Association of beta-defensin 1 single nucleotide polymorphisms with Crohn's disease.

Abstract:

OBJECTIVE:It has been suggested that deficient defensin expression is associated with the chronic inflammation of Crohn's disease. The regional localization of Crohn's disease, ileal or colonic disease can be linked to different defensin profiles. As constitutive beta-defensin 1 has a colonic expression, we considered it of interest to investigate single nucleotide polymorphisms (SNPs) of the beta-defensin 1 gene (DEFB1) in Crohn's disease. MATERIAL AND METHODS:Three SNPs of the DEFB1 gene, DEFB1 G-20A (rs11362), DEFB1 C-44G (rs1800972) and DEFB1 G-52A (rs1799946), were genotyped either by Custom TaqMan SNP genotyping assays or by restriction fragment length polymorphisms (RFLP) in 190 patients with Crohn's disease and 95 Hungarian controls. RESULTS:It was found that the G-20A and C-44G SNPs had a strong association with the colonic and ileocolonic localizations of the disease, respectively, but no association was detected for the ileal localization. A significantly higher frequency of the GA genotype of G-20A was observed among patients with colonic localization (60%) as compared with healthy controls (39%), with an odds ratio (OR) of 2.39. The GG genotype of C-44G SNP, which is regarded as a protective genotype, was much less frequent (4%) among patients than among controls (12%), OR 3.367. CONCLUSIONS:These results indicate that genetic variations in the DEFB1 gene encoding constitutive human beta-defensin 1 may be associated with the risk for Crohn's disease and may determine disease phenotype, e.g. colonic localization.

journal_name

Scand J Gastroenterol

authors

Kocsis AK,Lakatos PL,Somogyvári F,Fuszek P,Papp J,Fischer S,Szamosi T,Lakatos L,Kovacs A,Hofner P,Mándi Y

doi

10.1080/00365520701682615

subject

Has Abstract

pub_date

2008-03-01 00:00:00

pages

299-307

issue

3

eissn

0036-5521

issn

1502-7708

journal_volume

43

pub_type

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