Picos-Cárdenas V J, Sáinz-González E, Miliar-García A, Romero-Zazueta A, Quintero-Osuna R, Leal-Ugarte E, Peralta-Leal V, Meza-Espinoza J P
Laboratorio de Genética Humana, Facultad de Medicina, Universidad Autónoma de Sinaloa, Culiacán, Sinaloa, México.
Laboratorio de Genética y Metabolismo, Hospital General de Culiacán, Culiacán, Sinaloa, México.
Genet Mol Res. 2015 Mar 27;14(1):2205-15. doi: 10.4238/2015.March.27.6.
The calpain-10 gene is expressed primarily in tissues important in glucose metabolism; thus, some of its polymorphisms have been associated with type 2 diabetes. In this study, we examined the association between the calpain-10 single-nucleotide polymorphism (SNP)-43, SNP-19, and SNP-63 and type 2 diabetes in Mexican mestizos. We included 211 patients and 152 non-diabetic subjects. Polymerase chain reaction was used to identify alleles. We compared allele, genotype, haplotype, and diplotype frequencies between both groups and used the chi-square test to calculate the risk. The allele frequency of SNP-43 allele 1 was 70% in controls and 72% in patients; the GG, GA, and AA genotype frequencies were 48.7, 42.8, and 8.5% in controls and 51.2, 41.7, and 7.1% in patients, respectively. For SNP- 19, the prevalence of allele 1 (2R) was 32% in controls and 39% in patients. In controls, homozygosity (2R/2R) was 10.5%, heterozygosity was 42.8%, and 3R/3R was 46.7%; in cases, these values were 13.3, 50.7, and 36.0%, respectively. For SNP-63, the frequency of allele 1 was 87% in controls and 83% in patients; genotype frequencies in controls were 75.7% (CC), 23% (CT), and 1.3% (TT), and were 69.7, 27.5, and 2.8%, respectively for the cases. Genotype distributions were consistent with Hardy-Weinberg equilibrium. No significant intergroup differences for allele, genotype, haplotype, or diplotype frequencies were observed. We found no association between these polymorphisms and diabetes. However, our sample size was small, so the role of calpain-10 risk alleles should be further examined.
钙蛋白酶-10基因主要在对葡萄糖代谢至关重要的组织中表达；因此，其一些多态性与2型糖尿病有关。在本研究中，我们检测了墨西哥混血人群中钙蛋白酶-10单核苷酸多态性（SNP）-43、SNP-19和SNP-63与2型糖尿病之间的关联。我们纳入了211例患者和152名非糖尿病受试者。采用聚合酶链反应来鉴定等位基因。我们比较了两组之间的等位基因、基因型、单倍型和双倍型频率，并使用卡方检验来计算风险。SNP-43等位基因1在对照组中的频率为70%，在患者中为72%；GG、GA和AA基因型频率在对照组中分别为48.7%、42.8%和8.5%，在患者中分别为51.2%、41.7%和7.1%。对于SNP-19，等位基因1（2R）在对照组中的患病率为32%，在患者中为39%。在对照组中，纯合子（2R/2R）为10.5%，杂合子为42.8%，3R/3R为46.7%；在病例组中，这些值分别为13.3%、50.7%和36.0%。对于SNP-63，等位基因1在对照组中的频率为87%，在患者中为83%；对照组中的基因型频率为75.7%（CC）、23%（CT）和1.3%（TT），病例组中的基因型频率分别为69.7%、27.5%和2.8%。基因型分布符合哈迪-温伯格平衡。未观察到等位基因、基因型、单倍型或双倍型频率在组间存在显著差异。我们发现这些多态性与糖尿病之间无关联。然而，我们的样本量较小，因此钙蛋白酶-10风险等位基因的作用应进一步研究。
