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线粒体 DNA 单倍群 H 是西班牙人群特发性扩张型心肌病的危险因素。

Mitochondrial DNA haplogroup H as a risk factor for idiopathic dilated cardiomyopathy in Spanish population.

机构信息

Cardiac Biomarkers Group, Research Unit, INIBIC-Complejo Hospitalario Universitario A Coruña, A Coruña, Spain.

出版信息

Mitochondrion. 2013 Jul;13(4):263-8. doi: 10.1016/j.mito.2013.03.005. Epub 2013 Mar 23.

DOI:10.1016/j.mito.2013.03.005
PMID:23528301
Abstract

Idiopathic dilated cardiomyopathy (IDC) is a structural heart disease with strong genetic background. The different single nucleotide polymorphisms (SNPs) that constitute mitochondrial haplogroups could play an important role in IDC progression. The aim of this study was to test frequencies of mitochondrial haplogroups in healthy controls (n=422) and IDC patients (n=304) of a Caucasian Spanish population. To achieve this, ten major European haplogroups were identified. Frequencies and Odds Ratios for the association between IDC and haplogroups were calculated in both groups. We found that compared to healthy controls, the prevalence of haplogroup H was significantly higher in IDC patients (40.0% vs 50.7%, p-value=0.040).

摘要

特发性扩张型心肌病 (IDC) 是一种具有强烈遗传背景的结构性心脏病。构成线粒体单倍群的不同单核苷酸多态性 (SNP) 可能在 IDC 进展中发挥重要作用。本研究的目的是检测欧洲裔西班牙人群中健康对照组 (n=422) 和 IDC 患者 (n=304) 中线粒体单倍群的频率。为此,确定了十个主要的欧洲单倍群。在两组中计算了 IDC 与单倍群之间的关联的频率和优势比。我们发现,与健康对照组相比,IDC 患者中 haplogroup H 的患病率明显更高 (40.0% vs 50.7%,p 值=0.040)。

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