Tuyển tập báo cáo các nghiên cứu khoa học quốc tế ngành y học dành cho các bạn tham khảo đề tài: Three periods of one and a half decade of ischemic stroke susceptibility gene research: lessons we have learned | Maasz and Melegh Genome Medicine 2010 2 64 http content 2 9 64 w Genome Medicine REVIEW L_ Three periods of one and a half decade of ischemic stroke susceptibility gene research lessons we have learned Anita Maasz and Bela Melegh Abstract Candidate gene association studies linkage studies and genome-wide association studies have highlighted the role of genetic factors in the development of ischemic stroke. This research started over a decade ago and can be separated into three major periods of research. In the first wave classic susceptibility markers associated with other diseases such as the Leiden mutation in Factor V and mutations in the prothrombin and 5 10-methylenetetrahydrofolate reductase MTHFR genes were tested for their role in stroke. These first studies used just a couple of hundred samples or even less. The second and still ongoing period bridges the two other periods of research and has led to a rapid increase in the spectrum of functional variants of genes or genomic regions discovered primarily in relation to other diseases tested on larger stroke samples of clinically better stratified patients. Large numbers of these alleles were originally discovered by array-based genome-wide association studies. The third period of research involves the direct array screening of large samples this approach represents significant progress for research in the field. Research into susceptibility genes for stroke has taught us that careful stratification of patients is critical that susceptibility alleles are often shared between diseases and that not all susceptibility factors that associate with clinical traits that are themselves risk factors for stroke such as increase of triglycerides necessarily represent susceptibility for stroke. Research so far has been mainly focused on large- and small-vessel associated stroke and knowledge on other types of stroke which represent much smaller population samples is still very scarce. Although .
