Genome-wide linkage screen for stature and body mass index in 3.032 families: evidence for sex- and population-specific genetic effects

Stature (adult body height) and body mass index (BMI) have a strong genetic component explaining observed variation in human populations; however, identifying those genetic components has been extremely challenging. It seems obvious that sample size is a critical determinant for successful identific...

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Published in:	European journal of human genetics : EJHG Vol. 17; no. 2; pp. 258 - 266
Main Authors:	SAMMALISTO, Sampo, HIEKKALINNA, Tero, REDLINE, Susan, LARKIN, Emma K, PATEL, Sanjay R, EWAN, Amy J. H, WEBER, James L, PEROLA, Markus, PELTONEN, Leena, SCHWANDER, Karen, KARDIA, Sharon, WEDER, Alan B, RODRIGUEZ, Beatriz L, DORIA, Alessandro, KELLY, Jennifer A, BRUNER, Gail R, HARLEY, John B
Format:	Journal Article
Language:	English
Published:	Basingstoke Nature Publishing Group 01-02-2009
Subjects:	African Americans Asian Americans Biological and medical sciences Blood pressure Body Height - genetics Body Mass Index Classical genetics, quantitative genetics, hybrids Diabetes Family Fundamental and applied biological sciences. Psychology General aspects. Genetic counseling Genetics Genetics of eukaryotes. Biological and molecular evolution Genome-Wide Association Study Genomes Genotype & phenotype Hispanic Americans Human Humans Medical genetics Medical sciences Medicine Molecular and cellular biology Population genetics, reproduction patterns Public health Quantitative Trait Loci Sample size Ann Arbor Michigan United States > US Finland Genetic mapping Cartography Family study Pathogenesis Quantitative character Sex linkage mapping Corporal biometry body height Medical screening quantitative trait loci Genetic determinism Population genetics Body mass index Body size Genetic linkage Family environment Genome Locus
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Summary:	Stature (adult body height) and body mass index (BMI) have a strong genetic component explaining observed variation in human populations; however, identifying those genetic components has been extremely challenging. It seems obvious that sample size is a critical determinant for successful identification of quantitative trait loci (QTL) that underlie the genetic architecture of these polygenic traits. The inherent shared environment and known genetic relationships in family studies provide clear advantages for gene mapping over studies utilizing unrelated individuals. To these ends, we combined the genotype and phenotype data from four previously performed family-based genome-wide screens resulting in a sample of 9.371 individuals from 3.032 African-American and European-American families and performed variance-components linkage analyses for stature and BMI. To our knowledge, this study represents the single largest family-based genome-wide linkage scan published for stature and BMI to date. This large study sample allowed us to pursue population- and sex-specific analyses as well. For stature, we found evidence for linkage in previously reported loci on 11q23, 12q12, 15q25 and 18q23, as well as 15q26 and 19q13, which have not been linked to stature previously. For BMI, we found evidence for two loci: one on 7q35 and another on 11q22, both of which have been previously linked to BMI in multiple populations. Our results show both the benefit of (1) combining data to maximize the sample size and (2) minimizing heterogeneity by analyzing subgroups where within-group variation can be reduced and suggest that the latter may be a more successful approach in genetic mapping.
Bibliography:	ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 23
ISSN:	1018-4813 1476-5438
DOI:	10.1038/ejhg.2008.152