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Research Project:
B VITAMIN METABOLISM AND AGING
Location: Human Nutrition Research Center on Aging
Title: Common variants of FUT2 are associated with plasma vitamin B12 levels
Authors
| Hazra, Aditi - HARVARD SCHOOL PUB HEALTH | | Kraft, Peter - HARVARD SCHOOL PUB HEALTH | |
Selhub, Jacob
| | Giovannuci, Edward - HARVARD SCHOOL PUB HEALTH | | Thomas, Gilles - NCI/NIH/DHHS | | Hoover, Robert - NCI/NIH/DHHS | | Chanock, Stephen - NCI/NIH/DHHS | | Hunter, David - HARVARD SCHOOL PUB HEALTH |
Submitted to: Nature Genetics
Publication Type:
Peer Reviewed Journal
Publication Acceptance Date: July 8, 2008
Publication Date: October 1, 2008
Citation: Hazra, A., Kraft, P., Selhub, J., Giovannuci, E.L., Thomas, G., Hoover, R.N., Chanock, S., Hunter, D.J. 2008. Common variants of FUT2 are associated with plasma vitamin B12 levels. Nature Genetics. 40(10):1160-2.
Interpretive Summary: We identified a strong association (p=5.36x10-17) 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 W143X nonsecretor variant, suggesting a plausible mechanism for altered B12 absorption and plasma levels.
Technical Abstract: A genome-wide scan is a way to distinguish small differences in the genetic makeup of individuals. It is also a way which distinguishes if a mutation in any particular gene is widespread or it is "polymorphic." The value of these analyses lies in the identification of genes that could influence a the outcome of a disease or other "phenotypic" features. In this study we find that a gene which codes for an enzyme called FUT2 affect the level of vitamin B12 in the blood. A specific mutation in this gene is associated with higher vitamin B12 level in blood. The link between FUT2 and B12 is that FUT2 is responsible for the secretion in the stomach of H antigen which renders the person more susceptible for infection by H pylori which may cause ulcers. People with this mutation do not secrete their antigen. Absorption of vitamin B12 requires an intrinsic factor which is also secreted by stomach.
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Last Modified: 11/05/2008
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