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维生素D受体(FokI、BsmI和TaqI)基因多态性与2型糖尿病:一项北印度研究。

Vitamin D receptor (FokI, BsmI and TaqI) gene polymorphisms and type 2 diabetes mellitus: a North Indian study.

作者信息

Bid Hemant Kumar, Konwar Rituraj, Aggarwal C G, Gautam Sunaina, Saxena Madhukar, Nayak V Lakshma, Banerjee Monisha

机构信息

Endocrinology Division, CDRI, Lucknow, India.

出版信息

Indian J Med Sci. 2009 May;63(5):187-94.

PMID:19584489
Abstract

BACKGROUND

The vitamin D receptor (VDR) gene is a candidate gene for susceptibility to several diseases. Studies on association between VDR polymorphisms and risk of type 2 diabetes (T2DM) in different ethnic populations are yet inconclusive.

AIMS

This study was conducted to evaluate association between VDR polymorphisms and genetic susceptibility to T2DM in the north Indian population.

SETTINGS AND DESIGN

One hundred clinically diagnosed T2DM patients and 160 healthy controls from the north Indian population were recruited for genetic association study.

MATERIALS AND METHODS

Genomic DNA was extracted from blood and genotyped for the single nucleotide polymorphism SNPs of FokI (T/C) [rs2228570], BsmI (A/G) [rs1544410] and TaqI (C/T) [rs731236] by polymerase chain reaction and restriction fragment length polymorphism (PCR-RFLP) analysis.

STATISTICAL ANALYSIS USED

Genotype distribution and allelic frequencies were compared between patients and controls. Mean values and odds ratios (ORs) with 95% confidence interval (CI) were calculated using SPSS software (version 15.0).

RESULTS

The genotype distribution, allele and haplotype frequencies of VDR polymorphism did not differ significantly between patients and controls. Mean age and waist-hip ratio of patients were found to be associated with VDR polymorphism. Combination studies showed FFBbtt increased the risk of T2DM in north Indians.

CONCLUSIONS

Our data suggest that VDR gene polymorphism in combination of genotypes is associated with the risk of T2DM and thus requires further studies as a probable genetic risk marker for T2DM.

摘要

背景

维生素D受体(VDR)基因是多种疾病易感性的候选基因。不同种族人群中VDR基因多态性与2型糖尿病(T2DM)风险之间的关联研究尚无定论。

目的

本研究旨在评估北印度人群中VDR基因多态性与T2DM遗传易感性之间的关联。

设置与设计

招募了100名来自北印度人群的临床诊断T2DM患者和160名健康对照进行遗传关联研究。

材料与方法

从血液中提取基因组DNA,并通过聚合酶链反应和限制性片段长度多态性(PCR-RFLP)分析对FokI(T/C)[rs2228570]、BsmI(A/G)[rs1544410]和TaqI(C/T)[rs731236]的单核苷酸多态性(SNP)进行基因分型。

所用统计分析方法

比较患者和对照之间的基因型分布和等位基因频率。使用SPSS软件(版本15.0)计算平均值和比值比(OR)以及95%置信区间(CI)。

结果

患者和对照之间VDR基因多态性的基因型分布、等位基因和单倍型频率没有显著差异。发现患者的平均年龄和腰臀比与VDR基因多态性有关。联合研究表明FFBbtt增加了北印度人患T2DM的风险。

结论

我们的数据表明,VDR基因多态性的基因型组合与T2DM风险相关,因此作为T2DM可能的遗传风险标志物需要进一步研究。

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