标题：缺血性脑卒中的遗传风险因素

      作者：农秋萍 1，廖小平 2，李其富 2，林蓉 1    (1.海南医学院生物学教研室，海南 海口 571199；2.海南医学院第一附属医院神经内科，海南 海口 570102)

      卷次： 2018年29卷17期

      【摘要】 脑卒中全球负担高，是全球第四个主要的死亡原因，大多数脑卒中为缺血性脑卒中(IS)。极小比例的IS是一些单基因遗传病的临床表现，绝大多数 IS是多种作用微小的遗传因素和环境因素共同作用的多因子遗传的复杂疾病。探索 IS的遗传风险因素是阐明其潜在机制、促进新型治疗靶点的发现和优化预防策略设计的重要步骤。全基因组关联研究(GWAS)的出现和大型国际联盟的创建为寻找复杂 IS遗传风险因素提供了有力的支持。GWAS不仅识别了复杂 IS特定亚型的一些风险基因座，而且还揭示了一些与所有脑卒中和所有 IS相关的基因座。但到目前为止，大多数复杂 IS遗传学研究都集中在常见单核苷酸多态性上。其他类型的变异，如低频或罕见变异等，都还未得到充分的研究。因此，仍需积极努力去扩展对复杂 IS遗传结构的理解。
      【关键词】 缺血性脑卒中；单基因遗传；多因子遗传；全基因组关联研究
      【中图分类号】 R743.3 【文献标识码】 A 【文章编号】 1003—6350（2018）17—2452—07

Genetic risk factors for ischemic stroke.
NONG Qiu-ping 1, LIAO Xiao-ping 2, LI Qi-fu 2, LIN Rong 1. 1. Department ofBiology, Hainan Medical University, Haikou 571199, Hainan, CHINA; 2. Department of Neurology, the First AffiliatedHospital of Hainan Medical University, Haikou 570102, Hainan, CHINA【Abstract】 The global burden of stroke is high, and stroke is the fourth leading cause of death worldwide. Moststrokes are ischemic strokes (IS). A very small proportion of IS are the clinical manifestations of some monogenic disor-ders, and the vast majority are multifactorial inherited and complex diseases with multiple genetic and environmental fac-tors of small effect size. Exploring the genetic risk factors of IS is an important step to clarify the potential mechanisms,facilitate the discovery of novel therapeutic targets, and optimize the design of preventive strategies. Genome-wide asso-ciation studies (GWAS) and large international consortia have provided powerful support for finding genetic risk factorsfor IS. GWAS have identified risk loci for specific stroke subtypes and also revealed loci associated with all stroke andall IS. However, so far, most genetic studies of complex IS have focused on common single nucleotide polymorphisms.Other types of genetic variation, such as low frequency or rare variants, have not been sufficiently studied. Therefore,there is still a need to actively strive to expand the understanding of the genetic structure of complex IS.
      【Key words】 Ischemic stroke; Monogenic inheritance; Multifactorial inheritance; Genome-wide association studies·综 述·doi:10.3969/j.issn.1003-6350.2018.17.025基金项目：国家自然科学基金(编号：31660309、81460184)；海南省社会发展科技专项(编号：2015SF13)