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https://www.readbyqxmd.com/read/28931220/race-ethnicity-and-the-pharmacogenetics-of-reported-suicidality-with-efavirenz-among-clinical-trials-participants
#1
Katie R Mollan, Camlin Tierney, Jacklyn N Hellwege, Joseph J Eron, Michael G Hudgens, Roy M Gulick, Richard Haubrich, Paul E Sax, Thomas B Campbell, Eric S Daar, Kevin R Robertson, Diana Ventura, Qing Ma, Digna R Velez Edwards, David W Haas
Background: We examined associations between suicidality and genotypes that predict plasma efavirenz exposure among AIDS Clinical Trials Group study participants in the United States. Methods: Four clinical trials randomly assigned treatment-naive participants to efavirenz-containing regimens; suicidality was defined as reported suicidal ideation or attempted or completed suicide. Genotypes that predict plasma efavirenz exposure were defined by CYP2B6 and CYP2A6 polymorphisms...
September 1, 2017: Journal of Infectious Diseases
https://www.readbyqxmd.com/read/28930911/an-enrichment-strategy-yields-seven-novel-single-nucleotide-polymorphisms-associated-with-mortality-and-altered-th17-responses-following-blunt-trauma
#2
Lukas Schimunek, Rami A Namas, Jinling Yin, Dongmei Liu, Derek Barclay, Fayten El-Dehaibi, Andrew Abboud, Haley Lindberg, Ruben Zamora, R Billiar Timothy, Yoram Vodovotz
Trauma is the leading cause of death worldwide for individuals under the age of 55. Interpatient genomic differences, in the form of candidate single nucleotide polymorphisms (SNPs), have been associated previously with adverse outcomes after trauma. However, the utility of these SNPs to predict outcomes based on a meaningful endpoint such as survival is as yet undefined. We hypothesized that specific SNP haplotypes could segregate trauma survivors from non-survivors. Genomic DNA samples were obtained from 453 blunt trauma patients, for whom complete daily clinical and biomarker data were available for 397...
September 19, 2017: Shock
https://www.readbyqxmd.com/read/28930612/genetic-addiction-risk-score-gars-%C3%A2-a-predictor-of-vulnerability-to-opioid-dependence
#3
Kenneth Blum, Amanda L C Chen, Panayotis K Thanos, Marcelo Febo, Zsolt Demetrovics, Kristina Dushaj, Abraham Kovoor, David Baron, David E Smith, Alphonso Kenison Roy Iii, Lyle Fried, Thomas J H Chen, Edwin Chapman, Edward Modestino, Bruce Steinberg, Rajendra D Badgaiyan
The interaction of neurotransmitters and genes that control the release of dopamine is the Brain Reward Cascade (BRC). Variations within the BRC, whether genetic or epigenetic, may predispose individuals to addictive behaviors and altered pain tolerance. This discussion authored by a group of concerned scientists and clinicians examines the Genetic Addiction Risk Score (GARS), the first test to accurately predict vulnerability to pain, addiction, and other compulsive behaviors, defined as Reward Deficiency Syndrome (RDS)...
January 1, 2018: Frontiers in Bioscience (Elite Edition)
https://www.readbyqxmd.com/read/28930238/a-thrombomodulin-gene-polymorphism-c1418t-is-associated-with-early-outcomes-in-patients-undergoing-coronary-artery-bypass-graft-surgery-with-a-conventional-cardiopulmonary-bypass-during-hospitalization
#4
Ching-Chou Pai, Yi-Wen Lin, Yi-Ting Tsai, Shih-Hurng Loh, Chih-Yuan Lin, Chin-Sheng Lin, Yi-Chang Lin, Hung-Yen Ke, Feng-Yen Lin, Chien-Sung Tsai
Background: Thrombomodulin (TM) is a type of cell membrane-bound anticoagulant protein cofactor in the thrombin-mediated activation of protein C. Previous evidence has shown an association between TM polymorphisms and systemic inflammation. Conventional cardiopulmonary bypass (CPB), beating-heart CPB, and off-pump techniques have been widely used in cardiac surgery. However, these techniques may also cause systemic inflammatory responses in the patients. Whether TM polymorphisms are associated with systemic inflammation after cardiac surgery is still unclear...
April 23, 2017: Medicines (Basel, Switzerland)
https://www.readbyqxmd.com/read/28929822/genetic-and-ethnic-modulation-of-cardiovascular-toxicity-of-vascular-endothelial-growth-factor-inhibitors
#5
Yen-Chou Chen, Cheng-Chih Chung, Yung-Kuo Lin, Yi-Jen Chen
Vascular endothelial growth factor (VEGF) inhibitors, including monoclonal antibodies and tyrosine kinase inhibitors (TKIs), are important as anticancer treatments through curbing tumor angiogenesis and growth. VEGF inhibitors have significant cardiovascular effects. By blocking VEGF receptors, ligands, or signal pathways, VEGF inhibitors disturb the balance between vasodilation and vasoconstriction, undermine endothelial cell integrity, and activate cardiomyocyte apoptosis. VEGF inhibitors increase risks of hypertension, heart failure, thromboembolism, and arrhythmia...
September 20, 2017: Annals of Medicine
https://www.readbyqxmd.com/read/28928973/prospective-replication-study-implicates-the-catechol-o-methyltransferase-val-158-met-polymorphism-as-a-biomarker-for-the-response-to-morphine-in-patients-with-cancer
#6
Hiromichi Matsuoka, Chihiro Makimura, Atsuko Koyama, Yoshihiko Fujita, Junji Tsurutani, Kiyohiro Sakai, Ryo Sakamoto, Kazuto Nishio, Kazuhiko Nakagawa
Genetic differences in humans cause clinical difficulties in opioid treatment. Previous studies indicate that a single nucleotide polymorphism in the catechol-O-methyltransferase (COMT) gene (rs4680; p.Val(158)Met) may present as a predictive biomarker for the response to morphine treatment. In our previous pilot exploratory study, patients with a G/G genotype were demonstrated to require a higher dose of morphine, compared with patients with A/A and A/G genotypes. In the present study, the aim was to replicate the findings in an independent cohort of opioid-treatment-naïve patients exhibiting various types of cancer...
October 2017: Biomedical Reports
https://www.readbyqxmd.com/read/28928763/comparative-mapping-and-candidate-gene-analysis-of-ssiia-associated-with-grain-amylopectin-content-in-barley-hordeum-vulgare-l
#7
Xiangyun Fan, Juan Zhu, Wenbin Dong, Yuandong Sun, Chao Lv, Baojian Guo, Rugen Xu
Amylopectin concentration in barley endosperm has important effects on grain quality and end-use. In this study, quantitative trait locus (QTL) analysis together with genome-wide association studies (GWAS) were performed to identify markers linked to grain amylopectin content respectively using a doubled haploid (DH) population of 178 lines and a collection of 185 diverse barley germplasms both genotyped by genotyping-by-sequencing (GBS). A stable QTL on chromosome 7H and 11 associated single nucleotide polymorphisms (SNPs) were detected...
2017: Frontiers in Plant Science
https://www.readbyqxmd.com/read/28928742/a-streamlined-approach-to-antibody-novel-germline-allele-prediction-and-validation
#8
Ben S Wendel, Chenfeng He, Peter D Crompton, Susan K Pierce, Ning Jiang
Advancements in high-throughput sequencing and molecular identifier-based error correction have opened the door to antibody repertoire sequencing with single mutation precision, increasing both the breadth and depth of immune response characterization. However, improvements in sequencing technology cannot resolve one key aspect of antibody repertoire sequencing accuracy: the possibility of undocumented novel germline alleles. Somatic hypermutation (SHM) calling requires a reference germline sequence, and the antibody variable region gene alleles collected by the IMGT database, although large in number, are not comprehensive...
2017: Frontiers in Immunology
https://www.readbyqxmd.com/read/28928439/polymorphisms-in-mica-but-not-in-depdc5-hcp5-or-pnpla3-are-associated-with-chronic-hepatitis-c-related-hepatocellular-carcinoma
#9
Hoang Hai, Akihiro Tamori, Le Thi Thanh Thuy, Kanako Yoshida, Atsushi Hagihara, Etsushi Kawamura, Sawako Uchida-Kobayashi, Hiroyasu Morikawa, Masaru Enomoto, Yoshiki Murakami, Norifumi Kawada
Recently, the MICA rs2596542 and DEPDC5 rs1012068 variants in Japanese individuals as well as the HCP5 rs2244546 and PNPLA3 rs738409 variants in European individuals have been found associated with hepatocellular carcinoma (HCC). The present study determined which single nucleotide polymorphism (SNP) is the most predictive for developing hepatitis C virus (HCV)-related HCC in a Japanese cohort. Of the 4 SNPs analysed, only the MICA genotypes were significantly associated with development of HCC (p = 0.0185)...
September 19, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28928212/population-and-whole-genome-sequence-based-characterization-of-invasive-group-a-streptococci-recovered-in-the-united-states-during-2015
#10
Sopio Chochua, Ben J Metcalf, Zhongya Li, Joy Rivers, Saundra Mathis, Delois Jackson, Robert E Gertz, Velusamy Srinivasan, Ruth Lynfield, Chris Van Beneden, Lesley McGee, Bernard Beall
Group A streptococci (GAS) are genetically diverse. Determination of strain features can reveal associations with disease and resistance and assist in vaccine formulation. We employed whole-genome sequence (WGS)-based characterization of 1,454 invasive GAS isolates recovered in 2015 by Active Bacterial Core Surveillance and performed conventional antimicrobial susceptibility testing. Predictions were made for genotype, GAS carbohydrate, antimicrobial resistance, surface proteins (M family, fibronectin binding, T, R28), secreted virulence proteins (Sda1, Sic, exotoxins), hyaluronate capsule, and an upregulated nga operon (encodes NADase and streptolysin O) promoter (Pnga3)...
September 19, 2017: MBio
https://www.readbyqxmd.com/read/28927471/a-vascular-endothelial-growth-factor-a-genetic-variant-is-associated-with-improved-ventricular-function-and-transplant-free-survival-after-surgery-for-non-syndromic-chd
#11
Constantine D Mavroudis, Daniel Seung Kim, Nancy Burnham, Alexandra H Morss, Jerry H Kim, Amber A Burt, David R Crosslin, Donna M McDonald-McGinn, Elaine H Zackai, Meryl S Cohen, Susan C Nicolson, Thomas L Spray, Ian B Stanaway, Deborah A Nickerson, Mark W Russell, Hakon Hakonarson, Gail P Jarvik, J William Gaynor
BACKGROUND: We have previously shown that the minor alleles of vascular endothelial growth factor A (VEGFA) single-nucleotide polymorphism rs833069 and superoxide dismutase 2 (SOD2) single-nucleotide polymorphism rs2758331 are both associated with improved transplant-free survival after surgery for CHD in infants, but the underlying mechanisms are unknown. We hypothesised that one or both of these minor alleles are associated with better systemic ventricular function, resulting in improved survival...
September 20, 2017: Cardiology in the Young
https://www.readbyqxmd.com/read/28927418/a-systematic-review-and-integrative-approach-to-decode-the-common-molecular-link-between-levodopa-response-and-parkinson-s-disease
#12
Debleena Guin, Manish Kumar Mishra, Puneet Talwar, Chitra Rawat, Suman S Kushwaha, Shrikant Kukreti, Ritushree Kukreti
BACKGROUND: PD is a progressive neurodegenerative disorder commonly treated by levodopa. The findings from genetic studies on adverse effects (ADRs) and levodopa efficacy are mostly inconclusive. Here, we aim to identify predictive genetic biomarkers for levodopa response (LR) and determine common molecular link with disease susceptibility. A systematic review for LR was conducted for ADR, and drug efficacy, independently. All included articles were assessed for methodological quality on 14 parameters...
September 19, 2017: BMC Medical Genomics
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
#13
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/28926565/a-snp-panel-and-online-tool-for-checking-genotype-concordance-through-comparing-qr-codes
#14
Yonghong Du, Joshua S Martin, John McGee, Yuchen Yang, Eric Yi Liu, Yingrui Sun, Matthias Geihs, Xuejun Kong, Eric Lingfeng Zhou, Yun Li, Jie Huang
In the current precision medicine era, more and more samples get genotyped and sequenced. Both researchers and commercial companies expend significant time and resources to reduce the error rate. However, it has been reported that there is a sample mix-up rate of between 0.1% and 1%, not to mention the possibly higher mix-up rate during the down-stream genetic reporting processes. Even on the low end of this estimate, this translates to a significant number of mislabeled samples, especially over the projected one billion people that will be sequenced within the next decade...
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
#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 (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/28924281/molecular-basi-of-superoxide-dismutase-alterations-in-spirometry-proven-bronchial-asthma
#16
Syed Hafeezul Hassan, Rubina Ghani, Muhammad Sarwar
OBJECTIVE: To study alterations in superoxide dismutase at molecular level in spirometry-proven bronchial asthma. METHODS: This pilot study was conducted at Baqai Medical University Hospital, Karachi, from June to December 2013, and comprised spirometry-proven asthmatics. The allele frequencies of missense polymorphisms of the exon-intron of a superoxide dismutase, copper-zinc superoxide dismutase were included in the analysis and compared with their age- and gender-matched healthy controls...
September 2017: JPMA. the Journal of the Pakistan Medical Association
https://www.readbyqxmd.com/read/28922609/serum-proteomic-variability-associated-with-clinical-phenotype-in-familial-transthyretin-amyloidosis-attrm
#17
Gloria G Chan, Clarissa M Koch, Lawreen H Connors
Transthyretin (TTR), normally a plasma circulating protein, can become misfolded and aggregated, ultimately leading to extracellular deposition of amyloid fibrils usually targeted to heart or nerve tissues. Referred to as TTR-associated amyloidoses (ATTR), this group of diseases is frequently life threatening and fatal if untreated. ATTR, caused by amyloid-forming variant TTR proteins (ATTRm) which arise from point mutations in the TTR gene, were classically referred to as familial amyloid cardiomyopathy (FAC) or familial amyloid polyneuropathy (FAP) reflecting the clinical phenotype...
September 18, 2017: Journal of Proteome Research
https://www.readbyqxmd.com/read/28921602/human-leukocyte-antigen-variants-and-risk-of-hepatocellular-carcinoma-modified-by-hcv-genotypes-a-genome-wide-association-study
#18
Mei-Hsuan Lee, Yu-Han Huang, Hsuan-Yu Chen, Charles Seik-Soon Khor, Ya-Hsuan Chang, Yu-Ju Lin, Chin-Lan Jen, Sheng-Nan Lu, Hwai-I Yang, Nao Nishida, Masaya Sugiyama, Masashi Mizokami, Yong Yuan, Gibert L'Italien, Katsushi Tokunaga, Chien-Jen Chen
BACKGROUND & AIMS: We conducted a genome-wide association study (GWAS) to discover genetic variants associated with hepatitis C virus (HCV)-related hepatocellular carcinoma (HCC). METHODS: We genotyped 502 HCC cases and 749 non-HCC controls by using the Axiom(TM) -CHB genome-wide array. After identifying single nucleotide polymorphism (SNP) cluster located in the human leukocyte antigen region which were potentially associated with HCC, HLA-DQB1 genotyping was performed to analyze 994 anti-HCV seropositives collected in the period of 1991-2013 in a community-based cohort for evaluating long-term predictability of HLA variants for identifying the risk of HCC...
September 16, 2017: Hepatology: Official Journal of the American Association for the Study of Liver Diseases
https://www.readbyqxmd.com/read/28920408/characterization-of-gene-expression-and-genetic-variation-of-horse-errfi1-in-thoroughbreds
#19
Jae-Young Choi, Hyun-Jun Jang, Jeong-Woong Park, Jae-Don Oh, Donghyun Shin, Nam Young Kim, Jin Hyeog Oh, Ki-Duk Song, Byung-Wook Cho
Objective: This study aimed to test the expression patterns of ERBB receptor feedback inhibitor 1 (ERRFI1) before and after exercise and the association of non-synonymous single-nucleotide polymorphisms (nsSNPs) of horse ERRFI1 with racing traits in Thoroughbreds. Methods: We performed bioinformatics and gene expression analyses for horse ERRFI1. Transcription factor (TF) binding sites in the 5'-regulatory region of this gene were identified through PROMO. A general linear model (GLM) was used to detect the association between the nsSNP (LOC42830758 A to G) and race performance...
September 18, 2017: Asian-Australasian Journal of Animal Sciences
https://www.readbyqxmd.com/read/28919695/%C3%AE-defensins-an-innate-defense-for-bovine-mastitis
#20
REVIEW
Ankita Gurao, Sudhir Kumar Kashyap, Ravinder Singh
Immune challenges are inevitable for livestock that are exposed to a varied range of adverse conditions ranging from environmental to pathogenic stresses. The β-defensins are antimicrobial peptides, belonging to "defensin" family and therefore acts as the first line of defense against the major infections occurring in dairy cattle including intramammary infections. The better resistance to mastitis displayed by Bos indicus is implicit in the fact that they have better adapted and also has more sequence variation with rare allele conserved due to lesser artificial selection pressure than that of Bos taurus...
August 2017: Veterinary World
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