Rice T, Borecki I B, Bouchard C, Rao D C
Division of Biostatistics, Washington University School of Medicine, St. Louis, MO 63110.
Am J Hum Genet. 1993 May;52(5):967-73.
Segregation patterns of three body composition measures which were derived from underwater weighing were evaluated in a random sample of 176 French-Canadian families. Two of the variables can be considered as primary partitions of weight (fat mass [FM] and fat-free mass [FFM]), while the remaining variable (percent body fat [%BF]) is a derived index combining the measures of both fat and fat-free weight. This study represents the first report investigating major gene effects for these measures. Segregation analyses revealed that a major locus hypothesis could not be rejected for two of the three phenotypes. The single exception was FFM, for which nearly 60% of the variance was accounted for by a non-Mendelian major effect, which may reflect environmentally based commingling or may be in part a function of gene-environment interactions or correlations. In contrast to the results for FFM, the results for each of FM and %BF were similar and suggested a major locus which accounted for 45% of the variance, with an additional 22%-26% due to a multifactorial component. Given the similarity of the major gene characteristics for these two phenotypes, the possibility that the same gene underlies both measures warrants investigation. A reasonable hypothesis is to consider genes that may influence nutrient partitioning, as the family of candidate genes to receive the major attention.
在176个法裔加拿大家庭的随机样本中,评估了通过水下称重得出的三种身体成分测量指标的分离模式。其中两个变量可被视为体重的主要划分(脂肪量[FM]和去脂体重[FFM]),而其余变量(体脂百分比[%BF])是一个综合了脂肪和去脂体重测量值的派生指标。本研究是首篇调查这些测量指标主要基因效应的报告。分离分析显示,三种表型中的两种无法拒绝主要基因座假说。唯一的例外是FFM,其近60%的方差由非孟德尔主要效应解释,这可能反映了基于环境的混合,或者可能部分是基因-环境相互作用或相关性的作用。与FFM的结果相反,FM和%BF的结果相似,表明存在一个占方差45%的主要基因座,另外22%-26%归因于多因素成分。鉴于这两种表型主要基因特征的相似性,这两种测量指标由同一基因作为基础的可能性值得研究。一个合理的假设是考虑可能影响营养分配的基因,将其作为主要关注的候选基因家族。