Gulcher Jeffery, Stefansson Kari
Decode Genetics, Reykjavik, Iceland.
Methods Mol Med. 2006;128:137-52. doi: 10.1385/1-59745-159-2:137.
Cardiovascular traits represent the quintessential complex trait derived from the confluence of numerous genetic and environmental risk factors. Therefore, positional cloning of cardiovascular genes contributing to the common forms of cardiovascular disease is much more challenging than the mapping and isolation of genes contributing to rare Mendelian phenocopies of cardiovascular disease. Success requires careful and systematic phenotyping, large numbers of families that contain multiple patients, and high-quality genotyping covering for both genome scan and the follow-up case-control association study testing the genes and LD blocks within the linkage peaks.
心血管性状是由众多遗传和环境风险因素共同作用产生的典型复杂性状。因此，定位克隆导致常见心血管疾病形式的心血管基因，比定位和分离导致心血管疾病罕见孟德尔表型模拟的基因更具挑战性。成功需要仔细而系统的表型分析、包含多名患者的大量家系，以及高质量的基因分型，涵盖全基因组扫描和后续检测连锁峰内基因和连锁不平衡区域的病例对照关联研究。
