title: Replication study of significant single nucleotide polymorphisms associated with myopia from two genome-wide association studies.
abstract: OBJECTIVE
  Two previous genome-wide association studies (GWAS) of high myopia in a Japanese population found several single nucleotide polymorphisms (SNPs) associated with the disease. The present study examined whether these markers are associated with myopia in a Chinese population.
  
  
  METHODS
  Individuals with or without complex myopia were recruited from Chinese university students, and probands with early onset high myopia were identified in the Pediatric and Genetic Eye Clinic of the Zhongshan Ophthalmic Center. DNA was prepared from venous leukocytes. Three SNPs, rs577948 and rs11218544 at chromosome position 11q24.1 and rs2839471 at chromosome position 21q22.3, were genotyped. The allele and genotype frequencies of these SNPs were compared between the myopia cases and controls using a χ(2) test.
  
  
  RESULTS
  A total of 2,870 subjects were examined in this study, including 1,255 individuals with complex myopia (-10.00 diopter (D)<spherical refraction≤-4.00 D), 563 with early onset high myopia (spherical refraction≤-6.00 D), and 1,052 healthy controls (-0.50 D≤spherical equivalent≤ +2.00 D). There were no statistically significant differences found for the genotype or allele frequencies of the three SNPs between the myopia cases and controls in the Chinese population under study.
  
  
  CONCLUSIONS
  We did not find evidence for the association of myopia with rs577948, rs11218544, or rs2839471 in the Chinese population studied.
authors.affiliation: State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen University, 54 Xianlie Road, Guangzhou, China.
authors.forename: Qin
authors.initials: Q
authors.lastname: Wang
authors.forename: Yang
authors.initials: Y
authors.lastname: Gao
authors.forename: Panfeng
authors.initials: P
authors.lastname: Wang
authors.forename: Shiqiang
authors.initials: S
authors.lastname: Li
authors.forename: Xiaoyun
authors.initials: X
authors.lastname: Jia
authors.forename: Xueshan
authors.initials: X
authors.lastname: Xiao
authors.forename: Xiangming
authors.initials: X
authors.lastname: Guo
authors.forename: Qingjiong
authors.initials: Q
authors.lastname: Zhang
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000483:Alleles; D044466:Asian People; D016022:Case-Control Studies; D002648:Child; D002675:Child, Preschool; D002880:Chromosomes, Human, Pair 11 / Q000235:genetics*; D002891:Chromosomes, Human, Pair 21 / Q000235:genetics*; D004252:DNA Mutational Analysis; D005123:Eye; D005260:Female; D005787:Gene Frequency; D056426:Genetic Loci; D005820:Genetic Testing; D055106:Genome-Wide Association Study; D005838:Genotype; D006801:Humans; D007223:Infant; D015810:Linkage Disequilibrium; D008297:Male; D008875:Middle Aged; D009216:Myopia / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D012720:Severity of Illness Index