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Genome-wide Association Study of Vitamin B6, Vitamin B12, Folate,

Summary: REPORT
Genome-wide Association Study
of Vitamin B6, Vitamin B12, Folate,
and Homocysteine Blood Concentrations
Toshiko Tanaka,1,2,* Paul Scheet,3 Betti Giusti,4 Stefania Bandinelli,5 Maria Grazia Piras,6
Gianluca Usala,6 Sandra Lai,6 Antonella Mulas,6 Anna Maria Corsi,7 Anna Vestrini,4 Francesco Sofi,4
Anna Maria Gori,4,8 Rosanna Abbate,4 Jack Guralnik,9 Andrew Singleton,10 Goncalo R. Abecasis,11
David Schlessinger,12 Manuela Uda,6 and Luigi Ferrucci2
The B vitamins are components of one-carbon metabolism (OCM) that contribute to DNA synthesis and methylation. Homocysteine,
a by-product of OCM, has been associated with coronary heart disease, stroke and neurological disease. To investigate genetic factors that
affect circulating vitamin B6, vitamin B12, folate and homocysteine, a genome-wide association analysis was conducted in the
InCHIANTI (N 1175), SardiNIA (N 1115), and BLSA (N 640) studies. The top loci were replicated in an independent sample of
687 participants in the Progetto Nutrizione study. Polymorphisms in the ALPL gene (rs4654748, p 8.30 3 1018
) were associated
with vitamin B6 and FUT2 (rs6022662, p 2.83 3 1020
) with vitamin B12 serum levels. The association of MTHFR, a gene consistently
associated with homocysteine, was confirmed in this meta-analysis. The ALPL gene likely influences the catabolism of vitamin B6 while
FUT2 interferes with absorption of vitamin B12. These findings highlight mechanisms that affect vitamin B6, vitamin B12 and homo-
cysteine serum levels.
One-carbon metabolism (OCM) is a process whereby folate


Source: Abecasis, Goncalo - Department of Biostatistics, University of Michigan


Collections: Biology and Medicine; Mathematics