Gautam Sunaina, Agrawal Chandra Gupta, Banerjee Monisha
1 Molecular and Human Genetics Laboratory, Department of Zoology, University of Lucknow , Lucknow, India .
Genet Test Mol Biomarkers. 2015 Mar;19(3):144-9. doi: 10.1089/gtmb.2014.0265. Epub 2015 Jan 7.
Type 2 diabetes (T2DM) is a noncommunicable disease affecting huge populations in India and abroad. Single-nucleotide polymorphisms (SNPs) in CD36, a macrophage scavenger receptor, have been implicated in the pathogenesis of T2DM and its complications. Eleven SNPs in the CD36 gene and their association with 100 each of control subjects and T2DM patients were investigated in the present study. The haplotype analysis of a few significant SNPs was carried out in individuals from families with diabetic history to evaluate its utility in disease prediction. Polymerase chain reaction-restriction fragment length polymorphism was used for genotyping. Ten families with a family history of diabetes were identified and blood samples were collected from as many family members as possible. Genotyping of three SNPs, namely rs1761667 (G>A) in exon 1 A, rs3211938 (T>G) in exon 10, and rs3212018 (16 bp del) in exon 14, was performed in all samples. Our results suggested that individuals having a GATTC1 haplotype might be at risk of developing T2DM (p<0.001) and, therefore, might be susceptible to related complications. Moreover, the presence of A, G, and G alleles of SNPs rs1761667 (G>A), rs3211938 (T>G), and rs1984112 (T>G) tends to have increased BMI, respectively. Such studies may be helpful for disease prediction in individuals at risk of T2DM. The predictive potential of CD36 variants can be explored with more families in the study population to use this as a genetic marker.
2型糖尿病(T2DM)是一种影响印度国内外大量人群的非传染性疾病。巨噬细胞清道夫受体CD36中的单核苷酸多态性(SNP)与T2DM及其并发症的发病机制有关。本研究调查了CD36基因中的11个SNP及其与100名对照受试者和100名T2DM患者的关联。对有糖尿病家族史的个体进行了一些显著SNP的单倍型分析,以评估其在疾病预测中的效用。采用聚合酶链反应-限制性片段长度多态性进行基因分型。确定了10个有糖尿病家族史的家庭,并尽可能多地采集家庭成员的血样。对所有样本进行了3个SNP的基因分型,即外显子1A中的rs1761667(G>A)、外显子10中的rs3211938(T>G)和外显子14中的rs3212018(16bp缺失)。我们的结果表明,具有GATTC1单倍型的个体可能有患T2DM的风险(p<0.001),因此可能易患相关并发症。此外,SNP rs1761667(G>A)、rs3211938(T>G)和rs1984112(T>G)的A、G和G等位基因的存在往往分别会使体重指数升高。此类研究可能有助于对有T2DM风险的个体进行疾病预测。可以在研究人群中对更多家庭进行探索性研究,以发掘CD36变异体的预测潜力,从而将其用作遗传标记。