Farooqi Humaira, Choudhry Nakhshab, Saddique Muhammad Nabeel, Qamar Samina, Dar Rehma, Kazmi Salman, Gondal Aamir Jamal, Yasmin Nighat, Javaid Hammad, Nahla Ursula Abu
Department of Pathology, King Edward Medical University, Lahore, 54000, Pakistan.
Department of Biochemistry, King Edward Medical University, Lahore, 54000, Pakistan.
BMC Med Genomics. 2025 May 19;18(1):89. doi: 10.1186/s12920-025-02152-1.
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.
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.
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.
CAPN-10 polymorphisms SNP44 and SNP43 showed no significant association with T2DM in this population, suggesting limited predictive value for disease susceptibility.
2型糖尿病（T2DM）是一项重大的公共卫生挑战，在巴基斯坦等低收入和中等收入国家的患病率不断上升。遗传易感性在其发病机制中起着关键作用。钙蛋白酶-10（CAPN-10）是一种与胰岛素分泌和葡萄糖稳态有关的基因，已对其在T2DM中的潜在作用进行了研究。本研究旨在评估巴基斯坦人群中CAPN-10基因多态性-SNP44（rs2975760）和SNP43（rs3792267）与T2DM的关联。
本病例对照研究纳入了164例T2DM患者和164名健康对照者（平均年龄±标准差：57.2±8.2岁 vs. 53.9±6.3岁；年龄范围：41-82岁）。病例组男女比例为41.4-58.6%，对照组为37.2-62.8%。采用非概率方便抽样招募参与者。从全血中提取基因组DNA，并使用PCR-RFLP对CAPN-10单核苷酸多态性（rs3792267和rs2975760）进行基因分型。评估基因型分布是否符合哈迪-温伯格平衡。通过逻辑回归使用比值比（OR）和95%置信区间（CI）评估与T2DM的关联。卡方检验用于分类比较，p<0.05被认为具有统计学意义。使用SPSS 26版进行分析。
对于SNP44，在Bonferroni校正后的显性、杂合或隐性模型下，未观察到与T2DM的显著关联（校正p>0.05）。同样，SNP43在显性或隐性模型中均未显示与T2DM有统计学意义的关联（校正p>0.05），尽管AA基因型在T2DM病例中出现的频率更高。这些发现表明，CAPN-10基因多态性在该人群的T2DM易感性中没有显著作用。
在该人群中，CAPN-10基因多态性SNP44和SNP43与T2DM无显著关联，提示其对疾病易感性的预测价值有限。
