Association of vitamin D receptor gene polymorphisms and haplotypes with Crohn ' s disease
10.3969/j.issn.1006?5725.2017.05.016
- VernacularTitle:维生素D受体基因多态性及单倍型与克罗恩病的相关性
- Author:
Jihua PEI
;
Hao WU
;
Xiuqing LIN
;
Jie JIN
;
Ran DING
;
Yi JIANG
- Keywords:
Crohn′s disease;
Vitamin D receptor;
Single nucleotide polymorphism;
Haplotype
- From:
The Journal of Practical Medicine
2017;33(5):735-738
- CountryChina
- Language:Chinese
-
Abstract:
Objective To analyze the association of Crohn's disease(CD)with vitamin D receptor(VDR) gene polymorphisms. Methods After collecting 326 CD patients and 464 healthy controls,the four single nucleotide polymorphisms of VDR (FokI, BsmI, ApaI and TaqI) were examined by a SNaPshot technique. Results Compared with those in controls,the frequencies of mutant allele(A)and genotype(GA+AA)of BsmI were significantly decreased in CD patients(both P=0.001). The similar conclusions were also drawn for the mutant allele(C)and genotype(TC+CC)of TaqI(both P<0.05). In further stratified analysis,compared with those in controls,the mutant alleles and genotypes of BsmI and TaqI were significantly reduced in stenotic type CD patients (all P<0.0083). The analyses of linkage disequilibrium(LD)and haplotype showed that BsmI,ApaI and TaqI were in a strong LD,and the formed haplotype AAC was significantly lower in CD patients than that in controls (P <0.05). Conclusions VDR(BsmI and TaqI)polymorphisms are significantly related with the reduced susceptibility to CD,especially for patients with stenotic CD. Moreover,the haplotype AAC might engender a reduced risk of CD.
