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Association of Calpain-10 gene polymorphisms with Type 2 diabetes mellitus: a case-control study from a tertiary care hospital in Pakistan.

Humaira Farooqi·Nakhshab Choudhry·Muhammad Nabeel Saddique·Samina Qamar·Rehma Dar·Salman Kazmi·Aamir Jamal Gondal·Nighat Yasmin·Hammad Javaid·Ursula Abu Nahla
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Abstract

INTRODUCTION: Type 2 diabetes mellitus (T2DM) is a major public health challenge, with rising prevalence in low- and middle-income countries such as Pakistan. Genetic susceptibility plays a critical role in its pathogenesis. Calpain-10 (CAPN-10), a gene implicated in insulin secretion and glucose homeostasis, has been studied for its potential involvement in T2DM. This study aimed to evaluate the association of CAPN-10 polymorphisms-SNP44 (rs2975760) and SNP43 (rs3792267)-with T2DM in a Pakistani cohort. METHODS: This case-control study included 164 T2DM patients and 164 healthy controls (mean age&#x2009;&#xb1;&#x2009;SD: 57.2&#x2009;&#xb1;&#x2009;8.2 vs. 53.9&#x2009;&#xb1;&#x2009;6.3 years; age range: 41-82 years). The male-to-female ratio was 41.4-58.6% in cases and 37.2-62.8% in controls. Participants were enrolled using non-probability convenience sampling. Genomic DNA was extracted from whole blood, and genotyping of CAPN-10 SNPs (rs3792267 and rs2975760) was performed using PCR-RFLP. Genotype distributions were assessed for Hardy-Weinberg equilibrium. Associations with T2DM were evaluated using odds ratios (ORs) and 95% confidence intervals (CIs) via logistic regression. Chi-square tests were used for categorical comparisons, with p&#x2009;<&#x2009;0.05 considered statistically significant. Analyses were conducted using SPSS version 26. RESULTS: For SNP44, no significant association with T2DM was observed under dominant, heterozygous, or recessive models after Bonferroni correction (adjusted p&#x2009;>&#x2009;0.05). Similarly, SNP43 showed no statistically significant association with T2DM in either dominant or recessive models (adjusted p&#x2009;>&#x2009;0.05), although the AA genotype appeared more frequently among T2DM cases. These findings suggest no significant role of CAPN-10 polymorphisms in T2DM susceptibility in this population. CONCLUSION: CAPN-10 polymorphisms SNP44 and SNP43 showed no significant association with T2DM in this population, suggesting limited predictive value for disease susceptibility.

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HumansDiabetes Mellitus, Type 2CalpainMaleFemaleMiddle AgedPolymorphism, Single NucleotideCase-Control StudiesPakistanAgedAdultGenetic Predisposition to DiseaseTertiary Care CentersAged, 80 and overGenetic Association StudiesGene FrequencyCAPN-10 gene polymorphismsGenetic susceptibilityPakistani populationSingle nucleotide polymorphisms (SNPs)Type 2 diabetes mellitusJournal ArticleResearch Support, Non-U.S. Gov't

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Humaira Farooqi, Nakhshab Choudhry, Muhammad Nabeel Saddique, Samina Qamar, Rehma Dar, Salman Kazmi, Aamir Jamal Gondal, Nighat Yasmin, Hammad Javaid, Ursula Abu Nahla. 2025-05-19. Association of Calpain-10 gene polymorphisms with Type 2 diabetes mellitus: a case-control study from a tertiary care hospital in Pakistan.. https://doi.org/10.1186/s12920-025-02152-1

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