Brief Reports
Copyright ©The Author(s) 2004. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Gastroenterol. Oct 15, 2004; 10(20): 3056-3059
Published online Oct 15, 2004. doi: 10.3748/wjg.v10.i20.3056
Cytotoxic T lymphocyte associated antigen-4 gene polymorphisms confer susceptibility to primary biliary cirrhosis and autoimmune hepatitis in Chinese population
Lie-Ying Fan, Xiao-Qing Tu, Qu-Bo Cheng, Ye Zhu, Ralph Feltens, Thomas Pfeiffer, Ren-Qian Zhong
Lie-Ying Fan, Xiao-Qing Tu, Ye Zhu, Ren-Qian Zhong, The center of Clinical Immunology, Changzheng Hospital, Second Military Medical University, Shanghai 200003, China
Qu-Bo Cheng, Department of Laboratory Diagnosis, Traditinal Chinese Medicine Hospital, Guangzhou 501405, Guangdong Province, China
Ralph Feltens, Thomas Pfeiffer, Euroimmun, Medical Laboratory Diagnostic GmbH, Leubeck, Germany
Author contributions: All authors contributed equally to the work.
Correspondence to: Lie-Ying Fan, M.D., The Center of Clinical Immunology, Changzheng Hospital, 415 Feng Yang Road, Shanghai 200003, China.
Telephone: +86-20-636310109 Fax: +86-20-33110236
Received: October 9, 2003
Revised: November 18, 2003
Accepted: December 8, 2003
Published online: October 15, 2004

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-4 gene 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.

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