Rare and Common Genetic Variation Underlying the Risk of Hypertrophic Cardiomyopathy in a National Biobank.
Sign Up to like & getrecommendations! Published in 2022 at "JAMA cardiology"
DOI: 10.1001/jamacardio.2022.1061
Abstract: Importance Hypertrophic cardiomyopathy (HCM) is a leading cause of sudden cardiac death in young people. Although rare genetic variants are well-established contributors to HCM risk, common genetic variants have recently been implicated in disease pathogenesis.… read more here.
Keywords: hypertrophic cardiomyopathy; rare common; genetic variants; hcm ... See more keywords
Common genetic variants have associations with human cortical brain regions and risk of schizophrenia
Sign Up to like & getrecommendations! Published in 2019 at "Genetic Epidemiology"
DOI: 10.1002/gepi.22203
Abstract: Schizophrenia is a highly heritable mental disorder and is reported to be associated with measurements in cortical regions of the human brain. In this study, we considered genome‐wide association studies to uncover genetic effects on… read more here.
Keywords: variants associations; associations human; genetic variants; common genetic ... See more keywords
Common genetic basis of ALS patients and soccer players may contribute to disease risk
Sign Up to like & getrecommendations! Published in 2022 at "Neurological Sciences"
DOI: 10.1007/s10072-022-05990-4
Abstract: The aim of the present study was to determine the prevalence of the ACSL A/G single nucleotide polymorphism among athletes and patients with amyotrophic lateral sclerosis (ALS). ALS is a progressive neurodegenerative disorder of motor… read more here.
Keywords: risk; als patients; common genetic; fatty acid ... See more keywords
Common genetic basis of the five factor model facets and intelligence: A twin study
Sign Up to like & getrecommendations! Published in 2021 at "Personality and Individual Differences"
DOI: 10.1016/j.paid.2021.110682
Abstract: Abstract The main aim of this study was to explore the etiology of relations between general cognitive ability (g) and different hierarchical phenotypic levels of the Five Factor Model (FFM), including the General Factor of… read more here.
Keywords: factor model; common genetic; genetic basis; study ... See more keywords
Common genetic variation in the Angelman syndrome imprinting centre affects the imprinting of chromosome 15
Sign Up to like & getrecommendations! Published in 2020 at "European Journal of Human Genetics"
DOI: 10.1038/s41431-020-0595-y
Abstract: Angelman syndrome (AS) is a rare neurogenetic imprinting disorder caused by the loss of function of UBE3A . In ~3–5% of AS patients, the disease is due to an imprinting defect (ID). These patients lack… read more here.
Keywords: angelman syndrome; haplotype; deletion; imprinting centre ... See more keywords
Common genetic variants and pathways in diabetes and associated complications and vulnerability of populations with different ethnic origins
Sign Up to like & getrecommendations! Published in 2021 at "Scientific Reports"
DOI: 10.1038/s41598-021-86801-2
Abstract: Diabetes mellitus is a complex and heterogeneous metabolic disorder which is often pre- or post-existent with complications such as cardiovascular disease, hypertension, inflammation, chronic kidney disease, diabetic retino- and nephropathies. However, the frequencies of these… read more here.
Keywords: different ethnic; genetic variants; variants pathways; diabetes associated ... See more keywords
The common genetic variant rs1278960 determining expression of Interferon-lambda predicts inflammatory response in critically ill COVID-19 patients
Sign Up to like & getrecommendations! Published in 2025 at "Scientific Reports"
DOI: 10.1038/s41598-025-91628-2
Abstract: The single nucleotide polymorphism rs12979860 is associated with the production of IFNλ4, a type III interferon, which offers protection from viral infection via its proinflammatory properties. We investigated if a genetically determined increase in IFNλ4… read more here.
Keywords: covid patients; ill covid; response; interferon ... See more keywords
Analysis of the common genetic component of large-vessel vasculitides through a meta-Immunochip strategy
Sign Up to like & getrecommendations! Published in 2017 at "Scientific Reports"
DOI: 10.1038/srep43953
Abstract: Giant cell arteritis (GCA) and Takayasu’s arteritis (TAK) are major forms of large-vessel vasculitis (LVV) that share clinical features. To evaluate their genetic similarities, we analysed Immunochip genotyping data from 1,434 LVV patients and 3,814… read more here.
Keywords: analysis common; component large; analysis; genetic component ... See more keywords
Sub-cellular level resolution of common genetic variation in the photoreceptor layer identifies continuum between rare disease and common variation
Sign Up to like & getrecommendations! Published in 2022 at "PLOS Genetics"
DOI: 10.1101/2022.03.15.22272407
Abstract: Photoreceptor cells (PRCs) are the light-detecting cells of the retina. Such cells can be non-invasively imaged using optical coherence tomography (OCT) which is used in clinical settings to diagnose and monitor ocular diseases. Here we… read more here.
Keywords: disease; cellular level; variation; common genetic ... See more keywords
Common genetic variation in KATNAL1 non‐coding regions is involved in the susceptibility to severe phenotypes of male infertility
Sign Up to like & getrecommendations! Published in 2022 at "Andrology"
DOI: 10.1111/andr.13221
Abstract: Previous studies in animal models evidenced that genetic mutations of KATNAL1, resulting in dysfunction of its encoded protein, lead to male infertility through disruption of microtubule remodelling and premature germ cell exfoliation. Subsequent studies in… read more here.
Keywords: genetic variation; common genetic; variation katnal1; infertility ... See more keywords
Common genetic variants do not impact clinical prediction of methotrexate treatment outcomes in early rheumatoid arthritis
Sign Up to like & getrecommendations! Published in 2025 at "Journal of Internal Medicine"
DOI: 10.1111/joim.20087
Abstract: Methotrexate (MTX) is the mainstay initial treatment of rheumatoid arthritis (RA), but individual response varies and remains difficult to predict. The role of genetics remains unclear, but studies suggest its importance. read more here.
Keywords: treatment; rheumatoid arthritis; methotrexate; common genetic ... See more keywords