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Background  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.    Methods  A 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.    Results  The 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).    Conclusion  Our 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.

Polymorphism rs7555523 in transmembrane and coiled-coil domain 1 (TMCO1) is not a risk factor for primary open angle glaucoma in a Saudi cohort