Vitamin D Receptor Gene Polymorphisms Influence T1D Susceptibility Among Pakistanis

Overview

Journal Int J Genomics

Publisher Wiley

Date 2018 Jan 16

PMID 29333433

Citations 18

Authors

Maryam Mukhtar

Andleeb Batool

Abdul Wajid

Iram Qayyum

Affiliations

Soon will be listed here.

Abstract

Background: 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.

Methods: 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.

Results: 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).

Conclusion: polymorphisms were identified as susceptible regions for T1D development in the Pakistani population.

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