rs10794308 (IFITM3): Thyroid Disease Risk Variant

Key takeaways

• rs10794308 was identified in one of the largest thyroid disease genetic studies to date, covering approximately 2.9 million genomes from 19 global biobanks
• The study found 570 newly discovered genetic loci linked to five thyroid conditions including thyroid cancer
• The ALT allele at this locus is linked to increased IFITM3-AS1 expression in fat, skin, breast, and immune cell tissues
• The same ALT allele is linked to reduced IFITM3 expression in whole blood, immune cells, and artery tissue
• Specific effect sizes for this variant's association with thyroid disease are not available in the study excerpt reviewed

What the research says A 2026 multi-ancestry genome-wide association meta-analysis (White SL et al., Nature Genetics, 2026; no PMID available) spanning 19 biobanks and approximately 2.9 million participants examined genetic risk for five thyroid conditions: thyroid cancer, benign nodular goiter, Graves' disease, lymphocytic thyroiditis, and primary hypothyroidism. The study identified 313 previously reported and 570 new independent genetic loci, and found genetic correlations between thyroid cancer, benign nodular goiter, and autoimmune thyroid diseases ranging from rg = 0.16 to 0.97. rs10794308, at the IFITM3-AS1 and IFITM3 locus (referred to below as "this locus"), was among the variants identified; specific association statistics for this locus are not detailed in the available excerpt.

Reported associations

• Thyroid disease (multi-phenotype): This locus was identified in a meta-analysis covering five thyroid phenotypes (thyroid cancer, benign nodular goiter, Graves' disease, lymphocytic thyroiditis, and primary hypothyroidism) in approximately 2.9 million genomes from 19 biobanks; specific per-disease effect sizes for this locus are not reported in the available excerpt (White SL et al., Nature Genetics, 2026)

Evidence quality The underlying study is a large multi-ancestry meta-analysis of approximately 2.9 million genomes from 19 biobanks, providing substantial statistical power for variant discovery. The study identified 570 new loci across five thyroid phenotypes and reported genetic correlations between these conditions (rg = 0.16 to 0.97). However, specific association statistics (odds ratio, p-value, confidence interval) for rs10794308 itself are not present in the available text, and replication status for this specific locus cannot be confirmed from the available evidence. No PMID is currently available for this publication, which limits inline citeability. GTEx eQTL data provide complementary biological context with high statistical significance (p-values from 6.8e-67 to 1.2e-42 across tissues), but eQTL associations reflect potential mechanisms of gene regulation, not direct evidence of disease risk.

Tissue-specific expression effects

• IFITM3-AS1: The ALT allele is linked to increased expression in subcutaneous adipose tissue, EBV-transformed lymphocytes, sun-exposed lower leg skin, breast mammary tissue, and non-sun-exposed suprapubic skin GTEx Portal
• IFITM3: The ALT allele is linked to reduced expression in EBV-transformed lymphocytes, whole blood, and tibial artery tissue GTEx Portal

Lifestyle considerations No lifestyle considerations on file for this variant.