Hazra · Nature genetics 2008 · genome-wide association study with replication · n=2717

Common variants of FUT2 are associated with plasma vitamin B12 levels.

Cited 174 times in the scientific literature.

Level 3 - non-randomized controlled study

Observational cross-sectional genetic association study nested in a cohort with independent replication

PubMed 18776911 · doi:10.1038/ng.210 · record verified 2026-08-29

What was done

A genome-wide association scan (discovery cohort, n = 1,658) and an independent replication sample (n = 1,059) were evaluated among female participants from the Nurses' Health Study to identify genetic determinants of plasma vitamin B12 levels.

What was found

The rs492602 single-nucleotide polymorphism in FUT2 was strongly associated with plasma vitamin B12 concentrations (combined P = 5.36 x 10^-17). Women homozygous for the rs492602[G] allele showed higher B12 levels. This allele was in strong linkage disequilibrium with the FUT2 nonsecretor variant W143X. Absolute values and effect sizes were not reported in the abstract.

Why it matters

The study links common variation in the FUT2 gene to circulating vitamin B12 status, proposing secretor status as a potential mechanism influencing B12 absorption.

Limits

The study was restricted to female participants from the Nurses' Health Study. Absolute effect sizes, baseline B12 concentrations, dietary intake data, and functional absorption assays were not reported in the abstract.

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