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Genomics and Obesity

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https://www.readbyqxmd.com/read/28633944/gene-expression-analysis-identify-a-metabolic-and-cell-function-alterations-as-a-hallmark-of-obesity-without-metabolic-syndrome-in-peripheral-blood-a-pilot-study
#1
Daniel Antonio de Luis, Raquel Almansa, Rocío Aller, Olatz Izaola, E Romero
BACKGROUND: Understanding molecular basis involved in overweight is an important first step in developing therapeutic pathways against excess in body weight gain. OBJECTIVE: The purpose of our pilot study was to evaluate the gene expression profiles in the peripheral blood of obese patients without other metabolic complications. DESIGN: A sample of 17 obese patients without metabolic syndrome and 15 non obese control subjects was evaluated in a prospective way...
June 10, 2017: Clinical Nutrition: Official Journal of the European Society of Parenteral and Enteral Nutrition
https://www.readbyqxmd.com/read/28631899/dual-molecular-diagnosis-contributes-to-atypical-prader-willi-phenotype-in-monozygotic-twins
#2
Fernanda S Jehee, Valdirene T de Oliveira, Juliana Gurgel-Giannetti, Rafaella X Pietra, Fernando V M Rubatino, Natália V Carobin, Gabrielle S Vianna, Mariana L de Freitas, Karla S Fernandes, Beatriz S V Ribeiro, Hennie T Brüggenwirth, Roza Ali-Amin, Janson J White, Zeynep C Akdemir, Shalini N Jhangiani, Richard A Gibbs, James R Lupski, Monica C Varela, Célia Koiffmann, Carla Rosenberg, Cláudia M B Carvalho
We describe monozygotic twin girls with genetic variation at two separate loci resulting in a blended phenotype of Prader-Willi syndrome and Pitt-Hopkins syndrome. These girls were diagnosed in early infancy with Prader-Willi syndrome, but developed an atypical phenotype, with apparent intellectual deficiency and lack of obesity. Array-comparative genomic hybridization confirmed a de novo paternal deletion of the 15q11.2q13 region and exome sequencing identified a second mutational event in both girls, which was a novel variant c...
June 20, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28628359/the-genetic-basis-for-sex-differences-in-obesity-and-lipid-metabolism
#3
Jenny C Link, Karen Reue
Men and women exhibit significant differences in obesity, cardiovascular disease, and diabetes. To provide better diagnosis and treatment for both sexes, it is important to identify factors that underlie the observed sex differences. Traditionally, sex differences have been attributed to the differential effects of male and female gonadal secretions (commonly referred to as sex hormones), which substantially influence many aspects of metabolism and related diseases. Less appreciated as a contributor to sex differences are the fundamental genetic differences between males and females, which are ultimately determined by the presence of an XX or XY sex chromosome complement...
June 19, 2017: Annual Review of Nutrition
https://www.readbyqxmd.com/read/28628102/regulation-of-body-weight-and-energy-homeostasis-by-neuronal-cell-adhesion-molecule-1
#4
Thomas Rathjen, Xin Yan, Natalia L Kononenko, Min-Chi Ku, Kun Song, Leiron Ferrarese, Valentina Tarallo, Dmytro Puchkov, Gaga Kochlamazashvili, Sebastian Brachs, Luis Varela, Klara Szigeti-Buck, Chun-Xia Yi, Sonja C Schriever, Sudhir Gopal Tattikota, Anne Sophie Carlo, Mirko Moroni, Jan Siemens, Arnd Heuser, Louise van der Weyden, Andreas L Birkenfeld, Thoralf Niendorf, James F A Poulet, Tamas L Horvath, Matthias H Tschöp, Matthias Heinig, Mirko Trajkovski, Volker Haucke, Matthew N Poy
Susceptibility to obesity is linked to genes regulating neurotransmission, pancreatic beta-cell function and energy homeostasis. Genome-wide association studies have identified associations between body mass index and two loci near cell adhesion molecule 1 (CADM1) and cell adhesion molecule 2 (CADM2), which encode membrane proteins that mediate synaptic assembly. We found that these respective risk variants associate with increased CADM1 and CADM2 expression in the hypothalamus of human subjects. Expression of both genes was elevated in obese mice, and induction of Cadm1 in excitatory neurons facilitated weight gain while exacerbating energy expenditure...
June 19, 2017: Nature Neuroscience
https://www.readbyqxmd.com/read/28626070/potential-susceptibility-loci-identified-for-renal-cell-carcinoma-by-targeting-obesity-related-genes
#5
Xiang Shu, Mark P Purdue, Yuanqing Ye, Huakang Tu, Christopher G Wood, Nizar M Tannir, Zhaoming Wang, Demetrius Albanes, Susan M Gapstur, Victoria L Stevens, Nathaniel Rothman, Stephen J Chanock, Xifeng Wu
BACKGROUND: Obesity is an established risk factor for renal cell carcinoma (RCC). Although genome-wide association studies (GWAS) of RCC have identified several susceptibility loci, additional variants might be missed due to the highly conservative selection. METHODS: We conducted a multiphase study utilizing three independent genome-wide scans at MD Anderson Cancer Center (MDA RCC GWAS and MDA RCC OncoArray) and National Cancer Institute (NCI RCC GWAS), which consisted of a total of 3,530 cases and 5,714 controls, to investigate genetic variations in obesity-related genes and RCC risk...
June 16, 2017: Cancer Epidemiology, Biomarkers & Prevention
https://www.readbyqxmd.com/read/28624884/age-at-menarche-and-lung-function-a-mendelian-randomization-study
#6
Dipender Gill, Nuala A Sheehan, Matthias Wielscher, Nick Shrine, Andre F S Amaral, John R Thompson, Raquel Granell, Bénédicte Leynaert, Francisco Gómez Real, Ian P Hall, Martin D Tobin, Juha Auvinen, Susan M Ring, Marjo-Riitta Jarvelin, Louise V Wain, John Henderson, Deborah Jarvis, Cosetta Minelli
A trend towards earlier menarche in women has been associated with childhood factors (e.g. obesity) and hypothesised environmental exposures (e.g. endocrine disruptors present in household products). Observational evidence has shown detrimental effects of early menarche on various health outcomes including adult lung function, but these might represent spurious associations due to confounding. To address this we used Mendelian randomization where genetic variants are used as proxies for age at menarche, since genetic associations are not affected by classical confounding...
June 17, 2017: European Journal of Epidemiology
https://www.readbyqxmd.com/read/28621701/epigenetics-insights-into-chronic-pain-dna-hypomethylation-in-fibromyalgia-a-controlled-pilot-study
#7
Daniel Ciampi de Andrade, Mariana Maschietto, Ricardo Galhardoni, Gisele Gouveia, Thais Chile, Ana C Victorino Krepischi, Camila S Dale, André R Brunoni, Daniella C Parravano, Ana S Cueva Moscoso, Irina Raicher, Helena H S Kaziyama, Manoel J Teixeira, Helena P Brentani
To evaluate changes in DNA methylation profiles in patients with fibromyalgia (FM) compared to matched healthy controls (HCs). All individuals underwent full clinical and neurophysiological assessment by cortical excitability (CE) parameters measured by transcranial magnetic stimulation. DNA from the peripheral blood of patients with FM (n = 24) and HC (n = 24) were assessed using the Illumina-HumanMethylation450 BeadChips. We identified 1610 differentially methylated positions (DMPs) in patients with FM displaying a nonrandom distribution in regions of the genome...
June 15, 2017: Pain
https://www.readbyqxmd.com/read/28615046/the-association-of-insertions-deletions-indels-and-variable-number-tandem-repeats-vntrs-with-obesity-and-its-related-traits-and-complications
#8
REVIEW
Yee-How Say
BACKGROUND: Despite the fact that insertions/deletions (INDELs) are the second most common type of genetic variations and variable number tandem repeats (VNTRs) represent a large portion of the human genome, they have received far less attention than single nucleotide polymorphisms (SNPs) and larger forms of structural variation like copy number variations (CNVs), especially in genome-wide association studies (GWAS) of complex diseases like polygenic obesity. This is exemplified by the vast amount of review papers on the role of SNPs and CNVs in obesity, its related traits (like anthropometric measurements, biochemical variables, and eating behavior), and its related complications (like hypertension, hypertriglyceridemia, hypercholesterolemia, and insulin resistance-collectively known as metabolic syndrome)...
June 14, 2017: Journal of Physiological Anthropology
https://www.readbyqxmd.com/read/28614626/ptprs-and-per3-methylation-levels-are-associated-with-childhood-obesity-results-from-a-genome-wide-methylation-analysis
#9
M Samblas, F I Milagro, M L Mansego, A Marti, J A Martinez
BACKGROUND: The global prevalence of childhood overweight and obesity has increased in the last years. Epigenetic dysregulation affecting gene expression could be a determinant in early-life obesity onset and accompanying complications. OBJECTIVE: The aim of the present investigation was to analyse the putative association between DNA methylation and childhood obesity. METHODS: DNA was isolated from white blood cells of 24 children obtained from the GENOI study and was hybridized in a 450K methylation array...
June 14, 2017: Pediatric Obesity
https://www.readbyqxmd.com/read/28612549/-precision-medicine-in-obesity-research-and-practice
#10
REVIEW
She-Yu Li, Shuang-Qing Li
Obesity now already becomes a critical health problem in our country and the world. Since the genomic and biochemical technology has developed in the era of precision medicine, great progression has been achieved in the field of obesity research and clinical practice. Obesity is considered to be a series of diseases with high heterogeneity beyond expectations, which brings up the challenges on its diagnosis and classification. Predictive models for obesity remain absent in clinical practice and commercial use...
January 2017: Sichuan da Xue Xue Bao. Yi Xue Ban, Journal of Sichuan University. Medical Science Edition
https://www.readbyqxmd.com/read/28605459/copy-number-variants-are-enriched-in-individuals-with-early-onset-obesity-and-highlight-novel-pathogenic-pathways
#11
Maria Pettersson, Heli Viljakainen, Petra Loid, Taina Mustila, Minna Pekkinen, Miriam Armenio, Johanna C Andersson-Assarsson, Outi Mäkitie, Anna Lindstrand
Context: Only a handful of genetic causes for childhood obesity have been identified to date. Copy number variants (CNVs) are known to contribute to obesity, both syndromic (15q11.2 deletions, Prader-Willi syndrome) and non-syndromic (16p11.2 deletions) obesity. Objective: To study the contribution of CNVs to early-onset obesity and evaluate the expression of candidate genes in subcutaneous adipose tissue. Design and Setting: A case-control study in a tertiary academic center...
June 12, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28602932/postzygotic-telomere-capture-causes-segmental-upd-duplication-and-deletion-of-chromosome-8p-in-a-patient-with-intellectual-disability-and-obesity
#12
Jeroen Knijnenburg, Madiek E W Uytdewilligen, Daniella A C M van Hassel, Rianne Oostenbrink, Bert H J Eussen, Annelies de Klein, Alice S Brooks, Laura J C M van Zutven
Using SNP array and FISH analysis, a patient with moderate intellectual disability and obesity was found to harbour an atypical 1.6 Mb inverted duplication on 8p23.1, directly flanked by a distally located interstitial deletion of 2.3 Mb and a terminal segmental uniparental disomy. The duplicated and deleted regions lie exactly between the two segmental duplication regions. These segmental duplications on chromosome 8p23.1 are known to be involved in chromosomal rearrangements because of mutual homology and homology to other genomic regions...
June 8, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28598419/genome-wide-approach-identifies-a-novel-gene-maternal-pre-pregnancy-bmi-interaction-on-preterm-birth
#13
Xiumei Hong, Ke Hao, Hongkai Ji, Shouneng Peng, Ben Sherwood, Antonio Di Narzo, Hui-Ju Tsai, Xin Liu, Irina Burd, Guoying Wang, Yuelong Ji, Deanna Caruso, Guangyun Mao, Tami R Bartell, Zhongyang Zhang, Colleen Pearson, Linda Heffner, Sandra Cerda, Terri H Beaty, M Daniele Fallin, Aviva Lee-Parritz, Barry Zuckerman, Daniel E Weeks, Xiaobin Wang
Preterm birth (PTB) contributes significantly to infant mortality and morbidity with lifelong impact. Few robust genetic factors of PTB have been identified. Such 'missing heritability' may be partly due to gene × environment interactions (G × E), which is largely unexplored. Here we conduct genome-wide G × E analyses of PTB in 1,733 African-American women (698 mothers of PTB; 1,035 of term birth) from the Boston Birth Cohort. We show that maternal COL24A1 variants have a significant genome-wide interaction with maternal pre-pregnancy overweight/obesity on PTB risk, with rs11161721 (PG × E=1...
June 9, 2017: Nature Communications
https://www.readbyqxmd.com/read/28588434/maternal-uniparental-disomy-14-temple-syndrome-as-a-result-of-a-robertsonian-translocation
#14
Veronica Bertini, Antonella Fogli, Rossella Bruno, Alessia Azzarà, Angela Michelucci, Teresa Mattina, Silvano Bertelloni, Angelo Valetto
Maternal uniparental disomy of chromosome 14 (upd(14)mat) or Temple syndrome is an imprinting disorder associated with a relatively mild phenotype. The absence of specific congenital malformations makes this condition underdiagnosed in clinical practice. A boy with a de novo robertsonian translocation 45,XY,rob(13;14)(q10;q10) is reported; a CGH/SNP array showed a loss of heterozygosity in 14q11.2q13.1. The final diagnosis of upd(14)mat was made by microsatellite analysis, which showed a combination of heterodisomy and isodisomy for different regions of chromosome 14...
May 2017: Molecular Syndromology
https://www.readbyqxmd.com/read/28585212/lipotoxicity-related-hematological-disorders-in-obesity
#15
Ibrahim Celalettin Haznedaroglu, Umit Yavuz Malkan
Lipotoxicity can mediate endothelial dysfunction in obesity. Altered endothelial cell phenotype during the pathobiological course of the lipotoxicity may lead to the hemostatic abnormalities, which is a hallmark of several hematological disorders. Impaired hemostasis could also be directly related to the numerous metabolic diseases such as hypertension, diabetes and atherosclerosis. On the other hand, local hematopoietic bone marrow (BM) renin-angiotensin system (RAS) contributes to the development of atherosclerosis via acting on the lipotoxicity processes...
2017: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/28584296/transcriptome-analysis-in-blood-cells-from-children-reveals-potential-early-biomarkers-of-metabolic-alterations
#16
J Sánchez, C Picó, W Ahrens, R Foraita, A Fraterman, L A Moreno, P Russo, A Siani, A Palou
OBJECTIVES: The development of effective strategies to prevent childhood obesity and its comorbidities requires new, reliable early biomarkers. Here, we aimed to identify in peripheral blood cells (PBCs) potential transcript-based biomarkers of unhealthy metabolic profile associated to overweight/obesity in children. METHODS: We performed a whole-genome microarray analysis in blood cells to identify genes differentially expressed between overweight and normal weight children to obtain novel transcript-based biomarkers predictive of metabolic complications...
June 6, 2017: International Journal of Obesity: Journal of the International Association for the Study of Obesity
https://www.readbyqxmd.com/read/28582822/high-consumption-of-salt-fermented-vegetables-and-hypertension-risk-in-adults-a-12-year-follow-up-study
#17
Hong Ji Song, Seon-Joo Park, Dae Ja Jang, Dae Young Kwon, Hae-Jeung Lee
BACKGROUND AND OBJECTIVES: The aim of this study was to investigate the causal relationship between high consumption of salt-fermented vegetables and hypertension risk in adults. METHODS AND STUDY DESIGN: Data came from the Korean Genome and Epidemiology Study, an ongoing community-based cohort study that began in 2001. In the final analysis, a total of 5,932 participants (men=2,822, women=3,110) was included. Daily energy, nutrient, and major salt-fermented vegetables for Korean (kimchi) intakes were assessed using a semi-quantitative food frequency questionnaire...
2017: Asia Pacific Journal of Clinical Nutrition
https://www.readbyqxmd.com/read/28579519/contributions-of-polygenic-risk-for-obesity-to-ptsd-related-metabolic-syndrome-and-cortical-thickness
#18
Erika J Wolf, Danielle R Miller, Mark W Logue, Jennifer Sumner, Tawni B Stoop, Elizabeth C Leritz, Jasmeet P Hayes, Annjanette Stone, Steven A Schichman, Regina E McGlinchey, William P Milberg, Mark W Miller
BACKGROUND: Research suggests that posttraumatic stress disorder (PTSD) is associated with metabolic syndrome (MetS) and that PTSD-associated MetS is related to decreased cortical thickness. However, the role of genetic factors in these associations is unclear. This study evaluated contributions of polygenic obesity risk and PTSD to MetS and of MetS and polygenic obesity risk to cortical thickness. METHODS: 196 white, non-Hispanic veterans of the wars in Iraq and Afghanistan underwent clinical diagnostic interviews, physiological assessments, and genome-wide genotyping; 168 also completed magnetic resonance imaging scans...
June 1, 2017: Brain, Behavior, and Immunity
https://www.readbyqxmd.com/read/28577936/association-between-dna-methylation-and-coronary-heart-disease-or-other-atherosclerotic-events-a-systematic-review
#19
REVIEW
Alba Fernández-Sanlés, Sergi Sayols-Baixeras, Isaac Subirana, Irene R Degano, Roberto Elosua
BACKGROUND AND AIMS: The aim of this study was to perform a systematic review of the association between DNA methylation and coronary heart disease (CHD) or related atherosclerotic traits. METHODS: A systematic review was designed. The condition of interest was DNA methylation, and the outcome was CHD or other atherosclerosis-related traits. Three DNA methylation approaches were considered: global methylation, candidate-gene, and epigenome-wide association studies (EWAS)...
May 18, 2017: Atherosclerosis
https://www.readbyqxmd.com/read/28576871/steap4-its-emerging-role-in-metabolism-and-homeostasis-of-cellular-iron-and-copper
#20
Rachel T Scarl, C Martin Lawrence, Hannah M Gordon, Craig S Nunemaker
Preserving energy homeostasis in the presence of stressors such as proinflammatory cytokines and nutrient overload is crucial to maintaining normal cellular function. Six-transmembrane epithelial antigen of the prostate 4 (STEAP4), a metalloreductase involved in iron and copper homeostasis, is thought to play a potentially important role in the cellular response to inflammatory stress. Genome-wide association studies have linked various mutations in STEAP4 with the development of metabolic disorders such as obesity, metabolic syndrome, and type 2 diabetes...
June 2, 2017: Journal of Endocrinology
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