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Chunk #4 — Meta-analysis identifies 12,111 height-associated SNPs

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A saturated map of common genetic variants associated with human height.
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We performed genetic analysis of up to 5,380,080 individuals from 281 studies from the GIANT consortium and 23andMe. Supplementary Fig. 1 represents projections of these 281 studies onto principal components reflecting differences in allele frequencies across ancestry groups in the 1000 Genomes Project (1KGP)5. Altogether, our discovery sample includes 4,080,687 participants of predominantly European ancestries (75.8% of total sample); 472,730 participants with predominantly East Asian ancestries (8.8%); 455,180 participants of Hispanic ethnicity with typically admixed ancestries (8.5%); 293,593 participants of predominantly African ancestries—mostly African American individuals with admixed African and European ancestries (5.5%); and 77,890 participants of predominantly South Asian ancestries (1.4%). We refer to these five groups of participants or cohorts as EUR, EAS, HIS, AFR and SAS, respectively, while recognizing that these commonly used groupings oversimplify the actual genetic diversity among participants. Cohort-specific information is provided in Supplementary Tables 1–3. We tested the association between standing height and 1,385,132 autosomal bi-allelic SNPs from the HM3 tagging panel2, which contains more than 1,095,888 SNPs with a minor allele frequency (MAF) greater than 1% in each of the five ancestral