The SPARC-related modular calcium binding protein 2 (SMOC2) gene polymorphism in primary glaucoma: a case-control study

Najwa Al-Dabbagh,1 Hamoud Al-Shahrani,1 Nourah Al-Dohayan,1 Md Mustafa,2 Misbahul Arfin,2 Abdulrahman K Al-Asmari2 1Department of Ophthalmology, 2Research Center, Prince Sultan Military Medical City, Riyadh, Saudi Arabia Abstract: Primary glaucomas are among the most common eye diseases t...

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Autores principales:	Al-Dabbagh N, Al-Shahrani H, Al-Dohayan N, Mustafa M, Arfin M, Al-Asmari AK
Formato:	article
Lenguaje:	EN
Publicado:	Dove Medical Press 2017
Materias:	glaucoma SMOC2 polymorphism genotyping genetics Saudi Ophthalmology RE1-994
Acceso en línea:	https://doaj.org/article/76ebfe5e68f44224a7d85ea8f7850dfa
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spelling	oai:doaj.org-article:76ebfe5e68f44224a7d85ea8f7850dfa2021-12-02T00:57:38ZThe SPARC-related modular calcium binding protein 2 (SMOC2) gene polymorphism in primary glaucoma: a case-control study1177-5483https://doaj.org/article/76ebfe5e68f44224a7d85ea8f7850dfa2017-03-01T00:00:00Zhttps://www.dovepress.com/the-sparc-related-modular-calcium-binding-protein-2-smoc2-gene-polymor-peer-reviewed-article-OPTHhttps://doaj.org/toc/1177-5483Najwa Al-Dabbagh,1 Hamoud Al-Shahrani,1 Nourah Al-Dohayan,1 Md Mustafa,2 Misbahul Arfin,2 Abdulrahman K Al-Asmari2 1Department of Ophthalmology, 2Research Center, Prince Sultan Military Medical City, Riyadh, Saudi Arabia Abstract: Primary glaucomas are among the most common eye diseases that may potentially result in bilateral blindness. Both genetics and environmental factors are reported to be involved in the etiology of primary glaucomas. Secreted protein acidic and rich in cysteine (SPARC)-related modular calcium binding protein 2 (SMOC2) is a matricellular glycoprotein encoded by the SMOC2 gene and known to regulate the expression of extracellular matrix (ECM) proteins and matrix metalloproteinases (MMPs), which play an important role in the pathogenesis of primary glaucomas. The frequencies of alleles and genotypes of SMOC2 variants were examined in 406 Saudi subjects, including primary open angle glaucoma (POAG, n=140) and primary angle closure glaucoma (PACG, n=64) patients and 202 matched healthy controls using the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) technique. Genotyping of SMOC2 polymorphism (rs13208776) revealed a significantly higher frequency of the heterozygous genotype GA (P<0.01) and a lower frequency of wild type GG genotype (P=0.05) in glaucoma patients compared to the controls. Upon stratification of the patients on the basis of types of glaucoma, PACG patients had a significantly higher frequency of GA genotype as compared to the controls (P<0.01), whereas there was no significant difference between the POAG patient and control groups in frequencies of SMOC2 alleles and genotypes. Further, there was no significant difference in frequency distribution of alleles and genotypes between male and female patients. This study indicates that the GA genotype of SMOC2 (G>A) polymorphism is significantly associated with PACG and may be a risk factor. However, further large-scale studies in the Saudi population as well as in other ethnic populations are needed to confirm this association. Keywords: glaucoma, SMOC2, polymorphism, genotyping, genetics, SaudiAl-Dabbagh NAl-Shahrani HAl-Dohayan NMustafa MArfin MAl-Asmari AKDove Medical PressarticleglaucomaSMOC2polymorphismgenotypinggeneticsSaudiOphthalmologyRE1-994ENClinical Ophthalmology, Vol Volume 11, Pp 549-555 (2017)
institution	DOAJ
collection	DOAJ
language	EN
topic	glaucoma SMOC2 polymorphism genotyping genetics Saudi Ophthalmology RE1-994
spellingShingle	glaucoma SMOC2 polymorphism genotyping genetics Saudi Ophthalmology RE1-994 Al-Dabbagh N Al-Shahrani H Al-Dohayan N Mustafa M Arfin M Al-Asmari AK The SPARC-related modular calcium binding protein 2 (SMOC2) gene polymorphism in primary glaucoma: a case-control study
description	Najwa Al-Dabbagh,1 Hamoud Al-Shahrani,1 Nourah Al-Dohayan,1 Md Mustafa,2 Misbahul Arfin,2 Abdulrahman K Al-Asmari2 1Department of Ophthalmology, 2Research Center, Prince Sultan Military Medical City, Riyadh, Saudi Arabia Abstract: Primary glaucomas are among the most common eye diseases that may potentially result in bilateral blindness. Both genetics and environmental factors are reported to be involved in the etiology of primary glaucomas. Secreted protein acidic and rich in cysteine (SPARC)-related modular calcium binding protein 2 (SMOC2) is a matricellular glycoprotein encoded by the SMOC2 gene and known to regulate the expression of extracellular matrix (ECM) proteins and matrix metalloproteinases (MMPs), which play an important role in the pathogenesis of primary glaucomas. The frequencies of alleles and genotypes of SMOC2 variants were examined in 406 Saudi subjects, including primary open angle glaucoma (POAG, n=140) and primary angle closure glaucoma (PACG, n=64) patients and 202 matched healthy controls using the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) technique. Genotyping of SMOC2 polymorphism (rs13208776) revealed a significantly higher frequency of the heterozygous genotype GA (P<0.01) and a lower frequency of wild type GG genotype (P=0.05) in glaucoma patients compared to the controls. Upon stratification of the patients on the basis of types of glaucoma, PACG patients had a significantly higher frequency of GA genotype as compared to the controls (P<0.01), whereas there was no significant difference between the POAG patient and control groups in frequencies of SMOC2 alleles and genotypes. Further, there was no significant difference in frequency distribution of alleles and genotypes between male and female patients. This study indicates that the GA genotype of SMOC2 (G>A) polymorphism is significantly associated with PACG and may be a risk factor. However, further large-scale studies in the Saudi population as well as in other ethnic populations are needed to confirm this association. Keywords: glaucoma, SMOC2, polymorphism, genotyping, genetics, Saudi
format	article
author	Al-Dabbagh N Al-Shahrani H Al-Dohayan N Mustafa M Arfin M Al-Asmari AK
author_facet	Al-Dabbagh N Al-Shahrani H Al-Dohayan N Mustafa M Arfin M Al-Asmari AK
author_sort	Al-Dabbagh N
title	The SPARC-related modular calcium binding protein 2 (SMOC2) gene polymorphism in primary glaucoma: a case-control study
title_short	The SPARC-related modular calcium binding protein 2 (SMOC2) gene polymorphism in primary glaucoma: a case-control study
title_full	The SPARC-related modular calcium binding protein 2 (SMOC2) gene polymorphism in primary glaucoma: a case-control study
title_fullStr	The SPARC-related modular calcium binding protein 2 (SMOC2) gene polymorphism in primary glaucoma: a case-control study
title_full_unstemmed	The SPARC-related modular calcium binding protein 2 (SMOC2) gene polymorphism in primary glaucoma: a case-control study
title_sort	sparc-related modular calcium binding protein 2 (smoc2) gene polymorphism in primary glaucoma: a case-control study
publisher	Dove Medical Press
publishDate	2017
url	https://doaj.org/article/76ebfe5e68f44224a7d85ea8f7850dfa
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The SPARC-related modular calcium binding protein 2 (SMOC2) gene polymorphism in primary glaucoma: a case-control study

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