Association Study Of MYP10 And MYP15 For High Myopia In A Han Chinese Population

High myopia is the most common and complex ocular disorder in the world.Both environmental and genetic factors contribute to the development of myopia.So far the pathogenesis of high myopia remains elusive.This study was performed to study the association between genetic variants in chromosome 8p23(MYP10)and 10q21.1(MYP15)regions and high myopia in a Han C hinese population,in order to set up the foundation for pathogenesis of high myopia in the Han Chinese population.A casecontrol association study of 869 unrelated patients with high myopia and 804 control subjects matched in ethnicity,age and gender was undertaken and simultaneously we collected all the blood samples of participants.This study was provided and approved by the Institutional Review Board of Sichuan Academy of Medical Sciences & Sichuan Provincial People's Hospital in Sichuan Province,China.Eight SNPs in the MYP10(including rs189798,rs9949,rs19334,rs4840437,rs6989782,rs656319,rs6983332 and rs12678938)and four SNPs in the MYP15(including rs1394108,rs4589208,rs11005665 and rs10825992)were selected and genotyped by S napshot method.And Hardy-Weinberg equilibrium(HWE)was applied to test the genotypic distribution of the 12 SNPs.?2 test was used to compare genotype and allele frequencies between high myopia cases and controls.The overall association study was adjusted for age and gender with binary logistic regression.The linkage disequilibrium(LD)block structure was examined by Haploview 4.2 software.All the statistical analyses were cond ucted by SPSS software(version 17.0).In this study,all the genotype frequencies of these SNPs were in Hardy-Weinberg equilibrium(HWE,P<0.001).Among the twelve SNPs genotyped,rs4840437 and rs6989782 in the TNKS gene showed nominally association with high myopia in this study(P=0.004;P=0.004 respectively).Unfortunatelly,there were no statistically significant differences in the allele frequencies of the twelve SNPs between patients and controls after age-gender correction(P>0.05).The carriers of rs6989782 CT and rs6989782TT+CT genotypes displayed a decreased risk of high myopia compared with rs6989782 CC carriers(P=0.023,OR=0.752,95%CI=0.59-0.96;P=0.033,OR=0.78,95%CI=0.61-0.98,respectively).Furthermore,haplotype analysis indicated that one linkage disequilibrium(LD)block including two SNPs of rs4840437 and rs6989782 was located in the TNKS gene and two haplotypes(AC,P=0.002;GT,P= 0.027,respectively)were significantly associated with high myopia in this study.In conclusion,Our findings indicated that rs4840437 and rs6989782 in the TNKS gene had a significant association with high myopia in the Han C hinese population.Further studies are needed to investigate the possible function of TNKS gene in the development of myopia.