title: Genetic association study between INSULIN pathway related genes and high myopia in a Han Chinese population.
abstract: To investigate the association between insulin (INS) pathway related genes, including INS, insulin receptor (INSR), insulin receptor substrate 1 (IRS1), insulin-like growth factor 2 (IGF2), IGF2 receptor (IGF2R) and IGF binding protein 1 (IGFBP1), and high myopia (HM) in a Han Chinese population, we have genotyped 24 single nucleotide polymorphisms (SNPs) of these genes in this cohort by Sequenom MassARRAY method. The genotyping data was analyzed by χ(2) test and the linkage disequilibrium block structure was examined by Haploview software. SNPs in the INS-IGF2 region (rs2070762 and rs1003483), and the INSR gene (rs3745551 and rs2229429) showed significant association with HM (allelic P = 0.0085, 0.0494, 0.0171 and 0.0238, respectively). Under the model of risk genotype combination of INSR and IRS1, carrying the variant allele (A) of the IRS1 Gly972Arg SNP (rs1801278) further increased the risk among the rs2229429T allele carriers (odds ratio 6.865, 95 % confidence interval 1.533-30.745). None of the SNPs in the IGF2R and IGFBP1 genes were found to be significantly associated with HM. Genetic variants in the insulin signaling pathway genes may increase the susceptibility of high myopia in Han Chinese.
authors.affiliation: School of materials Science and Engineering, Southwest Jiaotong University, Chengdu, 610031, Sichuan, China.
authors.forename: Xiaoqi
authors.initials: X
authors.lastname: Liu
authors.forename: Pu
authors.initials: P
authors.lastname: Wang
authors.forename: Chao
authors.initials: C
authors.lastname: Qu
authors.forename: Hong
authors.initials: H
authors.lastname: Zheng
authors.forename: Bo
authors.initials: B
authors.lastname: Gong
authors.forename: Shi
authors.initials: S
authors.lastname: Ma
authors.forename: He
authors.initials: H
authors.lastname: Lin
authors.forename: Jing
authors.initials: J
authors.lastname: Cheng
authors.forename: Zhenglin
authors.initials: Z
authors.lastname: Yang
authors.forename: Fang
authors.initials: F
authors.lastname: Lu
authors.forename: Yi
authors.initials: Y
authors.lastname: Shi
mesh_terms: D000328:Adult; D044466:Asian People / Q000235:genetics*; D016022:Case-Control Studies; D015331:Cohort Studies; D004843:Epistasis, Genetic; D005006:Ethnicity / Q000235:genetics*; D005260:Female; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D006239:Haplotypes / Q000235:genetics; D006801:Humans; D007328:Insulin / Q000235:genetics*; D015810:Linkage Disequilibrium / Q000235:genetics; D008297:Male; D008875:Middle Aged; D009216:Myopia / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D017527:Receptor, IGF Type 2 / Q000235:genetics; D015398:Signal Transduction / Q000235:genetics
chemical_list: D007328:Insulin; D017527:Receptor, IGF Type 2