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. 2025 May 19;18(1):89.
doi: 10.1186/s12920-025-02152-1.

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

Humaira Farooqi  1 , Nakhshab Choudhry  2 , Muhammad Nabeel Saddique  1 , Samina Qamar  1 , Rehma Dar  3 , Salman Kazmi  4   5 , Aamir Jamal Gondal  6 , Nighat Yasmin  6 , Hammad Javaid  1 , Ursula Abu Nahla  7
Affiliations

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

Humaira Farooqi et al. BMC Med Genomics. .

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 ± SD: 57.2 ± 8.2 vs. 53.9 ± 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 < 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 > 0.05). Similarly, SNP43 showed no statistically significant association with T2DM in either dominant or recessive models (adjusted p > 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.

Keywords: CAPN-10 gene polymorphisms; Genetic susceptibility; Pakistani population; Single nucleotide polymorphisms (SNPs); Type 2 diabetes mellitus.

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Conflict of interest statement

Declarations. Ethics approval and consent to participate: This study was conducted in accordance with the ethical principles outlined in the Declaration of Helsinki. Ethical approval was obtained from the Institutional Review Board (IRB) of King Edward Medical University, Lahore (Approval No. 482/RC/KEMU). Written informed consent was obtained from all participants prior to enrollment. Participants were informed of the study’s objectives, procedures, potential risks, and their right to withdraw at any time without consequences. Consent for publication: Not applicable. Competing interests: The authors declare no competing interests. Use of generative AI and AI-assisted technologies: ChatGPT-4o (OpenAI) was used solely for improving the grammar, readability, and clarity of the manuscript. No AI tools were used for data analysis, interpretation, or generation of scientific content. All intellectual content and scientific conclusions were formulated by the authors.

Figures

Fig. 1
Fig. 1
Steps of PCR and genotyping for CAPN-10 polymorphisms. Schematic representation of the four-step process used to genotype SNP43 and SNP44: (1) DNA extraction from whole blood, (2) PCR amplification of target regions, (3) enzymatic digestion with NdeI (SNP43) and BstUI (SNP44), and (4) gel electrophoresis for genotype identification based on fragment size
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