title: Association of Interleukin-1 Gene Single Nucleotide Polymorphisms with Keratoconus in Chinese Han Population.
abstract: To investigate whether interleukin-1 alpha (IL1A) and interleukin-1 beta (IL1B) polymorphisms are associated with keratoconus (KC) in unrelated Chinese Han patients.
  
  
  
  The IL1A (rs2071376) and IL1B (rs1143627, rs16944) polymorphisms were genotyped in 115 unrelated Chinese Han KC patients and 101 healthy Chinese Han volunteers with the Sequenom MassARRAY RS1000. Sequenom Typer 4.0 software, PLINK 1.07, Haploview 4.0 software platform were used to analyze the allelic variants of IL1A and IL1B genes, and their association with KC risk factors were assessed.
  
  
  
  Among the variants, the three SNPs (rs2071376 in IL1A, rs1143627 and rs16944 in the promoter region of IL1B) were different between the two groups. The A allele of rs2071376 (A > C, p = 0.017, OR = 1.968, 95% C.I. 1.313-3.425), the C allele of rs1143627 (C > T, p < 0.001, OR = 2.864, 95% C.I. 1.631-4.968) and the A allele of rs16944 (A > G, p = 0.002, OR = 2.401, 95% C.I. 1.396-4.161) were associated with a increased risk of KC in Chinese Han patients. This study showed that rs2071376, rs1143627 and rs16944 had significant differences in associations between KC patients and the control group when different genotypes were analyzed in three models (dominant, recessive, and additive). In the haplotype analysis, the two single nucleotide polymorphisms (SNPs), rs1143627 and rs16944 showed strong linkage disequilibrium. In addition, Haplotype "ACA" was found to be associated with a higher risk of developing KC (OR = 12.91, p < 0.001).
  
  
  
  Keratocyte apoptosis is an initiating event in the pathogenesis of KC which could be induced by the altered levels of IL1 gene. These findings confirmed that polymorphisms in IL1 genes were associated with risk of KC in the Chinese Han population, which help us to gain insight into the pathogenesis of KC.
authors.affiliation: a The No.1 Hospital of Xi'an , Xi'an , Shaanxi Province , China and.|b Shaanxi Institute of Ophthalmology, Shaanxi Key Laboratory of Ophthalmology , Xi'an , Shaanxi Province , China.
authors.forename: Yani
authors.initials: Y
authors.lastname: Wang
authors.affiliation: a The No.1 Hospital of Xi'an , Xi'an , Shaanxi Province , China and.
authors.forename: Wei
authors.initials: W
authors.lastname: Wei
authors.affiliation: a The No.1 Hospital of Xi'an , Xi'an , Shaanxi Province , China and.
authors.forename: Changning
authors.initials: C
authors.lastname: Zhang
authors.affiliation: a The No.1 Hospital of Xi'an , Xi'an , Shaanxi Province , China and.
authors.forename: XueHui
authors.initials: X
authors.lastname: Zhang
authors.affiliation: a The No.1 Hospital of Xi'an , Xi'an , Shaanxi Province , China and.
authors.forename: Ming
authors.initials: M
authors.lastname: Liu
authors.affiliation: a The No.1 Hospital of Xi'an , Xi'an , Shaanxi Province , China and.|b Shaanxi Institute of Ophthalmology, Shaanxi Key Laboratory of Ophthalmology , Xi'an , Shaanxi Province , China.
authors.forename: Xiuping
authors.initials: X
authors.lastname: Zhu
authors.affiliation: a The No.1 Hospital of Xi'an , Xi'an , Shaanxi Province , China and.|b Shaanxi Institute of Ophthalmology, Shaanxi Key Laboratory of Ophthalmology , Xi'an , Shaanxi Province , China.
authors.forename: Kun
authors.initials: K
authors.lastname: Xu
mesh_terms: D000293:Adolescent; D000328:Adult; D000483:Alleles; D016022:Case-Control Studies; D002681:China / Q000453:epidemiology; D004247:DNA / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D015994:Incidence; D007375:Interleukin-1 / Q000235:genetics* / Q000378:metabolism; D053582:Interleukin-1alpha / Q000235:genetics; D053583:Interleukin-1beta / Q000235:genetics; D007640:Keratoconus / Q000453:epidemiology / Q000235:genetics* / Q000378:metabolism; D015810:Linkage Disequilibrium; D008297:Male; D016133:Polymerase Chain Reaction; D020641:Polymorphism, Single Nucleotide; D012307:Risk Factors; D055815:Young Adult
chemical_list: D007375:Interleukin-1; D053582:Interleukin-1alpha; D053583:Interleukin-1beta; D004247:DNA
keywords: Cornea; genotype; interleukin-1 gene; keratoconus; single nucleotide polymorphism