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TP53 codon 72 polymorphism and type 2 diabetes: a case-control study in South Indian population
Harshitha K Punja1, Dechamma Pandyanda Nanjappa2, Nishith Babu2
1Department of General Medicine, KS Hegde Medical Academy, Nitte (Deemed to be University), Mangaluru, 575018, India.
Abstract:
TP53 functions primarily as a tumor suppressor, controlling a myriad of signalling pathways that prevent a cell from undergoing malignant transformation. This tumor suppressive function requires an activation and stabilization of TP53 in response to cell stressors. However, besides its cancer-preventive functions, TP53 is also known to be involved in diverse cellular processes including metabolism, reproduction, stem cell renewal and development. Indeed, several lines of evidence strongly suggest that TP53 plays crucial role in diabetes. A number of studies have evaluated the association of genetic alterations (single nucleotide variations) in TP53 gene with the development of diabetes. However, the results have not been consistent. The aim of this study was to evaluate whether the C/G polymorphism at codon 72 (Pro72/Arg72), located in exon 4 of TP53, is associated with type 2 diabetes in South Indian population. A total of 74 type 2 diabetic patients and 54 non-diabetic subjects were screened. None of the three genotypes, namely C/C (Pro/Pro), C/G (Pro/Arg), and G/G (Arg/Arg) was found to be significantly associated with type 2 diabetes in our study group. The findings of this study indicate that TP53 codon 72 polymorphism is not associated with increased risk of type 2 diabetes in South Indian population. Further studies with a large cohort size would be necessary to corroborate the observations of this study. Nevertheless, this study represents the first genetic analysis of TP53 variants in South Indian type 2 diabetic patients.
Insights
The TP53 tumor suppressor gene plays a role in cell health. This study found no link between the TP53 codon 72 polymorphism and type 2 diabetes risk in South Indians.
Area of Science:
- Genetics
- Molecular Biology
- Endocrinology
Background:
- The TP53 gene is a crucial tumor suppressor involved in various cellular processes, including metabolism.
- Evidence suggests TP53's involvement in diabetes, but genetic associations remain inconsistent.
- The TP53 codon 72 Pro72/Arg72 polymorphism is one such variant investigated for its role in disease.
Purpose of the Study:
- To investigate the association between the TP53 codon 72 (Pro72/Arg72) polymorphism and type 2 diabetes (T2D) risk.
- To analyze the prevalence of TP53 genotypes in a South Indian population with and without T2D.
- To contribute to understanding the genetic underpinnings of T2D in diverse ethnic groups.
Main Methods:
- Genotyping of the TP53 codon 72 C/G polymorphism (Pro72/Arg72) using DNA from 74 T2D patients and 54 non-diabetic controls.
- Analysis of genotype frequencies (C/C, C/G, G/G) between the case and control groups.
- Statistical evaluation to determine significant associations between genotypes and T2D risk.
Main Results:
- No significant association was found between any of the TP53 codon 72 genotypes (Pro/Pro, Pro/Arg, Arg/Arg) and type 2 diabetes.
- The distribution of C/C, C/G, and G/G genotypes did not differ significantly between diabetic patients and controls.
- This study is the first to examine TP53 variants in relation to T2D in the South Indian population.
Conclusions:
- The TP53 codon 72 polymorphism is not associated with an increased risk of type 2 diabetes in the studied South Indian population.
- Further research with larger cohorts is needed to confirm these findings.
- Genetic variations in TP53 may not be a significant risk factor for T2D in this specific demographic.
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