rs3817672

This is a variant in the TFRC gene that changes a glycine to an serine.

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GWAS Catalog Trait Associations (2)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

total iron binding capacity

Bell S et al. “A genome-wide meta-analysis yields 46 new loci associating with biomarkers of iron homeostasis.” Communications Biology 4(1):156 (2021)

Allele C

OR 0.03

p 6.0e-11

N 135,430

Meta-analysisLarge GWAS

European

transferrin saturation measurement

Bell S et al. “A genome-wide meta-analysis yields 46 new loci associating with biomarkers of iron homeostasis.” Communications Biology 4(1):156 (2021)

Allele C

OR 0.03

p 2.0e-8

N 131,471

Meta-analysisLarge GWAS

European

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ClinVar annotation

Benign★★★☆

6 submitters2 publications

TFRC-related combined immunodeficiency; not specified

View on ClinVar →

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Research that mentions this SNP (1)

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Polymorphisms in genes of the steroid receptor superfamily modify postmenopausal breast cancer risk associated with menopausal hormone therapy

AssociationN=218S. Abbas et al.(2010)· International Journal of Cancer

This candidate gene association study examined 218 postmenopausal women at high breast cancer risk, testing 79 SNPs in steroid metabolism, receptor, cell cycle control, DNA repair, and carcinogen metabolism genes for associations with abnormal breast tissue cytomorphology (RPFNA atypia) as a biomarker for HRT-related breast cancer risk. Key findings: RAD54 Gln929Glu (rs3088074, OR=1.74), TFR Gly142Ser (rs3817672, OR=1.98, p=0.0025), VEGF 3'UTR (rs3025039, OR=2.12), and ACE I/D (rs4646994, OR=0.55) were associated with RPFNA atypia. RAD23B Ala249Val (rs1805329) showed strongest association with worsening cytomorphology on HRT versus off HRT (p=0.0009) and ERCC1 3'UTR (rs3212986) was borderline significant (p=0.0015). Results suggest DNA repair gene polymorphisms may modify breast tissue response to exogenous estrogens.

Traits studied:Breast cancer riskHRT-related breast cancer susceptibilityRPFNA atypia (cytomorphologic atypia in breast epithelial cells)

PubMed DOI Metascience Observatory

About TFRC

This gene encodes a cell surface receptor necessary for cellular iron uptake by the process of receptor-mediated endocytosis. This receptor is required for erythropoiesis and neurologic development. Multiple alternatively spliced variants have been identified. [provided by RefSeq, Sep 2015]