Major gene control of human body height, weight and BMI in five ethnically different populations

Abstract

Pedigree samples were collected from five ethnically and geographically different populations : Kirghizians, Turkmenians, Chuvashians, Israelis and Mexicans. All studied individuals were assessed for body height, weight and BMI. The sample size in the studied pedigrees ranged from 381 to 1811 individuals. Segregation analysis of these traits preliminarily adjusted for sex and age was performed by means of program package  that provides parameter estimates for the major gene effects, for the residual within the genotype correlations between relatives and for the assortative mating. By the usual transmission probability tests, the ' environmental ' model was strongly rejected for all measured traits in all 5 populations. The major gene mode of inheritance, however, was accepted for all traits. The results of analysis in 5 populations were remarkably similar, and showed that except for Mexican sample, the proportion of variance attributable to major gene effect ranged between 37 and 53 % for body weight and height. In the Mexican sample it explained only about 14 % of the body weight variation. The proportion of inter-individual variation in BMI attributable to major gene effect was consistently lower in all populations in comparison with height and weight and ranged between 17 and 40 %. Strong assortive mating in body height, as estimated by correlation between putative major gene genotypes in spouses, was found in four populations, not including Mexican pedigrees. In spite of the fact that human body height, weight and other anthropometric characteristics became the subject of quantitative genetics almost from the beginning of the present century, very little is known regarding the involvement of large-effect genes in their mode of inheritance, except for body mass index (BMI) and various measures of obesity (e.g. Comuzzie et al. 1995 ; Lecomte et al. 1997).The heritability estimates obtained in standard genetic investigations, utilizing variance

QTLs for height: results of a full genome scan in Dutch sibling pairs

“…This would be in contrast to the results of a segregation analysis in which height was predicted by a putative major gene, explaining 37 -53% of the variance. 36 A more recent analysis 20 also found that a model that included a major recessive gene and residual polygenic effect (mixed-recessive model) best fitted the height data. However, the difference between the mixed-recessive model and the polygenic model was very small and both models fitted the data equally well when spouse correlations were included in the model.…”

Loci Contributing to Adult Height and Body Mass Index in African American Families Ascertained for Type 2 Diabetes

“…In particular, height has been considered a paradigm of complex genetics as its familial aggregation is likely the result of multiple genetic and environmental factors, although the dissection of the genetic factors may prove to be more tractable than other phenotypes (Hirschhorn et al 2001). Segregation analyses have suggested that the observed variation may be due to at least one major recessive gene (Xu et al 2002) that could account for 37-53% of the variance for both height and weight (Ginsburg et al 1998), with a significant polygenic background (Xu et al 2002). Recent studies have reported the heritability for height in the range 0.69-0.98 (Hirschhorn et al 2001;Perola et al 2001;Deng et al 2002;Wiltshire et al 2002;Xu et al 2002;Mukhopadhyay et al 2003;Wu et al 2003).…”

Stunting and Selection Effects of Famine: A Case Study of the Great Chinese Famine

“…Carter and Marshall, 1978;Ginsburg et al, 1998). It is well established that people tend to marry people of similar characteristics, be it education, socio-economic status, or height.…”