Gupta Balram, Singh S K
Department of Endocrinology and Metabolism, Institute of Medical Sciences, Banaras Hindu University, Varanasi 221005.
Department of Endocrinology and Metabolism, Institute of Medical Sciences, Banaras Hindu University, Varanasi 221005.
J Diabetes Complications. 2017 Jul;31(7):1085-1089. doi: 10.1016/j.jdiacomp.2017.04.011. Epub 2017 Apr 28.
AIM/HYPOTHESIS: Polymorphism in aldose reductase (ALR) gene at nucleotide C(-106)T (rs759853) in the promoter region is associated with susceptibility to development of diabetic peripheral neuropathy. The aim of this study was to detect the association of the C (-106)T polymorphism of ALR gene and its frequency among patients with type 2 diabetes mellitus with and without peripheral neuropathy.
The study subjects were divided into three groups. Group I included 356 patients with diabetes having peripheral neuropathy. Group II included 294 patients with diabetes without peripheral neuropathy and group III included 181 healthy subjects. Genotyping of ALR C(-106)T SNPs was performed using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) and direct sequencing methods. The genetic risk among the groups was compared and tested by calculating odds ratio with 95% class interval.
ALR 106TT genotype was significantly higher in group I compared to group II with an odds ratio of 2.12 (95% CI: 1.22-3.67; p<0.01). Recessive model (CC+CT vs. TT), as well as T allele distribution also showed significant association to develop neuropathy with relative risk of 1.97 (95% CI: 1.16-3.35; p<0.01) and 1.36 (95% CI: 1.07-1.72; p=0.01) respectively.
CONCLUSION/INTERPRETATION: In conclusion, the ALR C-106T polymorphism was associated with higher risk of peripheral neuropathy in patients with type 2 diabetes mellitus.
目的/假设:醛糖还原酶(ALR)基因启动子区域核苷酸C(-106)T(rs759853)的多态性与糖尿病周围神经病变的易感性相关。本研究的目的是检测ALR基因C(-106)T多态性及其在有或无周围神经病变的2型糖尿病患者中的频率。
研究对象分为三组。第一组包括356例患有周围神经病变的糖尿病患者。第二组包括294例无周围神经病变的糖尿病患者,第三组包括181名健康受试者。使用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)和直接测序方法对ALR C(-106)T单核苷酸多态性进行基因分型。通过计算95%可信区间的比值比来比较和检验各组之间的遗传风险。
与第二组相比,第一组中ALR 106TT基因型显著更高,比值比为2.12(95%CI:1.22-3.67;p<0.01)。隐性模型(CC+CT与TT)以及T等位基因分布也显示与神经病变的发生有显著关联,相对风险分别为1.97(95%CI:1.16-3.35;p<0.01)和1.36(95%CI:1.07-1.72;p=0.01)。
结论/解读:总之,ALR C-106T多态性与2型糖尿病患者周围神经病变的较高风险相关。