Loya Méndez Yolanda, Reyes Leal Gilberto, Sánchez González Adriana, Portillo Reyes Verónica, Reyes Ruvalcaba David, Bojórquez Rangel Guillermo
Laboratorio de Genética aplicada del Instituto de Ciencias Biomédicas de la Universidad Autónoma de Ciudad Juárez. México..
Nutr Hosp. 2014 Sep 28;31(2):744-50. doi: 10.3305/nh.2015.31.2.7729.
Diabetes Mellitus (DM) type 2 is a common pathology with multifactorial etiology, which exact genetic bases remain unknown. Some studies suggest that single nucleotides polymorphisms (SNPs) in the CAPN10 gene (Locus 2q37.3) could be associated with the development of this disease, including the insertion/deletion polymorphism SNP-19 (2R→3R).
The present study determined the association between the SNP-19 and the risk of developing DM type 2 in Ciudad Juarez population.
For this study 107 participants were selected: 43 diabetics type 2 (cases) and 64 non diabetics with no family history of DM type 2 in first grade (control). Anthropometric studies were realized as well as lipids, lipoproteins and serum glucose biochemical profiles. The genotypification of SNP-19 was performed using peripheral blood lymphocytes DNA, polymerase chain reactions (PCR), and electrophoretic analysis in agarose gels. Once obtained the genotypic and allelic frequencies, the Hardy-Weinberg equilibrium test (GenAlEx 6.4) was also performed.
Using the X² analysis it was identified the genotypic differences between cases and control with higher frequency of the homozygous genotype 3R of SNP- 19 in the cases group (0.418) compared to control group (0.265). Also, it was observed an association between genotype 2R/3R with elevated weight, body mass index, and waist and hip circumferences, but only in the diabetic group (P=< 0.05).
The findings in this study suggest that SNP-19 in CAPN10 may participate in the development of DM type 2 in the studied population.
2型糖尿病（DM）是一种病因多因素的常见病症，其确切的遗传基础尚不清楚。一些研究表明，钙蛋白酶10基因（基因座2q37.3）中的单核苷酸多态性（SNP）可能与该疾病的发生有关，包括插入/缺失多态性SNP-19（2R→3R）。
本研究确定了SNP-19与华雷斯城人群患2型糖尿病风险之间的关联。
本研究选取了107名参与者：43名2型糖尿病患者（病例组）和64名一级亲属中无2型糖尿病家族史的非糖尿病患者（对照组）。进行了人体测量学研究以及血脂、脂蛋白和血清葡萄糖生化指标检测。使用外周血淋巴细胞DNA、聚合酶链反应（PCR）和琼脂糖凝胶电泳分析对SNP-19进行基因分型。获得基因型和等位基因频率后，还进行了哈迪-温伯格平衡检验（GenAlEx 6.4）。
通过X²分析确定了病例组和对照组之间的基因型差异，病例组中SNP-19纯合基因型3R的频率（0.418）高于对照组（0.265）。此外，观察到基因型2R/3R与体重、体重指数以及腰围和臀围升高之间存在关联，但仅在糖尿病组中（P<0.05）。
本研究结果表明，CAPN10中的SNP-19可能参与了所研究人群中2型糖尿病的发生。
