Association of Pathogenic DNA Variants Predisposing to Cardiomyopathy With Cardiovascular Disease Outcomes and All-Cause Mortality.
Sign Up to like & getrecommendations! Published in 2022 at "JAMA cardiology"
DOI: 10.1001/jamacardio.2022.0901
Abstract: Importance Pathogenic variants associated with inherited cardiomyopathy are recognized as important and clinically actionable when identified, leading some clinicians to recommend population-wide genomic screening. Objective To determine the prevalence and clinical importance of pathogenic variants… read more here.
Keywords: associated inherited; inherited cardiomyopathy; cause mortality; mortality ... See more keywords
Replication of a Novel Parkinson's Locus in a European Ancestry Population
Sign Up to like & getrecommendations! Published in 2021 at "Movement Disorders"
DOI: 10.1002/mds.28546
Abstract: A recently published East Asian genome‐wide association study of Parkinson;s disease (PD) reported 2 novel risk loci, SV2C and WBSCR17. read more here.
Keywords: novel parkinson; european ancestry; replication novel; parkinson ... See more keywords
Decreased core symptoms of mania and utilization of lithium/mood stabilizing anticonvulsants in U.S. bipolar I patients of African vs European ancestry.
Sign Up to like & getrecommendations! Published in 2019 at "Journal of affective disorders"
DOI: 10.1016/j.jad.2019.09.022
Abstract: OBJECTIVE Misdiagnosis is common in bipolar disorder and disproportionally affects racial and ethnic minorities. There is interest in better understanding the contribution of differential symptomatic illness presentation to misdiagnosis. METHODS Utilizing the Genetic Association Information… read more here.
Keywords: mood stabilizing; european ancestry; patients african; bipolar patients ... See more keywords
Multiple, independent, common variants at RET, SEMA3 and NRG1 gut enhancers specify Hirschsprung disease risk in European ancestry subjects.
Sign Up to like & getrecommendations! Published in 2021 at "Journal of pediatric surgery"
DOI: 10.1016/j.jpedsurg.2021.04.010
Abstract: PURPOSE Hirschsprung disease (HSCR) is a developmental disorder of the enteric nervous system (ENS) characterized by congenital aganglionosis arising from coding variants in ENS genes causing partial or total loss-of-function. Low-penetrance, common, noncoding variants at… read more here.
Keywords: risk; european ancestry; sema3 nrg1; hirschsprung disease ... See more keywords
Analysis of polygenic risk score usage and performance in diverse human populations
Sign Up to like & getrecommendations! Published in 2019 at "Nature Communications"
DOI: 10.1038/s41467-019-11112-0
Abstract: A historical tendency to use European ancestry samples hinders medical genetics research, including the use of polygenic scores, which are individual-level metrics of genetic risk. We analyze the first decade of polygenic scoring studies (2008–2017,… read more here.
Keywords: risk; european ancestry; diverse human; performance ... See more keywords
Analysis of potential protein-modifying variants in 9000 endometriosis patients and 150000 controls of European ancestry
Sign Up to like & getrecommendations! Published in 2017 at "Scientific Reports"
DOI: 10.1038/s41598-017-10440-9
Abstract: Genome-wide association (GWA) studies have identified 19 independent common risk loci for endometriosis. Most of the GWA variants are non-coding and the genes responsible for the association signals have not been identified. Herein, we aimed… read more here.
Keywords: endometriosis; european ancestry; analysis; controls european ... See more keywords
Large trans-ethnic meta-analysis identifies AKR1C4 as a novel gene associated with age at menarche.
Sign Up to like & getrecommendations! Published in 2021 at "Human reproduction"
DOI: 10.1093/humrep/deab086
Abstract: STUDY QUESTION Does the expansion of genome-wide association studies (GWAS) to a broader range of ancestries improve the ability to identify and generalise variants associated with age at menarche (AAM) in European populations to a… read more here.
Keywords: ancestry; gene; european ancestry; meta analysis ... See more keywords
Genomic evidence of recent European introgression into North American farmed and wild Atlantic salmon
Sign Up to like & getrecommendations! Published in 2022 at "Evolutionary Applications"
DOI: 10.1111/eva.13454
Abstract: Gene flow between wild and domestic populations has been repeatedly demonstrated across a diverse range of taxa. Ultimately, the genetic impacts of gene flow from domestic into wild populations depend both on the degree of… read more here.
Keywords: salmon; north american; european ancestry; european introgression ... See more keywords
Low 25-hydroxyvitamin D levels are more prevalent in Canadians of South Asian than European ancestry inhabiting the National Capital Region of Canada
Sign Up to like & getrecommendations! Published in 2018 at "PLoS ONE"
DOI: 10.1371/journal.pone.0207429
Abstract: The US Institute of Medicine defined serum 25-hydroxyvitamin D (25OHD) cut point values of 30 nmol/L and 40 nmol/L were used to assess the vitamin D status of South Asian and European Canadians of self-identified… read more here.
Keywords: european ancestry; south asian; national capital; asian european ... See more keywords
1697-P: Functional Impact of Type 1 Diabetes Risk Variants Identified in African- and European-Ancestry Populations
Sign Up to like & getrecommendations! Published in 2019 at "Diabetes"
DOI: 10.2337/db19-1697-p
Abstract: Genetic risk is the earliest measurable contributor to diseases such as type 1 diabetes (T1D). Multiple groups have demonstrated that genetic (or polygenic) risk scores can quantify individual disease risks in a clinically significant way… read more here.
Keywords: african ancestry; risk; type diabetes; ancestry populations ... See more keywords
Enterolignan Production in a Flaxseed Intervention Study in Postmenopausal US Women of African Ancestry and European Ancestry
Sign Up to like & getrecommendations! Published in 2021 at "Nutrients"
DOI: 10.3390/nu13030919
Abstract: Lignans are phytochemicals studied extensively as dietary factors in chronic disease etiology. Our goal was to examine associations between the gut microbiota and lignan metabolism and whether these associations differ by ethnicity. We conducted a… read more here.
Keywords: intervention; european ancestry; ancestry european; african ancestry ... See more keywords