The 3′UTR NFKBIA Variant Is Associated with Extensive Colitis in Hungarian IBD Patients

被引：16

作者：

Szamosi, Tamas ^{[1
,3
]}

Lakatos, Peter Laszlo ^{[1
]}

Szilvasi, Aniko ^{[5
]}

Lakatos, Laszlo ^{[7
]}

Kovacs, Agota ^{[2
]}

Molnar, Tamas ^{[4
]}

Altorjay, Istvan ^{[6
]}

Papp, Maria ^{[6
]}

Szabo, Orsolya ^{[5
]}

Satori, Anna ^{[5
]}

Tulassay, Zsolt ^{[8
]}

Miheller, Pal ^{[8
]}

Horvath, Henrik Csaba ^{[1
]}

Papp, Janos ^{[1
]}

Tordai, Attila ^{[5
]}

Andrikovics, Hajnalka ^{[5
]}

机构：

[1] Semmelweis Univ, Dept Med 1, H-1083 Budapest, Hungary

[2] Erzsebet Hosp, Dept Med 1, Budapest, Hungary

[3] State Hlth Ctr, Dept Gastroenterol, Budapest, Hungary

[4] Univ Szeged, Dept Med 1, Szeged, Hungary

[5] Natl Ctr Blood Transfus Serv, Lab Mol Diagnost, Budapest, Hungary

[6] Univ Debrecen, Dept Med 2, H-4012 Debrecen, Hungary

[7] Csolnoky F Cty Hosp, Dept Med 1, Veszprem, Hungary

[8] Semmelweis Univ, Dept Med 2, H-1083 Budapest, Hungary

来源：

DIGESTIVE DISEASES AND SCIENCES | 2009年 / 54卷 / 02期

关键词：

Crohn's disease; Genetics; NFKB1; NFKBIA; Pharmacogenetics; Phenotype; Ulcerative colitis; INFLAMMATORY-BOWEL-DISEASE; QUANTITATIVE TRAIT LOCUS; GENOME-WIDE ASSOCIATION; FACTOR-KAPPA-B; CROHNS-DISEASE; PROMOTER POLYMORPHISM; ULCERATIVE-COLITIS; INFLIXIMAB THERAPY; COLORECTAL-CANCER; WESTERN HUNGARY;

D O I：

10.1007/s10620-008-0351-6

中图分类号：

R57 [消化系及腹部疾病];

学科分类号：

摘要：

Purpose In previous studies the NFKBIA 3'alleles did not predict response to medical therapy or need for surgery.UTR (untranslated region) AA genotype was associated with Crohn's disease (CD), while the NFKB1-94ins/del-ATTG mutation increased the risk for ulcerative colitis (UC). The aim of our study was to investigate these two polymorphisms and patients' response to medical therapy and/or disease phenotype in Hungarian inflammatory bowel disease (IBD) patients. Methods NFKBIA 3'UTR- and NFKB1-94ins/delATTG polymorphisms were investigated in 415 unrelated IBD patients (CD: 266 patients, mean age 35.2 +/- 12.1 years, duration 8.7 +/- 7.5 years; UC patients: 149, mean age 44.4 +/- 15.4 years, duration 10.7 +/- 8.9 years) and 149 controls by PCR-restriction fragment length polymorphism (RFLP) analysis. Detailed clinical phenotypes were determined by reviewing the medical charts. Results The NFKBIA 3'UTR and NFKB1-94ins/ delATTG genotypes and allele frequencies were not significantly different among IBD and controls. In patients with UC, the 3'UTR GG genotype was associated with extensive colitis (55.3 vs. 29.4%, odds ratio 2.97, 95% confidence interval 1.45-6.08). The presence of variant alleles did not predict response to steroids, infliximab, or need for surgery. Conclusions The NFKBIA 3'UTR GG genotype was associated with an increased risk for extensive colitis in Hungarian patients. In contrast, variant alleles did not predict response to medical therapy or need for surgery.

引用

页码：351 / 359

页数：9

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