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60% of the heritability of human height can be genetically characterized


Research is moving us towards understanding the genetic basis for complex traits such as human height, something that seemed out of reach just a decade ago. In this study, Wood et al. show that 697 genome-wide significantly associated single nucleotide polymorphisms (SNPs) were obtained by examining data from the genomes of over 250,000 people.

The single nucleotide polymorphisms that were most strongly associated with height explained a large proportion of phenotypic variance. The 2,000 most closely associated SNPs explained over 20% of the variance observed. In total, taking all of the common genetic variants into account, over 60% of the heritability of human height can be captured.

Many genes and gene pathways associated with height were confirmed, but new associations with variants in mTOR, osteoglycin and in the proteins involved in binding hyalauronic acid were also made.

Editor’s comment: This study has two important lessons for the bone geneticists. Firstly, if it is possible to obtain thousands of associated SNPs, one can finally predict most of phenotypic variance within a complex trait. Secondly, height is a relevant phenotype of human skeletal growth, since among newly-identified pathways are multiple genes for growth and development, including WNT4, WNT5A, CTNNB1, BMP2, BMP6, SOX5 and SOX8.

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