Expressive

rs113171113 - SGMS1

Magnitude 2.2 · 1 study on file

Reported associations

  • Global multi-ancestry genome-wide analyses identify genes and biological pathways associated with thyroid cancer and benign thyroid diseases - Unknown journal (n.d.) · Unknown authors · PubMed 41644669

    ABSTRACT: Thyroid diseases are common and highly heritable. We performed a meta-analysis of genome-wide association studies from 19 biobanks for five thyroid diseases: thyroid cancer (ThC), benign nodular goiter, Graves' disease, lymphocytic thyroiditis and primary hypothyroidism. We analyzed genetic association data from ~2.9 million genomes and identified 313 known and 570 new independent loci linked to thyroid diseases. We discovered genetic correlations between ThC, benign nodular goiter and autoimmune thyroid diseases (rg = 0.16-0.97). Telomere maintenance genes contributed to benign and malignant thyroid nodular disease risk, whereas cell cycle, DNA repair and damage response genes were associated with ThC. We propose a paradigm that explains genetic predisposition to benign

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Lifestyle context

Concrete actions anchored to the cited research. We do not prescribe, we describe.

Discuss with your doctor

  • Thyroid health and screening intervals High

    SGMS1 variant increases hypothyroidism risk (GWAS p=4e-11); proactive discussion enables informed management

    Request baseline TSH/free T4 testing and discuss appropriate re-screening intervals

Screening

  • TSH and free T4 screening High

    rs113171113 G allele associates with hypothyroidism risk; baseline and periodic assessment enables early detection

    Baseline TSH/free T4 in adulthood, repeat every 3-5 years or per clinical guidelines

  • Hypothyroidism symptoms awareness Moderate

    Early symptom recognition enables prompt evaluation in people with elevated hypothyroidism risk from genetic variant

    Note if experiencing persistent fatigue, weight gain, cold intolerance, dry skin, or mood changes