PMID- 37829557 OWN - NLM STAT- MEDLINE DCOM- 20231128 LR - 20240123 IS - 2090-0716 (Electronic) IS - 2090-0708 (Print) IS - 2090-0708 (Linking) VI - 2023 DP - 2023 TI - Prevalence of GCKR rs1260326 Variant in Subjects with Obesity Associated NAFLD and T2DM: A Case-Control Study in South Punjab, Pakistan. PG - 6661858 LID - 10.1155/2023/6661858 [doi] LID - 6661858 AB - 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. CI - Copyright (c) 2023 Tayyaba Nisar et al. FAU - Nisar, Tayyaba AU - Nisar T AD - Institute of Molecular Biology and Biotechnology, Bahauddin Zakariya University, Multan 60800, Pakistan. FAU - Arshad, Kashan AU - Arshad K AD - Department of Pediatric Endocrinology and Diabetes, Pediatric Unit-1, Allied Hospital, Faisalabad 38800, Pakistan. FAU - Abbas, Zahid AU - Abbas Z AD - Institute of Molecular Biology and Biotechnology, Bahauddin Zakariya University, Multan 60800, Pakistan. FAU - Khan, Maira Ali AU - Khan MA AD - Institute of Molecular Biology and Biotechnology, Bahauddin Zakariya University, Multan 60800, Pakistan. FAU - Safdar, Sohail AU - Safdar S AD - PHRC, Nishtar Hospital, Multan 60000, Pakistan. FAU - Shaikh, Rehan Sadiq AU - Shaikh RS AD - Institute of Molecular Biology and Biotechnology, Bahauddin Zakariya University, Multan 60800, Pakistan. AD - Centre for Applied Molecular Biology, University of Punjab, Lahore, Pakistan. FAU - Saeed, Ali AU - Saeed A AUID- ORCID: 0000-0001-6255-4058 AD - Institute of Molecular Biology and Biotechnology, Bahauddin Zakariya University, Multan 60800, Pakistan. AD - Department of Pediatric Oncology and Medical Microbiology, University Medical Center Groningen, University of Groningen, Groningen 9713, Netherlands. LA - eng PT - Journal Article PT - Research Support, Non-U.S. Gov't DEP - 20231004 PL - United States TA - J Obes JT - Journal of obesity JID - 101526295 RN - 0 (Adaptor Proteins, Signal Transducing) RN - 0 (GCKR protein, human) RN - 0 (glucokinase regulatory protein) RN - Punjabi people SB - IM MH - Humans MH - Adaptor Proteins, Signal Transducing/genetics MH - Case-Control Studies MH - *Diabetes Mellitus, Type 2/epidemiology/genetics MH - *Non-alcoholic Fatty Liver Disease/epidemiology/genetics MH - Obesity/epidemiology/genetics MH - Overweight MH - Pakistan/epidemiology MH - Polymorphism, Single Nucleotide/genetics MH - Prevalence PMC - PMC10567336 COIS- The authors declare that they have no conflicts of interest. EDAT- 2023/10/13 06:46 MHDA- 2023/11/01 12:44 PMCR- 2023/10/04 CRDT- 2023/10/13 04:05 PHST- 2023/07/10 00:00 [received] PHST- 2023/09/02 00:00 [revised] PHST- 2023/09/08 00:00 [accepted] PHST- 2023/11/01 12:44 [medline] PHST- 2023/10/13 06:46 [pubmed] PHST- 2023/10/13 04:05 [entrez] PHST- 2023/10/04 00:00 [pmc-release] AID - 10.1155/2023/6661858 [doi] PST - epublish SO - J Obes. 2023 Oct 4;2023:6661858. doi: 10.1155/2023/6661858. eCollection 2023.