Influence of the genetic polymorphism of haptoglobin in the occurrence of retinopathy and nephropathy in diabetics subjects

Sagne René Ngor, Djité Moustapha, Kandji Pape Matar, Diop Jean Pascal Demba, Barry Nene Oumou Kesso, Thioune Ndeye Marieme, N. H. Malick, G. Fatou, N. Rokhaya, Lopez-Sall PhilomeÌ€ne, C. Aynina, D. Amadou, Ndour-Mbaye Maimouna, Gueye Papa Madièye
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Abstract

The objective of this study was to determine the frequency of haptoglobin (Hp) genotypes and their association with nephropathy and retinopathy in diabetic subjects. This is a case-control study conducted in diabetic subjects developing nephropathy and/or retinopathy. Each patient was matched to a control of the same sex and the same age ± 2 years. Hp genotyping was performed by conventional PCR without enzymatic digestion on the Proflex® System PCR (Biosystems, Spain) and the biochemical parameters were determined using enzymatic techniques with the Cobas c311 system (Roche Diagnostics, Switzerland). The study population consisted of 60 diabetic subjects with an average age of 56 years and a sex ratio of 0.43. The Hp2-2 genotype was more frequent in diabetic subjects (40%) compared to control subjects (28.3%) (p= 0.18). The distribution of Hp1-1 and Hp2-1 genotypes in diabetic subjects showed rates of 46.7 and 13.3% respectively.  Multivariate analysis showed that the Hp 2-2 genotype was more associated with nephropathy (OR=1.77; p=0.8). These results showed an association between Hp polymorphism and diabetic microangiopathy. Thus, Hp2-2 genotype could be associated with a risk factor predisposing to the onset of diabetic kidney disease.   Key words: Polymorphism, gene, haptoglobin, diabetes, nephropathy, retinopathy.
接触珠蛋白基因多态性对糖尿病患者视网膜病变和肾病发生的影响
本研究的目的是确定接触珠蛋白(Hp)基因型的频率及其与糖尿病患者肾病和视网膜病变的关系。这是一项病例对照研究,在发生肾病和/或视网膜病变的糖尿病受试者中进行。每名患者与一名同性别、同年龄±2岁的对照组相匹配。Hp基因分型在Proflex®System PCR (Biosystems,西班牙)上采用常规PCR,无酶切,生化参数采用Cobas c311系统(Roche Diagnostics,瑞士)的酶促技术测定。研究人群包括60名糖尿病患者,平均年龄56岁,性别比例为0.43。Hp2-2基因型在糖尿病患者中的发生率为40%,高于对照组的28.3% (p= 0.18)。Hp1-1和Hp2-1基因型在糖尿病患者中的分布比例分别为46.7%和13.3%。多因素分析显示,Hp 2-2基因型与肾病的相关性更高(OR=1.77;p = 0.8)。这些结果表明Hp多态性与糖尿病微血管病变之间存在关联。因此,Hp2-2基因型可能与糖尿病肾病发病的危险因素相关。关键词:多态性,基因,触珠蛋白,糖尿病,肾病,视网膜病变。
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