Pérusse L, Rice T, Després J P, Rao D C, Bouchard C
Division of Kinesiology, Laval University School of Medicine, Ste-Foy, Québec, Canada.
Arterioscler Thromb Vasc Biol. 1997 Nov;17(11):3270-7. doi: 10.1161/01.atv.17.11.3270.
In an attempt to better understand the genetic basis of the metabolic syndrome, we have undertaken a series of studies on the familial aggregation in the clustering of the coronary heart disease risk factors which characterize this syndrome. In the present study, the hypothesis of shared genetic (pleiotropy) and/or environmental factors between body fat and blood lipids is investigated by examining cross-trait (eg, father's body fat with his son's blood lipid) familial resemblance between 4 indicators of body fat (body mass index [BMI], sum of 6 skin folds [SF6]) and fat distribution (the ratio of the trunk to extremity skin folds adjusted [TER-sf] and unadjusted [TER] for SF6), and 5 blood lipid variables (total cholesterol [CH], triglycerides [TG], cholesterol associated with high-density lipoproteins [HDL], the CH/ HDL ratio and the difference between CH and HDL [CH-HDL]) measured in 1239 individuals from 309 families participating in the Quebec Family Study. A bivariate correlation model was used to obtain maximum likelihood estimates of cross-trait spouse, parent-offspring, and sibling correlations after adjustment of body fat and lipid data for the effects of age, separately in the four sex-by-generation groups. Likelihood ratio tests revealed the presence of significant (P < .05) cross-trait resemblance between body fat (BMI and SF6) and all lipid traits except CH and also between fat distribution (TER and TER-sf) and CH/HDL and CH-HDL. Only sibling cross-trait correlations were significant for all body fat-lipid pairs of measures, with bivariate familiality estimates (i.e., shared genetic and/or environmental factors) ranging from 8% to 40%. Although the hypothesis of genetic pleiotropy cannot be ruled out from the pattern of cross-trait correlations found in the present study, we conclude that environmental factors shared within sibships are probably more important than common genes in determining the covariation between body fat and blood lipids.
为了更好地理解代谢综合征的遗传基础,我们针对构成该综合征的冠心病危险因素聚集情况进行了一系列家族聚集性研究。在本研究中,通过检验4项体脂指标(体重指数[BMI]、6处皮肤褶厚度之和[SF6])和脂肪分布指标(经SF6校正[TER-sf]及未经校正[TER]的躯干与四肢皮肤褶厚度之比)与5项血脂变量(总胆固醇[CH]、甘油三酯[TG]、高密度脂蛋白相关胆固醇[HDL]、CH/HDL比值以及CH与HDL之差[CH-HDL])之间的跨性状(如父亲的体脂与儿子的血脂)家族相似性,对体脂与血脂之间共享遗传(多效性)和/或环境因素这一假说展开了研究。这些指标来自参与魁北克家族研究的309个家庭中的1239名个体。采用双变量相关模型,在针对年龄效应调整体脂和血脂数据后,分别在四个性别 - 代际组中获取跨性状配偶、亲子及同胞相关性的最大似然估计值。似然比检验显示,体脂(BMI和SF6)与除CH之外的所有血脂性状之间,以及脂肪分布(TER和TER-sf)与CH/HDL和CH-HDL之间存在显著(P < .05)的跨性状相似性。对于所有体脂 - 血脂测量指标对,仅同胞跨性状相关性显著,双变量家族性估计值(即共享遗传和/或环境因素)在8%至40%之间。尽管从本研究中发现的跨性状相关性模式无法排除遗传多效性假说,但我们得出结论,在决定体脂与血脂之间的协变关系方面,同胞间共享的环境因素可能比共同基因更为重要。