Department of Human Genetics, Guru Nanak Dev University, Amritsar, Punjab 143005, India.
Gene. 2013 Sep 15;527(1):228-34. doi: 10.1016/j.gene.2013.05.075. Epub 2013 Jun 10.
In Type 2 Diabetes (T2D), adiponectin (AdipoQ) and sulphonylurea receptor genes (ABCC8) are important targets for candidate gene association studies. The single nucleotide polymorphisms (SNPs) in these genes have been associated with features of the metabolic syndrome across various populations. The present case-control study undertaken in the population of Punjab, evaluates the association of +45T>G polymorphism in AdipoQ gene; and Exon16-3C>T as well as Exon18C>T polymorphisms in ABCC8 gene with T2D. These SNPs were genotyped in 200 T2D cases and 200 non-diabetic healthy controls using the PCR-RFLP method. The frequency of the minor G-allele for AdipoQ+45(T>G) polymorphism was significantly higher in T2D cases (29.0%) than in controls (21.5%) [P=0.02, OR=1.49 (1.07-2.04)]. The genetic model analysis revealed that the G-allele cumulatively provides nearly 1.59-1.78 fold increased risk to T2D under the additive (P=0.009; OR=1.59, 1.12-2.25 at 95% CI), dominant (TG/GG vs. TT) (P=0.034, OR=1.64, 1.04-2.56 at 95% CI) and codominant model (TG vs. TT/GG) (P=0.014; OR=1.78, 1.12-2.82 at 95% CI) after adjusting for confounding factors. However, no difference in the distribution of genotype and allele frequencies was observed for both the ABCC8 polymorphisms. The distribution of obesity profiles (BMI, WC and WHR) was also significantly different between cases and controls (P<0.05). Higher BMI and central obesity were observed to increase the risk of T2D. G-allele of +45(T>G) polymorphism in the adiponectin gene appears to be associated with increased risk of T2D, but the polymorphisms in sulphonylurea receptor gene do not seem to be associated with T2D in the population of Punjab.
在 2 型糖尿病 (T2D) 中,脂联素 (AdipoQ) 和磺酰脲受体基因 (ABCC8) 是候选基因关联研究的重要靶点。这些基因中的单核苷酸多态性 (SNP) 已与不同人群的代谢综合征特征相关联。本研究在旁遮普人群中进行了一项病例对照研究,评估了脂联素基因中的 +45T>G 多态性以及 ABCC8 基因中的 Exon16-3C>T 和 Exon18C>T 多态性与 T2D 的关联。采用 PCR-RFLP 方法对 200 例 T2D 病例和 200 例非糖尿病健康对照者进行了这些 SNP 的基因分型。AdipoQ+45(T>G) 多态性的小 G 等位基因在 T2D 病例中的频率明显高于对照组 (29.0%比 21.5%) [P=0.02,OR=1.49(1.07-2.04)]。遗传模型分析显示,G 等位基因累积在加性模型下 (P=0.009;OR=1.59,95%CI 为 1.12-2.25)、显性模型 (TG/GG 比 TT) (P=0.034,OR=1.64,95%CI 为 1.04-2.56)和共显性模型 (TG 比 TT/GG) (P=0.014;OR=1.78,95%CI 为 1.12-2.82)下,G 等位基因赋予 T2D 近 1.59-1.78 倍的风险,这些风险在调整混杂因素后仍然显著。然而,ABCC8 两个多态性的基因型和等位基因频率分布没有差异。病例和对照组之间肥胖特征 (BMI、WC 和 WHR) 的分布也有显著差异 (P<0.05)。较高的 BMI 和中心性肥胖与 T2D 风险增加有关。脂联素基因中的 +45(T>G) 多态性的 G 等位基因似乎与 T2D 风险增加有关,但磺酰脲受体基因的多态性似乎与旁遮普人群的 T2D 无关。
Endocr Metab Immune Disord Drug Targets. 2024