Mukhtar Maryam, Batool Andleeb, Wajid Abdul, Qayyum Iram
Department of Zoology, G.C. University, Punjab, Lahore 54000, Pakistan.
Department of Biotechnology, Virtual University of Pakistan, 1-Davis Road Lahore 54000, Pakistan.
Int J Genomics. 2017;2017:4171254. doi: 10.1155/2017/4171254. Epub 2017 Dec 3.
The vitamin D receptor () gene regulates insulin secretion from the pancreas and acts as a mediator of the immune response through vitamin D. Polymorphism in causes alterations in the functioning of vitamin D, leading to type 1 diabetes (T1D) predisposition. The aim of the present study was to determine gene polymorphism in association with T1D in Pakistanis.
The association was evaluated by selecting rs2228570 (), rs7975232 (Ι), and rs731236 (Ι) polymorphic sites in 102 patients and 100 controls. Genotypes were identified by DNA sequencing and PCR-RFLP.
The allelic and genotypic frequencies of and I were significantly associated with T1D ( < 0.001) development. At the Ι site, tryptophan was replaced with arginine due to polymorphism. A novel SNP (GeneBank acc number KT280406) was identified through the sequencing of intron 8, 62 bp downstream from the I polymorphic site, and significantly associated with T1D development. The did not depict any association with T1D at the allelic or genotypic level ( > 0.05). CCGC, CCGG, CCTC, and CCTG haplotypes were significantly associated with disease development ( < 0.05). However, CTGG haplotype was protective towards T1D ( < 0.01).
polymorphisms were identified as susceptible regions for T1D development in the Pakistani population.
维生素D受体（VDR）基因调节胰腺胰岛素分泌，并通过维生素D作为免疫反应的介质。VDR基因多态性导致维生素D功能改变，从而引发1型糖尿病（T1D）易感性。本研究旨在确定巴基斯坦人群中VDR基因多态性与T1D的关联。
通过选择102例患者和100例对照中的rs2228570（FokI）、rs7975232（BsmI）和rs731236（ApaI）多态性位点来评估这种关联。通过DNA测序和PCR-RFLP鉴定基因型。
FokI和BsmI的等位基因和基因型频率与T1D（P<0.001）的发生显著相关。在BsmI位点，由于多态性，色氨酸被精氨酸取代。通过对内含子8进行测序，在BsmI多态性位点下游62bp处鉴定出一个新的单核苷酸多态性（SNP，基因库登录号KT280406），且与T1D的发生显著相关。ApaI在等位基因或基因型水平上均未显示与T1D有任何关联（P>0.05）。CCGC、CCGG、CCTC和CCTG单倍型与疾病发生显著相关（P<0.05）。然而，CTGG单倍型对T1D具有保护作用（P<0.01）。
VDR基因多态性被确定为巴基斯坦人群中T1D发生的易感区域。
