Prevalence of GCKR rs1260326 Variant in Subjects with Obesity Associated NAFLD and T2DM: A Case-Control Study in South Punjab, Pakistan.

IF 3.8 Q2 ENDOCRINOLOGY & METABOLISM
Journal of Obesity Pub Date : 2023-10-04 eCollection Date: 2023-01-01 DOI:10.1155/2023/6661858
Tayyaba Nisar, Kashan Arshad, Zahid Abbas, Maira Ali Khan, Sohail Safdar, Rehan Sadiq Shaikh, Ali Saeed
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Abstract

The glucokinase regulatory protein (GCKR) regulates glycogen metabolism and insulin secretion, and the GCKR rs1260326 is a putative single nucleotide polymorphism (SNP) associated with metabolic disorders including nonalcoholic fatty liver disease (NAFLD) and type 2 diabetes mellitus (T2DM). This study was conducted to investigate the genetic association of the GCKR rs1260326 in NAFLD and T2DM in our population. NAFLD (n = 103), T2DM (n = 100), and control (n = 100) samples were collected and genotyped for GCKR rs1260326 by tetra-arm PCR. The genetic variant GCKR rs1260326 was significantly linked with NAFLD and T2DM, while the GCKR rs1260326 was significantly associated with the progression of obesity only in NAFLD subjects. The frequency of the C allele (mutant) was higher in both NAFLD (f = 0.69) and T2DM (f = 0.66) subjects as compared to healthy controls of NAFLD (0.52) and T2DM (f = 0.32). The frequency of the C allele was also positively linked with the progression of obesity in both diseases. The frequency of the C allele was 0.66, 0.67, and 0.74 in NAFLD normal weight, overweight, and obese subjects, respectively, while the frequency of the C allele was 0.60, 0.60, and 0.74 in T2DM in normal weight, overweight, and obese subjects, respectively. Homozygous mutant (CC) was 53% in both NAFLD and T2DM subjects, while heterozygous mutant (CT) was 15.53% in NAFLD and 22% in T2DM subjects. Wild-type allele (TT) was 31.06% in NAFLD and 25% in T2DM subjects. In conclusion, the GCKR rs1260326 is a highly prevalent SNP in NAFLD and T2DM subjects, which possibly contributed to obesity, insulin resistance, and metabolic disorders in our population.

Abstract Image

肥胖相关NAFLD和T2DM受试者GCKR rs1260326变体的患病率:巴基斯坦旁遮普省南部的一项病例对照研究。
葡萄糖激酶调节蛋白(GCKR)调节糖原代谢和胰岛素分泌,GCKR rs1260326是一种假定的单核苷酸多态性(SNP),与包括非酒精性脂肪肝(NAFLD)和2型糖尿病(T2DM)在内的代谢紊乱有关。本研究旨在研究GCKR rs1260326在我们人群中NAFLD和T2DM中的遗传相关性。NAFLD(n = 103)、T2DM(n = 100)和对照(n = 100)样品,并通过四臂PCR对GCKR rs1260326进行基因分型。遗传变异GCKR rs1260326与NAFLD和T2DM显著相关,而仅在NAFLD受试者中,GCKR rss1260326才与肥胖进展显著相关。C等位基因(突变)的频率在两种NAFLD中均较高(f = 0.69)和T2DM(f = 0.66)受试者与NAFLD(0.52)和T2DM(f = 0.32)。在这两种疾病中,C等位基因的频率也与肥胖的进展呈正相关。在NAFLD正常体重、超重和肥胖受试者中,C等位基因的频率分别为0.66、0.67和0.74,而在T2DM正常体重、过重和肥胖受检者中,C等位基因频率分别为0.60、0.60和0.74。纯合突变体(CC)在NAFLD和T2DM受试者中均为53%,而杂合突变体(CT)在NALD和T2DM患者中分别为15.53%和22%。野生型等位基因(TT)在NAFLD患者中为31.06%,在T2DM患者中为25%。总之,GCKR rs1260326是NAFLD和T2DM受试者中高度流行的SNP,可能导致我们人群中的肥胖、胰岛素抵抗和代谢紊乱。
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来源期刊
Journal of Obesity
Journal of Obesity ENDOCRINOLOGY & METABOLISM-
CiteScore
7.50
自引率
3.00%
发文量
19
审稿时长
21 weeks
期刊介绍: Journal of Obesity is a peer-reviewed, Open Access journal that provides a multidisciplinary forum for basic and clinical research as well as applied studies in the areas of adipocyte biology & physiology, lipid metabolism, metabolic syndrome, diabetes, paediatric obesity, genetics, behavioural epidemiology, nutrition & eating disorders, exercise & human physiology, weight control and health risks associated with obesity.
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