title: Common single nucleotide polymorphisms and keratoconus in the Han Chinese population.
abstract: OBJECTIVE
  To investigate whether the tag single nucleotide polymorphisms (tSNPs) in VSX1, COL4A3, COL4A4, IL1A and IL1B genes were associated with keratoconus (KTCN) in the Han Chinese population.
  
  
  METHODS
  Ninety-seven KTCN patients and 101 healthy controls were enrolled in this study. All cases were diagnosed on the basis of clinical examination. Twenty-one tSNPs were selected for association study in five genes. SNP genotyping was performed by Sequenom MassARRAY RS1000. Sequenom Typer 4.0 Software, PLINK, Haploview and SHEsis software platform were used to perform data management and analyses.
  
  
  RESULTS
  Three tSNPs in the VSX1 gene were observed to be associated with KTCN risk at a 5% level by χ(2) test (rs56157240 and rs12480307, p = 0.0499, OR: 6.42, 95% CI: 0.77-53.78; rs6050307, p = 1.22 × 10(-7), OR: 0.05, 95% CI: 0.01-0.23). Rs2071376 in the IL1A gene was also associated with KTCN (p = 0.0487, OR: 1.51, 95% CI: 1.00-2.26). Three haplotypes in the VSX1 gene were found to be associated with risk of KTCN (p < 0.05).
  
  
  CONCLUSIONS
  Our findings confirmed previous reports that polymorphisms of VSX1 and IL1A genes were associated with risk of KTCN in the Chinese population, suggesting an important determinant of KTCN development by VSX1 and IL1A genes.
authors.affiliation: The No.1 Hospital of Xi'an, Xi'an, Shaanxi Province, China.
authors.forename: Yani
authors.initials: Y
authors.lastname: Wang
authors.forename: Tianbo
authors.initials: T
authors.lastname: Jin
authors.forename: Xuehui
authors.initials: X
authors.lastname: Zhang
authors.forename: Wei
authors.initials: W
authors.lastname: Wei
authors.forename: Yan
authors.initials: Y
authors.lastname: Cui
authors.forename: Tingting
authors.initials: T
authors.lastname: Geng
authors.forename: Qianping
authors.initials: Q
authors.lastname: Liu
authors.forename: Jing
authors.initials: J
authors.lastname: Gao
authors.forename: Ming
authors.initials: M
authors.lastname: Liu
authors.forename: Chao
authors.initials: C
authors.lastname: Chen
authors.forename: Changning
authors.initials: C
authors.lastname: Zhang
authors.forename: Xiuping
authors.initials: X
authors.lastname: Zhu
mesh_terms: D044466:Asian People / Q000235:genetics*; D001324:Autoantigens / Q000235:genetics; D016022:Case-Control Studies; D002681:China / Q000453:epidemiology; D024141:Collagen Type IV / Q000235:genetics; D017931:DNA Primers / Q000737:chemistry; D005136:Eye Proteins / Q000235:genetics*; D005260:Female; D060005:Genotyping Techniques; D006239:Haplotypes; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D053582:Interleukin-1alpha / Q000235:genetics*; D053583:Interleukin-1beta / Q000235:genetics; D007640:Keratoconus / Q000175:diagnosis / Q000235:genetics*; D008297:Male; D020641:Polymorphism, Single Nucleotide; D012307:Risk Factors; D055815:Young Adult
chemical_list: D001324:Autoantigens; C466620:COL4A4 protein, human; D024141:Collagen Type IV; D017931:DNA Primers; D005136:Eye Proteins; D018398:Homeodomain Proteins; C508584:IL1A protein, human; C508585:IL1B protein, human; D053582:Interleukin-1alpha; D053583:Interleukin-1beta; C491583:VSX1 protein, human; C057112:type IV collagen alpha3 chain