Study the determinants and effects of thyroid diseases and function
Datasets
GWAS meta-analysis summary statistics for download
By downloading the data you agree to use the data for scientific purposes only, and you do not attempt to re-identify individual participants included in the summary statistics. Furthermore, you are not allowed to redistribute the downloaded files or to upload them into a public repository. The download will be logged and may be analyzed for statistical purposes.
The dataset includes the genome-wide association analysis (GWAS) meta-analysis results for thyrotropin (TSH), free thyroxine (FT4), free T3 (FT3), total T3 (TT3), the FT3/FT4 ratio, the TT3/FT4 ratio, high TSH levels, and low TSH levels of a sex-combined dataset. The GWAS on TSH, FT4, FT3 and TT3 were calculated using a linear model after inverse-normal transformation of the thyroid hormone measurements (outcome). The ratios were log-transformed prior to the GWAS. The high/low TSH 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. The colocalization results are described in the README included in the zip file.
Citation for this dataset: Sterenborg R, Steinbrenner I, Li Y, Bujnis MN, Naito T, Marouli E et al. Multi-trait analysis characterizes the genetics of thyroid function and identifies causal associations with clinical implications. Nat Commun. 2024 Jan 30;15(1):888. doi: 10.1038/s41467-024-44701-9
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.
These summary statistics can also be obtained through the CHARGE dbGaP website (https://www.ncbi.nlm.nih.gov/gap) under accession number phs000930.
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
p-value of the sample-size weighted meta-analysis (used as primary results in the publication)
Allele1
coding allele
Allele2
noncoding allele
Effect
the association effect of allele 1
StdErr
the standard error of the effect
P.value
p-value of the inverse-variance weighted meta-analysis
I2
the I2 heterogeneity measure
N
the total sample size
Description of this dataset
The dataset includes the genome-wide association analysis (GWAS) meta-analysis results of the discovery stage for Thyroid Peroxidase Antibodies (TPOAb).
The GWAS on continuous TPOAb levels were calculated using a linear model, the TPOAb-positivity as a case-control analysis using a logistic regression.
The z-score based p-values (p_zscoreMeta) were used as primary results in the publication because of the assay heterogeneity, where the remaining results were only calculated to get a rough estimation of the effect sizes.
Citation for this dataset: Medici M, Porcu E, Pistis G, Teumer A, Brown SJ et al. Identification of novel genetic Loci associated with thyroid peroxidase antibodies and clinical thyroid disease. PLoS Genet. 2014;10(2):e1004123. doi: 10.1371/journal.pgen.1004123
