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https://www.readbyqxmd.com/read/28110272/mitonuclear-interactions-mediate-transcriptional-responses-to-hypoxia-in-drosophila
#1
Jim A Mossman, Jennifer G Tross, Nick A Jourjine, Nan Li, Zhijin Wu, David M Rand
Among the major challenges in quantitative genetics and personalized medicine is to understand how gene × gene interactions (G × G: epistasis) and gene × environment interactions (G × E) underlie phenotypic variation. Here, we use the intimate relationship between mitochondria and oxygen availability to dissect the roles of nuclear DNA (nDNA) variation, mitochondrial DNA (mtDNA) variation, hypoxia, and their interactions on gene expression in Drosophila melanogaster Mitochondria provide an important evolutionary and medical context for understanding G × G and G × E given their central role in integrating cellular signals...
November 14, 2016: Molecular Biology and Evolution
https://www.readbyqxmd.com/read/28105795/the-missing-omes-proposing-social-and-environmental-nomenclature-in-precision-medicine
#2
Matthew M Davis, Thomas P Shanley
In principle, precision medicine incorporates disease prevention and treatment that takes into account individual differences in people's genes, environments, and lifestyles. In practice, research regarding genes attracts more attention and resources than research focused on environments and lifestyles. Such progress-hindering asymmetry may be related to dissimilar naming conventions across scientific domains. We propose a novel "-ome"-based nomenclature that incorporates known social and environmental determinants of human health, and thereby reflects evidence across the full spectrum of scientific endeavors in precision medicine...
January 19, 2017: Clinical and Translational Science
https://www.readbyqxmd.com/read/28102561/stressful-life-events-and-catechol-o-methyl-transferase-comt-gene-in-bipolar-disorder
#3
Georgina M Hosang, Helen L Fisher, Sarah Cohen-Woods, Peter McGuffin, Anne E Farmer
BACKGROUND: A small body of research suggests that gene-environment interactions play an important role in the development of bipolar disorder. The aim of the present study is to contribute to this work by exploring the relationship between stressful life events and the catechol-O-methyl-transferase (COMT) Val(158) Met polymorphism in bipolar disorder. METHODS: Four hundred eighty-two bipolar cases and 205 psychiatrically healthy controls completed the List of Threatening Experiences Questionnaire...
January 19, 2017: Depression and Anxiety
https://www.readbyqxmd.com/read/28087565/perturbation-of-retinoid-homeostasis-increases-malformation-risk-in-embryos-exposed-to-pregestational-diabetes
#4
Leo M Y Lee, Maran B W Leung, Rachel C Y Kwok, Yun-Chung Leung, Chi-Chiu Wang, Peter J McCaffery, Andrew J Copp, Alisa S W Shum
Pregestational diabetes is highly associated with increased risk of birth defects. However, factors that can increase or reduce expressivity and penetrance of malformations in diabetic pregnancies remain poorly identified. All-trans retinoic acid (RA) plays crucial roles in embryogenesis. Here, we find that Cyp26a1, which encodes a key enzyme for catabolic inactivation of RA required for tight control of local RA concentrations, is significantly down-regulated in embryos of diabetic mice. Embryonic tissues expressing Cyp26a1 show reduced efficiency of RA clearance...
January 13, 2017: Diabetes
https://www.readbyqxmd.com/read/28086795/atherosclerotic-and-thrombotic-genetic-and-environmental-determinants-in-egyptian-coronary-artery-disease-patients-a-pilot-study
#5
Manal S Fawzy, Eman A Toraih, Nagwa M Aly, Abeer Fakhr-Eldeen, Dahlia I Badran, Mohammad H Hussein
BACKGROUND: Coronary artery disease (CAD) is the leading cause of morbidity and mortality worldwide. Multiple genetic variants in combination with various environmental risk factors have been implicated. This study aimed to investigate the association of twelve thrombotic and atherosclerotic gene variants in combination with other environmental risk factors with CAD risk in a preliminary sample of Egyptian CAD patients. METHODS: Twenty three consecutive CAD patients undergoing diagnostic coronary angiography and 34 unrelated controls, have been enrolled in the study...
January 13, 2017: BMC Cardiovascular Disorders
https://www.readbyqxmd.com/read/28081251/physical-activity-and-sedentary-behaviors-modify-the-association-between-melanocortin-4-receptor-gene-variant-and-obesity-in-chinese-children-and-adolescents
#6
Jie-Yun Song, Qi-Ying Song, Shuo Wang, Jun Ma, Hai-Jun Wang
Effects of MC4R variants in previous Chinese population studies were inconsistent. Gene-environment interactions might influence the effect of MC4R variants on obesity, which was still unclear. We performed the study to clarify the association of variants near MC4R gene with obesity-related phenotypes and gene-environment interactions in Chinese children and adolescents. Two common variants (rs12970134 and rs17782313) near MC4R were genotyped in 2179 children and adolescents aged 7-18 years in Beijing of China...
2017: PloS One
https://www.readbyqxmd.com/read/28079614/the-role-of-gene-environment-interplay-in-occupational-and-environmental-diseases-current-concepts-and-knowledge-gaps
#7
Elizabeth Kwo, David Christiani
PURPOSE OF REVIEW: The interplay between genetic susceptibilities and environmental exposures in the pathogenesis of a variety of diseases is an area of increased scientific, epidemiologic, and social interest. Given the variation in methodologies used in the field, this review aims to create a framework to help understand occupational exposures as they currently exist and provide a foundation for future inquiries into the biological mechanisms of the gene-environment interactions. Understanding of this complex interplay will be important in the context of occupational health, given the public health concerns surrounding a variety of occupational exposures...
January 11, 2017: Current Opinion in Pulmonary Medicine
https://www.readbyqxmd.com/read/28073954/gene-obesogenic-environment-interactions-in-the-uk-biobank-study
#8
Jessica Tyrrell, Andrew R Wood, Ryan M Ames, Hanieh Yaghootkar, Robin N Beaumont, Samuel E Jones, Marcus A Tuke, Katherine S Ruth, Rachel M Freathy, George Davey Smith, Stéphane Joost, Idris Guessous, Anna Murray, David P Strachan, Zoltán Kutalik, Michael N Weedon, Timothy M Frayling
BACKGROUND: Previous studies have suggested that modern obesogenic environments accentuate the genetic risk of obesity. However, these studies have proven controversial as to which, if any, measures of the environment accentuate genetic susceptibility to high body mass index (BMI). METHODS: We used up to 120 000 adults from the UK Biobank study to test the hypothesis that high-risk obesogenic environments and behaviours accentuate genetic susceptibility to obesity...
January 10, 2017: International Journal of Epidemiology
https://www.readbyqxmd.com/read/28071748/nrf2-regulates-gene-environment-interactions-in-an-animal-model-of-intrauterine-inflammation-implications-for-preterm-birth-and-prematurity
#9
Thomas E Sussan, Kuladeep Sudini, C Conover Talbot, Xiaobin Wang, Marsha Wills-Karp, Irina Burd, Shyam Biswal
Preterm birth (PTB) is the leading cause of neonatal mortality, and surviving infants are at increased risk for lifelong disabilities. Intrauterine inflammation is an etiological factor that drives PTB, and oxidative stress is associated with PTB. Nuclear erythroid 2-related factor 2 (Nrf2) is a redox-sensitive transcription factor that is the key regulator of the response to oxidative and inflammatory stress. Here, we used the established mouse model of intrauterine inflammation-induced PTB to determine whether Nrf2 is a modifier of susceptibility to PTB and prematurity-related morbidity and mortality in the offspring...
January 10, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28069425/an-epigenome-wide-association-study-of-total-serum-immunoglobulin-e-in-hispanic-children
#10
Wei Chen, Ting Wang, Maria Pino-Yanes, Erick Forno, Liming Liang, Qi Yan, Donglei Hu, Daniel E Weeks, Andrea Baccarelli, Edna Acosta-Perez, Celeste Eng, Yueh-Ying Han, Nadia Boutaoui, Catherine Laprise, Gwyneth A Davies, Julian M Hopkin, Miriam F Moffatt, William O C M Cookson, Glorisa Canino, Esteban G Burchard, Juan C Celedón
BACKGROUND: Total immunoglobulin E (IgE) is a therapeutic target in allergic diseases. DNA methylation in white blood cells (WBCs) was associated with total IgE in an epigenome-wide association study (EWAS) of Caucasians. Whether DNA methylation of eosinophils explains those findings is insufficiently understood. METHODS: We tested for association between genome-wide DNA methylation in WBCs and total IgE in two studies of Hispanic children: the Puerto Rico Genetics of Asthma and Lifestyle Study (PR-GOAL, n = 306) and the Genes-environments and Admixture in Latino Americans (GALA II, n = 573)...
January 6, 2017: Journal of Allergy and Clinical Immunology
https://www.readbyqxmd.com/read/28061811/the-nature-and-nurture-of-cell-heterogeneity-accounting-for-macrophage-gene-environment-interactions-with-single-cell-rna-seq
#11
Quin F Wills, Esther Mellado-Gomez, Rory Nolan, Damien Warner, Eshita Sharma, John Broxholme, Benjamin Wright, Helen Lockstone, William James, Mark Lynch, Michael Gonzales, Jay West, Anne Leyrat, Sergi Padilla-Parra, Sarah Filippi, Chris Holmes, Michael D Moore, Rory Bowden
BACKGROUND: Single-cell RNA-Seq can be a valuable and unbiased tool to dissect cellular heterogeneity, despite the transcriptome's limitations in describing higher functional phenotypes and protein events. Perhaps the most important shortfall with transcriptomic 'snapshots' of cell populations is that they risk being descriptive, only cataloging heterogeneity at one point in time, and without microenvironmental context. Studying the genetic ('nature') and environmental ('nurture') modifiers of heterogeneity, and how cell population dynamics unfold over time in response to these modifiers is key when studying highly plastic cells such as macrophages...
January 7, 2017: BMC Genomics
https://www.readbyqxmd.com/read/28057877/previous-miscarriages-and-gli2-are-associated-with-anorectal-malformations-in-offspring
#12
Romy van de Putte, Charlotte H W Wijers, Ivo de Blaauw, Carlo L M Marcelis, Cornelius E J Sloots, Alice S Brooks, Paul M A Broens, Nel Roeleveld, Loes F M van der Zanden, Iris A L M van Rooij
STUDY QUESTION: Are anorectal malformations (ARMs) associated with previous miscarriages or single nucleotide polymorphisms (SNPs) in the Bone Morphogenetic Protein 4 (BMP4) and GLI family zinc finger 2 (GLI2) genes? SUMMARY ANSWER: The SNP rs3738880 in GLI2 and miscarriages were associated with ARM, especially in patients with multiple congenital anomalies (MCA). WHAT IS KNOWN ALREADY: ARM are one of the most common birth defects of the gastrointestinal tract...
January 5, 2017: Human Reproduction
https://www.readbyqxmd.com/read/28057378/beneficial-effect-of-cetp-gene-polymorphism-in-combination-with-a-mediterranean-diet-influencing-lipid-metabolism-in-metabolic-syndrome-patients-cordioprev-study
#13
Antonio Garcia-Rios, Juan Francisco Alcala-Diaz, Francisco Gomez-Delgado, Javier Delgado-Lista, Carmen Marin, Ana Leon-Acuña, Antonio Camargo, Fernando Rodriguez-Cantalejo, Ruth Blanco-Rojo, Gracia Quintana-Navarro, Jose Maria Ordovas, Francisco Perez-Jimenez, Jose Lopez-Miranda, Pablo Perez-Martinez
The cholesteryl ester transfer protein (CETP) gene has been implicated in high-density lipoprotein (HDL-C) metabolism. However, little is known about the impact of this gene on metabolic syndrome (MetS) patients and its interaction with diet. Here, we evaluate whether the consumption of a Mediterranean diet, compared with a Low-fat diet, interacts with the rs3764261 SNP at the CETP locus to modify lipid metabolism in MetS patients. Plasma lipid concentrations and rs3764261 genotypes were determined in 424 MetS subjects participating in the CORDIOPREV clinical trial (NCT00924937)...
December 24, 2016: Clinical Nutrition: Official Journal of the European Society of Parenteral and Enteral Nutrition
https://www.readbyqxmd.com/read/28057301/axgxe-using-flies-to-interrogate-the-complex-etiology-of-neurodegenerative-disease
#14
C Burke, K Trinh, V Nadar, S Sanyal
Progressive and late-onset neurological disorders such as Parkinson's disease and Alzheimer's disease affect up to 50 million people globally-a number postulated to double every 20 years in a continually aging population. While predisposing allelic variants in several genes clearly confer risk, individual age and specific environmental influences are equally important discriminators of disease onset age and progression. However, none of these factors can independently predict disease with significant precision...
2017: Current Topics in Developmental Biology
https://www.readbyqxmd.com/read/28049237/the-foxo1-gene-obesity-interaction-increases-the-risk-of-type-2-diabetes-mellitus-in-a-chinese-han-population
#15
Lilin Gong, Rong Li, Wei Ren, Zengchan Wang, Zhihong Wang, Maosheng Yang, Suhua Zhang
Here, we aimed to study the effect of the forkhead box O1-insulin receptor substrate 2 (FOXO1-IRS2) gene interaction and the FOXO1 and IRS2 genes-environment interaction for the risk of type 2 diabetes mellitus (T2DM) in a Chinese Han population. We genotyped 7 polymorphism sites of FOXO1 gene and IRS2 gene in 780 unrelated Chinese Han people (474 cases of T2DM, 306 cases of healthy control). The risk of T2DM in individuals with AA genotype for rs7986407 and CC genotype for rs4581585 in FOXO1 gene was 2.092 and 2...
February 2017: Journal of Korean Medical Science
https://www.readbyqxmd.com/read/28046103/transcriptome-profiling-identifies-ribosome-biogenesis-as-a-target-of-alcohol-teratogenicity-and-vulnerability-during-early-embryogenesis
#16
Mark E Berres, Ana Garic, George R Flentke, Susan M Smith
Fetal alcohol spectrum disorder (FASD) is a leading cause of neurodevelopmental disability. Individuals with FASD may exhibit a characteristic facial appearance that has diagnostic utility. The mechanism by which alcohol disrupts craniofacial development is incompletely understood, as are the genetic factors that can modify individual alcohol vulnerability. Using an established avian model, we characterized the cranial transcriptome in response to alcohol to inform the mechanism underlying these cells' vulnerability...
2017: PloS One
https://www.readbyqxmd.com/read/28040447/demographics-phenotypic-health-characteristics-and-genetic-analysis-of-centenarians-in-china
#17
REVIEW
Yi Zeng, Qiushi Feng, Danan Gu, James W Vaupel
After a brief introduction to the background, significance and unique features of the centenarian population in China, we describe the Chinese Longitudinal Healthy Longevity Study (CLHLS), which is the world's largest study of centenarians, nonagenarians, octogenarians, and compatible young-old aged 65-79. Based on the CLHLS data and other relevant studies, we summarize demographic and socioeconomic characteristics as well as self-reported and objectively-tested health indicators of centenarians in China, with an emphasis on gender differences and rural/urban disparities...
December 28, 2016: Mechanisms of Ageing and Development
https://www.readbyqxmd.com/read/28027955/oxytocin-pathways-in-the-intergenerational-transmission-of-maternal-early-life-stress
#18
REVIEW
Philipp Toepfer, Christine Heim, Sonja Entringer, Elisabeth Binder, Pathik Wadhwa, Claudia Buss
Severe stress in early life, such as childhood abuse and neglect, constitutes a major risk factor in the etiology of psychiatric disorders and somatic diseases. Importantly, these long-term effects may impact the next generation. The intergenerational transmission of maternal early life stress (ELS) may occur via pre-and postnatal pathways, such as alterations in maternal-fetal-placental stress physiology, maternal depression during pregnancy and postpartum, as well as impaired mother-offspring interactions...
December 24, 2016: Neuroscience and Biobehavioral Reviews
https://www.readbyqxmd.com/read/28024274/heterogeneity-in-hpa-axis-dysregulation-and-serotonergic-vulnerability-to-depression
#19
Marie-Laure Ancelin, Jacqueline Scali, Joanna Norton, Karen Ritchie, Anne-Marie Dupuy, Isabelle Chaudieu, Joanne Ryan
Variability in the serotonin transporter (5-HTTLPR) gene can influence the risk of depression associated with adversity, as well as cortisol stress reactivity, although not consistently. No study has examined the impact of both a stressful environment and corticotropic-axis dysfunction on depression, as a function of 5-HTTLPR. This population-based study included 334 subjects aged 65 and older. Depression was measured at both diagnostic (major depression according to DSM-IV) and symptomatic (subthreshold depression) levels of caseness, in addition to 5-HTTLPR and rs25531 genotyping and diurnal cortisol measures...
December 5, 2016: Psychoneuroendocrinology
https://www.readbyqxmd.com/read/28018145/epigenetics-of-renal-development-and-disease
#20
REVIEW
Sylvia A Hilliard, Samir S El-Dahr
An understanding of epigenetics is indispensable to our understanding of gene regulation under normal and pathological states. This knowledge will help with designing better therapeutic approaches in regenerative tissue medicine. Epigenetics allows us to parse out the mechanisms by which transcriptional regulators gain access to specific gene loci thereby imprinting epigenetic information affecting chromatin function. This epigenetic memory forms the basis of cell lineage specification in multicellular organisms...
December 2016: Yale Journal of Biology and Medicine
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