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Pregled bibliografske jedinice broj: 485018

Association of IL-23R Gene Polymorphism with Inflammatory Bowel Disease in the Croatian Population


Suver Stević, Mirjana; Mihaljević, Silvio; Štefanić, Mario; Mihaljević, Ivan; Samardžija, Marina; Glavaš-Obrovac, Ljubica
Association of IL-23R Gene Polymorphism with Inflammatory Bowel Disease in the Croatian Population // The Secret Life of Biomolecules (HDBMB 2010) / Kovark, Zrinka ; Varljen, Jadranka (ur.).
Rijeka: Croatian Society of Biochemistry and Molecular Biology, 2010. (poster, nije recenziran, sažetak, ostalo)


Naslov
Association of IL-23R Gene Polymorphism with Inflammatory Bowel Disease in the Croatian Population

Autori
Suver Stević, Mirjana ; Mihaljević, Silvio ; Štefanić, Mario ; Mihaljević, Ivan ; Samardžija, Marina ; Glavaš-Obrovac, Ljubica

Vrsta, podvrsta i kategorija rada
Sažeci sa skupova, sažetak, ostalo

Izvornik
The Secret Life of Biomolecules (HDBMB 2010) / Kovark, Zrinka ; Varljen, Jadranka - Rijeka : Croatian Society of Biochemistry and Molecular Biology, 2010

Skup
The Secret Life of Biomolecules HDBMB2010, 10th Congress of The Croatian Society of Biochemistry and Molecular Biology

Mjesto i datum
Opatija, Republika Hrvatska, 15.-18.09.2010

Vrsta sudjelovanja
Poster

Vrsta recenzije
Nije recenziran

Ključne riječi
Inflammatory bowel disease ; SNP

Sažetak
Inflammatory bowel disease (IBD) is a general term that covers a group of inflammatory disorders of the gastrointestinal tract: Crohn´s disease (CD) and ulcerative colitis (UC). The IBD is a complex interplay of genetic, environmental, and immunologic factors. A single-nucleotide polymorphism (SNP) rs11209026, which encodes a missense allele change (G>A) and a nonsynonymous amino acid substitution (Arg381Gln) in a subunit of the human IL-23 receptor has been associated with an altered TH17 inflammatory response. Uncommon glutamine allele had significantly lower frequency in different CD cohorts compared with healthy subjects suggesting that it confers strong protection against CD. The aim of this study was to investigate the association of the SNP rs11209026*A/Gln variant and genotype– phenotype relationship in Croatian IBD population. Genomic DNA was isolated from venous EDTA blood of 100 healthy controls and 132 IBD patients. Genotyping was carried out using LightCycler allele discrimination method. Detection was based on fluorescent resonance energy transfer (FRET) and melting curve analysis of PCR products. In this study we determine two genotypes in both tested groups: dominant homozygote (GG) and heterozygote (GA). Homozygous AA carriers were not detected in either group. Genotype frequencies of the IL23R Arg381Gln SNP were in accordance with the Hardy- Weinberg equilibrium. Frequency of allele A in IBD group was 0.023 while in control group was 0.07. Total minor allele frequency (MAF) was 0.043. A significant decrease of allele A in IBD group relative to group of healthy subjects (OR=0.31 ; 95% CI=0.12-0.82 ; Fisher exact P=0.019) was observed, suggesting a possible protective role against IBD. In contrast, no significant difference in genotype frequencies between IBD cases and controls was found (0.06 vs 0.106, GA genotype, cases vs controls, OR=0.54 ; 95% CI=0.2- 1.54, Fisher exact P=0.246). Our results referee that further studies based on a larger number of samples and/or comprising more SNPs are needed to confirm or reject the reported phenotype–genotype associations.

Izvorni jezik
Engleski

Znanstvena područja
Biologija, Temeljne medicinske znanosti



POVEZANOST RADA


Projekt / tema
134-1340227-0200 - Upala i udio farmakogenetike u razvoju i ishodu akutnih i kroničnih bolesti (Ana-Maria Šimundić, )

Ustanove
Sveučilište J. J. Strossmayera u Osijeku