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心肌梗死与冠状动脉疾病的遗传易感性
原文地址：
http://hmg.oxfordjournals.org/cgi/content/full/15/suppl_2/R117?maxtoshow=&HITS=&hits=&RESULTFORMAT=1&andorexacttitle=and&fulltext=heart+failure&andorexactfulltext=and&searchid=1&FIRSTINDEX=0&sortspec=date&fdate=//&resourcetype=HWCIT
原文是杂志上的文章，我翻译了Abstract和 Conclusion
Genetic susceptibility to myocardial infarction and coronary artery disease
ABSTRACT
Atherosclerotic involvement in the coronary arteries, which can result in heart attack and sudden death, is a common disease and prototypic of a complex human trait. To understand its genomic basis, eight linkage studies of sibling pairs have been performed. Although there was limited inter-study concordance of important loci, two gene variants in the leukotriene pathway (ALOX5AP and LTA4) have emerged as susceptibility factors for myocardial infarction (MI). Genome-wide association studies have also been undertaken, and the pro-inflammatory cytokine lymphotoxin- (LTA), and its key ligand galectin-2 (LGALS2) have been identified as genes implicated in predisposition for heart attack. By cueing into the genomic basis for low serum LDL cholesterol levels, much work has been done to advance the importance of the serine protease PCSK9, which modulates LDL receptor function. Lifelong lowered LDL cholesterol associated with PCSK9 point mutations in 2–3% of individuals have been shown to provide marked protection from coronary artery disease (CAD). Most of the success in this field has been with the phenotype of MI, which is considerably more restrictive than CAD. Four principal and interdependent processes—lipoprotein handling, endothelial integrity, arterial inflammation, and thrombosis—have been supported as important via the clustering of genes, thus far implicated in CAD susceptibility. Of note, connecting genes in a single pathway (leukotriene), of a protein and its ligand (LTA) or from one disease to another [age-related macular degeneration (AMD); complement factor H (CFH)], or even three disease characterized by inflammation (MHC2) have now been reported. Although the population attributable risk for any of the genes identified to date is limited, such discovery is likely to be accelerated in the future.
我的翻译：
Genetic susceptibility to myocardial infarction and coronary artery disease
标题：心肌梗死与冠状动脉疾病的遗传易感性
Abstract 摘要
Atherosclerotic involvement in the coronary arteries, which can result in heart attack and sudden death, is a common disease and prototypic of a complex human trait.
可以发展为心脏病发作甚至猝死的冠状动脉粥样硬化，是一种常见疾病，一种复杂的人类特质的原型。
To understand its genomic basis, eight linkage studies of sibling pairs have been performed .
为了解其染色体组基本成分，对8组姐妹染色体组展开了联合研究。
Although there was limited inter-study concordance of important loci, two gene variants in the leukotriene pathway (ALOX5AP and LTA4) have emerged as susceptibility factors for myocardial infarction (MI).
尽管当前正在进行的研究尚未获得统一的意见，但是，在白三烯路径中的2种基因变化（5-脂氧合酶激活蛋白基因和白三烯A4基因）已被揭示为心肌梗死的敏感因素。
Genome-wide association studies have also been undertaken , and the pro-inflammatory cytokine lymphotoxin-α(LTA) , and its key ligand galectin-2 (LGALS2) have been identified as genes implicated in predisposition for heart attack.
全基因组关联分析也已在进行中。前炎症细胞因子α-淋巴毒素基因，以及它的重要配体半乳糖凝集素-2基因（LGALS2基因）也被确认为与心脏病易感体质有牵涉的基因。
By cueing into the genomic basis for low serum LDL cholesterol levels, much work has been done to advance the importance of the serine protease PCSK9, which modulates LDL receptor function.
很多工作通过将丝氨酸蛋白酶PCSK9基因插入基因组基本成分中，从而降低血清低密度脂蛋白胆固醇水平，这大大提升了丝氨酸蛋白酶PCSK9基因对于控制低密度脂蛋白受体功能的重要性。
Lifelong lowered LDL cholesterol associated with PCSK9 point mutations in 2–3% of individuals have been shown to provide marked protection from coronary artery disease (CAD).
PCSK9基因点突变发生在2-3%的个体身上，与个体终身保持低密度脂蛋白胆固醇低水平相关联，这反映出令个体免于发生冠状动脉疾病的、且已引起人们重视的保护现象是确实存在的。
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作者:admin@医学,生命科学 2011-01-26 05:14
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