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1
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Genetic effects, gene-lifestyle interactions, and type 2 diabetes

100%
Qi L.
Open Medicine
|
2008
|
vol. 3
|
issue 1
1-7
EN
Type 2 diabetes has become a major public health challenge worldwide. It is now widely accepted that genetic components affect the development of type 2 diabetes, in concert with environmental factors such as lifestyle and diet. Traditional linkage mapping, positional cloning, and candidate gene-based association studies have identified a few genetic variants in genes such as TCF7L2, PPARG, and KCNJ11 that are reproducibly related to the risk of type 2 diabetes. To date, about ten genome-wide association (GWA) studies have been published. These studies discovered new susceptibility genes for type 2 diabetes and provide novel insight into the diabetes etiology. In addition, data especially from lifestyle intervention trials display promising evidence that the genetic variants may interact with changes of dietary habit and physical activity in predisposing to type 2 diabetes. The gene-lifestyle interactions merit extensive exploration in large, prospective studies. The findings from these areas will substantially improve the prediction and prevention of type 2 diabetes.
2
Content available remote

Best vitelliform macular dystrophy: literature review

88%
Budiene B., Liutkeviciene R., Zaliuniene D.
Open Medicine
|
2014
|
vol. 9
|
issue 6
784-795
EN
Best vitelliform macular dystrophy (BVD) is a slowly progressive form of macular dystrophy. In most cases this disease begins in childhood although sometimes it can develop in later age. The diagnosis of BVD is based on family history, clinical and electrophysiological findings. Clinical signs are variable, yet the majority of patients have a typical yellow yolk-like macular lesion in the eye fundus. Lesions are usually bilateral, but in rare cases can be unilateral. Atrophy of the macula may develop after many years. The mutations responsible for Best vitelliform macular dystrophy are found in a gene called VMD2, which encodes a transmembrane protein named bestrophin-1 (hBest1) that is a Ca2+-sensitive chloride channel. Most reported cases causing the disease are in exons 2, 4, 6 and 8 in patients with BVD. In this article we discuss the etiology of Best’s vitelliform macular dystrophy, clinical presentation, diagnostics, genetic and current treatment possibilities.
3
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Bone mineral density, carotid artery intima-media thickness, and Klotho gene polymorphism in postmenopausal women

88%
Muntean L., Simon S.-p., Popp R., Albu A., Fodor D.
Open Medicine
|
2014
|
vol. 9
|
issue 2
315-324
4
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Ethanol Withdrawal-Associated Drinking and Drinking in the Dark: Common and Discrete Genetic Contributions

63%
Crabbe J. C., Metten P., Huang L. C., Schlumbohm J. P., Spence S. E., Barkley-Levenson A. M., Finn D. A., Rhodes J. S., Cameron A. J.
Addiction Genetics
|
2012
|
vol. 1
3-11
EN
Individual mice differ in the dose of ethanol they will ingest voluntarily when it is offered during limited access periods in the circadian dark, a phenotype called drinking in the dark (DID). Substantial genetic variation in DID has been reported across a few standard inbred mouse strains, and a line of High Drinking in the Dark (HDID) mice has been established through selective breeding on the blood ethanol concentration (BEC) they attain at the end of a drinking session. Here, we report ethanol DID data for 23 inbred mouse strains, including 11 not previously reported, corroborating the genetic contributions to this trait. We also report data on a different ethanol drinking trait, the increased intake seen after multiple cycles of chronic intermittent exposure to ethanol vapor (CIE). Drinking escalated significantly during ethanol withdrawal. However, HDID mice and their HS controls showed equivalent escalation during withdrawal, demonstrating that withdrawal-associated drinking escalation is not a clear genetic correlate of selection on DID. Across inbred strains, DID is substantially genetically correlated with previously-published twobottle ethanol preference drinking data assessed under conditions of continuous ethanol access. Although inbred strain data for withdrawalassociated drinking are not available, the current pattern of results suggests that withdrawal-associated drinking is genetically distinct from DID, while genetic contributions to DID and two-bottle preference drinking are substantially similar.
5
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Advances in the Genetics and Epigenetics of Neurodegenerative Diseases

63%
Coppedè F.
Epigenetics of Degenerative Diseases
|
2013
|
vol. 1
|
issue 1
EN
Alzheimer’s disease (AD), Parkinson’s disease (PD), amyotrophic lateral sclerosis (ALS) and Huntington’s disease (HD) represent four of the major neurodegenerative diseases. AD, PD and ALS are complex disorders including both Mendelian and sporadic forms. Studies on families with these diseases led to the identification of several genes and pathways responsible for the familial forms. Those studies have been paralleled by hundreds of genetic association studies, including genome-wide screenings, in order to identify genes likely contributing to the sporadic forms. HD is a monogenic disorder caused by a trinucleotide repeat expansion in the causative gene. Increasing evidence points to an epigenetic contribution to neurodegeneration, suggesting that DNA methylation, histone tail modifications and RNA mediated mechanisms might contribute to the onset and progression of all the above diseases. In addition, epigenetic drugs are promising for the restoration of memory and motor impairments in animal models of the diseases. The aim of this review article is to provide an updated overview of the genetics and epigenetics of these major neurodegenerative disorders.
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