Mitchell B D, Kammerer C M, Blangero J, Mahaney M C, Rainwater D L, Dyke B, Hixson J E, Henkel R D, Sharp R M, Comuzzie A G, VandeBerg J L, Stern M P, MacCluer J W
Department of Genetics, Southwest Foundation for Biomedical Research, San Antonio, Tex 78245-0549, USA.
Circulation. 1996 Nov 1;94(9):2159-70. doi: 10.1161/01.cir.94.9.2159.
The familial aggregation of coronary heart disease can be in large part accounted for by a clustering of cardiovascular disease risk factors. To elucidate the determinants of cardiovascular disease, many epidemiological studies have focused on the behavioral and lifestyle determinants of these risk factors, whereas others have examined whether specific candidate genes influence quantitative variation in these phenotypes.
Among Mexican Americans from San Antonio (Tex), we quantified the relative contributions of both genetic and environmental influences to a large panel of cardiovascular risk factors, including serum levels of lipids, lipoproteins, glucose, hormones, adiposity, and blood pressure. Members of 42 extended families were studied, including 1236 first-, second-, and third-degree relatives of randomly ascertained probands and their spouses. In addition to the phenotypic assessments, information was obtained regarding usual dietary and physical activity patterns, medication use, smoking habits, alcohol consumption, and other lifestyle behaviors and medical factors. Maximum likelihood methods were used to partition the variance of each phenotype into components attributable to the measured covariates, additive genetic effects (heritability), household effects, and an unmeasured environmental residual. For the lipid and lipoprotein phenotypes, age, gender, and other environmental covariates accounted in general for < 15% of the total phenotypic variance, whereas genes accounted for 30% to 45% of the phenotypic variation. Similarly, genes accounted for 15% to 30% of the phenotypic variation in measures of glucose, hormones, adiposity, and blood pressure.
These results highlight the importance of considering genetic factors in studies of risk factors for cardiovascular disease.
冠心病的家族聚集现象在很大程度上可归因于心血管疾病危险因素的聚集。为了阐明心血管疾病的决定因素，许多流行病学研究聚焦于这些危险因素的行为和生活方式决定因素，而其他研究则考察了特定候选基因是否影响这些表型的数量变异。
在来自得克萨斯州圣安东尼奥的墨西哥裔美国人中，我们量化了遗传和环境影响对一大组心血管危险因素的相对贡献，这些危险因素包括血脂、脂蛋白、血糖、激素、肥胖及血压的血清水平。对42个大家庭的成员进行了研究，包括随机确定的先证者及其配偶的1236名一级、二级和三级亲属。除了进行表型评估外，还获取了有关日常饮食和身体活动模式、药物使用、吸烟习惯、饮酒情况以及其他生活方式行为和医学因素的信息。采用最大似然法将每种表型的方差分解为可归因于测量的协变量、加性遗传效应（遗传力）、家庭效应和未测量的环境残差的成分。对于脂质和脂蛋白表型，年龄、性别和其他环境协变量总体上占总表型方差的比例不到15%，而基因占表型变异的30%至45%。同样，基因占葡萄糖、激素、肥胖和血压测量值表型变异的15%至30%。
这些结果凸显了在心血管疾病危险因素研究中考虑遗传因素的重要性。
