Defining the role of common variation in the genomic and biological architecture of adult human height.
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Implication
Genome-wide association study uncovers hundreds of genetic loci linked to stature in 253,288 individuals, indicating human height is shaped by thousands of common variants.
Key Points
- Characterize the common genetic variants influencing adult human height and identify the biological pathways through which they regulate skeletal growth.
- Conducted a genome-wide association study using genomic data from 253,288 individuals.
- Evaluated the proportion of phenotypic variance explained across independent validation studies using progressive subsets of strongly associated single-nucleotide polymorphisms.
- Identified 697 variants across 423 loci reaching genome-wide significance, which together account for one-fifth of adult height heritability, while all common variants combined capture 60%.
- Demonstrated that the top ~2,000, ~3,700, and ~9,500 single-nucleotide polymorphisms explain ~21%, ~24%, and ~29% of phenotypic variance, respectively.
- Identified enrichment in growth-related pathways, including fibroblast growth factors, WNT/β-catenin, and chondroitin sulfate, as well as novel regulators such as mTOR, osteoglycin, and hyaluronic acid binding.
Cite This Study
Wood et al. (2014) studied this question.