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https://www.readbyqxmd.com/read/29793041/-selenoproteins-in-colon-cancer
#1
REVIEW
Kristin M Peters, Bradley A Carlson, Vadim N Gladyshev, Petra A Tsuji
Selenocysteine-containing proteins (selenoproteins) have been implicated in the regulation of various cell signaling pathways, many of which are linked to colorectal malignancies. In this in-depth excurse into the selenoprotein literature, we review possible roles for human selenoproteins in colorectal cancer, focusing on the typical hallmarks of cancer cells and their tumor-enabling characteristics. Human genome studies of single nucleotide polymorphisms in various genes coding for selenoproteins have revealed potential involvement of glutathione peroxidases, thioredoxin reductases, and other proteins...
May 21, 2018: Free Radical Biology & Medicine
https://www.readbyqxmd.com/read/29792983/impact-of-genetic-influence-on-serum-total-and-free-25-hydroxyvitamin-d-in-humans
#2
Balázs Szili, Boglárka Szabó, Péter Horváth, Bence Bakos, Györgyi Kirschner, János P Kósa, Erzsébet Toldy, Zsuzsanna Putz, Péter Lakatos, Ádám Tabák, István Takács
Serum 25-hydroxyvitamin D /25OHD/ levels in humans are determined primarily by environmental factors such as UV-B radiation and diet, including vitamin D intake. Although some genetic determinants of 25OHD levels have been shown, the magnitude of this association has not yet been clarified. The present study evaluates the genetic contribution to total- /t-25OHD/ and free-25OHD /f-25OHD/ in a representative sample of the Hungarian population (n = 462). The study was performed at the end of winter to minimize the effect of sunlight, which is a major determinant of serum vitamin D levels...
May 21, 2018: Journal of Steroid Biochemistry and Molecular Biology
https://www.readbyqxmd.com/read/29792895/pharmacogenomics-of-drug-induced-liver-injury-dili-molecular-biology-to-clinical-applications
#3
REVIEW
Kalaiyarasi Kaliyaperumal, Jane I Grove, Robin M Delahay, William J H Griffiths, Adam Duckworth, Guruprasad P Aithal
A number of drug-specific and host-related factors contribute to the development of drug-induced liver injury (DILI). Investigations focused on genetic susceptibility to DILI have advanced our understanding of the pathogenesis of this rare, yet potentially life-threatening adverse reaction. Candidate gene studies involving well-characterized patients with DILI and drug-exposed controls have identified single nucleotide polymorphisms (SNPs) affecting the metabolism and clearance of specific drugs and hence, influencing individual's susceptibility to DILI...
May 21, 2018: Journal of Hepatology
https://www.readbyqxmd.com/read/29792872/association-of-glucocerebrosidase-polymorphisms-and-mutations-with-dementia-in-incident-parkinson-s-disease
#4
Kristin Aaser Lunde, Janete Chung, Ingvild Dalen, Kenn Freddy Pedersen, Jan Linder, Magdalena E Domellöf, Eva Elgh, Angus D Macleod, Charalampos Tzoulis, Jan Petter Larsen, Ole-Bjørn Tysnes, Lars Forsgren, Carl E Counsell, Guido Alves, Jodi Maple-Grødem
INTRODUCTION: Both polymorphisms and mutations in glucocerebrosidase (GBA) may influence the development of dementia in patients with Parkinson's disease. METHODS: Four hundred forty-two patients and 419 controls were followed for 7 years. Dementia was diagnosed using established criteria. Participants were analyzed for GBA genetic variants, including E326K, T369M, and L444P. Associations between GBA carrier status and dementia were assessed with Cox survival analysis...
May 21, 2018: Alzheimer's & Dementia: the Journal of the Alzheimer's Association
https://www.readbyqxmd.com/read/29792870/peripheral-complement-interactions-with-amyloid-%C3%AE-peptide-in-alzheimer-s-disease-polymorphisms-structure-and-function-of-complement-receptor-1
#5
Jenny U Johansson, William D Brubaker, Harold Javitz, Andrew W Bergen, Denise Nishita, Abhishek Trigunaite, Andrés Crane, Justine Ceballos, Diego Mastroeni, Andrea J Tenner, Marwan Sabbagh, Joseph Rogers
INTRODUCTION: Genome-wide association studies consistently show that single nucleotide polymorphisms (SNPs) in the complement receptor 1 (CR1) gene modestly but significantly alter Alzheimer's disease (AD) risk. Follow-up research has assumed that CR1 is expressed in the human brain despite a paucity of evidence for its function there. Alternatively, erythrocytes contain >80% of the body's CR1, where, in primates, it is known to bind circulating pathogens. METHODS: Multidisciplinary methods were employed...
May 21, 2018: Alzheimer's & Dementia: the Journal of the Alzheimer's Association
https://www.readbyqxmd.com/read/29792847/the-polymorphisms-of-atoh-7-et-1-and-ace-in-non-arteritic-anterior-ischemic-optic-neuropathy
#6
Ting Chen, Jin Ma, Guangliang Shan, Yong Zhong
Non-arteritic anterior ischemic optic neuropathy (NAION) is a common cause of acute optic neuropathy in the elderly. The role of the genetic polymorphisms of Atonal Homolog 7 (ATOH7), Endothelin-1 (ET-1) and Angiotensin Converting Enzyme (ACE) in NAION and the combined effects of the gene-gene and gene-medical comorbidities on NAION were not clear. We conducted a perspective, case-control study. 71 NAION patients and 142 age and sex-matched healthy controls were enrolled. Single nucleotide polymorphisms of ATOH7 (rs1900004), ET-1 (rs5370) and ACE (rs1799752) were identified by polymerase chain reaction (PCR) method and all PCR products were screened with Sanger sequencing...
May 21, 2018: Experimental Eye Research
https://www.readbyqxmd.com/read/29792538/single-nucleotide-polymorphisms-in-il23r-il12rb2-rs1495965-are-highly-prevalent-in-patients-with-behcet-s-uveitis-and-vary-between-populations
#7
Michal Kramer, Murat Hasanreisoglu, Shirel Weiss, Deniz Kumova, Michal Schaap-Fogler, Sezen Guntekin-Ergun, Sengul Ozdek, Gokhan Gurelik, Mehmet Ali Ergün, Nitza Goldenberg-Cohen, Yoram Cohen
PURPOSE: To test the frequency of single-nucleotide polymorphisms in the IL-10, IL23R-IL12RB2 genes in patients with Behcet's uveitis. METHODS: Blood samples were collected from 89 Israeli and Turkish patients, and from healthy control subjects of different origins. Genomic DNA was extracted from peripheral blood leukocytes and genotyped. RESULTS: The risk allele, A, in rs1800871, of IL-10 gene was highly prevalent in Behcet's uveitis and healthy control samples alike; highest among the Turkish groups...
May 24, 2018: Ocular Immunology and Inflammation
https://www.readbyqxmd.com/read/29792231/high-burden-of-birthweight-lowering-genetic-variants-in-africans-and-asians
#8
Fasil Tekola-Ayele, Tsegaselassie Workalemahu, Azmeraw T Amare
BACKGROUND: Birthweight is an important predictor of infant morbidity and mortality, and is associated with cardiovascular diseases, obesity, and diabetes in childhood and adulthood. Birthweight and fetal growth show regional and population variations even under similar maternal conditions, and a large proportion of these differences are not explained by environmental factors. Whether and to what extent population genetic variations at key birthweight-associated loci account for the residual birthweight disparities not explained by environmental determinants is unknown...
May 24, 2018: BMC Medicine
https://www.readbyqxmd.com/read/29792207/metagenomic-analysis-of-viruses-associated-with-maize-lethal-necrosis-in-kenya
#9
Mwathi Jane Wamaitha, Deepti Nigam, Solomon Maina, Francesca Stomeo, Anne Wangai, Joyce Njoki Njuguna, Timothy A Holton, Bramwel W Wanjala, Mark Wamalwa, Tanui Lucas, Appolinaire Djikeng, Hernan Garcia-Ruiz
BACKGROUND: Maize lethal necrosis is caused by a synergistic co-infection of Maize chlorotic mottle virus (MCMV) and a specific member of the Potyviridae, such as Sugarcane mosaic virus (SCMV), Wheat streak mosaic virus (WSMV) or Johnson grass mosaic virus (JGMV). Typical maize lethal necrosis symptoms include severe yellowing and leaf drying from the edges. In Kenya, we detected plants showing typical and atypical symptoms. Both groups of plants often tested negative for SCMV by ELISA...
May 23, 2018: Virology Journal
https://www.readbyqxmd.com/read/29792158/landraces-of-snake-melon-an-ancient-middle-eastern-crop-reveal-extensive-morphological-and-dna-diversity-for-potential-genetic-improvement
#10
Samer Omari, Yuri Kamenir, Jennifer I C Benichou, Sarah Pariente, Hanan Sela, Rafael Perl-Treves
BACKGROUND: Snake melon (Cucumis melo var. flexuosus, "Faqqous") is a traditional and ancient vegetable in the Mediterranean area. A collection of landraces from 42 grower fields in Israel and Palestinian territories was grown and characterized in a "Common Garden" rain-fed experiment, at the morphological-horticultural and molecular level using seq-DArT markers. RESULTS: The different landraces ("populations") showed extensive variation in morphology and quantitative traits such as yield and femaleness, and clustered into four horticultural varieties...
May 23, 2018: BMC Genetics
https://www.readbyqxmd.com/read/29792121/abcg2-polymorphism-rs2231142-and-hypothyroidism-in-metastatic-renal-cell-carcinoma-patients-treated-with-sunitinib
#11
Emilie Werbrouck, Julie Bastin, Diether Lambrechts, Annelies Verbiest, Thomas Van Brussel, Evelyne Lerut, Jean-Pascal Machiels, Vincent Verschaeve, Vincent Richard, Philip R Debruyne, Brigitte Decallonne, Patrick Schöffski, Oliver Bechter, Pascal Wolter, Benoit Beuselinck
Background and aim Vascular endothelial growth factor receptor tyrosine kinase inhibitors (VEGFR-TKIs) cause significant adverse events including thyroid dysfunction, mainly hypothyroidism, in a considerable proportion of patients. In a series of metastatic renal cell carcinoma (mRCC) patients treated with sunitinib, we aimed to study the correlation between hypothyroidism and single nucleotide polymorphisms (SNPs) in genes involved in sunitinib pharmacokinetics and pharmacodynamics. Patients and methods We included 79 mRCC patients who started sunitinib between November 2005 and March 2016...
May 23, 2018: Acta Clinica Belgica
https://www.readbyqxmd.com/read/29792046/annals-express-fast-screening-of-n-glycosylation-disorders-by-sialotransferrin-profiling-with-capillary-zone-electrophoresis
#12
Hermi A Kingma, Fjodor H Van der Sluijs, Rebecca M Heiner-Fokkema
BACKGROUND: Congenital disorders of glycosylation (CDG) are a growing group of rare genetic disorders. The most frequently used screening method is sialotransferrin profiling using isoelectric focussing (IEF). Capillary zone electrophoresis (CZE) may be a simple and fast alternative. We investigated the Capillarys ¬T M CDT assay (Sebia, France) to screen for N-glycosylation disorders, using IEF as gold standard. METHODS: Intra- and interassay precision were established, and analyses in heparin-anticoagulated plasma and serum were compared...
January 1, 2018: Annals of Clinical Biochemistry
https://www.readbyqxmd.com/read/29791922/p2y12-polymorphisms-and-the-risk-of-adverse-clinical-events-in-patients-treated-with-clopidogrel-a-meta-analysis
#13
Kun Zhao, Ming Yang, Yanxia Lu, Shusen Sun, Wei Li, Xingang Li, Zhigang Zhao
BACKGROUND AND STUDY AIM: Some studies have reported an association between P2Y12 gene polymorphisms and clopidogrel adverse outcomes with inconsistent results. We aimed to explore the relationship between P2Y12 polymorphisms and the risk of adverse clinical events in patients treated with clopidogrel through a meta-analysis. METHODS: A systematic search of PubMed, Web of Science and the Cochrane Library was conducted. Retrieved articles were comprehensively reviewed and eligible studies were included, and the relevant data was extracted for this meta-analysis...
May 23, 2018: Drug Research
https://www.readbyqxmd.com/read/29791912/differential-expression-of-micrornas-in-breast-cancers-from-four-different-ethnicities
#14
Jennifer Pollard, Phil A Burns, Tom A Hughes, Colan Ho-Yen, J Louise Jones, Geetashree Mukherjee, Ganiat O Omoniyi-Esan, Nicholas Akinwale Titloye, Valerie Speirs, Abeer M Shaaban
INTRODUCTION: Breast cancer outcomes vary across different ethnic groups. MicroRNAs (miRs) are small non-coding RNA molecules that regulate gene expression across a range of pathologies, including breast cancer. The aim of this study was to evaluate the presence and expression of miRs in breast cancer samples from different ethnic groups. MATERIALS AND METHODS: Breast cancer tissue from 4 ethnic groups, i.e., British Caucasian, British Black, Nigerian, and Indian, were identified and matched for patients' age, tumour grade/type, and 10 × 10 µm sections taken...
May 23, 2018: Pathobiology: Journal of Immunopathology, Molecular and Cellular Biology
https://www.readbyqxmd.com/read/29791776/polymorphism-in-disease-related-apolipoprotein-c-ii-amyloid-fibrils-a-structural-model-for-rod-like-fibrils
#15
Courtney O Zlatic, Yu Mao, Nevena Todorova, Yee-Foong Mok, Geoffrey J Howlett, Irene Yarovsky, Paul R Gooley, Michael D W Griffin
Human apolipoprotein (apo) C-II is one of several plasma apolipoproteins that form amyloid deposits in vivo and is an independent risk factor for cardiovascular disease. Lipid-free apoC-II readily self-assembles into twisted-ribbon amyloid fibrils but forms straight, rod-like amyloid fibrils in the presence of low concentrations of micellar phospholipids. Charge mutations exerted significantly different effects on rod-like fibril formation compared to their effects on twisted-ribbon fibril formation. For instance, the double mutant K30D, D69K apoC-II readily formed twisted-ribbon fibrils, while the rate of rod-like fibril formation in the presence of micellar phospholipid was negligible...
May 23, 2018: FEBS Journal
https://www.readbyqxmd.com/read/29791710/postoperative-pain-and-analgesia-is-there-a-genetic-basis-to-the-opioid-crisis
#16
Randa K Elmallah, Prem N Ramkumar, Anton Khlopas, Rathika R Ramkumar, Morad Chughtai, Nipun Sodhi, Assem A Sultan, Michael A Mont
BACKGROUND: Multiple factors have been implicated in determining why certain patients have increased postoperative pain, with the potential to develop chronic pain. The purpose of this study was to: 1) identify and describe genes that affect postoperative pain perception and control; 2) address modifiable risk factors that result in epigenetic altered responses to pain; and 3) characterize differences in pain sensitivity and thresholds between opioid-naïve and opioid-dependent patients...
June 1, 2018: Surgical Technology International
https://www.readbyqxmd.com/read/29791666/prevalence-of-polymorphisms-in-the-ankk1-drd2-drd3-genes-and-metabolic-syndrome-in-refractory-schizophrenia
#17
Jeizziani Aparecida Ferreira Pinto, Pedro Henrique Batista de Freitas, Fernanda Daniela Dorneles Nunes, Paulo Afonso Granjeiro, Luciana Lara Dos Santos, Richardson Miranda Machado
OBJECTIVE: to estimate the prevalence of TaqIA, -141C and rs6280 polymorphisms of the ANKK1, DRD2 and DRD3 genes and evaluate their association with the occurrence of metabolic syndrome in patients with refractory schizophrenia. METHOD: cross-sectional study conducted in the Extended Western Region of Minas Gerais, with refractory schizophrenic patients using the antipsychotic clozapine. Sociodemographic, clinical, anthropometric, biochemical and genetic data were collected...
2018: Revista Latino-americana de Enfermagem
https://www.readbyqxmd.com/read/29791609/association-between-multidrug-resistance-1-c3435t-gene-polymorphism-and-right-ventricular-dysfunction-in-patients-with-chronic-obstructive-pulmonary-disease-cross-sectional-study
#18
Oğuzhan Yücel, Hakan Güneş, Hasan Yücel, Ali Zorlu
BACKGROUND: Right ventricular (RV) dysfunction may develop over the course of chronic obstructive pulmonary disease (COPD) and is an important predictor of morbidity and mortality. Polymorphism of the multidrug resistance-1 (MDR-1) gene has been correlated with worse clinical findings among patients with COPD. Our aim here was to investigate the relationship between MDR-1 C3435T gene polymorphism and RV dysfunction in COPD patients. DESIGN AND SETTING: This was a cross-sectional study investigating the relationship between RV dysfunction and genetic defects in COPD patients...
March 2018: São Paulo Medical Journal, Revista Paulista de Medicina
https://www.readbyqxmd.com/read/29791587/association-study-of-aff1-rs340630-polymorphism-with-genetic-susceptibility-to-rheumatoid-arthritis-in-chinese-population
#19
Qing-Qing Sun, Dong-Jin Hua, Si-Chao Huang, Han Cen, Li Zhou, Song Shao
This study was performed to examine whether the AF4/FMR2 family, member 1 (AFF1) rs340630 polymorphism is involved in the genetic background of rheumatoid arthritis (RA) in a Chinese population. Two different study groups of RA patients and controls (328 RA patients and 449 healthy controls in the first study group; 232 RA patients and 313 controls in the second study group) were included in our study. Overall, there was no significant difference in either genotype (P=0.71 and 0.64 in the first and second study group, respectively) nor allele (in the first study group: A vs G, P=0...
2018: Brazilian Journal of Medical and Biological Research, Revista Brasileira de Pesquisas Médicas e Biológicas
https://www.readbyqxmd.com/read/29791568/assessing-the-association-between-hypoxia-during-craniofacial-development-and-oral-clefts
#20
Erika Calvano Küchler, Lea Assed da Silva, Paulo Nelson-Filho, Ticiana M Sabóia, Angela M Rentschler, José Mauro Granjeiro, Driely Oliveira, Patricia N Tannure, Raquel Assed da Silva, Leonardo Santos Antunes, Michael Tsang, Alexandre R Vieira
Objectives To evaluate the association between hypoxia during embryo development and oral clefts in an animal model, and to evaluate the association between polymorphisms in the HIF-1A gene with oral clefts in human families. Material and Methods The study with the animal model used zebrafish embryos at 8 hours post-fertilization submitted to 30% and 50% hypoxia for 24 hours. At 5 days post-fertilization, the larvae were fixed. The cartilage structures were stained to evaluate craniofacial phenotypes. The family-based association study included 148 Brazilian nuclear families with oral clefts...
2018: Journal of Applied Oral Science: Revista FOB
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