Cytotoxic T lymphocyte associated antigen-4 gene polymorphisms confer susceptibility to primary bili

• 作 者: Lie-Ying Fan Xiao-Qing Tu Qu-Bo Cheng YE Zhu Ralph Feltens Thomas Pfeiffer Ren-Qian Zhong
• 机 构: The center of Clinical Immunology, Changzheng Hospital, Second Military Medical University, Shanghai
• 出 处: 世界胃肠病学杂志（英文版）
• 发表日期: 2004年20期
• 关键词: Chinese population autoimmune hepatitis primary biliary cirrhosis gene polymorph

AIM: To investigate the association between Chinese patients with autoimmune hepatitis (AIH), primary biliary cirrhosis (PBC) and the polymorphisms of cytotoxic T lymphocyte-associated antigen-4 (CTLA-4) gene promoter (-318) and exon 1 (+49).METHODS: CTLA-4 promoter (-318 T/C) and exon1 (+49A/G)polymorphisms were genotyped via restriction fragment length polymorphism methods in 62 Chinese AIH patients,77 Chinese PBC patients and 160 healthy controls.RESULTS: We found a significant association in CTLA-4gene exon1 49 A/G polymorphism between PBC patients and controls (P = 0.006) and the frequency of G alleles was significantly increased in comparison with controls (P = 0.0046, OR = 1.8). We also found the frequency of C alleles in promoter -318 was significantly increased in AIH patients compared with controls (P = 0.02, OR = 0.41).Although the genotype distribution of the CTLA-4 exon 1-promoter gene was not significantly different between AIH and PBC patients and controls, the occurence of GG-CC was increased in two groups of patients (AIH: 32.3%, PBC:37.7%, control: 22.5%).CONCLUSION: Polymorphisms of CTLA-4 gene probably confer susceptibility to AIH and PBC in Chinese population.