Association of SNTB1 with High Myopia

Abstract

ABSTRACT Purpose To investigate the associations of Single Nucleotide Polymorphisms (SNPs) in the SNTB1 gene with high myopia in a Han Chinese population. Materials and Methods Based on previous studies, four SNPs from the SNTB1 gene were chosen for genotyping. This is a case-control genetic association study comprising 193 high myopia participants and 135 normal emmetropic controls from a Han Chinese population. Allelic frequencies of the SNPs and haplotypes were compared to assess the associations of the SNPs with high myopia and axial length (AL). Results The SNPs rs7839488 (effect allele: A; OR = 0.685), rs4395927 (effect allele: T; OR = 0.692), and rs6469937 (effect allele: A; OR = 0.683) displayed significant associations with high myopia initially (P = .044, 0.049, and 0.035, respectively), but did not withstand permutation testing (all Ppermutation>0.05). rs6469937 displayed associations with high myopia in the dominant model (AG+AA: OR = 0.609) against GG (reference). rs6469937 was also associated with AL in the dominant model (AG+AA: Beta = −0.58) against GG (reference). The haplotype analysis demonstrated ATGA as the protective haplotype against high myopia, which remained statistically significant in permutation testing (Ppermutation = 0.045). Conclusions Our findings are suggestive that SNTB1 is associated with high myopia in a Han Chinese population.