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Single nucleotide polymorphism and metabolism

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https://www.readbyqxmd.com/read/28928674/the-gly-16-allele-of-the-g16r-single-nucleotide-polymorphism-in-the-%C3%AE-2-adrenergic-receptor-gene-augments-the-glycemic-response-to-adrenaline-in-humans
#1
Kim Z Rokamp, Jonatan M Staalsø, Morten Zaar, Peter Rasmussen, Lonnie G Petersen, Rikke V Nielsen, Niels H Secher, Niels V Olsen, Henning B Nielsen
Cerebral non-oxidative carbohydrate consumption may be driven by a β2-adrenergic mechanism. This study tested whether the 46G > A (G16R) single nucleotide polymorphism of the β2-adrenergic receptor gene (ADRB2) influences the metabolic and cerebrovascular responses to administration of adrenaline. Forty healthy Caucasian men were included from a group of genotyped individuals. Cardio- and cerebrovascular variables at baseline and during a 60-min adrenaline infusion (0.06 μg kg(-1) min(-1)) were measured by Model flow, near-infrared spectroscopy and transcranial Doppler sonography...
2017: Frontiers in Physiology
https://www.readbyqxmd.com/read/28926576/receptor-for-advanced-glycation-end-products-and-world-trade-center-particulate-induced-lung-function-loss-a-case-cohort-study-and-murine-model-of-acute-particulate-exposure
#2
Erin J Caraher, Sophia Kwon, Syed H Haider, George Crowley, Audrey Lee, Minah Ebrahim, Liqun Zhang, Lung-Chi Chen, Terry Gordon, Mengling Liu, David J Prezant, Ann Marie Schmidt, Anna Nolan
World Trade Center-particulate matter(WTC-PM) exposure and metabolic-risk are associated with WTC-Lung Injury(WTC-LI). The receptor for advanced glycation end-products (RAGE) is most highly expressed in the lung, mediates metabolic risk, and single-nucleotide polymorphisms at the AGER-locus predict forced expiratory volume(FEV). Our objectives were to test the hypotheses that RAGE is a biomarker of WTC-LI in the FDNY-cohort and that loss of RAGE in a murine model would protect against acute PM-induced lung disease...
2017: PloS One
https://www.readbyqxmd.com/read/28926398/association-of-a-3-untranslated-region-polymorphism-in-pcsk9-with-hiv-viral-load-and-cd4-levels-in-hiv-hepatitis-c-virus-co-infected-women
#3
Mark H Kuniholm, Hua Liang, Kathryn Anastos, Deborah Gustafson, Seble Kassaye, Marek Nowicki, Beverly E Sha, Emilia J Pawlowski, Stephen J Gange, Bradley E Aouizerat, Tatiana Pushkarsky, Michael I Bukrinsky, Vinayaka R Prasad
OBJECTIVE: To assess variation in genes that regulate cholesterol metabolism in relation to the natural history of HIV infection. DESIGN: Cross-sectional and longitudinal analysis of the Women's Interagency HIV Study (WIHS). METHODS: We examined 2,050 single nucleotide polymorphisms (SNPs) in 19 genes known to regulate cholesterol metabolism in relation to HIV viral load and CD4 T cell levels in a multiracial cohort of 1,066 antiretroviral therapy (ART) naïve women...
September 18, 2017: AIDS
https://www.readbyqxmd.com/read/28917054/association-of-single-nucleotide-polymorphisms-in-selenoprotein-genes-with-cancer-risk
#4
Catherine Méplan
Genetic association studies have linked genetic variants in the Selenium (Se) metabolism with the development of complex diseases such as cancer and helped unravel novel mechanisms underlying cancer development. The chapter describes the specificity of genetic variants in the Se metabolism, the approaches used in association studies, and the limitations of such approaches.
2018: Methods in Molecular Biology
https://www.readbyqxmd.com/read/28914195/polymorphism-rs9939609-of-fat-mass-and-obesity-associated-gene-correlation-with-leptin-level-of-obese-women-suffered-from-type-2-diabetes
#5
Mehdi Niknam Moghanloo, Naser Aga Mohammadzadeh, Hajie Lotfi, Rasoul Mahmoudi, Maryam Abbasi, Farzaneh Ghafarian Alipour, Fatemeh Shool, Sadegh Porfar, Nosratollah Zarghami
Background Recent studies reported that Fat Mass and obesity-associated gene (FTO) single nucleotides polymorphisms (SNPs), especially rs9939609, have association with obesity and type 2 diabetes mellitus. On the other hand, many researches confirmed that leptin, an adipocytokine, is related to the obesity and body mass index (BMI) in patients who suffered from type 2 diabetes(T2DM). Objective In this study, the correlation of FTO rs9939609 polymorphism and leptin level was investigated in the obese women who suffered from T2DM...
September 15, 2017: Current Diabetes Reviews
https://www.readbyqxmd.com/read/28913579/association-between-fto-gene-polymorphisms-and-hdl-cholesterol-concentration-may-cause-higher-risk-of-cardiovascular-disease-in-patients-with-acromegaly
#6
Aleksandra Franczak, Katarzyna Kolačkov, Aleksandra Jawiarczyk-Przybyłowska, Marek Bolanowski
INTRODUCTION: Cardiovascular diseases are main cause of morbidity and mortality in acromegaly. Polymorphisms of FTO gene are associated with obesity and increased risk of CVD (independently of BMI). Aim of this study was to investigate the allele frequencies of two FTO gene polymorphisms: rs9939609 and rs9930506 in patients with acromegaly and to examine the association of FTO gene polymorphisms with BMI and selected metabolic parameters. MATERIALS AND METHODS: Identification of two single nucleotide polymorphisms of FTO gene was carried out in 51 patients with acromegaly using the minisequencing method...
September 14, 2017: Pituitary
https://www.readbyqxmd.com/read/28910984/genomic-and-transcriptomic-analysis-of-saccharomyces-cerevisiae-isolates-with-focus-in-succinic-acid-production
#7
Ricardo Franco-Duarte, Daniela Bessa, Filipa Gonçalves, Rosa Martins, António César Silva-Ferreira, Dorit Schuller, Paula Sampaio, Célia Pais
Succinic acid is a platform chemical that plays an important role as precursor for the synthesis of many valuable bio-based chemicals. Its microbial production from renewable resources has seen great developments, specially exploring the use of yeasts to overcome the limitations of using bacteria. The objective of the present work was to screen for succinate-producing isolates, using a yeast collection with different origins and characteristics. Four strains were chosen, two as promising succinic acid producers, in comparison with two low producers...
September 1, 2017: FEMS Yeast Research
https://www.readbyqxmd.com/read/28906356/shared-polymorphisms-and-modifiable-behavior-factors-for-myocardial-infarction-and-high-cholesterol-in-a-retrospective-population-study
#8
Yulan Liang, Arpad Kelemen
Genetic and environmental (behavior, clinical, and demographic) factors are associated with increased risks of both myocardial infarction (MI) and high cholesterol (HC). It is known that HC is major risk factor that may cause MI. However, whether there are common single nucleotide polymorphism (SNPs) associated with both MI and HC is not firmly established, and whether there are modulate and modified effects (interactions of genetic and known environmental factors) on either HC or MI, and whether these joint effects improve the predictions of MI, is understudied...
September 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28904993/abnormalities-of-signal-transduction-networks-in-chronic-schizophrenia
#9
Jennifer L McGuire, Erica A Depasquale, Adam J Funk, Sinead M O'Donnovan, Kathryn Hasselfeld, Shruti Marwaha, John H Hammond, Vahram Hartounian, James H Meador-Woodruff, Jarek Meller, Robert E McCullumsmith
Schizophrenia is a serious neuropsychiatric disorder characterized by disruptions of brain cell metabolism, microstructure, and neurotransmission. All of these processes require coordination of multiple kinase-mediated signaling events. We hypothesize that imbalances in kinase activity propagate through an interconnected network of intracellular signaling with potential to simultaneously contribute to many or all of the observed deficits in schizophrenia. We established a workflow distinguishing schizophrenia-altered kinases in anterior cingulate cortex using a previously published kinome array data set...
2017: NPJ Schizophrenia
https://www.readbyqxmd.com/read/28901487/association-of-srebp2-gene-polymorphisms-with-the-risk-of-osteonecrosis-of-the-femoral-head-relates-to-gene-expression-and-lipid-metabolism-disorders
#10
Yang Song, Zhenwu Du, Bingpeng Chen, Ming Ren, Qiwei Yang, Yujie Sui, Qingyu Wang, Ao Wang, Haiyue Zhao, Yanguo Qin, Guizhen Zhang
Although lipid metabolism disorders have been recognized as a primary factor of osteonecrosis of the femoral head (ONFH), the molecular pathogenesis remains unclear. Sterol regulatory element‑binding protein 2 (SREBP2) specifically regulates cholesterol and fatty acid metabolism to maintain lipid homeostasis. To explore the roles of the SREBP2 gene in the development of ONFH, the authors analyzed the gene polymorphism and gene expression of three tag single nucleotide polymorphisms of the SREBP2 gene, the serum lipids levels, and their associations with ONFH development in 182 ONFH patients and 179 healthy controls...
September 12, 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/28900877/genetic-polymorphisms-of-slco1b1-cyp2e1-and-ugt1a1-and-susceptibility-to-anti-tuberculosis-drug-induced-hepatotoxicity-a-chinese-population-based-prospective-case-control-study
#11
Qin Sun, Hai-Peng Liu, Rui-Juan Zheng, Peng Wang, Zhi-Bin Liu, Wei Sha, He-Ping Xiao
BACKGROUND: Drug transporters and drug-metabolizing enzymes have been linked to drug-induced hepatotoxicity. Solute carrier organic anion transporter family member 1B1 (SLCO1B1), cytochrome P450 2E1 (CYP2E1), and UDP glucuronosyltransferase 1A1 (UGT1A1) were selected as candidate genes to explore their association with susceptibility to anti-tuberculosis drug-induced hepatotoxicity (ATDH). METHODS: Thirty-four tag single nucleotide polymorphisms (tagSNPs) in SLCO1B1, CYP2E1, and UGT1A1 with 10-kb expansion up- and down-stream were genotyped in 461 patients with ATDH and 466 patients without ATDH in a prospective 1:1 matched case-control study...
September 12, 2017: Clinical Drug Investigation
https://www.readbyqxmd.com/read/28900113/abnormalities-of-signal-transduction-networks-in-chronic-schizophrenia
#12
Jennifer L McGuire, Erica A Depasquale, Adam J Funk, Sinead M O'Donnovan, Kathryn Hasselfeld, Shruti Marwaha, John H Hammond, Vahram Hartounian, James H Meador-Woodruff, Jarek Meller, Robert E McCullumsmith
Schizophrenia is a serious neuropsychiatric disorder characterized by disruptions of brain cell metabolism, microstructure, and neurotransmission. All of these processes require coordination of multiple kinase-mediated signaling events. We hypothesize that imbalances in kinase activity propagate through an interconnected network of intracellular signaling with potential to simultaneously contribute to many or all of the observed deficits in schizophrenia. We established a workflow distinguishing schizophrenia-altered kinases in anterior cingulate cortex using a previously published kinome array data set...
September 12, 2017: NPJ Schizophrenia
https://www.readbyqxmd.com/read/28895540/polymorphism-rs3123554-in-the-cannabinoid-receptor-gene-type-2-cnr2-reveals-effects-on-body-weight-and-insulin-resistance-in-obese-subjects
#13
Daniel Antonio de Luis, Olatz Izaola, David Primo, Beatriz de la Fuente, Rocio Aller
BACKGROUND: Few studies assessing the relationship between single nucleotide polymorphisms in CNR2 and obesity or its related metabolic parameters are available. OBJECTIVE: To investigate the influence of polymorphism rs3123554 in the CNR2 receptor gene on obesity anthropometric parameters, insulin resistance, and adipokines in subjects with obesity. DESIGN: The study population consisted of 1027 obese subjects, who were performed bioelectrical impedance analyses, blood pressure measurements, serial assessments of dietary intake during three days, and biochemical tests...
October 2017: Endocrinología, diabetes y nutrición
https://www.readbyqxmd.com/read/28893745/a-new-risk-locus-in-chchd5-for-hypertension-and-obesity-in-a-chinese-child-population-a-cohort-study
#14
Lijun Wu, Liwang Gao, Xiaoyuan Zhao, Meixian Zhang, Jianxin Wu, Jie Mi
OBJECTIVE: Coiled-coil-helix-coiled-coil-helix domain containing 5 (CHCHD5), a mitochondrial protein, is involved in the oxidative folding process in the mitochondrial intermembrane space. A previous study identified a hypertension-related single nucleotide polymorphism (SNP), rs3748024, in CHCHD5 in adults, but there are no reports regarding the association between CHCHD5 and obesity, which is a known risk factor for hypertension. The aim of the present study is to investigate the associations of the SNP rs3748024 with hypertension and obesity...
September 11, 2017: BMJ Open
https://www.readbyqxmd.com/read/28891930/vitamin-d-receptor-gene-polymorphisms-associated-with-childhood-autism
#15
Anna Cieślińska, Elżbieta Kostyra, Barbara Chwała, Małgorzata Moszyńska-Dumara, Ewa Fiedorowicz, Małgorzata Teodorowicz, Huub F J Savelkoul
BACKGROUND: Autism spectrum disorder (ASD) is a group of heterogeneous, behaviorally defined disorders whereby currently no biological markers are common to all affected individuals. A deregulated immune response may be contributing to the etiology of ASD. The active metabolite of vitamin D₃ has an immunoregulatory role mediated by binding to the vitamin D receptor (VDR) in monocyte, macrophages, and lymphocytes. The effects of vitamin D and interaction with the VDR may be influenced by polymorphism in the VDR gene...
September 9, 2017: Brain Sciences
https://www.readbyqxmd.com/read/28891071/genetic-variation-in-the-vitamin-d-related-pathway-and-breast-cancer-risk-in-women-of-african-ancestry-in-the-root-consortium
#16
Shengfeng Wang, Dezheng Huo, Sonia Kupfer, Dereck Alleyne, Temidayo O Ogundiran, Oladosu Ojengbede, Wei Zheng, Katherine L Nathanson, Barbara Nemesure, Stefan Ambs, Olufunmilayo I Olopade, Yonglan Zheng
The vitamin D related pathway has been evaluated in carcinogenesis but its genetic contribution remains poorly understood. We examined single-nucleotide polymorphisms (SNPs) in the vitamin D related pathway genes using data from a genome-wide association study (GWAS) of breast cancer in the African Diaspora that included 3,686 participants (1,657 cases). Pathway- and gene-level analyses were conducted using the adaptive rank truncated product test. Odds ratios (OR) and 95% confidence intervals (CI) were estimated at SNP-level...
September 10, 2017: International Journal of Cancer. Journal International du Cancer
https://www.readbyqxmd.com/read/28881669/genetic-evaluations-of-chinese-patients-with-odontohypophosphatasia-resulting-from-heterozygosity-for-mutations-in-the-tissue-non-specific-alkaline-phosphatase-gene
#17
Jia Wan, Li Zhang, Tang Liu, Yewei Wang
BACKGROUND: Hypophosphatasia is a rare heritable metabolic disorder characterized by defective bone and tooth mineralization accompanied by a deficiency of tissue-non-specific (liver/bone/kidney) isoenzyme of alkaline phosphatase activity, caused by a number of loss-of-function mutations in the alkaline phosphatase liver type gene. We seek to explore the clinical manifestations and identify the mutations associated with the disease in a Chinese odonto- hypophosphatasia family. RESULTS: The proband and his younger brother affected with premature loss of primary teeth at their 2-year-old...
August 1, 2017: Oncotarget
https://www.readbyqxmd.com/read/28878180/bariatric-surgery-and-precision-nutrition
#18
REVIEW
Carolina F Nicoletti, Cristiana Cortes-Oliveira, Marcela A S Pinhel, Carla B Nonino
This review provides a literature overview of new findings relating nutritional genomics and bariatric surgery. It also describes the importance of nutritional genomics concepts in personalized bariatric management. It includes a discussion of the potential role bariatric surgery plays in altering the three pillars of nutritional genomics: nutrigenetics, nutrigenomics, and epigenetics. We present studies that show the effect of each patient's genetic and epigenetic variables on the response to surgical weight loss treatment...
September 6, 2017: Nutrients
https://www.readbyqxmd.com/read/28873329/mitochondrial-mutations-in-human-cancer-curation-of-translation
#19
Maϊwen Caudron-Herger, Sven Diederichs
As a genetic disease, cancer is caused by the activation of oncogenes and the inhibition of tumor suppressor genes via genetic and epigenetic mechanisms. Given the important role of energy metabolism in tumors, we analyzed the cancer-derived mutations occurring in the DNA of the mitochondrion. Mutations in the mitochondrial DNA (mtDNA) compared to nuclear DNA are 62% decreased relative to the coding length per chromosome. We find that the majority of these mutations affects highly conserved nucleotides - significantly exceeding the conservation of the mtDNA - and are devoid of single nucleotide polymorphisms (SNPs)...
September 5, 2017: RNA Biology
https://www.readbyqxmd.com/read/28871847/single-nucleotide-polymorphisms-in-carnosinase-genes-cndp1-and-cndp2-are-associated-with-power-athletic-status
#20
João Paulo Limongi França Guilherme, Antonio Herbert Lancha Junior
Carnosine (β-alanyl-L-histidine), abundantly found in skeletal muscle, plays an important role during exercise, especially for high-intensity contractions. Variability in muscle carnosine content between individuals exists and may also be explained by different genetic bases, although no study has addressed the association of polymorphisms in genes related to carnosine metabolism in athletes. This study aimed to investigate the frequency of single nucleotide polymorphisms (SNPs) in the carnosinase genes (CNDP1 and CNDP2) in a large Brazilian cohort of athletes and non-athletes...
September 5, 2017: International Journal of Sport Nutrition and Exercise Metabolism
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