Association of a common vitamin D-binding protein polymorphism with inflammatory bowel disease.
Details
Serval ID
serval:BIB_6ED2E21873F7
Type
Article: article from journal or magazin.
Collection
Publications
Institution
Title
Association of a common vitamin D-binding protein polymorphism with inflammatory bowel disease.
Journal
Pharmacogenetics and Genomics
Working group(s)
Swiss IBD Cohort Study Group
Contributor(s)
Ballabeni P., Bauerfeind P., Beglinger C., Begré S., Bengoa J., Binek J., Boller D., Borovicka J., Braegger C., Brun P., Bühr P., Burnand B., Camara R., Criblez D., de Saussure P., Degen L., Delarive J., Ehmann T., Engelmann M., El Wafa A., Felley C., Frei A., Frei R., Fried M., Froehlich F., Gallot-Lavallée S., Gerlach T., Geyer M., Girardin M., Goetze O., Haack H., Hediger S., Hengstler P., Heyland K., Janiak P., Juillerat P., Kessler Brondolo V., Knoblauch C., Kullak-Ublick GA., Manz M., Meier R., Meyenberger C., Michetti P., Mottet C., Müller C., Müllhaupt B., Nicolet T., Nydegger A., Pache I., Piccoli F., Pilz J., Pittet V., Rentsch R., Rey JP., Rihs S., Rogler D., Rogler G., Sagmeister M., Sauter B., Schaub N., Schibli S., Schoepfer A., Seibold F., Spalinger J., Stadler P., Steuerwald M., Straumann A., Sulz M., Schäppi M., Thorens£££Joël£££ J. , Vader JP., Vavricka S., Vögtlin J., Von Känel R., Wachter G., Wermuth J., Wiesel P.
ISSN
1744-6880 (Electronic)
ISSN-L
1744-6872
Publication state
Published
Issued date
2011
Volume
21
Number
9
Pages
559-564
Language
english
Notes
Publication types: Journal Article ; Research Support, Non-U.S. Gov't
Publication Status: ppublish
Publication Status: ppublish
Abstract
OBJECTIVE: Inflammatory bowel diseases (IBDs), Crohn's disease, and ulcerative colitis (UC), are multifactorial disorders, characterized by chronic inflammation of the intestine. A number of genetic components have been proposed to contribute to IBD pathogenesis. In this case-control study, we investigated the association between two common vitamin D-binding protein (DBP) genetic variants and IBD susceptibility. These two single nucleotide polymorphisms (SNPs) in exon 11 of the DBP gene, at codons 416 (GAT>GAG; Asp>Glu) and 420 (ACG>AAG; Thr>Lys), have been previously suggested to play roles in the etiology of other autoimmune diseases.
METHODS: Using TaqMan SNP technology, we have genotyped 884 individuals (636 IBD cases and 248 non-IBD controls) for the two DBP variants.
RESULTS: On statistical analysis, we observed that the DBP 420 variant Lys is less frequent in IBD cases than in non-IBD controls (allele frequencies, P=0.034; homozygous carrier genotype frequencies, P=0.006). This inverse association between the DBP 420 Lys and the disease remained significant, when non-IBD participants were compared with UC (homozygous carrier genotype frequencies, P=0.022) or Crohn's disease (homozygous carrier genotype frequencies, P=0.016) patients separately. Although the DBP position 416 alone was not found to be significantly associated with IBD, the haplotype DBP_2, consisting of 416 Asp and 420 Lys, was more frequent in the non-IBD population, particularly notably when compared with the UC group (Odds ratio, 4.390).
CONCLUSION: Our study adds DBP to the list of potential genes that contribute to the complex genetic etiology of IBD, and further emphasizes the association between vitamin D homeostasis and intestinal inflammation.
METHODS: Using TaqMan SNP technology, we have genotyped 884 individuals (636 IBD cases and 248 non-IBD controls) for the two DBP variants.
RESULTS: On statistical analysis, we observed that the DBP 420 variant Lys is less frequent in IBD cases than in non-IBD controls (allele frequencies, P=0.034; homozygous carrier genotype frequencies, P=0.006). This inverse association between the DBP 420 Lys and the disease remained significant, when non-IBD participants were compared with UC (homozygous carrier genotype frequencies, P=0.022) or Crohn's disease (homozygous carrier genotype frequencies, P=0.016) patients separately. Although the DBP position 416 alone was not found to be significantly associated with IBD, the haplotype DBP_2, consisting of 416 Asp and 420 Lys, was more frequent in the non-IBD population, particularly notably when compared with the UC group (Odds ratio, 4.390).
CONCLUSION: Our study adds DBP to the list of potential genes that contribute to the complex genetic etiology of IBD, and further emphasizes the association between vitamin D homeostasis and intestinal inflammation.
Keywords
Adolescent, Adult, Aged, Aged, 80 and over, Case-Control Studies, Female, Gene Frequency, Genetic Association Studies, Genetic Predisposition to Disease, Genotype, Haplotypes, Humans, Inflammatory Bowel Diseases/genetics, Male, Middle Aged, Polymorphism, Genetic, Polymorphism, Single Nucleotide, Vitamin D-Binding Protein/genetics
Pubmed
Web of science
Create date
15/03/2012 16:54
Last modification date
20/08/2019 15:27
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