GWAS meta-analysis summary statistics for download

Summary statistics can also be obtained through the CHARGE dbGaP website ( under accession number phs000930.

hyperthyroidism overall 123
hypothyroidism overall 124

Description of columns
MarkerName chr:position:type (GRCh build 37)
Allele1 coding allele
Allele2 noncoding allele
Freq1 the frequency of allele1 from the 1000Gv3 ALL ancestry reference panel
Effect the association effect of allele 1
StdErr the standard error of the effect
P.value the association p-value
N the total sample size
I2 the I2 heterogeneity measure

Description of this dataset
The dataset includes the genome-wide association analysis (GWAS) meta-analysis results of the discovery stage for thyrotropin (TSH), free thyroxine (FT4), increased TSH (hypothyroidism) and decreased TSH (hyperthyroidism) in the corresponding sex-strata. The GWAS on TSH and FT4 were calculated using a linear model after inverse-normal transformation of the thyroid hormone measurements (outcome). The hypo-/hyperthyroidism GWAS were calculated as a case-control analysis using a logistic regression model. The results sets include all genetic variants that passed final quality control filters, and that were included in the 1000Gv3 ALL ethnicities reference panel.

Citation for this dataset:
Teumer A, Chaker L, Groeneweg S, Li Y, Di Munno C, Barbieri C et al. Genome-wide analyses identify a role for SLC17A4 and AADAT in thyroid hormone regulation. Nat Commun. 2018;9: 4455. doi:10.1038/s41467-018-06356-1