rs3811647

This variant is located in the TF gene.

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GWAS Catalog Trait Associations (6)

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

transferrin measurement

Pichler I et al. “Identification of a common variant in the TFR2 gene implicated in the physiological regulation of serum iron levels.” Human Molecular Genetics 20(6):1232-40 (2011)
Allele A
OR 15.34
p 3.0e-47
N 5,633
Large GWAS
European

alcohol drinking

Kutalik Z et al. “Genome-wide association study identifies two loci strongly affecting transferrin glycosylation.” Human Molecular Genetics 20(18):3710-7 (2011)
Allele A
OR 0.36
p 1.0e-35
N 5,181
Large GWAS
European

erythrocyte count

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele G
OR 0.03
p 3.0e-26
N 405,366
Major Consortium StudyLarge GWAS
European

total blood protein measurement

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele A
OR 0.02
p 4.0e-15
N 394,642
Large GWAS
European

serum iron amount

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele G
OR 0.33
p 1.0e-126
N 11,566
Major Consortium StudyLarge GWAS
European
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Research that mentions this SNP (1)

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The role ofECE1variants in cognitive ability in old age and Alzheimer's disease risk
AssociationN=6,065Gillian Hamilton et al.(2012)· American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

This study evaluated variants in seven amyloid-beta degrading genes (ACE, ECE1, ECE2, IDE, MME, PLAU, TF) for association with Alzheimer's disease (AD) risk and cognitive phenotypes in older adults. In the GERAD1 cohort (3,333 AD cases, 1,225 controls), a four-SNP ECE1 intragenic haplotype (rs212524/rs212525/rs2282714/rs212531) was significantly associated with increased AD risk (OR=1.61, P=0.00035) in APOE ε4 carriers. In the Lothian Birth Cohort 1936 (LBC1936), a two-SNP ECE1 haplotype (rs2282715/rs3026883) was associated with lower non-verbal reasoning scores (β=-0.19, P=0.00036) in APOE ε4 non-carriers. Meta-analysis of four cognitive cohorts confirmed ECE1 promoter region SNPs associated with non-verbal reasoning in APOE ε4 non-carriers. Functional analysis showed the ECE1 rs213045 (338C>A) variant affected promoter activity in neuroblastoma cell lines, suggesting tissue-specific regulation.

Traits studied:Alzheimer's diseaseCognitive abilityLogical memoryMatrix reasoningNon-verbal reasoningVerbal fluency
PubMedDOIMetascience Observatory

About TF

This gene encodes a glycoprotein with an approximate molecular weight of 76.5 kDa. It is thought to have been created as a result of an ancient gene duplication event that led to generation of homologous C and N-terminal domains each of which binds one ion of ferric iron. The function of this protein is to transport iron from the intestine, reticuloendothelial system, and liver parenchymal cells to all proliferating cells in the body. This protein may also have a physiologic role as granulocyte/pollen-binding protein (GPBP) involved in the removal of certain organic matter and allergens from serum. [provided by RefSeq, Sep 2009]

View all TF variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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