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Genomics and Obesity

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https://www.readbyqxmd.com/read/28727777/8-oxoguanine-dna-glycosylase-ogg1-deficiency-elicits-coordinated-changes-in-lipid-and-mitochondrial-metabolism-in-muscle
#1
Vladimir Vartanian, Jana Tumova, Pawel Dobrzyn, Agnieszka Dobrzyn, Yusaku Nakabeppu, R Stephen Lloyd, Harini Sampath
Oxidative stress resulting from endogenous and exogenous sources causes damage to cellular components, including genomic and mitochondrial DNA. Oxidative DNA damage is primarily repaired via the base excision repair pathway that is initiated by DNA glycosylases. 8-oxoguanine DNA glycosylase (OGG1) recognizes and cleaves oxidized and ring-fragmented purines, including 8-oxoguanine, the most commonly formed oxidative DNA lesion. Mice lacking the OGG1 gene product are prone to multiple features of the metabolic syndrome, including high-fat diet-induced obesity, hepatic steatosis, and insulin resistance...
2017: PloS One
https://www.readbyqxmd.com/read/28724398/whole-genome-sequencing-identifies-a-novel-alms1-gene-mutation-in-two-chinese-siblings-with-alstr%C3%A3-m-syndrome
#2
Lin Yang, Zixiu Li, Mei Mei, Xiaomei Fan, Guodong Zhan, Huijun Wang, Guoying Huang, Mingbang Wang, Weidong Tian, Wenhao Zhou
BACKGROUND: Alström syndrome is a rare multi-systemic disorder with a broad spectrum of symptoms. This syndrome is characterized by childhood retinal degeneration; sensorineural hearing loss; obesity; type 2 diabetes mellitus; cardiomyopathy; systemic fibrosis; and pulmonary, hepatic, and renal failure. CASE PRESENTATION: A Chinese quartet family with two siblings predominantly affected by cone-rod dystrophy and short stature were recruited. The craniofacial dysmorphism and on-set age-of-cone-rod dystrophy in the proband showed a minor intrafamilial variability...
July 19, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28723664/detecting-the-genetic-link-between-alzheimer-s-disease-and-obesity-using-bioinformatics-analysis-of-gwas-data
#3
Qi-Shuai Zhuang, Hao Zheng, Xiao-Dan Gu, Liang Shen, Hong-Fang Ji
Alzheimer's disease (AD) represents the major form of dementia in the elderly. In recent years, accumulating evidence indicate that obesity may act as a risk factor for AD, while the genetic link between the two conditions remains unclear. This bioinformatics analysis aimed to detect the genetic link between AD and obesity on single nucleotide polymorphisms (SNPs), gene, and pathway levels based on genome-wide association studies data. A total of 31 SNPs were found to be shared by AD and obesity, which were linked to 7 genes...
July 8, 2017: Oncotarget
https://www.readbyqxmd.com/read/28723566/genome-wide-rnai-screen-for-fat-regulatory-genes-in-c-%C3%A2-elegans-identifies-a-proteostasis-ampk-axis-critical-for-starvation-survival
#4
Christopher M Webster, Elizabeth C Pino, Christopher E Carr, Lianfeng Wu, Ben Zhou, Lucydalila Cedillo, Michael C Kacergis, Sean P Curran, Alexander A Soukas
Organisms must execute metabolic defenses to survive nutrient deprivation. We performed a genome-wide RNAi screen in Caenorhabditis elegans to identify fat regulatory genes indispensable for starvation resistance. Here, we show that opposing proteostasis pathways are principal determinants of starvation survival. Reduced function of cytoplasmic aminoacyl tRNA synthetases (ARS genes) increases fat mass and extends starvation survival, whereas reduced proteasomal function reduces fat and starvation survival. These opposing pathways converge on AMP-activated protein kinase (AMPK) as the critical effector of starvation defenses...
July 18, 2017: Cell Reports
https://www.readbyqxmd.com/read/28702320/parental-obesity-leads-to-metabolic-changes-in-the-f2-generation-in-drosophila
#5
Rebecca A S Palu, Sophia A Praggastis, Carl S Thummel
OBJECTIVE: A significant portion of the heritable risk for complex metabolic disorders cannot be attributed to classic Mendelian genetic factors. At least some of this missing heritability is thought to be due to the epigenetic influence of parental and grandparental metabolic state on offspring health. Previous work suggests that this transgenerational phenomenon is evolutionarily conserved in Drosophila. These studies, however, have all depended on dietary paradigms to alter parental metabolic state, which can have inconsistent heritable effects on the metabolism of offspring...
July 2017: Molecular Metabolism
https://www.readbyqxmd.com/read/28696026/a-genome-wide-association-study-for-a-proxy-of-intermuscular-fat-level-in-the-italian-large-white-breed-identifies-genomic-regions-affecting-an-important-quality-parameter-for-dry-cured-hams
#6
L Fontanesi, G Schiavo, G Galimberti, S Bovo, V Russo, M Gallo, L Buttazzoni
Intermuscular fat content in protected designations of origin dry-cured hams is a very important meat quality trait that affects the acceptability of the product by the consumers. An excess in intermuscular fat (defined as the level of fat deposition between leg muscles) is a defect that depreciates the final product. In this study we carried out a genome-wide association study for visible intermuscular fat (VIF) of hams in the Italian Large White pig breed. This trait was evaluated on the exposed muscles of green legs in 1122 performance-tested gilts by trained personnel, according to a classification scale useful for routine and cheap evaluation...
August 2017: Animal Genetics
https://www.readbyqxmd.com/read/28690993/2q37-deletion-syndrome-confirmed-by-high-resolution-cytogenetic-analysis
#7
Eun-Kyung Cho, Jinsup Kim, Aram Yang, Sung Yoon Cho, Dong-Kyu Jin
Chromosome 2q37 deletion syndrome is a rare chromosomal disorder characterized by mild to moderate developmental delay, brachydactyly of the third to fifth digits or toes, short stature, obesity, hypotonia, a characteristic facial appearance, and autism spectrum disorder. Here, we report on a patient with 2q37 deletion presenting with dilated cardiomyopathy (DCMP). Congenital heart malformations have been noted in up to 20% of patients with 2q37 deletions. However, DCMP has not been reported in 2q37 deletion patients previously...
June 2017: Annals of Pediatric Endocrinology & Metabolism
https://www.readbyqxmd.com/read/28689206/guide-for-current-nutrigenetic-nutrigenomic-and-nutriepigenetic-approaches-for-precision-nutrition-involving-the-prevention-and-management-of-chronic-diseases-associated-with-obesity
#8
Omar Ramos-Lopez, Fermín I Milagro, Hooman Allayee, Agata Chmurzynska, Myung Sook Choi, Rui Curi, Raffaele De Caterina, Lynnette R Ferguson, Leticia Goni, Jing X Kang, Martin Kohlmeier, Amelia Marti, Luis A Moreno, Louis Pérusse, Chandan Prasad, Lu Qi, Ram Reifen, Jose I Riezu-Boj, Rodrigo San-Cristobal, Jose Luis Santos, J Alfredo Martínez
Chronic diseases, including obesity, are major causes of morbidity and mortality in most countries. The adverse impacts of obesity and associated comorbidities on health remain a major concern due to the lack of effective interventions for prevention and management. Precision nutrition is an emerging therapeutic approach that takes into account an individual's genetic and epigenetic information, as well as age, gender, or particular physiopathological status. Advances in genomic sciences are contributing to a better understanding of the role of genetic variants and epigenetic signatures as well as gene expression patterns in the development of diverse chronic conditions, and how they may modify therapeutic responses...
July 8, 2017: Journal of Nutrigenetics and Nutrigenomics
https://www.readbyqxmd.com/read/28687644/genome-scale-model-and-omics-analysis-of-metabolic-capacities-of-akkermansia-muciniphila-reveal-a-preferential-mucin-degrading-lifestyle
#9
Noora Ottman, Mark Davids, Maria Suarez-Diez, Sjef Boeren, Peter J Schaap, Vitor A P Martins Dos Santos, Hauke Smidt, Clara Belzer, Willem M de Vos
The composition and activity of the microbiota in the human gastrointestinal tract is primarily shaped by nutrients derived either from food or the host. Bacteria colonizing the mucus layer have evolved to use mucin as a carbon and energy source. One of the members of the mucosa-associated microbiota is Akkermansia muciniphila, which is capable of producing an extensive repertoire of mucin-degrading enzymes. To further study substrate utilization abilities of A. muciniphila, we constructed a genome-scale metabolic model to test amino acid auxotrophy, vitamin biosynthesis, and sugar degrading capacities...
July 7, 2017: Applied and Environmental Microbiology
https://www.readbyqxmd.com/read/28687331/a-global-evolutionary-and-metabolic-analysis-of-human-obesity-gene-risk-variants
#10
Joseph J Castillo, Zachary S Hazlett, Robert A Orlando, William S Garver
It is generally accepted that the selection of gene variants during human evolution optimized energy metabolism that now interacts with our obesogenic environment to increase the prevalence of obesity. The purpose of this study was to perform a global evolutionary and metabolic analysis of human obesity gene risk variants (110 human obesity genes with 127 nearest gene risk variants) identified using genome-wide association studies (GWAS) to enhance our knowledge of early and late genotypes. As a result of determining the mean frequency of these obesity gene risk variants in 13 available populations from around the world our results provide evidence for the early selection of ancestral risk variants (defined as selection before migration from Africa) and late selection of derived risk variants (defined as selection after migration from Africa)...
July 4, 2017: Gene
https://www.readbyqxmd.com/read/28679947/interspecies-nash-disease-activity-whole-genome-profiling-identifies-a-fibrogenic-role-of-ppar%C3%AE-regulated-dermatopontin
#11
Philippe Lefebvre, Fanny Lalloyer, Eric Baugé, Michal Pawlak, Céline Gheeraert, Hélène Dehondt, Jonathan Vanhoutte, Eloise Woitrain, Nathalie Hennuyer, Claire Mazuy, Marie Bobowski-Gérard, Francesco Paolo Zummo, Bruno Derudas, Ann Driessen, Guy Hubens, Luisa Vonghia, Wilhelmus J Kwanten, Peter Michielsen, Thomas Vanwolleghem, Jérôme Eeckhoute, An Verrijken, Luc Van Gaal, Sven Francque, Bart Staels
Nonalcoholic fatty liver disease prevalence is soaring with the obesity pandemic, but the pathogenic mechanisms leading to the progression toward active nonalcoholic steatohepatitis (NASH) and fibrosis, major causes of liver-related death, are poorly defined. To identify key components during the progression toward NASH and fibrosis, we investigated the liver transcriptome in a human cohort of NASH patients. The transition from histologically proven fatty liver to NASH and fibrosis was characterized by gene expression patterns that successively reflected altered functions in metabolism, inflammation, and epithelial-mesenchymal transition...
July 6, 2017: JCI Insight
https://www.readbyqxmd.com/read/28678996/harnessing-genomic-biobanks-to-understand-obesity-in-cardiometabolic-disease-prospects-and-pitfalls
#12
Christopher J O'Donnell
No abstract text is available yet for this article.
July 5, 2017: JAMA Cardiology
https://www.readbyqxmd.com/read/28678979/association-of-body-mass-index-with-cardiometabolic-disease-in-the-uk-biobank-a-mendelian-randomization-study
#13
Donald M Lyall, Carlos Celis-Morales, Joey Ward, Stamatina Iliodromiti, Jana J Anderson, Jason M R Gill, Daniel J Smith, Uduakobong Efanga Ntuk, Daniel F Mackay, Michael V Holmes, Naveed Sattar, Jill P Pell
Importance: Higher body mass index (BMI) is a risk factor for cardiometabolic disease; however, the underlying causal associations remain unclear. Objectives: To use UK Biobank data to report causal estimates of the association between BMI and cardiometabolic disease outcomes and traits, such as pulse rate, using mendelian randomization. Design, Setting, and Participants: Cross-sectional baseline data from a population-based cohort study including 119 859 UK Biobank participants with complete phenotypic (medical and sociodemographic) and genetic data...
July 5, 2017: JAMA Cardiology
https://www.readbyqxmd.com/read/28678615/the-future-of-nutrition-nutrigenomics-and-nutrigenetics-in-obesity-and-cardiovascular-diseases
#14
Alicia Cristina Peña-Romero, Diana Navas-Carrillo, Francisco Marín, Esteban Orenes-Piñero
Over time, the relationship between diet and health has aroused great interest, since nutrition can prevent and treat several diseases. It has been demonstrated that general recommendations on macronutrients and micronutrients do not affect to every individual in the same way because diet is an important environmental factor that interacts with genes. Thus, there is a growing necessity of improving a personalized nutrition to treat obesity and associated medical conditions, taking into account the interactions between diet, genes and health...
July 5, 2017: Critical Reviews in Food Science and Nutrition
https://www.readbyqxmd.com/read/28678596/maternal-inflammatory-diet-and-adverse-pregnancy-outcomes-circulating-cytokines-and-genomic-imprinting-as-potential-regulators
#15
Lauren E McCullough, Erline E Miller, Laura E Calderwood, Nitin Shivappa, Susan E Steck, Michele R Forman, Michelle Mendez, Rachel Maguire, Bernard F Fuemmeler, Scott H Kollins, Staci Bilbo, Zhiqing Huang, Amy P Murtha, Susan K Murphy, James R Hébert, Cathrine Hoyo
Excessive inflammation during pregnancy alters homeostatic mechanisms of the developing fetus and has been linked to adverse pregnancy outcomes. An anti-inflammatory diet could be a promising avenue to combat the pro-inflammatory state of pregnancy, particularly in obese women, but we lack mechanistic data linking this dietary pattern during pregnancy to inflammation and birth outcomes. In an ethnically diverse cohort of 1057 mother-child pairs, we estimated the relationships between dietary inflammatory potential [measured via the energy-adjusted dietary inflammatory index (E-DII™)] and birth outcomes overall, as well as by offspring sex and maternal pre-pregnancy body mass index (BMI)...
July 5, 2017: Epigenetics: Official Journal of the DNA Methylation Society
https://www.readbyqxmd.com/read/28676681/maternal-vitamin-d-dna-methylation-at-imprint-regulatory-regions-and-offspring-weight-at-birth-1-year-and-3-years
#16
S E B Neelon, A J White, A C Vidal, J M Schildkraut, A P Murtha, S K Murphy, S W Kullman, C Hoyo
BACKGROUND/OBJECTIVE: Vitamin D deficiency during pregnancy is associated with poor birth outcomes in some studies, but few have examined weight beyond birth. Additionally, little is known about how vitamin D influences DNA methylation of regulatory regions known to be involved in growth, as possible mediators to weight status in offspring. SUBJECTS/METHODS: We conducted linear regressions to assess maternal plasma 25-hydroxyvitamin D (25(OH)D) by quartile and birth weight for gestational age z-score, 1-year weight-for-length z-score, and 3-year body mass index (BMI) z-score among 476 mother/infant dyads from a prospective cohort...
July 5, 2017: International Journal of Obesity: Journal of the International Association for the Study of Obesity
https://www.readbyqxmd.com/read/28674662/bmi-prediction-within-a-korean-population
#17
Jin Sol Lee, Hyun Sub Cheong, Hyoung-Doo Shin
BACKGROUND: Body Mass Index (BMI) is widely regarded as an important clinical trait for obesity and other diseases such as Type 2 diabetes, coronary heart disease, and osteoarthritis. METHODS: This study uses 6,011 samples of genotype data from ethnic Korean subjects. The data was retrieved from the Korea Association Resource. To identify the BMI-related markers within the Korean population, we collected genome-wide association study (GWAS) markers using a GWAS catalog and also obtained other markers from nearby regions...
2017: PeerJ
https://www.readbyqxmd.com/read/28674003/genome-sequence-of-a-diabetes-prone-rodent-reveals-a-mutation-hotspot-around-the-parahox-gene-cluster
#18
Adam D Hargreaves, Long Zhou, Josef Christensen, Ferdinand Marlétaz, Shiping Liu, Fang Li, Peter Gildsig Jansen, Enrico Spiga, Matilde Thye Hansen, Signe Vendelbo Horn Pedersen, Shameek Biswas, Kyle Serikawa, Brian A Fox, William R Taylor, John Frederick Mulley, Guojie Zhang, R Scott Heller, Peter W H Holland
The sand rat Psammomys obesus is a gerbil species native to deserts of North Africa and the Middle East, and is constrained in its ecology because high carbohydrate diets induce obesity and type II diabetes that, in extreme cases, can lead to pancreatic failure and death. We report the sequencing of the sand rat genome and discovery of an unusual, extensive, and mutationally biased GC-rich genomic domain. This highly divergent genomic region encompasses several functionally essential genes, and spans the ParaHox cluster which includes the insulin-regulating homeobox gene Pdx1...
July 3, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28669668/orosensory-detection-of-bitter-in-fat-taster-healthy-and-obese-participants-genetic-polymorphism-of-cd36-and-tas2r38
#19
Inchirah Karmous, Jiří Plesník, Amira Sayed Khan, Omar Šerý, Abdelmajid Abid, Amani Mankai, Abdellah Aouidet, Naim Akhtar Khan
BACKGROUND & AIMS: We assessed orosensory detection of a long-chain fatty acid, linoleic acid (LA), and a bitter taste marker, 6-n-propylthiouracil (PROP), and correlated lipid-taster subjects with PROP detection and polymorphism in genes encoding bitter and lipid taste receptors, respectively, TAS2R38 and CD36, in normal weight and obese subjects. DESIGN: The normal weight (n = 52, age = 35.3 ± 4.10 years, BMI = 23.22 ± 1.44 kg/m(2)) and obese (n = 52, age = 35...
June 21, 2017: Clinical Nutrition: Official Journal of the European Society of Parenteral and Enteral Nutrition
https://www.readbyqxmd.com/read/28664602/neurod1-deficient-diabetes-mody6-identification-of-the-first-cases-in-japanese-and-the-clinical-features
#20
Yukio Horikawa, Mayumi Enya, Hiroyo Mabe, Megumi Fukushima, Noriyuki Takubo, Masaaki Ohashi, Fuki Ikeda, Ken-Ichi Hashimoto, Hirotaka Watada, Jun Takeda
AIMS: Only a few families with neuronal differentiation 1 (NEUROD1)-deficient diabetes, currently designated as maturity-onset diabetes of the young 6 (MODY6), have been reported, but mostly in Caucasian, and no mutation has been identified by family-based screening in Japanese. Accordingly, the phenotypic details of the disease remain to be elucidated. METHODS: We examined a total of 275 subjects having diabetes suspected to be MODY who were negative for mutations in MODY1-5 referred from 155 medical institutions throughout Japan...
June 30, 2017: Pediatric Diabetes
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