Distinguishing between longevity and buffered-deleterious genotypes for exceptional human longevity: the case of the MTP gene
Language: 
English
Short Title: 
Distinguishing between longevity and buffered-deleterious genotypes for exceptional human longevity
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.

Author(s): 
Huffman, Derek M.
Deelen, Joris
Ye, Kenny
Bergman, Aviv
Slagboom, Eline P.
Barzilai, Nir
Atzmon, Gil
Item Type: 
Journal Article
Publication Title: 
The Journals of Gerontology. Series A, Biological Sciences and Medical Sciences
Journal Abbreviation: 
J. Gerontol. A Biol. Sci. Med. Sci.
Publication Date: 
2012-11
Publication Year: 
2012
Pages: 
1153-1160
Volume: 
67
Issue: 
11
ISSN: 
1758-535X
DOI: 
10.1093/gerona/gls103
Library Catalog: 
NCBI Published Medical (?)
Extra: 
PMID: 22496539 PMCID: PMC3668387

Turabian/Chicago Citation

Derek M. Huffman, Joris Deelen, Kenny Ye, Aviv Bergman, Eline P. Slagboom, Nir Barzilai and Gil Atzmon. 2012-11. "Distinguishing between longevity and buffered-deleterious genotypes for exceptional human longevity: the case of the MTP gene." The Journals of Gerontology. Series A, Biological Sciences and Medical Sciences 67: 11: 1153-1160. 10.1093/gerona/gls103.

Wikipedia Citation

<ref> {{Cite journal | doi = 10.1093/gerona/gls103 | issn = 1758-535X | volume = 67 | pages = 1153-1160 | last = Huffman | first = Derek M. | coauthors = Deelen, Joris, Ye, Kenny, Bergman, Aviv, Slagboom, Eline P., Barzilai, Nir, Atzmon, Gil | title = Distinguishing between longevity and buffered-deleterious genotypes for exceptional human longevity: the case of the MTP gene | journal = The Journals of Gerontology. Series A, Biological Sciences and Medical Sciences | date = 2012-11 | pmid = | pmc = }} </ref>