Genetic Association Studies

Publication Title: 
Plant Physiology

Root-knot nematode (RKN) Meloidogyne species are major polyphagous pests of most crops worldwide, and cultivars with durable resistance are urgently needed because of nematicide bans. The Ma gene from the Myrobalan plum (Prunus cerasifera) confers complete-spectrum, heat-stable, and high-level resistance to RKN, which is remarkable in comparison with the Mi-1 gene from tomato (Solanum lycopersicum), the sole RKN resistance gene cloned. We report here the positional cloning and the functional validation of the Ma locus present at the heterozygous state in the P.2175 accession.

Author(s): 
Claverie, Michel
Dirlewanger, Elisabeth
Bosselut, Nathalie
Van Ghelder, Cyril
Voisin, Roger
Kleinhentz, Marc
Lafargue, Bernard
Abad, Pierre
Rosso, Marie-Noëlle
Chalhoub, Boulos
Esmenjaud, Daniel
Publication Title: 
The Journal of Clinical Endocrinology and Metabolism

Aging is a natural process that involves a general decline in many physiological functions, resulting in loss of function and eventually death. Extensive research is being performed in order to elucidate the biology of aging, especially with the advent of newer molecular and genetic methodologies. The endocrine system plays a major role in orchestrating cellular interactions, metabolism, growth, and senescence. Thus, researchers traditionally used hormones as tools to induce and examine specific biological effects that are associated with aging.

Author(s): 
Barzilai, Nir
Gabriely, Ilan
Atzmon, Gil
Suh, Yousin
Rothenberg, Devorah
Bergman, Aviv
Publication Title: 
The Journals of Gerontology. Series A, Biological Sciences and Medical Sciences

Genetic factors clearly contribute to exceptional longevity and healthy aging in humans, yet the identification of the underlying genes remains a challenge. Longevity is a complex phenotype with modest heritability. Age-related phenotypes with higher heritability may have greater success in gene discovery. Candidate gene and genome-wide association studies (GWAS) for longevity have had only limited success to date.

Author(s): 
Murabito, Joanne M.
Yuan, Rong
Lunetta, Kathryn L.
Publication Title: 
Lipids in Health and Disease

BACKGROUND: The -493G/T polymorphism in the microsomal triglyceride transfer protein (MTP) gene is associated with lower serum low-density lipoprotein cholesterol (LDL-C) and triglyceride (TG) levels and longevity in several populations, but the results are inconsistent in different racial/ethnic groups. The current study was to investigate the plausible association of MTP -493G/T polymorphism with serum lipid levels and longevity in Zhuang long-lived families residing in Bama area, a famous home of longevity in Guangxi, China.

Author(s): 
Pan, Shang-Ling
Luo, Xiao-Qiu
Lu, Ze-Ping
Lu, Shao-Hua
Luo, Huan
Liu, Cheng-Wu
Hu, Cai-You
Yang, Ming
Du, Li-Li
Song, Zhen
Pang, Guo-Fang
Wu, Hua-Yu
Huang, Jin-Bo
Peng, Jun-hua
Yin, Rui-Xing
Publication Title: 
PLoS genetics

Age-related changes in DNA methylation have been implicated in cellular senescence and longevity, yet the causes and functional consequences of these variants remain unclear. To elucidate the role of age-related epigenetic changes in healthy ageing and potential longevity, we tested for association between whole-blood DNA methylation patterns in 172 female twins aged 32 to 80 with age and age-related phenotypes.

Author(s): 
Bell, Jordana T.
Tsai, Pei-Chien
Yang, Tsun-Po
Pidsley, Ruth
Nisbet, James
Glass, Daniel
Mangino, Massimo
Zhai, Guangju
Zhang, Feng
Valdes, Ana
Shin, So-Youn
Dempster, Emma L.
Murray, Robin M.
Grundberg, Elin
Hedman, Asa K.
Nica, Alexandra
Small, Kerrin S.
MuTHER Consortium
Dermitzakis, Emmanouil T.
McCarthy, Mark I.
Mill, Jonathan
Spector, Tim D.
Deloukas, Panos
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: 
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: 
Aging
Author(s): 
Harkness, Troy A.
Publication Title: 
BMC genomics

BACKGROUND: While studying long-lived mutants has advanced our understanding of the processes involved in ageing, the mechanisms underlying natural variation in lifespan and ageing rate remain largely unknown. Here, we characterise genome-wide expression patterns of a long-lived, natural variant of Drosophila melanogaster resulting from selection for starvation resistance (SR) and compare it with normal-lived control flies (C).

Author(s): 
Doroszuk, Agnieszka
Jonker, Martijs J.
Pul, Nicolien
Breit, Timo M.
Zwaan, Bas J.
Publication Title: 
Nature Reviews. Genetics

There has been mounting evidence of a causal role for telomere dysfunction in a number of degenerative disorders. Their manifestations encompass common disease states such as idiopathic pulmonary fibrosis and bone marrow failure. Although these disorders seem to be clinically diverse, collectively they comprise a single syndrome spectrum defined by the short telomere defect. Here we review the manifestations and unique genetics of telomere syndromes. We also discuss their underlying molecular mechanisms and significance for understanding common age-related disease processes.

Author(s): 
Armanios, Mary
Blackburn, Elizabeth H.

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