Govindaraju Diddahally R, Adrienne Cupples L, Kannel William B, O'Donnell Christopher J, Atwood Larry D, D'Agostino Ralph B, Fox Caroline S, Larson Marty, Levy Daniel, Murabito Joanne, Vasan Ramachandran S, Lee Splansky Greta, Wolf Philip A, Benjamin Emelia J
Department of Neurology, Boston University School of Medicine, Boston, Massachusetts 02118.
Department of Biostatistics, Boston University School of Public Health, Boston, Massachusetts 02118.
Adv Genet. 2008;62:33-65. doi: 10.1016/S0065-2660(08)00602-0.
This chapter provides an introduction to the Framingham Heart Study and the genetic research related to cardiovascular diseases conducted in this unique population. It briefly describes the origins of the study, the risk factors that contribute to heart disease, and the approaches taken to discover the genetic basis of some of these risk factors. The genetic architecture of several biological risk factors has been explained using family studies, segregation analysis, heritability, and phenotypic and genetic correlations. Many quantitative trait loci underlying cardiovascular diseases have been discovered using different molecular markers. Additionally, initial results from genome-wide association studies using 116,000 markers and the prospects of using 550,000 markers for association studies are presented. Finally, the use of this unique sample to study genotype and environment interactions is described.
本章介绍了弗雷明汉心脏研究以及在这一独特人群中开展的与心血管疾病相关的基因研究。它简要描述了该研究的起源、导致心脏病的风险因素，以及为发现其中一些风险因素的遗传基础所采用的方法。利用家族研究、分离分析、遗传力以及表型和遗传相关性，对几种生物学风险因素的遗传结构进行了解释。使用不同的分子标记发现了许多心血管疾病潜在的数量性状基因座。此外，还介绍了使用116,000个标记进行全基因组关联研究的初步结果，以及使用550,000个标记进行关联研究的前景。最后，描述了利用这一独特样本研究基因型与环境相互作用的情况。
