title: Association between cytotoxic T-lymphocyte antigen 4 gene polymorphisms and primary biliary cirrhosis in Chinese population: data from a multicenter study.
abstract: OBJECTIVE
  The cytotoxic T-lymphocyte antigen 4 (CTLA4) gene polymorphisms have been shown to be associated with the risk of primary biliary cirrhosis (PBC). The study aimed to confirm the associations of CTLA4 gene polymorphisms with risk of PBC and patients' quality of life in Chinese population.
  
  
  METHODS
  A total of 312 female PBC patients from Chinese Han population were included as case, and 375 age-matched female healthy volunteers were included as control. Four single nucleotide polymorphisms (SNPs) including rs231775, rs3087243, rs231725, and rs5742909 were genotyped. The differences of genotype and allele distributions between PBC patients and healthy controls were assessed. The relationship between CTLA4 gene polymorphisms and healthy status of PBC patients were then investigated through comparisons of the domain scores of PBC-40 questionnaire between different genotype categories of each single nucleotide polymorphism.
  
  
  RESULTS
  The frequencies of G allele at rs231775 and A allele at rs231725 were both significantly increased in PBC patients when compared with normal controls (P < 0.001, odds ratio = 1.44, 95% confidence interval = 1.24-1.67 for rs231775; P < 0.001, odds ratio = 1.29, 95% confidence interval = 1.12-1.48 for rs231725). Besides, patients carrying A allele of rs3087243 had significantly lower score of fatigue domain than those carrying G allele (2.5 ± 0.8 vs 3.9 ± 1.3, P < 0.001).
  
  
  CONCLUSIONS
  This study revealed that CTLA4 gene polymorphism might be associated with susceptibility of PBC. G allele of rs231775 and A allele of rs231725 were significantly associated with the risk of PBC. In addition, patients carrying A allele of rs3087243 could have significantly better quality of life than those carrying G allele.
authors: Department of Gastroenterology, Huai'an First People's Hospital of Nanjing Medical University, Huai'an, China.
authors: Qianjun
authors: Q
authors: Li
authors: Bingjian
authors: B
authors: Wang
authors: Feng
authors: F
authors: Pan
authors: Rui
authors: R
authors: Zhang
authors: Lingyan
authors: L
authors: Xiao
authors: Huimin
authors: H
authors: Guo
authors: Shijie
authors: S
authors: Ma
authors: Chuanwen
authors: C
authors: Zhou
mesh_terms: D044466:Asian People / Q000235:genetics*; D060908:CTLA-4 Antigen / Q000235:genetics*; D005260:Female; D005787:Gene Frequency / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005838:Genotype; D006801:Humans; D008105:Liver Cirrhosis, Biliary / Q000235:genetics*; D015337:Multicenter Studies as Topic; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D011788:Quality of Life; D012306:Risk; D011795:Surveys and Questionnaires
chemical_list: D060908:CTLA-4 Antigen; C556706:CTLA4 protein, human
keywords: CTLA4; PBC-40; SNPs; primary biliary cirrhosis; quality of life