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沙特人群中N-乙酰转移酶1和2基因多态性与2型糖尿病风险

N-acetyltransferase 1 and 2 polymorphisms and risk of diabetes mellitus type 2 in a Saudi population.

作者信息

Al-Shaqha Waleed M, Alkharfy Khalid M, Al-Daghri Nasser M, Mohammed Abdul Khader

机构信息

Dr. Khalid M. Alkharfy, Department of Clinical Pharmacy,, College of Pharmacy,, King Saud University,, PO Box 2457, Riyadh 11451,, Saudi Arabia, T: +966 1-467-7494, F: +966 1-467-7480,

出版信息

Ann Saudi Med. 2015 May-Jun;35(3):214-21. doi: 10.5144/0256-4947.2015.214.

Abstract

BACKGROUND AND OBJECTIVES

There have been inconsistent reports on N-acetyltransferase (NAT) gene polymorphism in type 2 diabetes mellitus (T2DM), and data is particularly limited in the Arab population. Therefore, the main objective of this study was to identify whether the genetic polymorphisms of NAT1 and NAT2 play a role in susceptibility to T2DM in the Saudi population.

DESIGN AND SETTINGS

A population-based, prospective genetic association case-control study on a Saudi population.

PATIENTS AND METHODS

Whole blood, anthropometric measurements and biochemistry data were collected from 369 Saudi individuals (186 T2DM patients and 183 healthy controls). DNA was isolated from the blood. Polymorphism of NAT1 and NAT2 SNPs [NAT27B, rs1041983(C > T); NAT27, rs1799931(G > A); NAT26A, rs1799930(G > A); NAT25A, rs1799929(C > T); and NAT1*11A, rs4986988(C > T)] were evaluated by allelic discrimination using real-time PCR.

RESULTS

Subjects with T2DM had a significantly increased body mass index (BMI), waist circumference, sys.tolic and diastolic blood pressure, glucose, triglycerides, and LDL-cholesterol compared with healthy controls (P < .05). The rs1799931(G > A) genotype was detected in the control population but not in the T2DM population (P < .001). The wild type (G) allele frequency was higher in T2DM than controls (P=.038). The mutant allele (A) in rs1799931(G > A) had a protective effect for T2DM (OR 0.32, 95% CI 0.16-0.62; P=.001). Regression analysis showed that BMI, systolic BP and triglycerides are potential risk factors for T2DM.

CONCLUSION

The genotypes as well as the individual alleles of rs1799931(G > A) differed significantly be.tween the case and control populations. The variation in the data reported so far suggest that polymorphism of the NAT gene may vary among different geographical areas. Environmental or dietary factors may also contribute to disease manifestation.

摘要

背景与目的

关于2型糖尿病(T2DM)中N - 乙酰转移酶(NAT)基因多态性的报道并不一致,且阿拉伯人群的数据尤为有限。因此,本研究的主要目的是确定NAT1和NAT2的基因多态性是否在沙特人群对T2DM的易感性中起作用。

设计与背景

一项基于沙特人群的前瞻性遗传关联病例对照研究。

患者与方法

从369名沙特人(186名T2DM患者和183名健康对照)中收集全血、人体测量数据和生化数据。从血液中提取DNA。通过实时PCR等位基因鉴别法评估NAT1和NAT2单核苷酸多态性(SNPs)[NAT27B,rs1041983(C>T);NAT27,rs1799931(G>A);NAT26A,rs1799930(G>A);NAT25A,rs1799929(C>T);以及NAT1*11A,rs4986988(C>T)]。

结果

与健康对照相比,T2DM患者的体重指数(BMI)、腰围、收缩压和舒张压、血糖、甘油三酯和低密度脂蛋白胆固醇显著升高(P<.05)。在对照人群中检测到rs1799931(G>A)基因型,但在T2DM人群中未检测到(P<.001)。T2DM患者中野生型(G)等位基因频率高于对照组(P=.038)。rs1799931(G>A)中的突变等位基因(A)对T2DM有保护作用(OR 0.32,95%CI 0.16 - 0.62;P=.001)。回归分析表明,BMI、收缩压和甘油三酯是T2DM的潜在危险因素。

结论

病例组和对照组人群中rs1799931(G>A)的基因型以及单个等位基因存在显著差异。目前报道的数据差异表明,NAT基因的多态性可能因不同地理区域而异。环境或饮食因素也可能导致疾病表现差异。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/572f/6074463/95a24d28b36e/asm-3-214f1.jpg

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