Calpain-5 gene variants are associated with diastolic blood pressure and cholesterol levels
Calpain-5 gene variants are associated with diastolic blood pressure and cholesterol levels
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DOI：
10.1186/1471-2350-8-1
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发表时间：
2007-01-16
影响因子：
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通讯作者：
Serrano-Rios, Manuel
中科院分区：
文献类型：
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作者：
Saez, Maria E.;Martinez-Larrad, Maria T.;Serrano-Rios, Manuel
背景：与肥胖、2型糖尿病（T2DM）或心血管疾病等常见复杂疾病相关的基因不是疾病特异性的，因为临床相关疾病也共享遗传成分。半胱氨酸蛋白酶钙蛋白酶10 （CAPN10）与T2DM、高血压、高胆固醇血症、体重指数（BMI）升高和多囊卵巢综合征（PCOS）有关，多囊卵巢综合征是一种女性生殖疾病，isunlin抵抗似乎在其中起致病作用。calpain 5基因（CAPN5）编码一种与CAPN10同源的蛋白。我们的研究小组先前已将CAPN5与PCOS联系起来。在这项新研究中，我们分析了四个CAPN5基因变异（rs948976A > G、rs4945140G > A、rs2233546 > T和rs2233549G > A）与普通人群代谢综合征相关的几种心血管危险因素的关系。方法：在西班牙中部的塞戈维亚省（Castille）进行一项基于横断面人群的流行病学调查，随机选择606名受试者进行人体测量、血压、胰岛素、葡萄糖和脂质分析，调查与肥胖和代谢综合征其他组成部分相关的人体测量和生理参数的流行情况。采用聚合酶链反应（PCR）检测了CAPN5基因4个多态性位点的基因型。结果：基因型关联分析对BMI有显著意义(p
Background: Genes implicated in common complex disorders such as obesity, type 2 diabetes mellitus ( T2DM) or cardiovascular diseases are not disease specific, since clinically related disorders also share genetic components. Cysteine protease Calpain 10 ( CAPN10) has been associated with T2DM, hypertension, hypercholesterolemia, increased body mass index ( BMI) and polycystic ovary syndrome ( PCOS), a reproductive disorder of women in which isunlin resistance seems to play a pathogenic role. The calpain 5 gene ( CAPN5) encodes a protein homologue of CAPN10. CAPN5 has been previously associated with PCOS by our group. In this new study, we have analysed the association of four CAPN5 gene variants( rs948976A > G, rs4945140G > A, rs2233546 > T and rs2233549G > A) with several cardiovascular risk factors related to metabolic syndrome in general population.Methods: Anthropometric measurements, blood pressure, insulin, glucose and lipid profiles were determined in 606 individuals randomly chosen from a cross-sectional population-based epidemiological survey in the province of Segovia in Central Spain ( Castille), recruited to investigate the prevalence of anthropometric and physiological parameters related to obesity and other components of the metabolic syndrome. Genotypes at the four polymorphic loci in CAPN5 gene were detected by polymerase chain reaction ( PCR).Results: Genotype association analysis was significant for BMI ( p