title: Evaluation of genome-wide susceptibility loci for high myopia in a Han Chinese population.
abstract: High myopia (HM) is a common cause of visual impairment worldwide. Previous genome-wide association studies have reported that seven single nucleotide polymorphisms (SNPs), including rs1254319, rs3138144, rs12205363, rs17648524, rs7829127, rs1656404, and rs7084402, are associated with HM in Caucasians. The aim of this study was to investigate the association of these SNPs in Han Chinese.
  
  
  
  SNPs were genotyped by SNaPshot method in a Chinese cohort composed of 830 HM patients and 1140 controls.
  
  
  
  Rs17648524 (C/G) and rs7084402 (A/G) were significantly associated with HM (p = 3.0 × 10-3, OR = 0.43; p = 3.7 × 10-2, OR = 1.25, respectively). The association of rs17648524 was also observed under the heterozygous model (CG vs. GG, p = 7.0 × 10-3, OR = 0.43) and the dominant model (CC + CG vs. GG, p = 4.0 × 10-3, OR = 0.42). The association of rs7084402 was found under the homozygous model (GG vs. AA, p = 4.0 × 10-2, OR = 1.56) and the dominant model (GG+ AG vs. AA, p = 3.8 × 10-2, OR = 1.41). Another SNP, rs7829127 (A/G), was found to be significantly associated with HM under the heterozygous model (AG vs. AA, p = 4.6 × 10-2, OR = 0.67). Furthermore, the associations of rs17648524 and rs7084402 with HM were gender-specific, with significance observed only in females but not in males. As for the other four SNPs, no associations were detected under these genetic models.
  
  
  
  Our findings suggested rs17648524 (intronic RBFOX1 gene) and rs7084402 (7.5kb 5' of the BICC1 gene) showed gender-specific associations with high myopia in the Han Chinese.
authors.affiliation: a School of Medicine, University of Electronic Science and Technology of China , Chengdu , Sichuan , China.|b Sichuan Provincial Key Laboratory for Human Disease Gene Study, Sichuan Academy of Medical Sciences & Sichuan Provincial People's Hospital , University of Electronic Science and Technology of China , Chengdu , Sichuan , China.|c Department of Ophthalmology , Sichuan Provincial People's Hospital , Chengdu , Sichuan , China.
authors.forename: Fang
authors.initials: F
authors.lastname: Li
authors.affiliation: b Sichuan Provincial Key Laboratory for Human Disease Gene Study, Sichuan Academy of Medical Sciences & Sichuan Provincial People's Hospital , University of Electronic Science and Technology of China , Chengdu , Sichuan , China.|d College of Life Science and Engineering, Southwest Jiaotong University , Chengdu , Sichuan , China.
authors.forename: Zimeng
authors.initials: Z
authors.lastname: Ye
authors.affiliation: a School of Medicine, University of Electronic Science and Technology of China , Chengdu , Sichuan , China.|b Sichuan Provincial Key Laboratory for Human Disease Gene Study, Sichuan Academy of Medical Sciences & Sichuan Provincial People's Hospital , University of Electronic Science and Technology of China , Chengdu , Sichuan , China.
authors.forename: Yaru
authors.initials: Y
authors.lastname: Zhai
authors.affiliation: b Sichuan Provincial Key Laboratory for Human Disease Gene Study, Sichuan Academy of Medical Sciences & Sichuan Provincial People's Hospital , University of Electronic Science and Technology of China , Chengdu , Sichuan , China.|e Department of Laboratory Medicine , Sichuan Provincial People's Hospital , Sichuan , China.
authors.forename: Bo
authors.initials: B
authors.lastname: Gong
authors.affiliation: a School of Medicine, University of Electronic Science and Technology of China , Chengdu , Sichuan , China.|b Sichuan Provincial Key Laboratory for Human Disease Gene Study, Sichuan Academy of Medical Sciences & Sichuan Provincial People's Hospital , University of Electronic Science and Technology of China , Chengdu , Sichuan , China.
authors.forename: Lingxi
authors.initials: L
authors.lastname: Jiang
authors.affiliation: a School of Medicine, University of Electronic Science and Technology of China , Chengdu , Sichuan , China.|b Sichuan Provincial Key Laboratory for Human Disease Gene Study, Sichuan Academy of Medical Sciences & Sichuan Provincial People's Hospital , University of Electronic Science and Technology of China , Chengdu , Sichuan , China.
authors.forename: Haiyan
authors.initials: H
authors.lastname: Wu
authors.affiliation: b Sichuan Provincial Key Laboratory for Human Disease Gene Study, Sichuan Academy of Medical Sciences & Sichuan Provincial People's Hospital , University of Electronic Science and Technology of China , Chengdu , Sichuan , China.|e Department of Laboratory Medicine , Sichuan Provincial People's Hospital , Sichuan , China.
authors.forename: Ying
authors.initials: Y
authors.lastname: Lin
authors.affiliation: c Department of Ophthalmology , Sichuan Provincial People's Hospital , Chengdu , Sichuan , China.
authors.forename: Ling
authors.initials: L
authors.lastname: Wan
authors.affiliation: a School of Medicine, University of Electronic Science and Technology of China , Chengdu , Sichuan , China.|b Sichuan Provincial Key Laboratory for Human Disease Gene Study, Sichuan Academy of Medical Sciences & Sichuan Provincial People's Hospital , University of Electronic Science and Technology of China , Chengdu , Sichuan , China.|e Department of Laboratory Medicine , Sichuan Provincial People's Hospital , Sichuan , China.
authors.forename: Zhenglin
authors.initials: Z
authors.lastname: Yang
authors.affiliation: a School of Medicine, University of Electronic Science and Technology of China , Chengdu , Sichuan , China.|b Sichuan Provincial Key Laboratory for Human Disease Gene Study, Sichuan Academy of Medical Sciences & Sichuan Provincial People's Hospital , University of Electronic Science and Technology of China , Chengdu , Sichuan , China.|e Department of Laboratory Medicine , Sichuan Provincial People's Hospital , Sichuan , China.
authors.forename: Yi
authors.initials: Y
authors.lastname: Shi
authors.affiliation: a School of Medicine, University of Electronic Science and Technology of China , Chengdu , Sichuan , China.|c Department of Ophthalmology , Sichuan Provincial People's Hospital , Chengdu , Sichuan , China.
authors.forename: Zhengzheng
authors.initials: Z
authors.lastname: Wu
mesh_terms: D000328:Adult; D000368:Aged; D000483:Alleles; D044466:Asian People / Q000235:genetics; D002681:China / Q000453:epidemiology; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D055106:Genome-Wide Association Study; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D047728:Myopia, Degenerative / Q000175:diagnosis / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D000072260:RNA Splicing Factors / Q000235:genetics*; D016601:RNA-Binding Proteins / Q000235:genetics*; D012737:Sex Factors
chemical_list: C571508:Bicc1 protein, human; C455479:RBFOX1 protein, human; D000072260:RNA Splicing Factors; D016601:RNA-Binding Proteins
keywords: BICC1 gene; RBFOX1 gene; case-control study; high myopia; single nucleotide polymorphism