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Genetic susceptibility to ulcerative colitis in the Chinese Han ethnic population: association with TNF polymorphisms

CAO Qian ZHU Qin WU Min-liang HU Wei-ling GAO Min SI Jian-min

中华医学杂志(英文版)2006,Vol.119Issue(14):1198-1203,6.
中华医学杂志(英文版)2006,Vol.119Issue(14):1198-1203,6.

Genetic susceptibility to ulcerative colitis in the Chinese Han ethnic population: association with TNF polymorphisms

Genetic susceptibility to ulcerative colitis in the Chinese Han ethnic population: association with TNF polymorphisms

CAO Qian 1ZHU Qin 1WU Min-liang 2HU Wei-ling 1GAO Min 1SI Jian-min1

作者信息

  • 1. Department of Gastroenterology, Sir Run Run Shaw Hospital,School of Medicine, Zhejiang University, Hangzhou 310016, China
  • 2. Department of Laboratory, Second Affiliated Hospital, School of Medicine, Zhejiang University, Hangzhou 310016, China
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摘要

Abstract

Background Tumor necrosis factor α (TNFα) is an important proinflammatory cytokine that has been implicated in the pathogenesis of inflammatory bowel disease (IBD). Recent studies have evaluated the role of TNF promoter polymorphisms in IBD, whereas the data are inconsistent. Trans-racial mapping in an ethnically distinct but homogenous population may help clarify these associations. We investigate the association between TNF promoter polymorphisms and susceptibility to ulcerative colitis (UC) in the Chinese Han ethnic population.Methods We studied 110 unrelated UC patients and 292 healthy controls from Zhejiang Province, China.Genotyping for 6 common TNF promoter polymorphisms (TNF -1031T/C, -863C/A, -857C/T, -380G/A,-308G/A, -238G/A) was carried out by polymerase chain reaction sequence-specific primers (PCR-SSP).Results TNF-308A was associated with disease (allele frequency patients 14.6% vs controls 8.9%, P=0.02).TNF -857T was increased in patients but without statistical significance (allele frequency 17.3% vs 12.2%,P=0.06). Haplotype analysis revealed 6 haplotypes including two (H5 and H3), which contained TNF -308A. H5was associated with disease (haplotype frequency patients -12.3% vs controls 7.5%, P=0.03). Of note the rare haplotype H3 has not previously been identified in Caucasian populations. Homozygosity for the haplotype H4comprising the common alleles at each TNF promoter single-nucleotide polymorphism (SNP) was negatively associated with disease (patients vs controls 24.5% vs 34.9%, P<0.05).Conclusions We report the association with TNF -308A polymorphisms in Chinese patients with ulcerative colitis. The functional study in Chinese Han ethnic population is now required.

关键词

ulcerative colitis/tumor necrosis factor/polymorphism

Key words

ulcerative colitis/tumor necrosis factor/polymorphism

分类

医药卫生

引用本文复制引用

CAO Qian,ZHU Qin,WU Min-liang,HU Wei-ling,GAO Min,SI Jian-min..Genetic susceptibility to ulcerative colitis in the Chinese Han ethnic population: association with TNF polymorphisms[J].中华医学杂志(英文版),2006,119(14):1198-1203,6.

基金项目

This study was supported by a grant from the China-UK Science and Technology Collaboration Fumd (No. Biotechnology 2002-2004 B1). (No. Biotechnology 2002-2004 B1)

中华医学杂志(英文版)

OACSTPCDMEDLINESCI

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