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https://www.readbyqxmd.com/read/28633381/robust-tests-for-additive-gene-environment-interaction-in-case-control-studies-using-gene-environment-independence
#1
Gang Liu, Seunggeun Lee, Alice W Lee, Anna H Wu, Elisa V Bandera, Allan Jensen, Mary Anne Rossing, Kirsten B Moysich, Jenny Chang-Claude, Jennifer Doherty, Aleksandra Gentry-Maharaj, Lambertus Kiemeney, Simon A Gayther, Francesmary Modugno, Leon Massuger, Ellen L Goode, Brooke Fridley, Kathryn L Terry, Daniel W Cramer, Susan J Ramus, Hoda Anton-Culver, Argyrios Ziogas, Jonathan P Tyrer, Joellen M Schildkraut, Susanne K Kjaer, Penelope M Webb, Roberta B Ness, Usha Menon, Andrew Berchuck, Paul D Pharoah, Harvey Risch, Celeste Leigh Pearce, Bhramar Mukherjee
There have been recent proposals advocating the use of additive gene-environment interaction instead of the widely used multiplicative scale, as a more relevant public health measure. Using gene-environment independence enhances the power for testing multiplicative interaction in case-control studies. However, under departure from this assumption, substantial bias in the estimates and inflated Type I error in the corresponding tests can occur. This paper extends the empirical Bayes (EB) approach previously developed for multiplicative interaction that trades off between bias and efficiency in a data-adaptive way, to the additive scale...
June 14, 2017: American Journal of Epidemiology
https://www.readbyqxmd.com/read/28625324/esr2-genetic-variants-and-combined-oral-contraceptive-use-associated-with-the-risk-of-stroke
#2
Zhenlin Xu, Ying Li, Xiaoping Huang, Wei Shen, Jianling Bai, Chong Shen, Yang Zhao
BACKGROUND AND AIM: There is accumulating evidence suggesting an important role of estrogen receptor-β in the development of cardiovascular disease. The present study aims to investigate the relationship of estrogen receptor β gene (ESR2) polymorphisms with stroke risk in Chinese women, and further evaluate the gene-environment interaction of ESR2 and combined oral contraceptive (COC) use on stroke risk. METHODS: A case-control study was conducted with 446 first-ever stroke patients and 864 control subjects recruited from our prospective female cohort...
February 2017: Archives of Medical Research
https://www.readbyqxmd.com/read/28623160/basic-concepts-in-molecular-biology-related-to-genetics-and-epigenetics
#3
Dolores Corella, Jose M Ordovas
The observation that "one size does not fit all" for the prevention and treatment of cardiovascular disease, among other diseases, has driven the concept of precision medicine. The goal of precision medicine is to provide the best-targeted interventions tailored to an individual's genome. The human genome is composed of billions of sequence arrangements containing a code that controls how genes are expressed. This code depends on other nonstatic regulators that surround the DNA and constitute the epigenome...
June 13, 2017: Revista Española de Cardiología
https://www.readbyqxmd.com/read/28622698/interactions-between-acyp2-genetic-polymorphisms-and-environment-factors-with-susceptibility-to-ischemic-stroke-in-a-han-chinese-population
#4
Qiong Cheng, Yong-Kun Li, Feng Lu, Lianhua Yin, Yin-Zhou Wang, Wen Wei, Qian Lin
AIMS: To investigate the association of several single nucleotide polymorphisms (SNPs) within ACYP2 gene and additional gene- environment interaction with ischemic stroke (IS) risk in a Chinese population. RESULTS: IS risk was significantly higher in carriers with the G allele of rs11896604 than those with CC genotype (CG or GG versus CC), adjusted OR (95%CI) =1.60 (1.18-2.20), and higher in carriers with the A allele of rs12615793 than those with GG genotype (GA or AA versus GG), adjusted OR (95%CI) = 1...
June 9, 2017: Oncotarget
https://www.readbyqxmd.com/read/28620608/a-path-to-implement-precision-child-health-cardiovascular-medicine
#5
REVIEW
Marlin Touma, Brian Reemtsen, Nancy Halnon, Juan Alejos, J Paul Finn, Stanley F Nelson, Yibin Wang
Congenital heart defects (CHDs) affect approximately 1% of live births and are a major source of childhood morbidity and mortality even in countries with advanced healthcare systems. Along with phenotypic heterogeneity, the underlying etiology of CHDs is multifactorial, involving genetic, epigenetic, and/or environmental contributors. Clear dissection of the underlying mechanism is a powerful step to establish individualized therapies. However, the majority of CHDs are yet to be clearly diagnosed for the underlying genetic and environmental factors, and even less with effective therapies...
2017: Frontiers in Cardiovascular Medicine
https://www.readbyqxmd.com/read/28620072/genes-environment-and-the-heart-putting-the-pieces-together
#6
EDITORIAL
Edwin P Kirk
No abstract text is available yet for this article.
June 2017: Circulation. Cardiovascular Genetics
https://www.readbyqxmd.com/read/28620071/multiancestry-study-of-gene-lifestyle-interactions-for-cardiovascular-traits-in-610-475-individuals-from-124-cohorts-design-and-rationale
#7
D C Rao, Yun J Sung, Thomas W Winkler, Karen Schwander, Ingrid Borecki, L Adrienne Cupples, W James Gauderman, Kenneth Rice, Patricia B Munroe, Bruce M Psaty
BACKGROUND: Several consortia have pursued genome-wide association studies for identifying novel genetic loci for blood pressure, lipids, hypertension, etc. They demonstrated the power of collaborative research through meta-analysis of study-specific results. METHODS AND RESULTS: The Gene-Lifestyle Interactions Working Group was formed to facilitate the first large, concerted, multiancestry study to systematically evaluate gene-lifestyle interactions. In stage 1, genome-wide interaction analysis is performed in 53 cohorts with a total of 149 684 individuals from multiple ancestries...
June 2017: Circulation. Cardiovascular Genetics
https://www.readbyqxmd.com/read/28619829/germline-genetic-variants-and-lung-cancer-survival-in-african-americans
#8
Carissa C Jones, William S Bush, Dana C Crawford, Angela S Wenzlaff, Ann G Schwartz, John K Wiencke, Margaret R Wrensch, William J Blot, Stephen J Chanock, Eric L Grogan, Melinda C Aldrich
BACKGROUND: African Americans (AAs) have the highest lung cancer mortality in the U.S. Genome-wide association studies of germline variants influencing lung cancer survival have not yet been conducted in AAs. We examined five previously reported GWAS catalog variants and explored additional genome-wide associations among AA lung cancer cases. METHODS: Incident non-small cell lung cancer cases (N=286) in the Southern Community Cohort Study were genotyped on the Illumina HumanExome BeadChip...
June 15, 2017: Cancer Epidemiology, Biomarkers & Prevention
https://www.readbyqxmd.com/read/28619195/association-of-triglyceride-related-genetic-variants-with-mitral%C3%A2-annular%C3%A2-calcification
#9
Mehdi Afshar, Kevin Luk, Ron Do, Line Dufresne, David S Owens, Tamara B Harris, Gina M Peloso, Kathleen F Kerr, Quenna Wong, Albert V Smith, Mathew J Budoff, Jerome I Rotter, L Adrienne Cupples, Stephen S Rich, James C Engert, Vilmundur Gudnason, Christopher J O'Donnell, Wendy S Post, George Thanassoulis
BACKGROUND: Mitral annular calcium (MAC), commonly identified by cardiac imaging, is associated with cardiovascular events and predisposes to the development of clinically important mitral valve regurgitation and mitral valve stenosis. However, its biological determinants remain largely unknown. OBJECTIVES: The authors sought to evaluate whether a genetic predisposition to elevations in plasma lipids is associated with the presence of MAC. METHODS: The authors used 3 separate Mendelian randomization techniques to evaluate the associations of lipid genetic risk scores (GRS) with MAC in 3 large patient cohorts: the Framingham Health Study, MESA (Multiethnic European Study of Atherosclerosis), and the AGE-RS (Age, Gene/Environment Susceptibility-Reykjavik Study)...
June 20, 2017: Journal of the American College of Cardiology
https://www.readbyqxmd.com/read/28617048/developmental-patterns-of-child-emotion-dysregulation-as-predicted-by-serotonin-transporter-genotype-and-parenting
#10
Amanda N Noroña, Irene Tung, Steve S Lee, Jan Blacher, Keith A Crnic, Bruce L Baker
Individual differences in emotion regulation are central to social, academic, occupational, and psychological development, and emotion dysregulation (ED) in childhood is a risk factor for numerous developmental outcomes. The present study aimed to (a) describe the developmental trajectory of ED across early childhood (3-6 years) and (b) examine its sensitivity to youth serotonin transporter genotype, positive and negative parenting behaviors, and their interaction. Participants were 99 families in the Collaborative Family Study, a longitudinal study of children with or without developmental delays...
June 15, 2017: Journal of Clinical Child and Adolescent Psychology
https://www.readbyqxmd.com/read/28616916/-relationship-between-lep-g2548a-polymorphism-and-cholesterol-gallstone
#11
Jing Chen, Jie He, Jiang-Hui Chen, Zhen-Bin Lai, Qi-Jun Cheng, Xiao-Shan Yu, Hui-Fen Liu, Yan-Hua Su, Ben-Hua Zhao
OBJECTIVES: To determine the associations of single nucleotide polymorphism (SNP) in leptin (LEP) genes and environmental factors with cholesterol gallstone in southeast Han populations. METHODS: A 1:2 matched case-control study was conducted involving 200 patients with cholesterol gallstone. Genotyping of the SNP was examined on the LightCycler480 PCR platform using in-house high resolution melting (HRM) approaches. Detection correctness was validated through direct sequencing...
May 2017: Sichuan da Xue Xue Bao. Yi Xue Ban, Journal of Sichuan University. Medical Science Edition
https://www.readbyqxmd.com/read/28616342/bicuspid-aortic-valve-syndrome-a-multidisciplinary-approach-for-a-complex-entity
#12
REVIEW
María Martín, Rebeca Lorca, José Rozado, Rubén Alvarez-Cabo, Juan Calvo, Isaac Pascual, Helena Cigarrán, Isabel Rodríguez, César Morís
Bicuspid aortic valve (BAV) or bicuspid aortopathy is the most common congenital heart disease. It can be clinically silent and it is often identified as an incidental finding in otherwise healthy, asymptomatic patients. However, it can be dysfunctioning at birth, even requiring neonatal intervention, or, in time, lead to aortic stenosis, aortic insufficiency, and endocarditis, and also be associated with aortic aneurysm and aortic dissection. Given its prevalence and significant complications, it is estimated that BAV is responsible for more deaths and morbidity than the combined effects of all the other congenital heart defects...
May 2017: Journal of Thoracic Disease
https://www.readbyqxmd.com/read/28615364/common-genetic-variation-and-susceptibility-to-ovarian-cancer-current-insights-and-future-directions
#13
Siddhartha P Kar, Andrew Berchuck, Simon A Gayther, Ellen L Goode, Kirsten B Moysich, Celeste Leigh Pearce, Susan J Ramus, Joellen M Schildkraut, Thomas A Sellers, Paul D P Pharoah
In this review, we summarize current progress in the genetic epidemiology of epithelial ovarian cancer (EOC), focusing exclusively on elucidating the role of common germline genetic variation in conferring susceptibility to EOC. We provide an overview of the more than 30 EOC risk loci identified to date by genome-wide association studies (GWAS) and describe the contribution of large-scale, cross-cancer type, custom genotyping projects such as the OncoArray and the Collaborative Oncological Gene-Environment Study to locus discovery and replication...
June 14, 2017: Cancer Epidemiology, Biomarkers & Prevention
https://www.readbyqxmd.com/read/28614354/maternal-prenatal-anxiety-and-child-comt-genotype-predict-working-memory-and-symptoms-of-adhd
#14
Kieran J O'Donnell, Vivette Glover, Jari Lahti, Marius Lahti, Rachel D Edgar, Katri Räikkönen, Thomas G O'Connor
Maternal prenatal anxiety is an important risk factor for altered child neurodevelopment but there is uncertainty concerning the biological mechanisms involved and sources of individual differences in children's responses. We sought to determine the role of functional genetic variation in COMT, which encodes catechol-O-methyltransferase, in the association between maternal prenatal anxiety and child symptoms of ADHD and working memory. We used the prospectively-designed ALSPAC cohort (n = 6,969) for our primary data analyses followed by replication analyses in the PREDO cohort (n = 425)...
2017: PloS One
https://www.readbyqxmd.com/read/28614350/ranking-and-characterization-of-established-bmi-and-lipid-associated-loci-as-candidates-for-gene-environment-interactions
#15
Dmitry Shungin, Wei Q Deng, Tibor V Varga, Jian'an Luan, Evelin Mihailov, Andres Metspalu, Andrew P Morris, Nita G Forouhi, Cecilia Lindgren, Patrik K E Magnusson, Nancy L Pedersen, Göran Hallmans, Audrey Y Chu, Anne E Justice, Mariaelisa Graff, Thomas W Winkler, Lynda M Rose, Claudia Langenberg, L Adrienne Cupples, Paul M Ridker, Nicholas J Wareham, Ken K Ong, Ruth J F Loos, Daniel I Chasman, Erik Ingelsson, Tuomas O Kilpeläinen, Robert A Scott, Reedik Mägi, Guillaume Paré, Paul W Franks
Phenotypic variance heterogeneity across genotypes at a single nucleotide polymorphism (SNP) may reflect underlying gene-environment (G×E) or gene-gene interactions. We modeled variance heterogeneity for blood lipids and BMI in up to 44,211 participants and investigated relationships between variance effects (Pv), G×E interaction effects (with smoking and physical activity), and marginal genetic effects (Pm). Correlations between Pv and Pm were stronger for SNPs with established marginal effects (Spearman's ρ = 0...
June 14, 2017: PLoS Genetics
https://www.readbyqxmd.com/read/28614305/bap1-regulates-ip3r3-mediated-ca-2-flux-to-mitochondria-suppressing-cell-transformation
#16
Angela Bononi, Carlotta Giorgi, Simone Patergnani, David Larson, Kaitlyn Verbruggen, Mika Tanji, Laura Pellegrini, Valentina Signorato, Federica Olivetto, Sandra Pastorino, Masaki Nasu, Andrea Napolitano, Giovanni Gaudino, Paul Morris, Greg Sakamoto, Laura K Ferris, Alberto Danese, Andrea Raimondi, Carlo Tacchetti, Shafi Kuchay, Harvey I Pass, El Bachir Affar, Haining Yang, Paolo Pinton, Michele Carbone
BRCA1-associated protein 1 (BAP1) is a potent tumour suppressor gene that modulates environmental carcinogenesis. All carriers of inherited heterozygous germline BAP1-inactivating mutations (BAP1(+/-)) developed one and often several BAP1(-/-) malignancies in their lifetime, mostly malignant mesothelioma, uveal melanoma, and so on. Moreover, BAP1-acquired biallelic mutations are frequent in human cancers. BAP1 tumour suppressor activity has been attributed to its nuclear localization, where it helps to maintain genome integrity...
June 14, 2017: Nature
https://www.readbyqxmd.com/read/28612048/obesity-accelerates-alzheimer-related-pathology-in-apoe4-but-not-apoe3-mice
#17
V Alexandra Moser, Christian J Pike
Alzheimer's disease (AD) risk is modified by both genetic and environmental risk factors, which are believed to interact to cooperatively modify pathogenesis. Although numerous genetic and environmental risk factors for AD have been identified, relatively little is known about potential gene-environment interactions in regulating disease risk. The strongest genetic risk factor for late-onset AD is the ε4 allele of apolipoprotein E (APOE4). An important modifiable risk factor for AD is obesity, which has been shown to increase AD risk in humans and accelerate development of AD-related pathology in rodent models...
May 2017: ENeuro
https://www.readbyqxmd.com/read/28608743/obsessive-compulsive-disorder-which-genes-which-functions-which-pathways-an-integrated-holistic-view-regarding-ocd-and-its-complex-genetic-etiology
#18
Ali Bozorgmehr, Mohammad Ghadirivasfi, Esmaeil Shahsavand Ananloo
Obsessive-compulsive disorder (OCD) is characterized by recurrent obtrusive and repetitive acts typically occurred following anxiety. In the last two decades, studies done on the gene sequences, large-scale and point mutations and gene-gene, gene-environment and gene-drug interactions have led to the discovery of hundreds of genes associated with OCD. Although each gene in turn is a part of the etiology of this disorder; however, OCD, like other mental disorders is complex and a comprehensive and integrated view is necessary to understand its genetic basis...
June 13, 2017: Journal of Neurogenetics
https://www.readbyqxmd.com/read/28606218/dietary-supplement-use-in-the-older-population-of-iceland-and-association-with-mortality
#19
Birta Ólafsdóttir, Ingibjörg Gunnarsdóttir, Hjálmfríður Nikulásdóttir, Guðný Eiríksdóttir, Tamara B Harris, Lenore J Launer, Vilmundur Guðnason, Thórhallur I Halldórsson, Kristjana Einarsdóttir
Dietary supplements are often used by the elderly to improve their nutritional status. However, intake above the recommended dietary levels may be detrimental, and uncertainty exists on the potential health benefits of supplementation in this population. The aim of this study was to describe supplement use among Icelandic older adults and to assess its association with total mortality and CVD-related mortality. This study used data from the Age Gene/Environment Susceptibility-Reykjavik study, which recruited 5764 participants aged 66-98 years in 2002-2006...
June 13, 2017: British Journal of Nutrition
https://www.readbyqxmd.com/read/28606108/detection-of-gene-environment-interactions-in-the-presence-of-linkage-disequilibrium-and-noise-by-using-genetic-risk-scores-with-internal-weights-from-elastic-net-regression
#20
Anke Hüls, Katja Ickstadt, Tamara Schikowski, Ursula Krämer
BACKGROUND: For the analysis of gene-environment (GxE) interactions commonly single nucleotide polymorphisms (SNPs) are used to characterize genetic susceptibility, an approach that mostly lacks power and has poor reproducibility. One promising approach to overcome this problem might be the use of weighted genetic risk scores (GRS), which are defined as weighted sums of risk alleles of gene variants. The gold-standard is to use external weights from published meta-analyses. METHODS: In this study, we used internal weights from the marginal genetic effects of the SNPs estimated by a multivariate elastic net regression and thereby provided a method that can be used if there are no external weights available...
June 12, 2017: BMC Genetics
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