周围动脉疾病的遗传学研究进展  

Advances in research on the genetics of peripheral arterial disease

作　　者：尹黎[1] 韩琦[3] 李雪阳[2] 刘震杰[2] 

机构地区：[1]浙江大学医学院附属第二医院肿瘤研究所,杭州310009 [2]浙江大学医学院附属第二医院血管外科,杭州310009 [3]威斯康辛大学医学中心血管外科研究所

出　　处：《中华医学遗传学杂志》2015年第6期890-893,共4页Chinese Journal of Medical Genetics

摘　　要：周围动脉疾病（peripheral arterialdisease，PAD）是一种发病率和死亡率均逐年升高的疾病，其临床表现为间歇性跛行、皮肤溃疡、患肢静息痛等，严重影响着人们的生活质量，同时PAD导致的缺血性脑卒中甚至可危及生命。然而PAD往往不能得到有效的诊治，其发病机制也尚不明确。近年来，随着基因技术的发展，多学科手段的联合，研究者对PAD的诊断和治疗有了新的认识和进展。本文我们就PAD的遗传学研究现状和进展做一综述，总结应用候选基因调查、连锁分析、全基因组关联研究等手段在PAD遗传学上所取得的结果，以及表观遗传学、线粒体DNA分析等新技术在PAD诊疗中的应用和发展前景。Peripheral arterial disease （PAD） shows increasing morbidity and mortality. Clinical manifestations of PAD, such as intermittent elaudica6on, rest pain and nonhealing ulcer, contribute to impaired quality of life, and ischemic stroke caused by PAD can be life-threatening. Unfortunately, PAD patients often receive suboptimal treatment, and pathogenesis of the disease is still unclear. Over the past decade, the evolving technology and interdisciplinary collaboration have enabled improvement of diagnosis and treatment for PAD. This review makes a brief summary of the current status and progress in genetics research on PAD, which included candidate gene studies, linkage analyses, genome-wide association studies, and applications and development prospects of epigenetics, mitochondrial DNA and other new technologies.

关 键 词：周围动脉疾病 遗传学 基因 

分 类 号：R587.1[医药卫生—内分泌]