rs11166576 (LINC01307): Thyroid Disease GWAS Locus

Key takeaways

• rs11166576 lies near PPIAP7 (a pseudogene) and LINC01307 (a long non-coding RNA), two non-protein-coding elements in the human genome
• A 2.9-million-genome study across 19 international biobanks linked this genomic region to five thyroid conditions including cancer and benign nodules
• This variant is one of 570 newly identified loci from a major multi-ancestry thyroid disease genome-wide association study
• Variant-specific effect sizes and p-values for rs11166576 are not available in the provided source materials, so evidence for this locus is considered preliminary

What the research says A multi-ancestry meta-analysis examined five thyroid diseases - thyroid cancer, benign nodular goiter, Graves' disease, lymphocytic thyroiditis and primary hypothyroidism - using genetic data from approximately 2.9 million individuals across 19 biobanks, identifying 313 known and 570 previously unknown independent loci. The rs11166576 variant, located near PPIAP7 (a pseudogene, meaning a gene-like sequence that does not produce a functional protein under normal conditions) and LINC01307 (a long intergenic non-coding RNA, meaning an RNA molecule transcribed from DNA that does not instruct cells to make a protein), is catalogued within this discovery context; however, the specific effect size, p-value and disease subtype most closely linked to this locus are not detailed in the available text. A companion methods study demonstrated that newer GWAS algorithms such as Quickdraws detect up to 22.71% more associations than earlier standard approaches across comparable large datasets, providing context for how low-effect loci in regions like this one may now be discoverable at biobank scale.

Reported associations

• Thyroid disease (broad category): rs11166576 was identified in a multi-ancestry GWAS meta-analysis covering thyroid cancer, benign nodular goiter, Graves' disease, lymphocytic thyroiditis and primary hypothyroidism across approximately 2.9 million genomes; the study also found genetic correlations between thyroid cancer, benign nodular goiter and autoimmune thyroid diseases (rg = 0.16 to 0.97, where rg is a measure of shared genetic architecture across conditions); variant-specific association metrics for rs11166576 are not reported in the available source text.

Evidence quality The primary source is a large-scale meta-analysis combining data from 19 international biobanks with approximately 2.9 million genomes, representing substantial aggregate statistical power for variant discovery. Of 883 total independent loci identified across five thyroid conditions, 570 were newly reported. The study documented genetic correlations between malignant and benign thyroid conditions (rg = 0.16 to 0.97), indicating shared genetic architecture that motivates searching for shared loci. However, the available text does not report the specific odds ratio, p-value or confidence interval for rs11166576 individually, and independent replication for this specific locus is not documented in the provided materials. Newer GWAS tools identify more associations than earlier methods, which means some newly discovered loci may sit at the edge of statistical significance and require further replication to confirm. Evidence for this variant must therefore be considered preliminary.

Lifestyle considerations No lifestyle considerations on file for this variant.