title: Association of insulin-like growth factor-1 polymorphisms with high myopia in the Chinese population.
abstract: OBJECTIVE
  The purpose of this study was to determine whether genetic variants in the insulin-like growth factor-1 (IGF-1) gene were associated with high myopia in the Chinese population.
  
  
  METHODS
  A case-control association study of 421 unrelated Chinese patients with high myopia and 401 control subjects matched in ethnicity and gender was undertaken. Genomic DNA was prepared from peripheral blood. All individuals were genotyped for 7 tag single nucleotide polymorphisms (tSNPs) across the IGF-1 gene region. Genotypic distribution was tested for Hardy-Weinberg equilibrium. The genotype and allele frequencies were evaluated using the χ(2) tests. Bonferroni corrections for multiple comparisons were performed.
  
  
  RESULTS
  The polymorphism of rs12423791 showed positive association with extreme myopia (p(allel)=0.006 and p(allel1 recessive model)=0.004, respectively) after Bonferroni correction for multiple testing and the haplotype GC of rs5742629-rs12423791 was also associated with extreme myopia (p=0.033) after 50,000 permutations for multiple comparisons.
  
  
  CONCLUSIONS
  The polymorphism of rs12423791 in IGF-1 may be associated with extreme myopia in the Chinese population and should be investigated further.
authors.affiliation: The First Affiliated Hospital of Chongqing Medical University, Chongqing Key Laboratory of Ophthalmology, Chongqing, China.
authors.forename: Wenjuan
authors.initials: W
authors.lastname: Zhuang
authors.forename: Peizeng
authors.initials: P
authors.lastname: Yang
authors.forename: Zili
authors.initials: Z
authors.lastname: Li
authors.forename: Xunlun
authors.initials: X
authors.lastname: Sheng
authors.forename: Jingjing
authors.initials: J
authors.lastname: Zhao
authors.forename: Shanshan
authors.initials: S
authors.lastname: Li
authors.forename: Xueqiu
authors.initials: X
authors.lastname: Yang
authors.forename: Wei
authors.initials: W
authors.lastname: Xiang
authors.forename: Weining
authors.initials: W
authors.lastname: Rong
authors.forename: Yani
authors.initials: Y
authors.lastname: Liu
authors.forename: Fangxia
authors.initials: F
authors.lastname: Zhang
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D000483:Alleles; D044466:Asian People; D016022:Case-Control Studies; D002648:Child; D002675:Child, Preschool; D002681:China / Q000453:epidemiology; D005260:Female; D005787:Gene Frequency; D006239:Haplotypes; D006801:Humans; D007334:Insulin-Like Growth Factor I / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D047728:Myopia, Degenerative / Q000453:epidemiology / Q000235:genetics*; D010641:Phenotype; D020641:Polymorphism, Single Nucleotide; D017422:Sequence Analysis, DNA
chemical_list: D007334:Insulin-Like Growth Factor I