Contribution of common and rare variants to bipolar disorder susceptibility in extended pedigrees from population isolates. [PDF]
, 2020 Current evidence from case/control studies indicates that genetic risk for psychiatric disorders derives primarily from numerous common variants, each with a small phenotypic impact. The literature describing apparent segregation of bipolar disorder (BP)
Aldana, Ileana +37 more
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Genetic variants of SLC11A1 are associated with both autoimmune and infectious diseases: Systematic review and meta-analysis [PDF]
, 2015 © 2015 Macmillan Publishers Limited All rights reserved. A systematic review and meta-analyses were undertaken to investigate the association of SLC11A1 genetic variants with disease occurrence.
Archer, NS, Nassif, NT, O'Brien, BA
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Genetic determinants of co-accessible chromatin regions in activated T cells across humans. [PDF]
, 2018 Over 90% of genetic variants associated with complex human traits map to non-coding regions, but little is understood about how they modulate gene regulation in health and disease.
A Barrie +99 more
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Genetic variants associated with glaucomatous visual field loss in primary open-angle glaucoma
Scientific Reports, 2022 Primary open-angle glaucoma (POAG) is characterized by a progressive optic neuropathy with visual field loss. To investigate the genetic variants associated with visual field loss in POAG, Japanese POAG patients (n = 426) and control subjects (n = 246 ...
Fumihiko Mabuchi +16 more
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Ethnic differences in adiposity and diabetes risk – insights from genetic studies [PDF]
, 2020 Type 2 diabetes is more common in non-Europeans and starts at a younger age and at lower BMI cut-offs. This review discusses the insights from genetic studies about pathophysiological mechanisms which determine risk of disease with a focus on the role of
Bell, J.D. +7 more
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Sample size requirements to detect the effect of a group of genetic variants in case-control studies
Emerging Themes in Epidemiology, 2008 Background Because common diseases are caused by complex interactions among many genetic variants along with environmental risk factors, very large sample sizes are usually needed to detect such effects in case-control studies. Nevertheless, many genetic
Khoury Muin J +2 more
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HUMAN GENETIC VARIANTS AND THEIR ANALYSIS: CURRENT STATE AND FUTURE PERSPECTIVES
Slovenska pediatrija, 2020 Human genetic variants occur throughout the whole genome, both in the coding and non-coding regions. In addition to defining genetic diversity among individuals, they may, in some instances, cause various genetic diseases, many of which have their onset ...
Lara Slavec +3 more
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Genetic susceptibility variants in parkinsonism [PDF]
Parkinsonism & Related Disorders, 2016 Parkinsonism is an umbrella term for a group of disorders characterized by the clinical signs of tremor, bradykinesia, rigidity, and postural instability. On neuropathologic examination parkinsonism can display alternate protein pathologies (e.g. α-synucleinopathy or tauopathy) but the degeneration of nigral neurons is consistent.
Alexandra I, Soto-Ortolaza, Owen A, Ross
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International Journal of Bipolar Disorders, 2023 Background Bipolar disorder (BD) and schizophrenia (SZ) are complex psychotic disorders (PSY), with both environmental and genetic factors including possible maternal inheritance playing a role.
Ryobu Tachi +13 more
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Population Genetics of Rare Variants and Complex Diseases [PDF]
, 2012 Identifying drivers of complex traits from the noisy signals of genetic variation obtained from high throughput genome sequencing technologies is a central challenge faced by human geneticists today.
Hernandez, Ryan D. +3 more
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