Genotype

Publication Title: 
Metabolism: Clinical and Experimental

OBJECTIVE: Glycated hemoglobin (HbA1c) is a stable index of chronic glycemic status and hyperglycemia associated with progressive development of insulin resistance and frank diabetes. It is also associated with premature aging and increased mortality. To uncover novel loci for HbA1c that are associated with healthy aging, we conducted a genome-wide association study (GWAS) using non-diabetic participants in the Long Life Family Study (LLFS), a study with familial clustering of exceptional longevity in the US and Denmark.

Author(s): 
An, Ping
Miljkovic, Iva
Thyagarajan, Bharat
Kraja, Aldi T.
Daw, E. Warwick
Pankow, James S.
Selvin, Elizabeth
Kao, W. H. Linda
Maruthur, Nisa M.
Nalls, Micahel A.
Liu, Yongmei
Harris, Tamara B.
Lee, Joseph H.
Borecki, Ingrid B.
Christensen, Kaare
Eckfeldt, John H.
Mayeux, Richard
Perls, Thomas T.
Newman, Anne B.
Province, Michael A.
Publication Title: 
Age (Dordrecht, Netherlands)

Longevity phenotype in humans results from the influence of environmental and genetic factors. Few gene polymorphisms have been identified so far with a modest effect on lifespan leaving room for the search of other players in the longevity game. It has been recently demonstrated that targeted disruption of the mouse homolog of the human angiotensin II type 1 receptor (AT1R) gene (AGTR1) translates into marked prolongation of animal lifespan (Benigni et al., J Clin Invest 119(3):524-530, 2009).

Author(s): 
Benigni, Ariela
Orisio, Silvia
Noris, Marina
Iatropoulos, Paraskevas
Castaldi, Davide
Kamide, Kei
Rakugi, Hiromi
Arai, Yasumichi
Todeschini, Marta
Ogliari, Giulia
Imai, Enyu
Gondo, Yasuyuki
Hirose, Nobuyoshi
Mari, Daniela
Remuzzi, Giuseppe
Publication Title: 
Age (Dordrecht, Netherlands)

The pathways that regulate energy homeostasis, the mechanisms of damage repair, and the signaling response to internal environmental changes or external signals have been shown to be critical in modulating lifespan of model organisms and humans. In order to investigate whether genetic variation of genes involved in these pathways contribute to longevity, a two-stage case-control study in two independent sets of long-lived individuals from Calabria (Italy) was performed. In stage 1, 317 SNPs in 104 genes were analyzed in 78 cases (median age 98 years) and 71 controls (median age 67 years).

Author(s): 
Di Cianni, Fausta
Campa, Daniele
Tallaro, Federica
Rizzato, Cosmeri
de Rango, Francesco
Barale, Roberto
Passarino, Giuseppe
Canzian, Federico
Gemignani, Federica
Montesanto, Alberto
Landi, Stefano
Rose, Giuseppina
Publication Title: 
PloS One

Mutations in the fused in sarcoma/translated in liposarcoma gene (FUS/TLS, FUS) have been identified in sporadic and familial forms of amyotrophic lateral sclerosis (ALS). FUS is an RNA-binding protein that is normally localized in the nucleus, but is mislocalized to the cytoplasm in ALS, and comprises cytoplasmic inclusions in ALS-affected areas. However, it is still unknown whether the neurodegeneration that occurs in ALS is caused by the loss of FUS nuclear function, or by the gain of toxic function due to cytoplasmic FUS aggregation.

Author(s): 
Sasayama, Hiroshi
Shimamura, Mai
Tokuda, Takahiko
Azuma, Yumiko
Yoshida, Tomokatsu
Mizuno, Toshiki
Nakagawa, Masanori
Fujikake, Nobuhiro
Nagai, Yoshitaka
Yamaguchi, Masamitsu
Publication Title: 
Experimental Gerontology

DNA methylation patterns change as individuals grow older, and DNA methylation appears susceptible to modification by the diet. Thus DNA methylation may be a mechanism through which diet can affect aging and longevity. We propose that effects on DNA methylation also contribute to the extension in lifespan observed in response to dietary restriction. Relationships between diet-induced changes in DNA methylation and parallel effects on aging and/or lifespan could, of course, be purely associative.

Author(s): 
Ford, Dianne
Publication Title: 
PloS One

Several studies have shown that genetic factors account for 25% of the variation in human life span. On the basis of published molecular, genetic and epidemiological data, we hypothesized that genetic polymorphisms of taste receptors, which modulate food preferences but are also expressed in a number of organs and regulate food absorption processing and metabolism, could modulate the aging process.

Author(s): 
Campa, Daniele
de Rango, Francesco
Carrai, Maura
Crocco, Paolina
Montesanto, Alberto
Canzian, Federico
Rose, Giuseppina
Rizzato, Cosmeri
Passarino, Giuseppe
Barale, Roberto
Publication Title: 
Journal of Neurogenetics

Folate metabolism is essential for cellular functioning. Despite extensive research on the roles of folate-metabolism-related gene polymorphisms in the pathophysiology of many diseases, such as cardiovascular disease, cancers, and sudden sensorineural hearing loss, little is known about their association with MÈniËre's disease (MD). The aim of this study was to investigate the effect of methylenetetrahydrofolate reductase (MTHFR) gene polymorphisms (C677T and A1298C) on the risk of MD in a Japanese population.

Author(s): 
Huang, Yang
Teranishi, Masaaki
Uchida, Yasue
Nishio, Naoki
Kato, Ken
Otake, Hironao
Yoshida, Tadao
Sone, Michihiko
Sugiura, Saiko
Ando, Fujiko
Shimokata, Hiroshi
Nakashima, Tsutomu
Publication Title: 
Methods in Molecular Biology (Clifton, N.J.)

Life expectancy has always been associated to several determinants, such as environmental and genetic factors. Studies have related human lifespan as being 25-32 % due to genetic polymorphisms between individuals associated to longevity and aging. Nonetheless, no single gene will convey a phenotype like longevity. Aging is a process that occurs from changes in various levels of the cell, from genes to functions. Longevity is the ability to cope and repair the damage that results from these changes.

Author(s): 
Vargas-AlarcÛn, Gilberto
Flores-DomÌnguez, Carmina
Publication Title: 
Nature Genetics

Osteoarthritis is the most common form of arthritis and is a major cause of pain and disability in the elderly. To search for sequence variants that confer risk of osteoarthritis of the hand, we carried out a genome-wide association study (GWAS) in subjects with severe hand osteoarthritis, using variants identified through the whole-genome sequencing of 2,230 Icelanders.

Author(s): 
Styrkarsdottir, Unnur
Thorleifsson, Gudmar
Helgadottir, Hafdis T.
Bomer, Nils
Metrustry, Sarah
Bierma-Zeinstra, S.
Strijbosch, Annelieke M.
Evangelou, Evangelos
Hart, Deborah
Beekman, Marian
Jonasdottir, Aslaug
Sigurdsson, Asgeir
Eiriksson, Finnur F.
Thorsteinsdottir, Margret
Frigge, Michael L.
Kong, Augustine
Gudjonsson, Sigurjon A.
Magnusson, Olafur T.
Masson, Gisli
TREAT-OA Consortium
arcOGEN Consortium
Hofman, Albert
Arden, Nigel K.
Ingvarsson, Thorvaldur
Lohmander, Stefan
Kloppenburg, Margreet
Rivadeneira, Fernando
Nelissen, Rob G. H. H.
Spector, Tim
Uitterlinden, Andre
Slagboom, P. Eline
Thorsteinsdottir, Unnur
Jonsdottir, Ingileif
Valdes, Ana M.
Meulenbelt, Ingrid
van Meurs, Joyce
Jonsson, Helgi
Stefansson, Kari
Publication Title: 
PloS One

Like most complex phenotypes, exceptional longevity is thought to reflect a combined influence of environmental (e.g., lifestyle choices, where we live) and genetic factors. To explore the genetic contribution, we undertook a genome-wide association study of exceptional longevity in 801 centenarians (median age at death 104 years) and 914 genetically matched healthy controls.

Author(s): 
Sebastiani, Paola
Solovieff, Nadia
Dewan, Andrew T.
Walsh, Kyle M.
Puca, Annibale
Hartley, Stephen W.
Melista, Efthymia
Andersen, Stacy
Dworkis, Daniel A.
Wilk, Jemma B.
Myers, Richard H.
Steinberg, Martin H.
Montano, Monty
Baldwin, Clinton T.
Hoh, Josephine
Perls, Thomas T.

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