AIM: To investigate the association between Chinese patients with autoirnrnune hepatitis (AIH), primary biliary cirrhosis (PBC) and the polyrnorphisrns of cytotoxic T lymphocyte-associated antigen-4 (CTLA-4) gene prom...AIM: To investigate the association between Chinese patients with autoirnrnune hepatitis (AIH), primary biliary cirrhosis (PBC) and the polyrnorphisrns of cytotoxic T lymphocyte-associated antigen-4 (CTLA-4) gene promoter (-318) and exon 1 (+49). METHODS: CTLA-4 promoter (-318 T/C) and exonl (+49A/G) polymorphisms were genotyped via restriction fragment length polymorphisrn methods in 62 Chinese AIH patients,77 Chinese PBC patients and 160 healthy controls. RESULTS: We found a significant association in CTLA-4 gene exonl 49 A/G polyrnorphisrn 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: Polyrnorphisrns of CTLA-4 gene probably confer susceptibility to AIH and PBC in Chinese population.展开更多
文摘AIM: To investigate the association between Chinese patients with autoirnrnune hepatitis (AIH), primary biliary cirrhosis (PBC) and the polyrnorphisrns of cytotoxic T lymphocyte-associated antigen-4 (CTLA-4) gene promoter (-318) and exon 1 (+49). METHODS: CTLA-4 promoter (-318 T/C) and exonl (+49A/G) polymorphisms were genotyped via restriction fragment length polymorphisrn methods in 62 Chinese AIH patients,77 Chinese PBC patients and 160 healthy controls. RESULTS: We found a significant association in CTLA-4 gene exonl 49 A/G polyrnorphisrn 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: Polyrnorphisrns of CTLA-4 gene probably confer susceptibility to AIH and PBC in Chinese population.
