPOSE: Despite the different etiology of primary open angle glaucoma (POAG), primary angle closure glaucoma (PACG), and pseudoexfoliative glaucoma (PEXG), several studies have suggested that these forms of glaucoma have overlapping genetic risk factors. Therefore, the aim of this study was to evaluate the role of genetic variants recently associated with POAG in different types of glaucoma in Pakistani POAG, PACG, and PEXG patient cohorts. METHODS: Six variants in CDKN2B-AS1 (rs4977756), CDKN2B (rs1063192), ATOH7 (rs1900004), CAV1 (rs4236601), TMCO1 (rs4656461), and SIX1 (rs10483727) were genotyped using TaqMan assays. A total of 513 unrelated patients with glaucoma (268 with POAG, 125 with PACG, and 120 with PEXG) and 233 healthy controls were included in the study. Genotypic and allelic associations were analyzed with a chi-square test. RESULTS: The frequency of the G allele of TMCO1 rs4656461 was significantly lower in the patients with POAG (p=0.003; OR [odds ratio]=0.57), PACG (p=0.009; OR=0.52), and PEXG (p=0.01; OR=0.54) compared to the control individuals. The T allele of ATOH7 rs1900004 was observed less frequently in the patients with PACG (p=0.03; OR=0.69) compared to the control individuals. The A allele of CAV1 rs4236601 was found more frequently in the patients with POAG (p=0.008; OR=1.49) compared to the control individuals. This study demonstrates that the TMCO1 rs4656461 variant is associated with POAG, PACG and PEXG in the Pakistani population. Our study was unable to confirm previous associations reported for variants in CDKN2B-AS1, CDKN2B, and SIX1 with any type of glaucoma. CONCLUSIONS: In conclusion, we found consistent evidence of the significant association of three common variants in TMCO1, ATOH7, and CAV1.

摘要

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Association of known common genetic variants with primary open angle, primary angle closure, and pseudoexfoliation glaucoma in Pakistani cohorts.

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[2]
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[4]
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[5]
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[6]
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[7]
The association between ethnicity, environmental and lifestyle factors and chronic disease in the development of pseudoexfoliation syndrome.

Pak J Med Sci. 2021

[8]
Genetic association between CDKN2B/CDKN2B-AS1 gene polymorphisms with primary glaucoma in a North Indian cohort: an original study and an updated meta-analysis.

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[9]
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[10]
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本文引用的文献

[1]
Global prevalence of glaucoma and projections of glaucoma burden through 2040: a systematic review and meta-analysis.

Ophthalmology. 2014-6-26

[2]
Association of single-nucleotide polymorphism rs4236601 near caveolin 1 and 2 with primary open-angle glaucoma: a meta-analysis.

Clin Exp Ophthalmol. 2014-8

[3]
Association of genetic variants in the TMCO1 gene with clinical parameters related to glaucoma and characterization of the protein in the eye.

Invest Ophthalmol Vis Sci. 2012-7-24

[4]
Genome-wide association study of primary open angle glaucoma risk and quantitative traits.

Mol Vis. 2012

[5]
Common genetic determinants of intraocular pressure and primary open-angle glaucoma.

PLoS Genet. 2012-5-3

[6]
Clinical implications of old and new genes for open-angle glaucoma.

Ophthalmology. 2011-8-27

[7]
Genome-wide association study identifies susceptibility loci for open angle glaucoma at TMCO1 and CDKN2B-AS1.

Nat Genet. 2011-5-1

[8]
Genetic variants associated with optic nerve vertical cup-to-disc ratio are risk factors for primary open angle glaucoma in a US Caucasian population.

Invest Ophthalmol Vis Sci. 2011-3-28

[9]
Chromosome 7q31 POAG locus: ocular expression of caveolins and lack of association with POAG in a US cohort.

Mol Vis. 2011-2-8

[10]
Genome-wide association studies in Asians confirm the involvement of ATOH7 and TGFBR3, and further identify CARD10 as a novel locus influencing optic disc area.

Hum Mol Genet. 2011-2-9

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