SNTB1 and ZFHX1B Gene Polymorphisms in Northern Chinese Han Population with High Myopia

Abstract Aim To explore the association between SNTB1 and ZFHX1B gene polymorphisms with high myopia (HM) in northern Chinese Han population Materials and Methods This study used case- control method and included 457 HM and 860 normal control subjects from northern Chinese Han participants. The four Single nucleotide polymorphisms (SNPs) (rs7839488, rs4395927, rs4455882,and rs6469937) in SNTB1 gene and one SNP in ZFHX1B gene(rs13382811 were chosen with two previous GWAS studies. We compared to assess the association of allelic frequencies and haplotypes between HM with normal controls. The allele and genotype distributions of SNPs in SNTB1 and ZFHX1B gene were compared between two groups by Chi-square test and Fisher exact correction. The pairwise linkage disequilibrium (LD) and haplotype analysis was performed using SHEsis software Results For HM subjects, the mean age was 44.80 ± 17.11 years, and for the control subjects, it was 44.41 ± 14.26 years. There was a linkage disequilibrium (LD) in SNTB1 (rs4395927 and rs4455882). The result showed that C-A haplotype frequency was a little higher in HM subjects than that of the controls (OR = 1.24, 95% CI = 1.01–1.52, P = 0.038). In the meanwhile, the result showed that T-G haplotype frequency was a little lower in HM group (OR = 0.81, 95% CI = 0.66–0.99, P = 0.038). In ZFHX1B gene, the frequency of the minor T allele of rs13382811was significant higher in HM group than in control group (OR = 1.37, 95% CI = 1.41–1.65, P = 0.005) Furthermore, in the CT genotype, there was significant differences in genotype frequency (OR = 1.57, 95% CI = 1.23-2.00, P = 0.001). In dominant model, there was a significant difference (TT + CT vs. CC, OR = 1.55, 95% CI = 1.23–1.95, P = 0.001). Conclusions The SNTB1 and ZFHX1B were both risk genes and increased susceptibility in northern Chinese Han population with high myopia.