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印度北部2型糖尿病患者中晚期糖基化终末产物受体(p.Gly82Ser)和锰超氧化物歧化酶(p.Val16Ala)基因多态性与糖尿病视网膜病变的相关性

Association of RAGE (p.Gly82Ser) and MnSOD (p.Val16Ala) polymorphisms with diabetic retinopathy in T2DM patients from north India.

作者信息

Vanita Vanita

机构信息

Department of Human Genetics, Guru Nanak Dev University, Amritsar, Punjab, India.

出版信息

Diabetes Res Clin Pract. 2014 Apr;104(1):155-62. doi: 10.1016/j.diabres.2013.12.059. Epub 2014 Jan 9.

Abstract

AIMS

The present study aimed to examine the association of RAGE (p.Gly82Ser) and MnSOD (p.Val16Ala) polymorphisms with diabetic retinopathy (DR) in north Indian T2DM patients.

METHODS

In this case-control association study, 758 T2DM patients were recruited. 446 with retinal neovascularization, microneurysms and hemorrhages were considered as cases (DR) and 312 patients with T2DM and no clinical signs of retinopathy (DNR), were recruited as controls. Genotypes for RAGE (p.Gly82Ser) and MnSOD (p.Val16Ala) polymorphisms were generated by direct sequencing of amplified products.

RESULTS

Genotype distribution of p.Gly82Ser (RAGE) and p.Val16Ala (MnSOD) polymorphisms were significantly different between DR and DNR (p<0.05) whereas distribution of allele frequency did not differ significantly (p>0.05). A significantly higher frequency of homozygous Ser82 genotype in DR patients was detected compared with DNR (2.4% vs 0.64%) for p.Gly82Ser (RAGE) polymorphism whereas there was a higher frequency of homozygous Ala16 genotype for p.Val16Ala (MnSOD) polymorphism in DR patients compared with DNR (22.6% vs 19.3%). Binary logistic analyses showed an association of homozygous recessive genotype Ser82 with DR (OR: 2.63%, 95% CI: 0.16-15.88, p<0.033) for p.Gly82Ser (RAGE) polymorphism. However, we did not find a significant association of p.Val16Ala polymorphism in MnSOD with retinopathy.

CONCLUSIONS

The findings indicate a statistically significant association of p.Gly82Ser polymorphism in RAGE with DR in T2DM patients.

摘要

目的

本研究旨在探讨北印度2型糖尿病患者中晚期糖基化终产物受体(RAGE,p.Gly82Ser)和锰超氧化物歧化酶(MnSOD,p.Val16Ala)基因多态性与糖尿病视网膜病变(DR)的相关性。

方法

在这项病例对照关联研究中,招募了758例2型糖尿病患者。其中446例出现视网膜新生血管、微动脉瘤和出血的患者被视为病例组(DR),312例无视网膜病变临床体征的2型糖尿病患者被招募为对照组(DNR)。通过对扩增产物进行直接测序来确定RAGE(p.Gly82Ser)和MnSOD(p.Val16Ala)基因多态性的基因型。

结果

DR组和DNR组之间,p.Gly82Ser(RAGE)和p.Val16Ala(MnSOD)基因多态性的基因型分布存在显著差异(p<0.05),而等位基因频率分布无显著差异(p>0.05)。对于p.Gly82Ser(RAGE)基因多态性,与DNR组相比,DR组中纯合Ser82基因型的频率显著更高(2.4%对0.64%);而对于p.Val16Ala(MnSOD)基因多态性,DR组中纯合Ala16基因型的频率高于DNR组(22.6%对19.3%)。二元逻辑分析显示,对于p.Gly82Ser(RAGE)基因多态性,纯合隐性基因型Ser82与DR相关(比值比:2.63%,95%置信区间:0.16 - 15.88,p<0.033)。然而,我们未发现MnSOD中p.Val16Ala基因多态性与视网膜病变有显著关联。

结论

研究结果表明,T2DM患者中RAGE基因的p.Gly82Ser多态性与DR存在统计学上的显著关联。

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