A case-controlled study on the single nucleotide polymorphism of the CTNND2 gene between high myopia and the normal population in Han Chinese / 中华实验眼科杂志

ABSTRACT

BackgroundHigh myopia is one of leading causes of blindness,so far the pathogenesis remains unclear.Two single-nucleotide polymorphisms (SNPs) of rs6885224 and rs12716080 in CTNND2 gene were recently found to be associated with high myopia in Singaporean Chinese.But whether these SNPs are related with the pathogenesis of high myopia in Han Chinese is worth studying,Objective This study was to investigate the relationship between the genetic variations of the CTNND2 gene and high myopia in Han Chinese.MethodsA case-controlled association study was designed.Nine hundred and thirty-three individuals with high myopia and 1227age- and gender-matched normal subjects were included in this study.The 5 ml of periphery blood was obtained from all subjects for the extraction of genomic DNA.The target DNA was amplified using PCR and purified by the SNaPshot method.Four SNPs rs12716080,rs917012,rs6885224 and rs16901340 in the CTNND2 gene were genotyped.This study was approved by the Ethic Committee of Sichuan Provincial People Hospital.Written informed consent was obtained from each subject before his/her enrollment.Results The frequencies of the genotypes rs6885224,rs12716080,rs917012,rs16901340 SNPs were in Hardy-Weinberg equilibrium (HWE) ( P=0.181,0.085,0.732,0.313,0.264,0.663,0.084,0.196).There were no significant differences in genotypes frequency distribution ( in turn P =0.654,0.406,0.828,0.403 ) and allele frequency distribution of the CTNND2 gene ( in turn P =0.377,0.209,0.743,0.198) between the high myopia group and normal control group.The haplotypes (TA and GA)frequencies of rs12716080 and rs917012 in the high myopia group were significantly different from those of the normal control group(TA0.784 vs.0.719;GA0.087 vs.0.136) (x2 =6.115,P=0.013 ;x2 =6.634,P=0.010),but those of GG were similar between the high myopia group and normal control group ( 0.123 vs.0.143,x2 =0.889,P =0.346). ConclusionsThe SNPs rs12716080,rs917012,rs6885224 and rs16901340 in CTNND2 gene were not responsible for high myopia,however,the haplotypes of rs12716080 and rs917012 are susceptible for high myopia in Han Chinese.