Distinguishing between longevity and buffered-deleterious genotypes for 
exceptional human longevity: the case of the MTP gene

Huffman, D. M.; Deelen, J.; Ye, K.; Bergman, A.; Slagboom, P. E.; Barzilai, N.; Atzmon, G.

doi:10.1093/gerona/gls103

Item

ITEM ACTIONSEXPORT

Add to Basket

Local TagsRelease HistoryDetailsSummary

Released

Journal Article

Distinguishing between longevity and buffered-deleterious genotypes for exceptional human longevity: the case of the MTP gene

MPS-Authors

/persons/resource/persons276058

Deelen, J.
Deelen – Genetics and Biomarkers of Human Ageing, Research Groups, Max Planck Institute for Biology of Ageing, Max Planck Society;

External Resource

https://www.ncbi.nlm.nih.gov/pubmed/22496539
(Any fulltext)

Fulltext (restricted access)

There are currently no full texts shared for your IP range.

Fulltext (public)

There are no public fulltexts stored in PuRe

Supplementary Material (public)

There is no public supplementary material available

Citation

Huffman, D. M., Deelen, J., Ye, K., Bergman, A., Slagboom, P. E., Barzilai, N., et al. (2012). Distinguishing between longevity and buffered-deleterious genotypes for exceptional human longevity: the case of the MTP gene. J Gerontol A Biol Sci Med Sci, 67(11), 1153-60. doi:10.1093/gerona/gls103.

Cite as: https://hdl.handle.net/21.11116/0000-000B-9D38-6

Abstract

The single nucleotide polymorphism, rs2866164, in the MTP gene, has been associated with human longevity but has not been validated by subsequent longevity studies. Using our population of Ashkenazi Jews, we find that the MTP CC genotype is significantly overrepresented in centenarians and their offspring, as compared with controls (p < .05). However, when we examined MTP CC genotype frequency pattern with aging, we observed a monotonic decline between ages 55-85 years followed by a dramatic enrichment after age 90 years, forming a U-shape pattern (p < .05). Furthermore, the MTP CC genotype was buffered by three validated longevity genotypes (p < .05). This buffering effect was found to confer an enrichment of the MTP CC genotype in centenarians, whereas their absence in CC controls resulted in poorer survivorship (p < .05). Thus, we conclude that MTP CC is a buffered-deleterious genotype and that assessing genotype frequency across aging is essential for discerning longevity from buffered-deleterious genotypes.