TY - JOUR
T1 - Vitamin D Receptor Gene Single Nucleotide Polymorphisms and Association with Vitamin D Levels and Endoscopic Disease Activity in Inflammatory Bowel Disease Patients
T2 - A Pilot Study
AU - Shirwaikar Thomas, Anusha
AU - Criss, Zachary K.
AU - Shroyer, Noah F.
AU - Abraham, Bincy P.
N1 - Publisher Copyright:
© 2020 Crohn's & Colitis Foundation. Published by Oxford University Press. All rights reserved.
PY - 2021/8/1
Y1 - 2021/8/1
N2 - Background: Inflammatory bowel diseases (IBDs) comprise a heterogenous group of chronic gastrointestinal disorders that are multifactorial in etiology. Experimental in vitro and in vivo studies suggest that intestinal vitamin D receptor (VDR) signaling plays a role in modulating the immune response in IBD as a cause and/or a consequence of chronic inflammation. Aim: The aim of this study is to study the associations between vitamin D receptor gene single nucleotide polymorphisms(SNPs), vitamin D levels, and endoscopic disease activity in IBD. Methods: This is a cross-sectional analysis of IBD patients who underwent endoscopic evaluation at a tertiary care hospital. Demographic variables, IBD disease type and location, medical therapies, vitamin D levels, and endoscopic disease activity were collected. Colonic biopsies obtained were investigated for the presence of VDR SNPs: ApaI, TaqI, BsmI, FokI, and Tru9I. Results: Patients in endoscopic remission had higher vitamin D levels compared with those with inflammation found on endoscopy (P = <0.001). Patients with lower vitamin D levels were homozygous for Fok ancestral alleles (P = 0.0045). With regard to endoscopic disease activity, we found no differences in mutations of any of the VDR SNPs in our sample. Conclusions: The association between the presence of the ancestral FokI and lower vitamin D levels suggests a multifactorial etiology for vitamin D deficiency in IBD. Higher vitamin D levels in those in endoscopic remission compared with lower levels in those with active inflammation suggests that the impact of VDR gene SNP on disease activity may be overcome with replacement therapy.
AB - Background: Inflammatory bowel diseases (IBDs) comprise a heterogenous group of chronic gastrointestinal disorders that are multifactorial in etiology. Experimental in vitro and in vivo studies suggest that intestinal vitamin D receptor (VDR) signaling plays a role in modulating the immune response in IBD as a cause and/or a consequence of chronic inflammation. Aim: The aim of this study is to study the associations between vitamin D receptor gene single nucleotide polymorphisms(SNPs), vitamin D levels, and endoscopic disease activity in IBD. Methods: This is a cross-sectional analysis of IBD patients who underwent endoscopic evaluation at a tertiary care hospital. Demographic variables, IBD disease type and location, medical therapies, vitamin D levels, and endoscopic disease activity were collected. Colonic biopsies obtained were investigated for the presence of VDR SNPs: ApaI, TaqI, BsmI, FokI, and Tru9I. Results: Patients in endoscopic remission had higher vitamin D levels compared with those with inflammation found on endoscopy (P = <0.001). Patients with lower vitamin D levels were homozygous for Fok ancestral alleles (P = 0.0045). With regard to endoscopic disease activity, we found no differences in mutations of any of the VDR SNPs in our sample. Conclusions: The association between the presence of the ancestral FokI and lower vitamin D levels suggests a multifactorial etiology for vitamin D deficiency in IBD. Higher vitamin D levels in those in endoscopic remission compared with lower levels in those with active inflammation suggests that the impact of VDR gene SNP on disease activity may be overcome with replacement therapy.
KW - inflammatory bowel disease
KW - vitamin D
KW - vitamin D receptor
UR - http://www.scopus.com/inward/record.url?scp=85112259975&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=85112259975&partnerID=8YFLogxK
U2 - 10.1093/ibd/izaa292
DO - 10.1093/ibd/izaa292
M3 - Article
C2 - 33165606
AN - SCOPUS:85112259975
SN - 1078-0998
VL - 27
SP - 1263
EP - 1269
JO - Inflammatory bowel diseases
JF - Inflammatory bowel diseases
IS - 8
ER -