Winham Stacey J, de Andrade Mariza, Miller Virginia M
Health Sciences Research, Division of Biostatistics and Informatics, Mayo Clinic, Rochester, MN 55905, USA.
Department of Surgery, Mayo Clinic, Rochester, MN 55905, USA; Department of Physiology and Biomedical Engineering, Mayo Clinic, Rochester, MN 55905, USA.
Atherosclerosis. 2015 Jul;241(1):219-28. doi: 10.1016/j.atherosclerosis.2015.03.021. Epub 2015 Mar 16.
Sex differences in incidence and prevalence of and morbidity and mortality from cardiovascular disease are well documented. However, many studies examining the genetic basis for cardiovascular disease fail to consider sex as a variable in the study design, in part, because there is an inherent difficulty in studying the contribution of the sex chromosomes in women due to X chromosome inactivation. This paper will provide general background on the X and Y chromosomes (including gene content, the pseudoautosomal regions, and X chromosome inactivation), discuss how sex chromosomes have been ignored in Genome-wide Association Studies (GWAS) of cardiovascular diseases, and discuss genetics influencing development of cardiovascular risk factors and atherosclerosis with particular attention to carotid intima-medial thickness, and coronary arterial calcification based on sex-specific studies. In addition, a brief discussion of how ethnicity and hormonal status act as confounding variables in sex-based analysis will be considered along with methods for statistical analysis to account for sex in cardiovascular disease.
心血管疾病的发病率、患病率以及发病率和死亡率方面的性别差异已有充分记录。然而，许多研究心血管疾病遗传基础的研究在研究设计中未能将性别视为一个变量，部分原因是由于X染色体失活，研究女性性染色体的贡献存在内在困难。本文将提供关于X和Y染色体的一般背景知识（包括基因含量、假常染色体区域和X染色体失活），讨论在心血管疾病的全基因组关联研究（GWAS）中，性染色体是如何被忽视的，并基于性别特异性研究，讨论影响心血管危险因素和动脉粥样硬化发展的遗传学，尤其关注颈动脉内膜中层厚度和冠状动脉钙化。此外，还将简要讨论种族和激素状态如何在基于性别的分析中作为混杂变量，以及在心血管疾病中考虑性别的统计分析方法。
