Commingling analysis of generalized body mass and composition measures: the Québec Family Study.

Human body mass and composition are heterogeneous phenotypes resulting from the combined effects of genes, environmental factors, and their interactions. In order to gain an understanding of the individual genetic determinants leading to obesity, we have initiated a systematic analysis of several measures of fatness and its phenotypes including: the body mass index (wt/ht2), fat mass, fat-free (lean) mass, the ratio of fat mass over fat-free mass, percent body fat, and a fat mass index (fat mass/ht). In this report, we examine the distributions of these age and sex adjusted variables in a large family study from Québec in terms of evidence for commingling and skewness, and evaluate the inter-relationships among the measures. Fat mass, fat-free mass and the fat mass index conceptually represent primary variables in that they are quantitative measures of relevant components of total body weight; the hypothesis of a single distribution was inferred for each of these primary measures, with significant residual skewness except for fat mass. In general, offspring (8-26 years old) distributions were more positively skewed than parent (30-60 years old) distributions. The remaining variables (body mass index, fat mass to fat-free mass ratio, and percent body fat) are indexes combining information on fat and fat-free mass into single measures. Although offspring data were consistent with a single skewed distribution, commingling was found in the parents in each case. The prominent heterogeneity between generations suggests that there may be significant developmental (genetic or environmental) effects in the transition during growing years to adult pattern phenotypes, particularly for the complex indicators of body composition.