δ-肌聚糖基因多态性作为肥厚型心肌病的一个风险因素。
A delta-sarcoglycan gene polymorphism as a risk factor for hypertrophic cardiomyopathy.
作者信息
Ordoñez-Razo Rosa M, Garrido-Garduño Martín H, Pérez-Martínez Ramón A, Ruiz Victor M, Herrera-Tepatlán Esteban, Rodríguez-Cruz Maricela, Jiménez-Vaca Ana L, Minauro-Sanmiguel Fernando, Salamanca-Gómez Fabio A
机构信息
Unidad de Investigación Médica en Genética Humana, Hospital de Pediatría, Centro Médico Nacional Siglo XXI, Instituto Mexicano del Seguro Social, Mexico City, Mexico.
出版信息
Genet Test Mol Biomarkers. 2012 Aug;16(8):855-8. doi: 10.1089/gtmb.2011.0343. Epub 2012 Apr 23.
BACKGROUND
The C allele of c.-94C>G polymorphism of the delta-sarcoglycan gene was associated as a risk factor for coronary spasm in Japanese patients with hypertrophic cardiomyopathy (HCM).
AIM
We evaluated whether the c.-94C>G polymorphism can be a risk factor for HCM in Mexican patients.
METHODS
The polymorphism was genotyped and the risk was estimated in 35 HCM patients and 145 healthy unrelated individuals. Data of this polymorphism reported in Mexican Amerindian populations were included.
RESULTS
The C allele frequency in HCM patients was higher with an odds ratio (OR) of 2.37, and the risk for the CC genotype increased to 5.0. The analysis with Mexican Amerindian populations showed that the C allele frequency was significantly higher in HCM patients with an OR of 2.96 and for CC genotype the risk increased to 7.60.
CONCLUSIONS
The C allele of the c.-94C>G polymorphism is a risk factor for HCM, which is increased by the Amerindian component and can play an important role in the etiology and progression of disease in Mexican patients.
背景
在日本肥厚型心肌病（HCM）患者中，δ-肌聚糖基因c.-94C>G多态性的C等位基因与冠状动脉痉挛的危险因素相关。
目的
我们评估了c.-94C>G多态性是否为墨西哥HCM患者的危险因素。
方法
对35例HCM患者和145名健康无关个体进行该多态性基因分型并评估风险。纳入了墨西哥美洲印第安人群中报道的该多态性数据。
结果
HCM患者中C等位基因频率较高，优势比（OR）为2.37，CC基因型的风险增加至5.0。对墨西哥美洲印第安人群的分析显示，HCM患者中C等位基因频率显著更高，OR为2.96，CC基因型的风险增加至7.60。
结论
c.-94C>G多态性的C等位基因是HCM的危险因素，美洲印第安人成分会使其增加，并且在墨西哥患者疾病的病因和进展中可能起重要作用。
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