Analysis of genes within the HLA region affecting susceptibility to ulcerative colitis

Sugimura, Kazuhito; Asakura, Hitoshi; Mizuki, Nobuhisa; Inoue, Motoki; Hibi, Toshihumi; Yagita, Akikuni; Tsuji, Kimiyoshi; Inoko, Hidetoshi

doi:10.1016/0198-8859(93)90113-f

Cited by 75 publications

(55 citation statements)

References 30 publications

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“…Genetic studies directed to unravel the biological basis of this predisposition are essential to understand the pathogenesis of these diseases. Studies in different populations have found an association between the HLA-DR2 allele in UC and the DR1 allele in CD [3][4][5][6][7]9]. The associations observed are, however, not strong.…”

Section: Discussionmentioning

confidence: 99%

Distribution of four polymorphisms in the tumour necrosis factor (TNF) genes in patients with inflammatory bowel disease (IBD)

Bouma

Xia

Crusius

et al. 1996

Clinical and Experimental Immunology

132

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SUMMARYIn 153 patients with IBD, 64 with Crohn's disease (CD), and 89 with ulcerative colitis (UC), as well as in 54 healthy controls (HC), the frequencies of four known di-allelic polymorphisms in the genes for TNF-a and lymphotoxin alpha (LTa) were investigated. In the Dutch population, the alleles of these four polymorphisms are present in only five combinations, called TNF haplotypes: TNF-C, -E, -H, -I, -P. Furthermore, the relation with the presence of perinuclear anti-neutrophil cytoplasmic autoantibodies (P-ANCA) was studied. A small, but statistically significant, association between the polymorphism at position -308 in the promoter region of the TNF-a gene and UC was found. The frequency of the uncommon TNF-tr -308 allele 2 was found to be decreased in patients with UC compared with HC (allele frequency of allele 2 in UC patients 0.15 versus 0.25 in HC, P = 0.044). No significant differences in distribution of the TNF haplotypes were found between IBD patients and HC, although there was a tendency towards a higher frequency of the TNF-C haplotype in UC patients compared with controls (haplotype frequency 22% versus 13%; P = 0.19). No statistically significant differences in distribution of the TNF haplotypes were observed between P-ANCA-positive and P-ANCA-negative UC patients. The strength of the associations indicates that TNF genes are not markers for the predisposition to suffer from IBD. They may, however, be markers of subsets of patients with UC and CD.

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Section: Discussionmentioning

confidence: 99%

Distribution of four polymorphisms in the tumour necrosis factor (TNF) genes in patients with inflammatory bowel disease (IBD)

Bouma

Xia

Crusius

et al. 1996

Clinical and Experimental Immunology

132

View full text Add to dashboard Cite

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“…Since the familial occurrence of both diseases has been reported, genetic factors may relate to their coexistence, although humanleukocyte antigen (HLA) typing which is commonin these two diseases has not been described ( 18,19). However, the present case possessed HLAAll and negative DPw2, which are considered to be associated with Basedow's disease (18), and HLA-DR2, which is considered to be associated with ulcerative colitis (19). Therefore, genetic etiology mayhave some role in the coexistence in the present case.…”

Section: Discussionmentioning

confidence: 99%

Basedow's Disease and Chronic Ulcerative Colitis. A Case Report and Review of the Japanese Literature.

et al. 2001

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A case of Basedow's disease, that developed after successful treatment of ulcerative colitis with a total colectomy, is presented, along with a review of the Japanese literature on the coexistence of hyperthyroidism and ulcerative colitis. A 26-year-old man was referred to our department, complaining of general fatigue, appetite loss, and palpitation. At age 14, blood was discovered in his stool and a diagnosis of ulcerative colitis was made. Since then, he has been treated with salazosulfapyridine and prednisolone. On examination, mild exophthalmos and thyroid swelling were observed. Both serum free T3 and T4 levels were increased along with a positive TSHreceptor antibody, while TSH was decreased. Scintigraphic and ultrasonographic examinations of the thyroid gland showed diffuse enlargement. Treatment with thiamazole relieved the symptomsand normalized the thyroid function. Although a high incidence of autoimmunethyroid diseases in association with ulcerative colitis has been suggested, only 6 cases of hyperthyroidism coexisting with ulcerative colitis have been reported in Japan. A common immunological process has been suggested to be implicated in the pathogenesis of this association, however, the exact mechanismremains unclear. (Internal Medicine 40: 44-47, 2001)

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“…A blood count revealed thrombocytopenia (platelet count, 70× As with many diseases suspected of having an autoimmune etiology or pathogenesis, the associations between UC and certain HLA classⅡgenes have been investigated. Although HLA-class Ⅱgenes do not explain all cases of UC, an association between HLA-DR2 and UC has been reported by several investigators (11,12). Recent studies applying molecular techniques and typing for specific HLA-DRB1 subtypes have shown that within the HLA-DR2 group, the DRB1*1501 and DRB1*1502 alleles, but not the DRB1*1601 or DRB1*1602 alleles, are positively associated with UC (13,14).…”

Section: Case Reportmentioning

confidence: 95%

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Kishikawa

Nishida²,

Nakano³

et al. 2003

Digestive Diseases and Sciences

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Analysis of genes within the HLA region affecting susceptibility to ulcerative colitis

Cited by 75 publications

References 30 publications

Distribution of four polymorphisms in the tumour necrosis factor (TNF) genes in patients with inflammatory bowel disease (IBD)

Distribution of four polymorphisms in the tumour necrosis factor (TNF) genes in patients with inflammatory bowel disease (IBD)

Basedow's Disease and Chronic Ulcerative Colitis. A Case Report and Review of the Japanese Literature.

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