We identified a strong association (P = 5.36 × 10−17) between rs492602 in FUT2 and plasma vitamin B12 levels in a genome-wide scan (n = 1,658) and an independent replication sample (n = 1,059) from the Nurses' Health Study. Women homozygous for the rs492602[G] allele had higher B12 levels. This allele is in strong linkage disequilibrium with the FUT2 nonsecretor variant encoding W143X, suggesting a plausible mechanism for altered B12 absorption and plasma levels.
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We thank H. Ranu, C. Chen and the staff at the Core Genotyping Facility at the National Cancer Institute for their expertise. This research is supported by the National Institutes of Health Research Grants U54 CA100971, P01 CA87969, P01 CA55075, U01 CA098233, R01 CA 065725 and CA070817. A.H. is supported in part by training grant NIH T-32 CA 09001-30.
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Hazra, A., Kraft, P., Selhub, J. et al. Common variants of FUT2 are associated with plasma vitamin B12 levels. Nat Genet 40, 1160–1162 (2008). https://doi.org/10.1038/ng.210
Contribution of genetic ancestry and polygenic risk score in meeting vitamin B12 needs in healthy Brazilian children and adolescents
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