Association Analysis of 14 SNPs in 6 Newly Identified POAG Susceptibility Genes/Loci

Abstract

Purpose: : Recently a number of new genes or chromosomal loci are reported for primary open angle glaucoma (POAG). We evaluate the associations of 14 single nucleotide polymorphisms (SNPs) in 6 newly reported genes/loci with POAG in a Chinese cohort of 617 study subjects.

Methods: : Five SNPs (rs867559, rs10733682, rs944103, rs7854658 and rs16929236) of the LMX1B gene, four (rs7037117, rs11536889, rs12377632 and rs1927907) of TLR4, SNPs rs693421, rs7081455 and rs7961953 on chromosomal regions 1q43, 10p12.31 and 12q21.31, respectively, and SNPs rs12994401 and rs1533428 on 2p16 were genotyped by Taqman assays in a cohort of 183 patients with high-tension glaucoma (HTG), 206 patients with normal-tension glaucoma (NTG) and 228 control subjects. Association analysis was performed with Chi-square test.

Results: : Unequivocal genotypes were obtained. SNP rs12377632 was deviated from Hardy-Weinberg equilibrium and was excluded from further data analysis. For the remaining 13 SNPs, none of them was significantly associated with HTG, NTG or the overall POAG (P>0.05).

Conclusions: : Our data suggests that polymorphisms in the 6 newly reported glaucoma susceptibility genes/loci are not associated with either HTG or NTG in the Chinese population. These findings provide further evidence supporting that the genetic susceptibility of POAG varied among different ethnic groups.

Keywords: genetics • gene mapping