Association of Calpain-10 gene polymorphisms with Type 2 diabetes mellitus: a case-control study from a tertiary care hospital in Pakistan
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 gl...
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BMC
2025-05-01
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| Series: | BMC Medical Genomics |
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| Online Access: | https://doi.org/10.1186/s12920-025-02152-1 |
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| author | Humaira Farooqi Nakhshab Choudhry Muhammad Nabeel Saddique Samina Qamar Rehma Dar Salman Kazmi Aamir Jamal Gondal Nighat Yasmin Hammad Javaid Ursula Abu Nahla |
| author_facet | Humaira Farooqi Nakhshab Choudhry Muhammad Nabeel Saddique Samina Qamar Rehma Dar Salman Kazmi Aamir Jamal Gondal Nighat Yasmin Hammad Javaid Ursula Abu Nahla |
| author_sort | Humaira Farooqi |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-1a2125a33e164a8fa4dde0b23aa95e23 |
| institution | OA Journals |
| issn | 1755-8794 |
| language | English |
| publishDate | 2025-05-01 |
| publisher | BMC |
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| series | BMC Medical Genomics |
| spelling | doaj-art-1a2125a33e164a8fa4dde0b23aa95e232025-08-20T02:34:04ZengBMCBMC Medical Genomics1755-87942025-05-011811910.1186/s12920-025-02152-1Association of Calpain-10 gene polymorphisms with Type 2 diabetes mellitus: a case-control study from a tertiary care hospital in PakistanHumaira Farooqi0Nakhshab Choudhry1Muhammad Nabeel Saddique2Samina Qamar3Rehma Dar4Salman Kazmi5Aamir Jamal Gondal6Nighat Yasmin7Hammad Javaid8Ursula Abu Nahla9Department of Pathology, King Edward Medical UniversityDepartment of Biochemistry, King Edward Medical UniversityDepartment of Pathology, King Edward Medical UniversityDepartment of Pathology, King Edward Medical UniversityDepartment of Pathology, Services Institute of Medical SciencesInternal Medicine, King Edward Medical UniversityAdvance Research Center for Biomedical Sciences, King Edward Medical UniversityAdvance Research Center for Biomedical Sciences, King Edward Medical UniversityDepartment of Pathology, King Edward Medical UniversityFaculty of Medicine, P.O. Box 40, Hebron UniversityAbstract 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.https://doi.org/10.1186/s12920-025-02152-1Type 2 diabetes mellitusCAPN-10 gene polymorphismsSingle nucleotide polymorphisms (SNPs)Genetic susceptibilityPakistani population |
| spellingShingle | Humaira Farooqi Nakhshab Choudhry Muhammad Nabeel Saddique Samina Qamar Rehma Dar Salman Kazmi Aamir Jamal Gondal Nighat Yasmin Hammad Javaid Ursula Abu Nahla Association of Calpain-10 gene polymorphisms with Type 2 diabetes mellitus: a case-control study from a tertiary care hospital in Pakistan BMC Medical Genomics Type 2 diabetes mellitus CAPN-10 gene polymorphisms Single nucleotide polymorphisms (SNPs) Genetic susceptibility Pakistani population |
| title | Association of Calpain-10 gene polymorphisms with Type 2 diabetes mellitus: a case-control study from a tertiary care hospital in Pakistan |
| title_full | Association of Calpain-10 gene polymorphisms with Type 2 diabetes mellitus: a case-control study from a tertiary care hospital in Pakistan |
| title_fullStr | Association of Calpain-10 gene polymorphisms with Type 2 diabetes mellitus: a case-control study from a tertiary care hospital in Pakistan |
| title_full_unstemmed | Association of Calpain-10 gene polymorphisms with Type 2 diabetes mellitus: a case-control study from a tertiary care hospital in Pakistan |
| title_short | Association of Calpain-10 gene polymorphisms with Type 2 diabetes mellitus: a case-control study from a tertiary care hospital in Pakistan |
| title_sort | association of calpain 10 gene polymorphisms with type 2 diabetes mellitus a case control study from a tertiary care hospital in pakistan |
| topic | Type 2 diabetes mellitus CAPN-10 gene polymorphisms Single nucleotide polymorphisms (SNPs) Genetic susceptibility Pakistani population |
| url | https://doi.org/10.1186/s12920-025-02152-1 |
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