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醛糖还原酶(ALR2)调控基因多态性是印度尼西亚巴厘岛2型糖尿病患者糖尿病视网膜病变的危险因素。

Polymorphisms of Aldose Reductase (ALR2) Regulatory Gene are Risk Factors for Diabetic Retinopathy in Type-2 Diabetes Mellitus Patients in Bali, Indonesia.

作者信息

Wihandani Desak Made, Suastika Ketut, Agus Bagiada I Nyoman, Malik Safarina G

机构信息

Department of Biochemistry, Faculty of Medicine, Udayana University, Jl. PB Sudirman, Denpasar 80232, Bali, Indonesia.

Division of Endocrinology and Metabolism, Department of Internal Medicine, Faculty of Medicine, Udayana University, Jl. PB Sudirman, and Sanglah Hospital, Jl. Kesehatan, Denpasar, Bali, Indonesia.

出版信息

Open Ophthalmol J. 2018 Oct 18;12:281-288. doi: 10.2174/1874364101812010281. eCollection 2018.

Abstract

AIM

The study aimed to elucidate whether the polymorphisms of the aldose reductase regulatory gene were risk factors for Diabetic Retinopathy (DR) in type-2 diabetes mellitus (T2DM) patients in Bali.

METHODS

This is a case-control study including 35 cases of T2DM patients with DR paired with 35 cases with non-DR as controls. PCR analysis and DNA-sequencing were carried out to detect the C(-106)T and C(-12)G polymorphisms at the regulatory region of Aldose Reductase (ALR2) gene. Genotype and allele distributions were analyzed by Chi-squared test and independent t-and Mann-Whitney U tests were used to analyze other data.

RESULTS

Among all subjects in both groups, the baseline characteristics were homogenous except for systolic blood pressure, fasting blood glucose and 2-hours post-prandial blood glucose. This study found two polymorphisms, C(-104)T and C(-9)G, in the regulatory region of ALR2 gene. The result showed that the C(-104)T polymorphism was a risk factor for DR (OR=36; 95% CI = 4.43-292.85; =0.001), but not the C(-9)G polymorphism (OR=1.28; 95% CI=0.48-3.38; =0.621). Other findings in the study revealed that CC/CC haplotype is a protective factor for DR (OR=0.198; =0.002), whereas CT/CC and CT/CG haplotypes as risk factors for DR with OR=15.58; =0.002 and OR=2.29; =0.005 respectively.

CONCLUSION

It can be concluded that C(-104)T polymorphism in the regulatory region of Aldose Reductase (ALR2) gene was the risk factor for DR among T2DM patients in Bali, Indonesia. However, small sample size, systolic blood pressure, fasting blood glucose and 2-hours post-prandial blood glucose could affect our finding.

摘要

目的

本研究旨在阐明醛糖还原酶调节基因的多态性是否为巴厘岛2型糖尿病(T2DM)患者糖尿病视网膜病变(DR)的危险因素。

方法

这是一项病例对照研究,包括35例患有DR的T2DM患者,并与35例无DR的患者作为对照。采用聚合酶链反应(PCR)分析和DNA测序检测醛糖还原酶(ALR2)基因调控区的C(-106)T和C(-12)G多态性。通过卡方检验分析基因型和等位基因分布,并使用独立t检验和曼-惠特尼U检验分析其他数据。

结果

两组所有受试者的基线特征除收缩压、空腹血糖和餐后2小时血糖外均相同。本研究在ALR2基因调控区发现了两种多态性,即C(-104)T和C(-9)G。结果显示,C(-104)T多态性是DR的危险因素(OR=36;95%CI=4.43-292.85;P=0.001),而C(-9)G多态性不是(OR=1.28;95%CI=0.48-3.38;P=0.621)。该研究的其他发现表明,CC/CC单倍型是DR的保护因素(OR=0.198;P=0.002),而CT/CC和CT/CG单倍型是DR的危险因素,OR分别为15.58;P=0.

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8b6f/6198411/58d7c1ef36d5/TOOPHTJ-12-281_F1.jpg

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