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Background <p>Cytotoxic T-Lymphocyte-Associated Protein 4 (CTLA-4) gene plays a vital role in immune system regulation and therefore, are potential candidates involved in Type 2 diabetes mellitus (T2DM) etiology.&#xa0;</p> Objective <p>The aim of study is to understand the role of CTLA-4 C318T Single&#xa0;Nucleotide Polymorphism (SNP) in T2DM patients of Kashmir Valley.&#xa0;&#xa0;</p> Methods <p>Genotyping of all the study subjects was done using Polymerase Chain Reaction–Restriction Fragment Length Polymorphism (PCR–RFLP). Anthropometric assessment was performed for all study subjects. Blood/serum samples of all study subjects were analyzed spectrophotometrically for biochemical parameters.</p> Results <p>The variant genotype (CT + TT) was more prevalent in cases (128 out of 528; 24.2%) compared to controls (48 out of 584; 8.3%), a statistically significant difference (Odds Ratio (OR) = 3.5; &#xa0; <i>p</i>&#xa0;&lt; 0.0001). This finding suggests that the presence of the variant genotype may increase susceptibility to T2DM. Stratification analysis revealed that the frequency of variant genotype (CT + TT) is significantly higher in older T2DM patients compared to controls of same age group (<i>p</i> &lt; 0.0001). Presence of variant genotype was found to be significantly associated with Body Mass Index (BMI); Hypertension and Thyroid Stimulating Hormone (TSH) levels (&#xa0;<i>p</i> &lt; 0.0001).</p> Conclusion <p>The study demonstrates a strong association between CTLA4 gene polymorphism and the development of T2DM in the ethnic population of Kashmir, suggesting that genetic susceptibility contributes to the disease's pathogenesis.</p>

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Putative role of CTLA-4 C318T SNP in type 2 diabetes mellitus—A case control study

  • 期刊论文

  • 发表日期：

    2025年12月2日

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  • Roohi Ashraf,
  • Mohammad Hayat Bhat,
  • Sabir Ahmad Khan,
  • Haadiyah Muzaffar,
  • Haamid Bashir,
  • Suhail Shafi Lone,
  • Mosin Saleem Khan

摘要

Background

Cytotoxic T-Lymphocyte-Associated Protein 4 (CTLA-4) gene plays a vital role in immune system regulation and therefore, are potential candidates involved in Type 2 diabetes mellitus (T2DM) etiology. 

Objective

The aim of study is to understand the role of CTLA-4 C318T Single Nucleotide Polymorphism (SNP) in T2DM patients of Kashmir Valley.  

Methods

Genotyping of all the study subjects was done using Polymerase Chain Reaction–Restriction Fragment Length Polymorphism (PCR–RFLP). Anthropometric assessment was performed for all study subjects. Blood/serum samples of all study subjects were analyzed spectrophotometrically for biochemical parameters.

Results

The variant genotype (CT + TT) was more prevalent in cases (128 out of 528; 24.2%) compared to controls (48 out of 584; 8.3%), a statistically significant difference (Odds Ratio (OR) = 3.5;   p < 0.0001). This finding suggests that the presence of the variant genotype may increase susceptibility to T2DM. Stratification analysis revealed that the frequency of variant genotype (CT + TT) is significantly higher in older T2DM patients compared to controls of same age group (p < 0.0001). Presence of variant genotype was found to be significantly associated with Body Mass Index (BMI); Hypertension and Thyroid Stimulating Hormone (TSH) levels ( p < 0.0001).

Conclusion

The study demonstrates a strong association between CTLA4 gene polymorphism and the development of T2DM in the ethnic population of Kashmir, suggesting that genetic susceptibility contributes to the disease's pathogenesis.