Metabolic dysregulation leading to diabetes is a major public health concern in India. While evidence has pointed to a role for genetic factors, there is still limited knowledge regarding the specific variants that play a part in this process. Recent studies have implicated Tumor protein, p53, a well-known tumor suppressor, in maintaining metabolic homeostasis in our body. Polymorphisms that can disrupt this function are thought to increase susceptibility to diabetic and prediabetic phenotypes like Metabolic syndrome (MetS). A common polymorphism at codon 72 (rs1042522) is associated with obesity and other metabolic disorders. However, its role may vary depending on the specific population and disease context. Our study aimed to evaluate whether the polymorphism at codon 72 of p53 (rs1042522) is associated with MetS and Diabetes, in a Central Indian population. A total of 66 individuals and 63 healthy controls, identified based on the National Cholesterol Education Program (NCEP)/Adult Treatment Panel-III (ATP-III) 2001 guidelines, were enrolled in the study. The carriers expressing mutant allele “G” for arginine at codon 72 had higher weight than those having wild-type allele “C” which codes for proline (p = 0.038). The majority of the subjects were heterozygous for p53 codon 72 polymorphism though the association was not statistically significant for either MetS or diabetes. Our findings suggest that p53 codon 72 (rs1042522) varaints may trigger metabolic dysfunction by impacting weight. The polymorphism appears to confer a heterozygous advantage, as individuals with a heterozygous genotype exhibited the highest susceptibility to metabolic disease. Although further studies are required, our results for the first time indicate that the p53 codon 72 (rs1042522) polymorphism could be considered a genetic marker to predict the increased susceptibility to diabetic and prediabetic phenotypes among Central Indian population.

中文翻译：

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p53 密码子 72 多态性与印度中部人群体重和代谢疾病的关联

导致糖尿病的代谢失调是印度的一个主要公共卫生问题。尽管有证据表明遗传因素发挥了作用，但对于在此过程中发挥作用的特定变异的了解仍然有限。最近的研究表明肿瘤蛋白 p53（一种众所周知的肿瘤抑制因子）与维持我们体内的代谢稳态有关。可以破坏这一功能的多态性被认为会增加对糖尿病和糖尿病前期表型（如代谢综合征（MetS））的易感性。密码子 72 (rs1042522) 的常见多态性与肥胖和其他代谢紊乱有关。然而，其作用可能因特定人群和疾病背景而异。我们的研究旨在评估印度中部人群中 p53 密码子 72 (rs1042522) 的多态性是否与 MetS 和糖尿病相关。根据国家胆固醇教育计划 (NCEP)/成人治疗小组 III (ATP-III) 2001 指南确定的总共 66 名个体和 63 名健康对照者参加了这项研究。在密码子 72 处表达精氨酸突变等位基因“G”的携带者比具有编码脯氨酸的野生型等位基因“C”的携带者具有更高的重量（p = 0.038）。大多数受试者的 p53 密码子 72 多态性是杂合的，尽管这种关联对于 MetS 或糖尿病都没有统计学意义。我们的研究结果表明，p53 密码子 72 (rs1042522) 变异可能通过影响体重而引发代谢功能障碍。多态性似乎赋予杂合优势，因为具有杂合基因型的个体对代谢疾病表现出最高的易感性。尽管还需要进一步研究，但我们的结果首次表明，p53 密码子 72 (rs1042522) 多态性可以被视为一种遗传标记，可以预测印度中部人群对糖尿病和糖尿病前期表型的易感性增加。