Haematological traits - Cardiovascular Epidemiology Unit

Haematological trait GWAS summary statistics

We conducted a genomewide association study in the INTERVAL and UK Biobank studies, testing 29.5 million genetic variants for association with 36 red cell, white cell, and platelet traits in 173,480 European-ancestry participants. We identified thousands of associated variants, including hundreds of low frequency (<5%) and rare (<1%) variants with a strong impact on blood cell phenotypes. The paper describing these results was published in Cell in November 2016: Astle, William J., Elding, H., Jiang, T., et al. The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. Cell 167, 1415-1429.e1419.

The links to the summary statistics from this paper are below.

The results are presented in various formats:

wide_form – complete three-way meta-analysis summary statistics, including sub-study level and meta-level statistics
narrow_form – partial three-way meta-analysis summary statistics, no sub-study level statistics, meta-level statistics only and
ukbb_ukbil_meta – two-way meta-analysis of UKBB and UKBIL sub-studies in the results format requested for data return by UK Biobank http://www.ukbiobank.ac.uk/wp-content/uploads/2017/08/Return-of-Results_Guidance-Note_aug17.pdf.

Also available are an IGV file igv_gwsig.tar.gz ftp://ftp.sanger.ac.uk/pub/project/humgen/summary_statistics/human/2017-12-12/igv_gwsig.tar.gz containing summary statistics on all variants associated significantly with the relevant trait at the critical level alpha=8.31x10e-9 and an IGV file igv_condsig.tar.gz ftp://ftp.sanger.ac.uk/pub/project/humgen/summary_statistics/human/2017-12-12/igv_condsig.tar.gz containing summary statistics for a set of variants identified by a stepwise model selection procedure to explain the genome-wide significant associations for the relevant trait parsimoniously (corresponding to table S4 of Astle et. al) For a more detailed explanation please see the file README.txt ftp://ftp.sanger.ac.uk/pub/project/humgen/summary_statistics/human/2017-12-12/README.txt.