Polymorphism, Single Nucleotide

Publication Title: 
BMC medical genetics

BACKGROUND: Family studies and heritability estimates provide evidence for a genetic contribution to variation in the human life span. METHODS: We conducted a genome wide association study (Affymetrix 100K SNP GeneChip) for longevity-related traits in a community-based sample. We report on 5 longevity and aging traits in up to 1345 Framingham Study participants from 330 families.

Author(s): 
Lunetta, Kathryn L.
D'Agostino, Ralph B.
Karasik, David
Benjamin, Emelia J.
Guo, Chao-Yu
Govindaraju, Raju
Kiel, Douglas P.
Kelly-Hayes, Margaret
Massaro, Joseph M.
Pencina, Michael J.
Seshadri, Sudha
Murabito, Joanne M.
Publication Title: 
European journal of human genetics: EJHG

The 11p15.5 chromosomal region (2.8 Mb) is of particular interest as it encloses five genes (HRAS1, SIRT3, TH, INS and IGF2), the variability of which was found to be associated with life extension by association studies. Mostly important, the above genes are homologous of genes that modulate lifespan in model organisms. We scanned the area in four European sample groups for a total of 1321 centenarians and 1140 younger subjects, who shared with centenarians ethnicity and geographical origin, with a set of 239 SNPs.

Author(s): 
Lescai, Francesco
BlanchÈ, HÈlËne
Nebel, Almut
Beekman, Marian
Sahbatou, Mourad
Flachsbart, Friederike
Slagboom, Eline
Schreiber, Stefan
Sorbi, Sandro
Passarino, Giuseppe
Franceschi, Claudio
Publication Title: 
Experimental Gerontology

The brown fat specific UnCoupling Protein 1 (UCP1) is involved in thermogenesis, a process by which energy is dissipated as heat in response to cold stress and excess of caloric intake. Thermogenesis has potential implications for body mass control and cellular fat metabolism. In fact, in humans, the variability of the UCP1 gene is associated with obesity, fat gain and metabolism. Since regulation of metabolism is one of the key-pathways in lifespan extension, we tested the possible effects of UCP1 variability on survival.

Author(s): 
Rose, Giuseppina
Crocco, Paolina
D'Aquila, Patrizia
Montesanto, Alberto
Bellizzi, Dina
Passarino, Giuseppe
Publication Title: 
Experimental Gerontology

The SIR2/Sirt1 gene has been demonstrated as regulating lifespan in many model organisms, including yeast, Caenorhabditis elegans and rodents. These findings render the human homologue, SIRT1, a very plausible candidate as a modifier of human life expectancy. We therefore sought to investigate whether common allelic variation in the SIRT1 gene was associated with human longevity.

Author(s): 
Flachsbart, Friederike
Croucher, Peter J. P.
Nikolaus, Susanna
Hampe, Jochen
Cordes, Christina
Schreiber, Stefan
Nebel, Almut
Publication Title: 
The Journals of Gerontology. Series A, Biological Sciences and Medical Sciences

Recently, chromosome 4q25 was linked to exceptional human longevity, and a haplotype of the positional candidate microsomal transfer protein (MTP) gene was associated to the phenotype in U.S. Caucasians. We investigated whether linkage to 4q25 could be detected in 164 nonagenarian sibships of the Leiden Longevity Study. Additionally, we compared the MTP -493G/T and Q95H allele and haplotype frequencies in the Leiden Longevity Study (379 nonagenarians, 525 of their offspring, and 251 partners of their offspring) and in the Leiden 85-Plus Study (655 octogenarians and 244 young controls).

Author(s): 
Beekman, Marian
Blauw, Gerard Jan
Houwing-Duistermaat, Jeanine J.
Brandt, Bernd W.
Westendorp, Rudi G. J.
Slagboom, P. Eline
Publication Title: 
Mechanisms of Ageing and Development

Heat shock proteins are highly conserved proteins that, when produced intracellularly, protect stress exposed cells. In contrast, extracellular heat shock protein 70 (Hsp70) has been shown to have both protective and deleterious effects. In this study, we assessed heat shock protein 70 for its potential role in human longevity.

Author(s): 
Terry, Dellara F.
Wyszynski, Diego F.
Nolan, Vikki G.
Atzmon, Gil
Schoenhofen, Emily A.
Pennington, JaeMi Y.
Andersen, Stacy L.
Wilcox, Marsha A.
Farrer, Lindsay A.
Barzilai, Nir
Baldwin, Clinton T.
Asea, Alexzander
Publication Title: 
Neurology

OBJECTIVE: To test whether cholesterol ester transfer protein (CETP) genotype (VV homozygosity for I405V) is associated with preservation of cognitive function in addition to its association with exceptional longevity. METHODS: We studied Ashkenazi Jews with exceptional longevity (n = 158; age 99.2 +/- 0.3 years) for the associations of CETP VV genotype and lipoprotein phenotype, using the Mini-Mental State Examination (MMSE). To confirm the role of CETP in a younger cohort, we studied subjects from the Einstein Aging Study (EAS) for associations between CETP VV and cognitive impairment.

Author(s): 
Barzilai, N.
Atzmon, G.
Derby, C. A.
Bauman, J. M.
Lipton, R. B.
Publication Title: 
Biogerontology

The exceptional longevity of centenarians is due in part to inherited genetic factors, as deduced from data that show that first degree relatives of centenarians live longer and have reduced overall mortality. In recent years, a number of groups have performed genetic association studies on long-living individuals (LLI) and young controls to identify alleles that are either positively or negatively selected in the centenarian population as consequence of a demographic pressure. Many of the reported studies have shown genetic loci associated with longevity.

Author(s): 
Novelli, Valeria
Viviani Anselmi, Chiara
Roncarati, Roberta
Guffanti, Guia
Malovini, Alberto
Piluso, Giulio
Puca, Annibale Alessandro
Publication Title: 
Biometrics

In the Georgia Centenarian Study (Poon et al., Exceptional Longevity, 2006), centenarian cases and young controls are classified according to three categories (age, ethnic origin, and single nucleotide polymorphisms [SNPs] of candidate longevity genes), where each factor has two possible levels. Here we provide methodologies to determine the minimum sample size needed to detect dependence in 2 x 2 x 2 tables based on Fisher's exact test evaluated exactly or by Markov chain Monte Carlo (MCMC), assuming only the case total L and the control total N are known.

Author(s): 
Dai, Jianliang
Li, Li
Kim, Sangkyu
Kimball, Beth
Jazwinski, S. Michal
Arnold, Jonathan
Georgia Centenarian Study
Publication Title: 
Proceedings of the National Academy of Sciences of the United States of America

The human forkhead box O3A gene (FOXO3A) encodes an evolutionarily conserved key regulator of the insulin-IGF1 signaling pathway that is known to influence metabolism and lifespan in model organisms. A recent study described 3 SNPs in the FOXO3A gene that were statistically significantly associated with longevity in a discovery sample of long-lived men of Japanese ancestry [Willcox et al. (2008) Proc Natl Acad Sci USA 105:13987-13992]. However, this finding required replication in an independent population.

Author(s): 
Flachsbart, Friederike
Caliebe, Amke
Kleindorp, Rabea
BlanchÈ, HÈlËne
von Eller-Eberstein, Huberta
Nikolaus, Susanna
Schreiber, Stefan
Nebel, Almut

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