Association of SNTB1 with High Myopia

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 P_permutation>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 (P_permutation = 0.045).

Conclusions: Our findings are suggestive that SNTB1 is associated with high myopia in a Han Chinese population.

Keywords: Han Chinese; High myopia; SNTB1; Single Nucleotide Polymorphism; haplotype.