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Single nucleotide polymorphism and metabolism

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https://www.readbyqxmd.com/read/28213913/application-of-crs-pcr-rflp-to-identify-cyp1a1-gene-polymorphism
#1
Mingcui Ding, Xiaoran Duan, Xiaolei Feng, Pengpeng Wang, Wei Wang
BACKGROUND: Cytochrome P4501A1 (CYP1A1) is a member of the cytochrome P450 gene family and plays an important role in the metabolism of exogenous and endogenous material. In recent research, it has been shown that its genetic polymorphisms are associated with many diseases. But the isoschizomers such as the BsrDI enzyme required for the detection of this polymorphism are expensive. METHODS: The study used an improved PCR-RFLP method with mismatched base for detection of the single-nucleotide polymorphism rs1048943...
February 18, 2017: Journal of Clinical Laboratory Analysis
https://www.readbyqxmd.com/read/28208577/single-nucleotide-polymorphism-of-ppar%C3%AE-a-protein-at-the-crossroads-of-physiological-and-pathological-processes
#2
Maria Petrosino, Laura Lori, Alessandra Pasquo, Clorinda Lori, Valerio Consalvi, Velia Minicozzi, Silvia Morante, Antonio Laghezza, Alessandra Giorgi, Davide Capelli, Roberta Chiaraluce
Genome polymorphisms are responsible for phenotypic differences between humans and for individual susceptibility to genetic diseases and therapeutic responses. Non-synonymous single-nucleotide polymorphisms (nsSNPs) lead to protein variants with a change in the amino acid sequence that may affect the structure and/or function of the protein and may be utilized as efficient structural and functional markers of association to complex diseases. This study is focused on nsSNP variants of the ligand binding domain of PPARγ a nuclear receptor in the superfamily of ligand inducible transcription factors that play an important role in regulating lipid metabolism and in several processes ranging from cellular differentiation and development to carcinogenesis...
February 10, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28207535/an-investigation-of-obesity-susceptibility-genes-in-northern-han-chinese-by-targeted-resequencing
#3
Yili Wu, Weijing Wang, Wenjie Jiang, Jie Yao, Dongfeng Zhang
Our earlier genome-wide linkage study of body mass index (BMI) showed strong signals from 7q36.3 and 8q21.13. This case-control study set to investigate 2 genomic regions which may harbor variants contributed to development of obesity.We employed targeted resequencing technology to detect single nucleotide polymorphisms (SNPs) in 7q36.3 and 8q21.13 from 16 individuals with obesity. These were compared with 504 East Asians in the 1000 Genomes Project as a reference panel. Linkage disequilibrium (LD) block analysis was performed for the significant SNPs located near the same gene...
February 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28198668/comparative-analysis-of-corynebacterium-glutamicum-genomes-a-new-perspective-for-the-industrial-production-of-amino-acids
#4
Junjie Yang, Sheng Yang
BACKGROUND: Corynebacterium glutamicum is a non-pathogenic bacterium widely used in industrial amino acid production and metabolic engineering research. Although the genome sequences of some C. glutamicum strains are available, comprehensive comparative genome analyses of these species have not been done. Six wild type C. glutamicum strains were sequenced using next-generation sequencing technology in our study. Together with 20 previously reported strains, we present a comprehensive comparative analysis of C...
January 25, 2017: BMC Genomics
https://www.readbyqxmd.com/read/28198586/influence-of-a-critical-single-nucleotide-polymorphism-on-nuclear-receptor-pxr-promoter-function
#5
Manjul Rana, Poonam Coshic, Ravinder Goswami, Rakesh K Tyagi
The Pregnane and Xenobiotic Receptor (PXR; NR1I2), is a ligand-modulated transcription factor that belongs to the nuclear receptor superfamily. It is expressed at higher levels primarily in liver and intestine as compared to the levels in several other organs. It is activated by a broad spectrum of xenobiotics and endobiotics. The primary function of PXR is to regulate the expression of drug metabolizing enzymes and transporters and prevent the accumulation of toxic chemicals in the body, thereby maintaining body's homeostasis...
February 15, 2017: Cell Biology International
https://www.readbyqxmd.com/read/28196478/genetic-analysis-of-impaired-trimethylamine-metabolism-using-whole-exome-sequencing
#6
Yiran Guo, Liang-Dar Hwang, Jiankang Li, Jason Eades, Chung Wen Yu, Corrine Mansfield, Alexis Burdick-Will, Xiao Chang, Yulan Chen, Fujiko F Duke, Jianguo Zhang, Steven Fakharzadeh, Paul Fennessey, Brendan J Keating, Hui Jiang, Hakon Hakonarson, Danielle R Reed, George Preti
BACKGROUND: Trimethylaminuria (TMAU) is a genetic disorder whereby people cannot convert trimethylamine (TMA) to its oxidized form (TMAO), a process that requires the liver enzyme FMO3. Loss-of-function variants in the FMO3 gene are a known cause of TMAU. In addition to the inability to metabolize TMA precursors like choline, patients often emit a characteristic odor because while TMAO is odorless, TMA has a fishy smell. The Monell Chemical Senses Center is a research institute with a program to evaluate people with odor complaints for TMAU...
February 15, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28188297/alternative-splicing-in-the-cytochrome-p450-superfamily-expands-protein-diversity-to-augment-gene-function-and-redirect-human-drug-metabolism
#7
Andrew J Annalora, Craig B Marcus, Patrick L Iversen
The human genome encodes 57 cytochrome P450 (CYP) genes whose enzyme products metabolize hundreds of drugs, thousands of xenobiotics and unknown numbers of endogenous compounds including steroids, retinoids and icosinoids. Indeed, CYP genes are the first line of defense against daily environmental chemical challenges in a manner that parallels the immune system. Several databases, including PubMed, AceView, and Ensembl, were queried to establish a comprehensive analysis of the full human CYP transcriptome. This review describes a remarkable diversification of the 57 human CYP genes, which may be alternatively processed into nearly 1000 distinct mRNA transcripts to shape an individual's CYP proteome...
February 10, 2017: Drug Metabolism and Disposition: the Biological Fate of Chemicals
https://www.readbyqxmd.com/read/28187506/the-effect-of-gene-variants-on-levonorgestrel-pharmacokinetics-when-combined-with-antiretroviral-therapy-containing-efavirenz-or-nevirapine
#8
M Neary, M Lamorde, A Olagunju, K M Darin, C Merry, P Byakika-Kibwika, D J Back, M Siccardi, A Owen, K K Scarsi
Reduced levonorgestrel concentrations from the levonorgestrel contraceptive implant was previously seen when given concomitantly with efavirenz. We sought to assess whether single nucleotide polymorphisms (SNPs) in genes involved in efavirenz and nevirapine metabolism were linked to these changes in levonorgestrel concentration. SNPs in CYP2B6, CYP2A6, NR1I2 and NR1I3 were analysed. Associations of participant demographics and genotype with levonorgestrel pharmacokinetics were evaluated in HIV-positive women using the levonorgestrel implant plus efavirenz- or nevirapine-based ART, in comparison to ART-naïve women using multivariate linear regression...
February 10, 2017: Clinical Pharmacology and Therapeutics
https://www.readbyqxmd.com/read/28187106/association-between-nat2-polymorphisms-and-the-risk-of-schizophrenia-in-a-northern-chinese-han-population
#9
Zhilin Luan, Tianlan Lu, Weihua Yue, Sjef Copray, Dai Zhang
The gene that encodes N-acetyltransferase 2 (NAT2), an enzyme that plays a crucial role in the metabolism of many drugs and xenobiotics, is located on chromosome 8p22, one of the most convictive susceptibility loci of schizophrenia. NAT2 genetic polymorphisms lead to various enzyme acetylation phenotypes. In the present study, six selected NAT2 exonic single nucleotide polymorphisms were genotyped in an independent case-control sample of a Northern Chinese Han population to verify the possible association between NAT2 and schizophrenia...
April 2017: Psychiatric Genetics
https://www.readbyqxmd.com/read/28186460/vitamin-d-receptor-gene-polymorphisms-metabolic-syndrome-and-type-2-diabetes-in-iranian-subjects-no-association-with-observed-snps
#10
Sakineh Shab-Bidar, Tirang R Neyestani, Abolghassem Djazayery
OBJECTIVE: This study aimed to investigate the associations between metabolic syndrome and type 2 diabetes and the presence of single nucleotide polymorphism of the vitamin D receptor gene in Iranian subjects with type 2 diabetes. SUBJECTS AND METHODS: Overall, 730 Iranian subjects (372 patients and 358 controls) were enrolled in this case-control study. Single nucleotide polymorphisms of the vitamin D receptor gene (FokI, BsmI, ApaI, and TaqI) were genotyped using the restriction fragment length polymorphism method...
February 10, 2017: International Journal for Vitamin and Nutrition Research. Journal International de Vitaminologie et de Nutrition
https://www.readbyqxmd.com/read/28182609/genetic-polymorphisms-associated-with-liver-disease-progression-in-hiv-hcv-coinfected-patients
#11
Luz M Medrano, María A Jiménez-Sousa, Amanda Fernández-Rodríguez, Salvador Resino
The pathogenic mechanisms of the accelerated progression of liver injury in HIV/HCV coinfection are incompletely understood. The progression of liver disease is variable between individuals having similar risk factors, suggesting that genetic background is an important contributor. The aim of this review is to give a summary of all single nucleotide polymorphisms associated with the severity of liver disease in patients coinfected with HIV and HCV reported in the literature. Therefore, a systematic search for articles published was made, 17 of which were selected for this review...
January 2017: AIDS Reviews
https://www.readbyqxmd.com/read/28178648/polymorphisms-of-esr1-ugt1a1-hcn1-map3k1-and-cyp2b6-are-associated-with-the-prognosis-of-hormone-receptor-positive-early-breast-cancer
#12
Sung-Hsin Kuo, Shi-Yi Yang, San-Lin You, Huang-Chun Lien, Ching-Hung Lin, Po-Han Lin, Chiun-Sheng Huang
In this study, we investigated whether single nucleotide polymorphisms (SNPs) identified by genome-wide association study (GWAS) (MAP3K1, FGFR2, TNRC9, HCN1, and 5p12), and SNPs involved in the metabolism of estrogen (CYP19, COMT, ESR1, and UGT1A1), tamoxifen (CYP2C9, CYP2C19, CYP3A5, and CYP2D6), and chemotherapeutic agents (ABCB1, ALDH3A1, and CYP2B6) are associated with the prognoses of 414 hormone receptor (HR)-positive early breast cancers with negative or 1 to 3 nodal metastases. At a median follow-up period of 10...
February 2, 2017: Oncotarget
https://www.readbyqxmd.com/read/28166833/slc12a3-variants-modulate-ldl-cholesterol-levels-in-the-mongolian-population
#13
Caiyan An, Kejin Zhang, Xiulan Su
BACKGROUND: Abnormalities in lipid metabolism are crucial factors in the pathogenesis of cardiovascular disease (CVD). Variants of many genes have been verified to confer risk for lipid metabolism abnormalities. However, the relationship between genetic variants of the NCC-encoding SLC12A3 gene and lipid metabolism in the Mongolian population remains unclear. In the present study, we aimed to elucidate the effects of SLC12A3 variants on Mongolian lipid metabolism, including total cholesterol (TCHO), triglycerides (TG), low-density lipoprotein cholesterol (LDL-c), and high-density lipoprotein cholesterol (HDL-c)...
February 6, 2017: Lipids in Health and Disease
https://www.readbyqxmd.com/read/28164605/association-of-mir-146a-rs2910164-and-mir-149-rs2292832-variants-with-susceptibility-to-type-2-diabetes
#14
Behnam Alipoor, Reza Meshkani, Hamid Ghaedi, Zohreh Sharifi, Ghodratollah Panahi, Taghi Golmohammadi
BACKGROUND: The deregulation of miRNAs has been implicated in the pathogenesis of type 2 diabetes (T2D). Single nucleotide polymorphisms (SNPs) located within the miRNA sequence could alter miRNA maturation and expression or change the binding affinity of miRNAs to their target mRNAs. In the present study we aimed to elucidate the possible association between the miR-146a rs2910164 and miR-149 rs2292832 variants with the susceptibility to T2D and its related metabolic traits in an Iranian population...
August 1, 2016: Clinical Laboratory
https://www.readbyqxmd.com/read/28164520/the-effect-of-abcb1-polymorphisms-on-serial-tacrolimus-concentrations-in-stable-austrian-long-term-kidney-transplant-recipients
#15
Markus Riegersperger, Max Plischke, Corinna Steinhauser, Anita Jallitsch-Halper, Guerkan Sengoelge, Wolfgang C Winkelmayer, Gere Sunder-Plassmann, Manuela F Ouml Dinger
BACKGROUND: The multidrug resistance 1 gene (ABCB1) encodes P-glycoprotein (PGP), mainly expressed in the liver and engaged in metabolism of drugs including the immunosuppressant tacrolimus (TAC). ABCB1 single nucleotide polymorphisms (SNP) may significantly alter pharmacokinetics and influence TAC concentrations of kidney transplant recipients (KTR). METHODS: The genotype distribution of ABCB1 1236C>T, 2677G>T/A and 3435C>T was investigated among 96 Austrian KTR who were converted from cyclosporin to TAC...
October 1, 2016: Clinical Laboratory
https://www.readbyqxmd.com/read/28164505/association-study-between-ghrelin-gene-polymorphism-and-metabolic-syndrome-in-a-han-chinese-population
#16
Yueyue You, Yaqin Yu, Yanhua Wu, Wenwang Rao, Yangyu Zhang, Yingyu Liu, Guang Yang, Yingli Fu, Jieping Shi, Changgui Kou
BACKGROUND: Ghrelin, in humans, is a hormone secreted from the stomach with an orexigenic effect, which is good for digestion and absorption, as well as regulating physical growth, metabolism, and energy balance. It is also involved in the development of metabolic syndrome (MetS) and type 2 diabetes mellitus (T2DM). This study assessed the association between single nucleotide variants of the GHRL gene and the risk of metabolic syndrome in a Han Chinese population. METHODS: A case-control study was performed on 3780 Han Chinese comprising 1813 MetS cases and 1967 controls...
January 1, 2017: Clinical Laboratory
https://www.readbyqxmd.com/read/28161285/genetic-polymorphisms-of-fads1-fads2-and-fads3-and-fatty-acid-profiles-in-subjects-received-methadone-maintenance-therapy
#17
Hui-Ting Yang, Ruey-Yun Wang, Shih-Yi Huang, Chieh-Liang Huang, Kuan-Pin Su
Abnormal fatty acid metabolism and the related enzymes had been observed to be associated with psychiatric disorders. We investigated FADS gene family genetic polymorphisms and variations of lipid profiles in patients with heroin dependence receiving 6-month methadone maintenance therapy (MMT). We recruited 89 MMT drug abusers and analyzed 3 tag single nucleotide polymorphisms (SNPs) from Fatty acid desaturases (FADS), FADS1, FADS2 and FADS3. The fatty acid profiles of erythrocyte membranes were analyzed based on genetic variations...
January 25, 2017: Prostaglandins, Leukotrienes, and Essential Fatty Acids
https://www.readbyqxmd.com/read/28161065/placental-genetic-variations-in-vitamin-d-metabolism-and-birthweight
#18
Tsegaselassie Workalemahu, Sylvia E Badon, Michal Dishi-Galitzky, Chunfang Qiu, Michelle A Williams, Tanya Sorensen, Daniel A Enquobahrie
INTRODUCTION: Vitamin D has pleiotropic functions that regulate fetal growth and development. We investigated associations of common placental genetic variations in vitamin D metabolism with birthweight. METHODS: The study was conducted among participants (506 maternal-infant pairs) of a pregnancy cohort study. Data were collected using interviewer-administered questionnaires and post-delivery medical record abstraction. DNA, extracted from placental samples collected at delivery, was genotyped for eight single nucleotide polymorphisms (SNPs) in five vitamin D metabolism genes (CUBN, LRP2, VDR, GC, and CYP2R1)...
February 2017: Placenta
https://www.readbyqxmd.com/read/28151874/single-nucleotide-polymorphisms-of-abcb1-gene-and-response-to-etanercept-treatment-in-patients-with-ankylosing-spondylitis-in-a-chinese-han-population
#19
Rui-Jian Yan, Ting-Ting Lou, Yi-Fang Wu, Wei-Shan Chen
BACKGROUND: Etanercept was highly recommended for patients with ankylosing spondylitis (AS), as its efficacy has been confirmed in AS, while genetic polymorphisms, by affecting drug metabolism or drug receptor, lead to interindividual variability in drug disposition and efficacy. Therefore, this study aims to investigate whether ABCB1 gene polymorphisms can predict therapeutic response to etanercept in patients with AS. METHODS: A total of 185 patients with AS in our hospital were recruited into our study from December 2012 to May 2015...
February 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28150878/pathway-analysis-of-published-genome-wide-association-studies-of-lung-cancer-a-potential-role-for-the-cyp4f3-locus
#20
Jieyun Yin, Hongliang Liu, Zhensheng Liu, Kouros Owzar, Younghun Han, Li Su, Yongyue Wei, Rayjean J Hung, Yonathan Brhane, John McLaughlin, Paul Brennan, Heike Bickeboeller, Albert Rosenberger, Richard S Houlston, Neil Caporaso, Maria Teresa Landi, Joachim Heinrich, Angela Risch, David C Christiani, Christopher I Amos, Qingyi Wei
The Fatty acids (FAs) metabolism is suggested to play a pivotal role in the development of lung cancer, we explored that by conducting pathway-based analysis. We performed a meta-analysis of published datasets of six genome wide association studies (GWASs) from the Transdisciplinary Research in Cancer of the Lung (TRICL) consortium, which included 12,160 cases with lung cancer and 16,838 cancer-free controls. A total of 30,722 single-nucleotide polymorphisms (SNPs) from 317 genes relevant to FA metabolic pathways were identified...
February 2, 2017: Molecular Carcinogenesis
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