Genetic susceptibility to ulcerative colitis in the Chinese Han ethnic population: association with TNF polymorphisms / 中华医学杂志(英文版)

<p><b>BACKGROUND</b>Tumor necrosis factor alpha (TNFalpha) 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.</p><p><b>METHODS</b>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).</p><p><b>RESULTS</b>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. H5 was 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 H4 comprising 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).</p><p><b>CONCLUSIONS</b>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.</p>

Clinical presentation of inflammatory bowel disease: a hospital based retrospective study of 379 patients in eastern China / 中华医学杂志(英文版)

<p><b>BACKGROUND</b>Numerous studies from Europe and North America have provided a wealth of information regarding the epidemiological and clinical characteristics of inflammatory bowel disease (IBD) in Caucasians. Previous studies in mainland China have been limited by small patient numbers or by lack of detailed information about clinical subgroups of the disease. This study was carried out to assess the demographic and clinical characteristics of IBD in Chinese patients.</p><p><b>METHODS</b>In the Sir Run Run Shaw Hospital between 1994 and 2003, 379 patients were diagnosed as IBD. Demographic and clinical data were collected and analysed.</p><p><b>RESULTS</b>Of 379 patients, 317 had ulcerative colitis (UC) (83.6%, 168 male, 149 female, male-female ratio 1.13:1, age range at diagnosis 14-79 years, mean age 44 years) and 62 had Crohn's disease (CD) (16.4%, 39 male and 23 female, male-female ratio 1.70:1, age range at diagnosis 13-70 years, mean age 33 years). In UC, 11.4% of patients had proctitis, 25.2% had proctosigmoiditis, 18.6% were diseased to the splenic flexure and 44.8% had extensive colitis. Nine patients with UC (2.8%) had arthritis, three patients (0.9%) had iritis or conjunctivitis. Of the 62 CD patients, 16 (25.8%) had diseases restricted to the terminal ileum; 15 (24.2%) had colonic diseases; 20 (32.3%) had ileocolonic disease and 11 (17.7%) had disease involving the upper gastrointestinal tract.</p><p><b>CONCLUSIONS</b>This study shows similar characteristics of IBD to that in the West but there are some differences with respect to severity and extraintestinal manifestations. The ethnic and geographic differences may give important clues to the aetiology of IBD.</p>