Review Article

Vitamin D and Inflammatory Bowel Disease

Table 1

Genetic polymorphisms and IBD (chronological order).

AuthorYearPopulationInvestigated gene polymorphisms Main findings

Single- or multicenter studies

Simmons et al. [23]2000England 158 UC, 245 CD,
164 CRADC
VDR: TaqI, ApaI, FokI TaqI polymorphism (“tt” genotype) more frequent in CD compared to UC or controls

Martin et al. [24]2002Germany, 95 CD, 93 UC, 119 HCVDR: TaqITaqI (“tt” genotype) significantly more frequent in fistulizing and stenosing CD

Dresner-Pollak et al. [36]2004Israel, 228 CD (129 Ashkenazi and 99 non-Ashkenazi), 151 UC (72 Ashkenazi, 79 non-Ashkenazi), 495 HC (352 non-Ashkenazi and 143 Ashkenazi)VDR: BsmIBB genotype more frequent in Ashkenazi UC compared to Ashkenazi HC

Noble et al. [34]2008United Kingdom, 286 CD, 154 UC, 240 HCVDR: TaqI, ApaIOverall no differences between CD, UC, and HC for TaqI and ApaI. TaqI variants more frequent in male IBD patients compared to (male) HC

Naderi et al. [37]2008Iran, 150 UC, 80 CD, 150 HCVDR: ApaI, TaqI, BsmI, FokIFokI polymorphism significantly higher in UC and CD. Frequency of polymorphic “f” allele and f/f genotype higher in UC and CD comparing with HC

Pluskiewicz et al. [30]2009Poland, 47 UC, 47 HCVDR: TaqI, BsmI, ApaINo differences between UC and HC

Hughes et al. [29]2011Ireland, 660 IBD, 699 HCVDR: ApaI, TaqI, BsmI, FokIBorderline significance for heterozygous carriage of the FokI allele

Pei et al. [31]2011China, 218 UC, 251 HCVDR: ApaI, TaqI, BsmI, FokIOnly Bb genotype of the BsmI variant associated with UC; frequency of the BsmI polymorphic allele (B) increased in UC

Eloranta et al. [42]2011Switzerland, 404 CD, 232 UC, 248 HCDBP: rs 7041, rs 4588Significantly reduced frequency of the 420 variant Lys in IBD compared to controls

Bentley et al. [35]2011New Zealand, 449 CD, 448 UC, 482 HCVDR: FokI, TaqI No overall differences, only a higher minor allele frequency for TaqI, in male CD and UC compared to HC

Luo et al. [33]2013China, 19 CD, 122 HCVDR: ApaI, TaqI, BsmINo significant differences in the frequencies of TaqI, BsmI, and ApaI polymorphisms

Xia et al. [32]2014China 382 UC, 489 HCVDR: ApaI, TaqI, BsmI, FokI No difference between UC and HC. The mutant allele C and genotype TC + CC of FokI were significantly increased in patients with mild and moderate UC compared to severe UC. The frequency of AAC haplotype was statistically lower in UC than HC (AAC haplotype formed by the VDR BsmI, ApaI, and TaqI gene might engender a reduced risk of UC attack)

Meta-analyses

Xue et al. [38]2013ApaI: 1024 CD, 974 UC, 1551 HC
FokI: 1187 CD, 1221 UC, 1746 HC
BsmI: 721 CD, 813 UC, 1642 HC
TaqI: 1568 CD, 1515 UC, 2152 HC
VDR: ApaI, TaqI, BsmI, FokIFokI “ff” genotype associated with a significant risk for UC in Asians; TaqI “tt” genotype associated with an increased risk for CD in Europeans and with an increased risk for CD and UC in Asian males. ApaI “a” allele confers protection from CD

Wang et al. [39]2014ApaI: 940 CD, 962 UC, 1468 HC
FokI: 1098 CD, 1217 UC, 1676 HC
BsmI: 713 CD, 799 UC, 1616 HC
TaqI: 1553 CD, 1500 UC, 2145 HC
VDR: ApaI, TaqI, BsmI, FokIApaI, BsmI, and FokI are not significantly associated with IBD. Significant association between TaqI polymorphism and IBD risk.
In subgroups, ApaI increases the overall CD risk and BsmI increases this CD risk only in East Asians, whereas TaqI reduces the risk for UC especially in Caucasians

CD: Crohn’s disease; UC: ulcerative colitis; CRADC: cadaveric renal allograft donor controls; PCR: polymerase chain reaction; IBD: inflammatory bowel disease; HC: healthy controls; DBP: vitamin-D-binding protein; VDR: vitamin D receptor.
Article in Chinese.