rs1800730

This is a variant in the HFE gene that changes a serine to an cysteine.

▶

GWAS Catalog Trait Associations (3)

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

▶

ClinVar annotation

Pathogenic★★★☆
16 submitters14 publications

Alzheimer disease; Alzheimer disease type 1 (AD1); Familial porphyria cutanea tarda (PCT); HFE-related disorder; Hemochromatosis type 1 (HFE1); Hereditary hemochromatosis (HFE); Microvascular complications of diabetes, susceptibility to, 7; TRANSFERRIN SERUM LEVEL QUANTITATIVE TRAIT LOCUS 2 (TFQTL2); Variegate porphyria (VP); not specified

View on ClinVar →
▶

Research that mentions this SNP (2)

▶
Evaluation of the association studies of single nucleotide polymorphisms and hepatocellular carcinoma: a systematic review
Meta-analysisFei Jin et al.(2011)· Journal of Cancer Research and Clinical Oncology

A systematic review and meta-analysis of SNP associations with hepatocellular carcinoma (HCC) identified six SNPs in five genes with overall statistical significance. Two SNPs passed reliability criteria: rs1800562 (HFE, Cys282Tyr) with a recessive model OR of 5.20 (95% CI: 2.69-10.08) across 9 studies, and rs2279744 (MDM2) with an allele contrast OR of 1.57 (95% CI: 1.36-1.80) across 5 studies. Both were classified as having moderate epidemiological evidence by Venice guidelines.

Traits studied:Hepatocellular carcinoma
PubMedDOIMetascience Observatory
▶
An extensive analysis of the hereditary hemochromatosis gene HFE and neighboring histone genes: associations with childhood leukemia
AssociationN=531Davis CF et al.(2010)· Annals of Hematology

Case-control study of 117 childhood acute lymphoblastic leukemia cases and 414 newborn controls from South Wales investigating the HFE gene and neighboring histone genes. Identified rs807212 as a tagging SNP for the common HFE haplotype with a strong male-specific protective association (adjusted OR=0.27 for heterozygotes, p=0.009) that accounts for the previously reported C282Y risk association. Analysis of 24 SNPs spanning 52 kb in the HFE region revealed complex haplotype structure with male-specific genetic effects.

Traits studied:Birth weightChildhood acute lymphoblastic leukemiaHemochromatosis
PubMedDOIMetascience Observatory

About HFE

The protein encoded by this gene is a membrane protein that is similar to MHC class I-type proteins and associates with beta2-microglobulin (beta2M). It is thought that this protein functions to regulate iron absorption by regulating the interaction of the transferrin receptor with transferrin. The iron storage disorder, hereditary haemochromatosis, is a recessive genetic disorder that results from defects in this gene. [provided by RefSeq, May 2022]

View all HFE variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

Community Wiki

No community notes yet for this variant. Sign in to start one.

Comments

Sign in to join the discussion.

Loading comments…