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Single nucleotide polymorphism and metabolism

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https://www.readbyqxmd.com/read/29145541/variations-in-adipor1-but-not-adipor2-are-associated-with-hypertriglyceridemia-and-diabetes-in-an-admixed-latin-american-population
#1
Gustavo Gustavo Mora-García, María S Ruiz-Díaz, Fabian Espitia-Almeida, Doris Gómez-Camargo
BACKGROUND: Adiponectin is a hormone secreted by adipose tissue. It regulates glycolysis and lipolysis and is involved in the pathophysiology of diabetes and related disorders. Its activity is mainly mediated by the transmembrane receptors AdipoR1 and AdipoR2, which are encoded by ADIPOR1 (1q32.1) and ADIPOR2 (12p13.33) genes, respectively. In genetic association studies, single nucleotide polymorphisms (SNPs) in or near these genes have been associated with metabolic alterations. However, these relationships are still controversial...
July 2017: Review of Diabetic Studies: RDS
https://www.readbyqxmd.com/read/29142243/genetic-risk-scores-for-body-fat-distribution-attenuate-weight-loss-in-women-during-dietary-intervention
#2
M Svendstrup, K H Allin, T I A Sørensen, T H Hansen, N Grarup, T Hansen, H Vestergaard
BACKGROUND AND AIM: The well-established link between body fat distribution and metabolic health has been suggested to act through an impact on the remodeling capacity of the adipose tissue. Remodeling of the adipose tissue has been shown to affect body fat distribution and might affect the ability to lose weight. We aimed to study the effect of weighted genetic risk scores (GRSs) on weight loss based on single-nucleotide polymorphisms (SNPs) associated with waist-hip-ratio adjusted for body mass index (WHRadjBMI)...
November 16, 2017: International Journal of Obesity: Journal of the International Association for the Study of Obesity
https://www.readbyqxmd.com/read/29142238/mapping-qtls-conferring-salt-tolerance-and-micronutrient-concentrations-at-seedling-stagein-wheat
#3
Babar Hussain, Stuart James Lucas, Levent Ozturk, Hikmet Budak
Soil salinization and degradation is one of the consequences of climate change. Identification of major salt tolerance genes and marker assisted selection (MAS) can accelerate wheat breeding for this trait. We genotyped 154 wheat F2 lines derived from a cross between salt tolerant and susceptible cultivars using the Axiom Wheat Breeder's Genotyping Array. A high-density linkage map of 988 single nucleotide polymorphisms (SNPs) was constructed and utilized for quantitative trait loci (QTL) mapping for salt tolerance traits and mineral concentrations under salinity...
November 15, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29141648/polymorphisms-at-microrna-binding-sites-of-ara-c-and-anthracyclines-metabolic-pathway-genes-are-associated-with-outcome-of-acute-myeloid-leukemia-patients
#4
Hai-Xia Cao, Chao-Feng Miao, Liang Yan, Ping Tang, Li-Rong Zhang, Ling Sun
BACKGROUND: Gene polymorphisms at microRNA-binding sites (poly-miRTS) may affect gene transcription and expression through miRNA regulation, which is associated with cancer susceptibility, sensitivity to chemotherapy and prognosis. This study investigated the association between poly-miRTS of Ara-C/anthracycline metabolic pathways genes and the outcome of acute myeloid leukemia (AML) in Chinese patients after Ara-C-based chemotherapy. METHODS: A total of 17 poly-miRTS were selected from the SNPinfo Web Server and genotyped in 206 Chinese Han non-FAB-M3 AML patients using the SEQUENOM Mass-ARRAY system...
November 15, 2017: Journal of Translational Medicine
https://www.readbyqxmd.com/read/29138870/insig2-rs7566605-single-nucleotide-variant-and-global-dna-methylation-index-levels-are-associated-with-weight-loss-in-a-personalized-weight-reduction-program
#5
Francesca Pirini, Sebastian Rodriguez-Torres, Bola Grace Ayandibu, María Orera-Clemente, Alberto Gonzalez-de la Vega, Fahcina Lawson, Roland J Thorpe, David Sidransky, Rafael Guerrero-Preston
Single nucleotide polymorphisms associated with lipid metabolism and energy balance are implicated in the weight loss response caused by nutritional interventions. Diet‑induced weight loss is also associated with differential global DNA methylation. DNA methylation has been proposed as a predictive biomarker for weight loss response. Personalized biomarkers for successful weight loss may inform clinical decisions when deciding between behavioral and surgical weight loss interventions. The aim of the present study was to investigate the association between global DNA methylation, genetic variants associated with energy balance and lipid metabolism, and weight loss following a non‑surgical weight loss regimen...
November 14, 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/29136142/the-forkhead-transcription-factor-foxo3-negatively-regulates-natural-killer-cell-function-and-viral-clearance-in-myocarditis
#6
Madlen Loebel, Luise Holzhauser, Jelka A Hartwig, Praphulla C Shukla, Konstantinos Savvatis, Alexander Jenke, Martina Gast, Felicitas Escher, Sonya C Becker, Sandra Bauer, Andrea Stroux, Antje Beling, Meike Kespohl, Sandra Pinkert, Henry Fechner, Uwe Kuehl, Dirk Lassner, Wolfgang Poller, Heinz-Peter Schultheiss, Tanja Zeller, Stefan Blankenberg, Anna-Pia Papageorgiou, Stephane Heymans, Ulf Landmesser, Carmen Scheibenbogen, Carsten Skurk
Aims: Foxo3 is a transcription factor involved in cell metabolism, survival, and inflammatory disease. However, mechanistic insight in Foxo3 effects is still limited. Here, we investigated the role of Foxo3 on natural killer (NK) cell responses and its effects in viral myocarditis. Methods and results: Effects of Foxo3 on viral load and immune responses were investigated in a model of coxsackie virus B3 myocarditis in wild-type (WT) and Foxo3 deficient mice. Reduced immune cell infiltration, viral titres, and pro-inflammatory cytokines in cardiac tissue were observed in Foxo3-/- mice 7 days post-infection (p...
November 9, 2017: European Heart Journal
https://www.readbyqxmd.com/read/29135487/update-on-endocrine-aspects-of-childhood-obesity
#7
Charumathi Baskaran, Nurgun Kandemir
PURPOSE OF REVIEW: Although childhood obesity has leveled off in the last decade, 'severe obesity' continues to be on the rise. Various genetic, environmental and hormonal factors contribute to obesity. This article reviews the most current understanding of obesity's multifactorial origin and recent recommendations for its management in childhood and adolescence. RECENT FINDINGS: Epigenetics plays a key role in transmitting obesity risk to offspring. Single-nucleotide polymorphisms at genetic loci for adipokines and their receptors are associated with obesity...
November 11, 2017: Current Opinion in Endocrinology, Diabetes, and Obesity
https://www.readbyqxmd.com/read/29132293/genomic-regions-associated-with-host-response-to-porcine-reproductive-and-respiratory-syndrome-vaccination-and-co-infection-in-nursery-pigs
#8
Jenelle R Dunkelberger, Nick V L Serão, Ziqing Weng, Emily H Waide, Megan C Niederwerder, Maureen A Kerrigan, Joan K Lunney, Raymond R R Rowland, Jack C M Dekkers
BACKGROUND: The WUR1000125 (WUR) single nucleotide polymorphism (SNP) can be used as a genetic marker for host response to porcine reproductive and respiratory syndrome (PRRS), PRRS vaccination, and co-infection with porcine circovirus type 2b (PCV2b). Objectives of this study were to identify genomic regions other than WUR associated with host response to PRRS vaccination and PRRSV/PCV2b co-infection and regions with a different effect on host response to co-infection, depending on previous vaccination for PRRS...
November 13, 2017: BMC Genomics
https://www.readbyqxmd.com/read/29130521/a-variant-in-ppp4r3a-protects-against-alzheimer-related-metabolic-decline
#9
Leigh Christopher, Valerio Napolioni, Raiyan R Khan, Summer S Han, Michael D Greicius
OBJECTIVES: A reduction in glucose metabolism in the posterior cingulate cortex (PCC) predicts conversion to Alzheimer's disease (AD) and tracks disease progression, signifying its importance in AD. We aimed to use decline in PCC glucose metabolism as a proxy for the development and progression of AD to discover common genetic variants associated with disease vulnerability. METHODS: We performed a genome-wide association study (GWAS) of decline in PCC [(18) F] FDG PET measured in Alzheimer's Disease Neuroimaging Initiative (ADNI) participants (n=606)...
November 11, 2017: Annals of Neurology
https://www.readbyqxmd.com/read/29129831/identification-of-new-genetic-variants-of-hla-dqb1-associated-with-human-longevity-and-lipid-homeostasis-a-cross-sectional-study-in-a-chinese-population
#10
Fan Yang, Liang Sun, Xiaoquan Zhu, Jing Han, Yi Zeng, Chao Nie, Huiping Yuan, Xiaoling Li, Xiaohong Shi, Yige Yang, Caiyou Hu, Zeping Lv, Zezhi Huang, Chenguang Zheng, Siying Liang, Jin Huang, Gang Wan, Keyan Qi, Bin Qin, Suyan Cao, Xin Zhao, Yongqiang Zhang, Ze Yang
Healthy longevity has been an unremitting pursuit of human, but its genetic and the environment causes are still unclear. As longevity population is a good healthy aging model for understanding how the body begin aging and the process of aging, and plasma lipids metabolism and balance is a very important to life maintain and physiologic functional turnover. It is important to explore how the effect of genetic variants associated long-life individuals on lipids metabolism and balance. Therefore, we developed a comparative study based population which contains 2816 longevity and 2819 control...
November 10, 2017: Aging
https://www.readbyqxmd.com/read/29129355/a-metagenomic-approach-to-dissect-the-genetic-composition-of-enterotypes-in-han-chinese-and-two-muslim-groups
#11
Jing Li, Ruiqing Fu, Yajun Yang, Hans-Peter Horz, Yaqun Guan, Yan Lu, Haiyi Lou, Lei Tian, Shijie Zheng, Hongjiao Liu, Meng Shi, Kun Tang, Sijia Wang, Shuhua Xu
Distinct enterotypes have been observed in the human gut but little is known about the genetic basis of the microbiome. Moreover, it is not clear how many genetic differences exist between enterotypes within or between populations. In this study, both the 16S rRNA gene and the metagenomes of the gut microbiota were sequenced from 48 Han Chinese, 48 Kazaks, and 96 Uyghurs, and taxonomies were assigned after de novo assembly. Single nucleotide polymorphisms were also identified by referring to data from the Human Microbiome Project...
November 9, 2017: Systematic and Applied Microbiology
https://www.readbyqxmd.com/read/29128227/genome-wide-association-study-for-ketosis-in-us-jerseys-using-producer-recorded-data
#12
K L Parker Gaddis, J H Megonigal, J S Clay, C W Wolfe
Ketosis is one of the most frequently reported metabolic health events in dairy herds. Several genetic analyses of ketosis in dairy cattle have been conducted; however, few have focused specifically on Jersey cattle. The objectives of this research included estimating variance components for susceptibility to ketosis and identification of genomic regions associated with ketosis in Jersey cattle. Voluntary producer-recorded health event data related to ketosis were available from Dairy Records Management Systems (Raleigh, NC)...
November 8, 2017: Journal of Dairy Science
https://www.readbyqxmd.com/read/29123154/modification-of-single-nucleotide-polymorphism-in-a-fully-humanized-cyp3a-mouse-by-genome-editing-technology
#13
Satoshi Abe, Kaoru Kobayashi, Asami Oji, Tetsushi Sakuma, Kanako Kazuki, Shoko Takehara, Kazuomi Nakamura, Azusa Okada, Yasuko Tsukazaki, Naoto Senda, Kazuhisa Honma, Takashi Yamamoto, Masahito Ikawa, Kan Chiba, Mitsuo Oshimura, Yasuhiro Kazuki
Cytochrome P450, family 3, subfamily A (CYP3A) enzymes metabolize approximately 50% of commercially available drugs. Recently, we developed fully humanized transchromosomic (Tc) CYP3A mice with the CYP3A cluster including CYP3A4, CYP3A5, CYP3A7, and CYP3A43. Our humanized CYP3A mice have the CYP3A5*3 (g.6986G) allele, resulting in the almost absence of CYP3A5 protein expression in the liver and intestine. To produce model mice for predicting CYP3A5's contribution to pharmacokinetics, we performed a single-nucleotide polymorphism (SNP) modification of CYP3A5 (g...
November 9, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29122496/determinants-of-low-bone-mineral-density-in-children-with-epilepsy
#14
Choong Yi Fong, Ann Nie Kong, Mazidah Noordin, Bee Koon Poh, Lai Choo Ong, Ching Ching Ng
INTRODUCTION: Children with epilepsy on long-term antiepileptic drugs (AEDs) are at risk of low bone mineral density (BMD). The aims of our study were to evaluate the prevalence and determinants of low BMD among Malaysian children with epilepsy. METHOD: Cross-sectional study of ambulant children with epilepsy on long-term AEDs for >1 year seen in a tertiary hospital in Malaysia from 2014 to 2015. Detailed assessment of anthropometric measurements; environmental lifestyle risk factors; serum vitamin D, calcium and parathyroid hormone levels; genotyping of single nucleotide polymorphisms of genes in vitamin D and calcium metabolism; and lumbar spine BMD were obtained...
October 24, 2017: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/29120899/association-of-a-3-untranslated-region-polymorphism-in-proprotein-convertase-subtilisin-kexin-type-9-with-hiv-viral-load-and-cd4-levels-in-hiv-hepatitis-c-virus-coinfected-women
#15
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. METHODS: We examined 2050 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 1066 antiretroviral therapy-naive women...
November 28, 2017: AIDS
https://www.readbyqxmd.com/read/29118269/genetic-architecture-and-regulatory-impact-on-hepatic-microrna-expression-linked-to-immune-and-metabolic-traits
#16
Siriluck Ponsuksili, Nares Trakooljul, Frieder Hadlich, Fiete Haack, Eduard Murani, Klaus Wimmers
Regulation of microRNA (miRNA) expression contributes to a wide range of target gene expression and phenotypes. The miRNA expression in the liver, the central metabolic organ, was examined in 209 pigs, and integrated with haematological and clinical biomarkers of metabolic and overall health, mRNA-target expression levels and single-nucleotide polymorphism (SNP) genotypes. The expression levels of 426 miRNA species correlated with plasma haematological or biochemical traits (r² = |0.19-0.45|, false discovery rate < 5%)...
November 2017: Open Biology
https://www.readbyqxmd.com/read/29115451/presence-of-the-minor-allele-of-microrna205-rs3842530-polymorphism-increases-18fdg-uptake-in-patients-with-breast-cancer-via-targeting-vegf
#17
Shiying Qu, Tie Wang, Jingwei Huang
MicroRNAs (miRNAs) are regarded as key regulators of gene expression involved in the pathogenesis of various diseases. Numerous single nucleotide polymorphisms (SNPs) in miRNA genes have been found to be associated with human diseases by affecting the processing process of miRNAs. In the present study, patients with breast cancer underwent a PET scan, and the maximum standard uptake value (SUVmax)/partial volume‑corrected standard uptake value (SUVpvc) were determined in each individual. The samples were collected and genotyped for rs3842530...
October 27, 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/29114882/a-comprehensive-analysis-of-polymorphic-variants-in-steroid-hormone-and-igf-1-metabolism-and-risk-of-in-situ-breast-cancer-results-from-the-breast-and-prostate-cancer-cohort-bpc3-consortium
#18
Myrto Barrdahl, Federico Canzian, Mia M Gaudet, Susan M Gapstur, Antonia Trichopoulou, Kostas Tsilidis, Carla H van Gils, Signe Borgquist, Elisabete Weiderpass, Kay-Tee Khaw, Graham G Giles, Roger L Milne, Loic Le Marchand, Christopher Haiman, Sara Lindström, Peter Kraft, David J Hunter, Regina Ziegler, Stephen J Chanock, Xiaohong R Yang, Julie E Buring, I-Min Lee, Rudolf Kaaks, Daniele Campa
We assessed the association between 1,414 single nucleotide polymorphisms (SNPs) in genes involved in synthesis and metabolism of steroid hormones and IGF-1, and risk of breast cancer in situ (BCIS), with the aim of determining whether any of these were disease specific. This was done using 1,062 BCIS cases and 10,126 controls as well as 6,113 invasive breast cancer cases from the Breast and Prostate Cancer Cohort Consortium (BPC3). Three SNPs showed at least one nominally significant association in homozygous minor versus homozygous major models...
November 7, 2017: International Journal of Cancer. Journal International du Cancer
https://www.readbyqxmd.com/read/29114020/identification-of-novel-alleles-conferring-superior-production-of-rose-flavor-phenylethyl-acetate-using-polygenic-analysis-in-yeast
#19
Bruna Trindade de Carvalho, Sylvester Holt, Ben Souffriau, Rogelio Lopes Brandão, Maria R Foulquié-Moreno, Johan M Thevelein
Flavor compound metabolism is one of the last areas in metabolism where multiple genes encoding biosynthetic enzymes are still unknown. A major challenge is the involvement of side activities of enzymes having their main function in other areas of metabolism. We have applied pooled-segregant whole-genome sequence analysis to identify novel Saccharomyces cerevisiae genes affecting production of phenylethyl acetate (2-PEAc). This is a desirable flavor compound of major importance in alcoholic beverages imparting rose- and honey-like aromas, with production of high 2-PEAc levels considered a superior trait...
November 7, 2017: MBio
https://www.readbyqxmd.com/read/29101068/association-of-genetic-variants-in-retn-nampt-and-adipoq-gene-with-glycemic-metabolic-traits-and-diabetes-risk-in-a-chinese-population
#20
Qiang Zhou, Bo Chen, Tianxing Ji, Miaoshan Luo, Jiandong Luo
Abnormal serum levels of adipokine have been established to be a strong predictor of developing several human diseases including type 2 diabetes mellitus (T2DM). Association studies have reported several genetic variants in genes coding adipokines with contributions to T2DM susceptibility as well as some glycemic and metabolic traits, of which the single nucleotide polymorphisms (SNPs) of RETN, NAMPT, and ADIPOQ gene were well documented. However, little is known about contributions of these SNPs to above phenotypes in Chinese...
October 31, 2017: Gene
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