Vitamin D receptor gene polymorphism: association with Crohn's disease susceptibility

• Published in: Gut Vol. 47; no. 2; pp. 211 - 214
• Main Authors: Simmons, J D, Mullighan, C, Welsh, K I, Jewell, D P
• Format: Journal Article
• Language: English
• Published: London BMJ Publishing Group Ltd and British Society of Gastroenterology 01.08.2000; BMJ; BMJ Publishing Group LTD
• Subjects: Adolescent; Adult; Aged; Aged, 80 and over; Biological and medical sciences; candidate genes; Case-Control Studies; Child; Colitis, Ulcerative - genetics; Crohn Disease - genetics; Digestive system; Female; Genes; Genetic Predisposition to Disease; genetics; Genotype; Humans; Inflammatory bowel disease; Investigative techniques, diagnostic techniques (general aspects); Male; Medical sciences; Middle Aged; Pathology. Cytology. Biochemistry. Spectrometry. Miscellaneous investigative techniques; Polymerase Chain Reaction; Polymorphism, Genetic; Receptors, Calcitriol - genetics; Rodents; Vitamin D; Human; Linkage; Pathophysiology; Vitamin; Receiver; Inflammatory disease; Result; Crohn disease; Gene; Vitamin D; Digestive diseases; Intestinal disease; Comparative study; Polymorphism
• ISSN: 0017-5749; 1468-3288; 1458-3288
• DOI: 10.1136/gut.47.2.211

BACKGROUND The vitamin D receptor (VDR) gene represents a strong positional candidate susceptibility gene for inflammatory bowel disease (IBD). The VDR gene maps to a region on chromosome 12 that has been shown to be linked to IBD by genome screening techniques. It is the cellular receptor for 1,25(OH)2 vitamin D3 (calcitriol) which has a wide range of different regulatory effects on the immune system. IBD is characterised by activation of the mucosal immune system. AIM To determine if polymorphisms in the VDR gene are associated with susceptibility to IBD SUBJECTS European Caucasoids: 158 patients with ulcerative colitis, 245 with Crohn's disease, and 164 cadaveric renal allograft donor controls. METHOD Single nucleotide polymorphisms (TaqI,ApaI, and FokI) in VDR were typed in patients with Crohn's disease, ulcerative colitis, and controls by polymerase chain reaction with sequence specific primers. RESULTS There were significantly more homozygotes for the TaqI polymorphism at codon 352 of exon 8 (genotype “tt”) among patients with Crohn's disease (frequency 0.22) than patients with ulcerative colitis (0.12) or controls (0.12) (odds ratio 1.99; 95% confidence interval 1.14–3.47; p=0.017). CONCLUSION This study provides preliminary evidence for a genetic association between Crohn's disease susceptibility and a gene that lies within one of the candidate regions determined by linkage analysis.