rs28362459

This is a variant in the FUT3 gene that changes a leucine to an arginine.

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GWAS Catalog Trait Associations (6)

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

serum carcinoembryonic antigen measurement

Jee YH et al. “Genome-wide association studies in a large Korean cohort identify quantitative trait loci for 36 traits and illuminate their genetic architectures.” Nature Communications 16(1):4935 (2025)

Allele C

OR 0.07

p 5.0e-128

N 153,950

Large GWAS

East Asian

Jeon S et al. “Korea4K: whole genome sequences of 4,157 Koreans with 107 phenotypes derived from extensive health check-ups.” Gigascience 13 (2024)

Allele C

OR 0.22

p 6.0e-11

N 1,916

Large GWAS

East Asian

cancer biomarker measurement

Jeon S et al. “Korea4K: whole genome sequences of 4,157 Koreans with 107 phenotypes derived from extensive health check-ups.” Gigascience 13 (2024)

Allele C

OR 0.67

p 4.0e-85

N 1,920

Large GWAS

East Asian

cancer antigen 19.9 measurement

Choe EK et al. “Leveraging deep phenotyping from health check-up cohort with 10,000 Korean individuals for phenome-wide association study of 136 traits.” Scientific Reports 12(1):1930 (2022)

Allele C

OR 3.32

p 1.0e-46

N 7,617

Large GWAS

East Asian

galactoside 34-L-fucosyltransferase measurement

Suhre K et al. “Connecting genetic risk to disease end points through the human blood plasma proteome.” Nature Communications 8:14357 (2017)

Allele C

OR 0.68

p 1.0e-20

N 997

Small GWAS

multi-ancestry

polyp of gallbladder

Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)

Allele C

OR 0.38

p 5.0e-11

N 168,302

Large GWAS

East Asian

total cholesterol measurement

Graham SE et al. “The power of genetic diversity in genome-wide association studies of lipids.” Nature 600(7890):675-679 (2021)

Allele C

OR 0.02

p 7.0e-9

N 1,320,016

Large GWAS

European

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ClinVar annotation

Association

1 submitter1 publication

FUT3-related disorder; Le(-) PHENOTYPE

View on ClinVar →

About FUT3

The Lewis histo-blood group system comprises a set of fucosylated glycosphingolipids that are synthesized by exocrine epithelial cells and circulate in body fluids. The glycosphingolipids function in embryogenesis, tissue differentiation, tumor metastasis, inflammation, and bacterial adhesion. They are secondarily absorbed to red blood cells giving rise to their Lewis phenotype. This gene is a member of the fucosyltransferase family, which catalyzes the addition of fucose to precursor polysaccharides in the last step of Lewis antigen biosynthesis. It encodes an enzyme with alpha(1,3)-fucosyltransferase and alpha(1,4)-fucosyltransferase activities. Mutations in this gene are responsible for the majority of Lewis antigen-negative phenotypes. Differences in the expression of this gene are associated with host susceptibility to viral infection. [provided by RefSeq, Aug 2020]

rs28362459

GWAS Catalog Trait Associations (6)

serum carcinoembryonic antigen measurement

cancer biomarker measurement

cancer antigen 19.9 measurement

galactoside 34-L-fucosyltransferase measurement

polyp of gallbladder

total cholesterol measurement

ClinVar annotation

About FUT3

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