The 3'UTR NFKBIA variant is associated with extensive colitis in Hungarian IBD patients.
OBJECTIVE
In previous studies the NFKBIA 3'UTR (untranslated region) AA genotype was associated with Crohn's disease (CD), while the NFKB1-94ins/delATTG 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.
Szamosi
Tamas
T
1st Department of Medicine, Semmelweis University, Koranyi st. 2/A, 1083, Budapest, Hungary.
Lakatos
Peter Laszlo
PL
Szilvasi
Aniko
A
Lakatos
Laszlo
L
Kovacs
Agota
A
Molnar
Tamas
T
Altorjay
Istvan
I
Papp
Maria
M
Szabo
Orsolya
O
Satori
Anna
A
Tulassay
Zsolt
Z
Miheller
Pal
P
Horvath
Henrik Csaba
HC
Papp
Janos
J
Tordai
Attila
A
Andrikovics
Hajnalka
H
D020413:3' Untranslated Regions; D000328:Adult; D016022:Case-Control Studies; D004268:DNA-Binding Proteins / Q000235:genetics*; D005260:Female; D005838:Genotype; D006801:Humans; D006814:Hungary; D020672:I-kappa B Proteins; D054643:INDEL Mutation; D015212:Inflammatory Bowel Diseases / Q000235:genetics* / Q000628:therapy; D008297:Male; D008875:Middle Aged; D000072000:NF-KappaB Inhibitor alpha; D052002:NF-kappa B p50 Subunit / Q000235:genetics*; D010641:Phenotype; D011110:Polymorphism, Genetic; D011401:Promoter Regions, Genetic; D055815:Young Adult
D020413:3' Untranslated Regions; D004268:DNA-Binding Proteins; D020672:I-kappa B Proteins; D052002:NF-kappa B p50 Subunit; C489548:NFKB1 protein, human; C000606204:NFKBIA protein, human; D000072000:NF-KappaB Inhibitor alpha