del Bosque-Plata Laura, Aguilar-Salinas Carlos A, Tusié-Luna María Teresa, Ramírez-Jiménez Salvador, Rodríguez-Torres Maribel, Aurón-Gómez Moisés, Ramírez Erika, Velasco-Pérez María Luisa, Ramírez-Silva Alfredo, Gómez-Pérez Francisco, Hanis Craig L, Tsuchiya Takafumi, Yoshiuchi Issei, Cox Nancy J, Bell Graeme I
Department of Biochemistry, Medicine and Human Genetics, The University of Chicago, 5841 S. Maryland Ave., MC1028, Chicago, IL 60637, USA.
Mol Genet Metab. 2004 Feb;81(2):122-6. doi: 10.1016/j.ymgme.2003.10.005.
Variation in the calpain-10 gene (CAPN10) has been associated with risk of type 2 diabetes in the Mexican American population of Starr County, Texas. We typed five polymorphisms in the calpain-10 gene (SNP-43, -43, -63, and -110 and Indel-19) to test for association with type 2 diabetes in 248 individuals representative of the mestizo population of Mexico City and Orizaba, Mexico including 134 patients with type 2 diabetes and 114 subjects with normal fasting blood glucose levels. We found a significant difference in SNP-44 allele and genotype frequencies between type 2 diabetic and non-diabetic subjects. The rare allele at SNP-44 was associated with increased risk of type 2 diabetes (odds ratio (OR)=2.72, 95% confidence interval (CI)=1.16-6.35, P=0.017). SNP-110, which is in perfect linkage disequilibrium with SNP-44, was also associated with type 2 diabetes. The SNP-43, Indel-19, and SNP-63 haplogenotype 112/121 associated with significantly increased risk (OR=2.16, 95% CI=1.31-3.57) of type 2 diabetes in Mexican Americans was not associated with significantly increased in risk in Mexicans (OR=1.15, 95% CI=0.57-2.34). The results suggest that variation in CAPN10 affects risk of type 2 diabetes in the mestizo population of central Mexico (Mexico City and Orizaba) and in Mexican Americans (Starr County, Texas).
钙蛋白酶-10基因（CAPN10）的变异与得克萨斯州斯塔尔县墨西哥裔美国人患2型糖尿病的风险相关。我们对钙蛋白酶-10基因中的五个多态性位点（SNP-43、-43、-63、-110和Indel-19）进行分型，以检测其与2型糖尿病的关联性，研究对象为248名代表墨西哥城和墨西哥奥里萨巴混血人群的个体，其中包括134名2型糖尿病患者和114名空腹血糖水平正常的受试者。我们发现2型糖尿病患者与非糖尿病受试者之间的SNP-44等位基因和基因型频率存在显著差异。SNP-44处的罕见等位基因与2型糖尿病风险增加相关（优势比（OR）=2.72，95%置信区间（CI）=1.16 - 6.35，P = 0.017）。与SNP-44处于完全连锁不平衡状态的SNP-110也与2型糖尿病相关。在墨西哥裔美国人中与2型糖尿病风险显著增加相关（OR = 2.16，95% CI = 1.31 - 3.57）的SNP-43、Indel-19和SNP-63单倍型112/121在墨西哥人中与风险显著增加无关（OR = 1.15，95% CI = 0.57 - 2.34）。结果表明，CAPN10基因的变异影响墨西哥中部（墨西哥城和奥里萨巴）混血人群以及墨西哥裔美国人（得克萨斯州斯塔尔县）患2型糖尿病的风险。
