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<p>Type 2 diabetes mellitus (T2DM) is a complex metabolic disorder predisposed by both environmental and genetic factors. As a negative regulator of PI3K/AKT pathway, PTEN gene plays a critical role in regulating insulin sensitivity and glucose homeostasis. This study was carried out to investigate the association of PTEN gene polymorphisms of SNPs rs2735343; G &gt; C and rs11202592 C &gt; G with T2DM susceptibility and related metabolic phenotypes in the ethnic Kashmiri population. In this case-control study 586 T2DM patients and 602 healthy controls were recruited. In all participants Anthropometric and biochemical parameters; Blood glucose fasting, HbA1c, lipid profile, Insulin, HOMA-IR, and TSH were assessed. Polymerase chain reaction (PCR) followed by Restriction fragment length polymorphism (RFLP) were employed for genotype determination. Statistical analysis was performed using Jamovi version 2.3.28. The GC + CC genotype of PTEN rs2735343 (G &gt; C) was significantly higher in T2DM patients (78.7%) as compared to controls (54.2%), demonstrating an increased risk of diabetes (OR = 3.12 (95% CI: 2.4–4.0); <i>p</i> &lt; 0.001). Similarly, the CG + GG genotype of PTEN rs11202592 (C &gt; G) showed significantly strong association with T2DM, with a higher prevalence in cases (53.2%) when compared with controls (22.1%) (OR = 4.01 (95% CI: 3.1–5.1); <i>p</i> &lt; 0.001). These genotypes were also significantly associated with BMI, insulin resistance, dyslipidemia, thyroid dysfunction, and diabetes related symptoms; fatigue, myalgia, polyuria, and polydipsia (<i>p</i> &lt; 0.001). In conclusion, PTEN polymorphisms are significantly associated with T2DM susceptibility in the Kashmiri population, suggesting their potential as genetic biomarkers.</p>

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Potential Role of PTEN Gene Polymorphisms in Type 2 Diabetes Mellitus and Associated Metabolic Traits: A Case-Control Study

  • 期刊论文

  • 发表日期：

    2026年6月19日

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  • Suhail Shafi Lone,
  • Mohammad Hayat Bhat,
  • Mosin Saleem Khan,
  • Sabhiya Majid

摘要

Type 2 diabetes mellitus (T2DM) is a complex metabolic disorder predisposed by both environmental and genetic factors. As a negative regulator of PI3K/AKT pathway, PTEN gene plays a critical role in regulating insulin sensitivity and glucose homeostasis. This study was carried out to investigate the association of PTEN gene polymorphisms of SNPs rs2735343; G > C and rs11202592 C > G with T2DM susceptibility and related metabolic phenotypes in the ethnic Kashmiri population. In this case-control study 586 T2DM patients and 602 healthy controls were recruited. In all participants Anthropometric and biochemical parameters; Blood glucose fasting, HbA1c, lipid profile, Insulin, HOMA-IR, and TSH were assessed. Polymerase chain reaction (PCR) followed by Restriction fragment length polymorphism (RFLP) were employed for genotype determination. Statistical analysis was performed using Jamovi version 2.3.28. The GC + CC genotype of PTEN rs2735343 (G > C) was significantly higher in T2DM patients (78.7%) as compared to controls (54.2%), demonstrating an increased risk of diabetes (OR = 3.12 (95% CI: 2.4–4.0); p < 0.001). Similarly, the CG + GG genotype of PTEN rs11202592 (C > G) showed significantly strong association with T2DM, with a higher prevalence in cases (53.2%) when compared with controls (22.1%) (OR = 4.01 (95% CI: 3.1–5.1); p < 0.001). These genotypes were also significantly associated with BMI, insulin resistance, dyslipidemia, thyroid dysfunction, and diabetes related symptoms; fatigue, myalgia, polyuria, and polydipsia (p < 0.001). In conclusion, PTEN polymorphisms are significantly associated with T2DM susceptibility in the Kashmiri population, suggesting their potential as genetic biomarkers.