Abstract
BackgroundWe investigated whether polymorphism rs7555523 (A > C) in human transmembrane and coiled-coil domain 1 (TMCO1) gene is a risk factor for primary open angle glaucoma (POAG) in a Saudi cohort.MethodsA cohort of 87 unrelated POAG cases and 94 control subjects from Saudi Arabia were genotyped using Taq-Man® assay. The association of genotypes with POAG and other glaucoma specific clinical indices was investigated.ResultsThe genotype and allele frequency of polymorphism rs7555523 at TMCO1 did not show any statistically significant association with POAG as compared to controls. The minor allele frequency was 0.103 in cases and 0.085 in controls. Except for awareness of glaucoma (p = 0.036), no significant association of genotypes were seen with glaucoma specific clinical indices such as intraocular pressure (IOP), cup/disc ratio and number of anti-glaucoma medications used. Binary logistic regression analysis (adjusted for age and gender) showed that age was a significant indicator for the development of glaucoma in this group (adjusted odds ratio = 1.2; 95 % confidence interval = 1.078–1.157; p < 0.001).ConclusionOur study was unable to replicate the findings of previously reported association for polymorphism rs7555523 in TMCO1 with POAG and related clinical indices such as IOP and cup/disc ratio indicating that this variant is not a risk factor for POAG in the Saudi cohort.
Highlights
We investigated whether polymorphism rs7555523 (A > C) in human transmembrane and coiled-coil domain 1 (TMCO1) gene is a risk factor for primary open angle glaucoma (POAG) in a Saudi cohort
We investigated the association of TMCO1 single nucleotide polymorphism (SNP) rs7555523 with POAG in a Saudi cohort
Given the complexity and genetic mutational heterogeneity of POAG recent genome-wide association study (GWAS) have identified a number of polymorphisms in multiple loci/genes including caveolin (CAV1/CAV2) [12], atonal homolog 7 (ATOH7) [13], sin oculis homeobox (SIX1/Sin oculis homeobox (SIX6)) [14], cyclin-dependent kinase inhibitor 2B antisense RNA 1 (CDKN2B-AS1) [6, 14] and TMCO1 [6, 14] that may contribute to the development and/or progression of POAG in various ethnic groups
Summary
We investigated whether polymorphism rs7555523 (A > C) in human transmembrane and coiled-coil domain 1 (TMCO1) gene is a risk factor for primary open angle glaucoma (POAG) in a Saudi cohort. A genome-wide association study (GWAS) in Australians of European descent identified a susceptibility locus at transmembrane and coiled-coil domains 1 (TMCO1) [6]. TMCO1 gene is located 7.6 MB upstream of the known POAG gene, myocilin C (MYOC), on chromosome 1q24.1. It encodes a transmembrane protein with a coiled-coil domain that may localize to the Golgi apparatus and endoplasmic reticulum or to the mitochondria in different cell types with a plausible role in apoptosis of RGCs [6, 8]. Precise role of TMCO1 in POAG pathogenesis is still unclear
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