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https://www.readbyqxmd.com/read/29458158/toll-like-receptor-tlr-9-promotor-polymorphisms-and-gene-expression-are-associated-with-persistent-staphylococcus-aureus-nasal-carriage
#1
Dennis Nurjadi, Klaus Heeg, Alexander N R Weber, Philipp Zanger
OBJECTIVES: Toll-like receptor (TLR) -9 could have importance in human S. aureus immunity, but population level evidence for this hypothesis is missing. METHODS: We phenotyped 603 volunteers for S. aureus nasal carriage using four consecutive swabs, genotyped TLR9 promotor variants in 106 persistent carriers and 219 non-carriers, measured TLR9-mRNA expression in whole blood after stimulation with viable S. aureus, and studied mutual associations of carriage, transcriptional activity, and single nucleotide polymorphisms while accounting for sex and hormonal contraceptive use (HCU+/- )...
February 16, 2018: Clinical Microbiology and Infection
https://www.readbyqxmd.com/read/29458155/determining-risk-of-colorectal-cancer-and-starting-age-of-screening-based-on-lifestyle-environmental-and-genetic-factors
#2
Jihyoun Jeon, Mengmeng Du, Robert E Schoen, Michael Hoffmeister, Polly A Newcomb, Sonja I Berndt, Bette Caan, Peter T Campbell, Andrew T Chan, Jenny Chang-Claude, Graham G Giles, Jian Gong, Tabitha A Harrison, Jeroen R Huyghe, Eric J Jacobs, Li Li, Yi Lin, Loïc Le Marchand, John D Potter, Flora Qu, Stephanie A Bien, Niha Zubair, Robert J Macinnis, Daniel D Buchanan, John L Hopper, Yin Cao, Reiko Nishihara, Gad Rennert, Martha L Slattery, Duncan C Thomas, Michael O Woods, Ross L Prentice, Stephen B Gruber, Yingye Zheng, Hermann Brenner, Richard B Hayes, Emily White, Ulrike Peters, Li Hsu
BACKGROUND & AIMS: Guidelines for initiating colorectal cancer (CRC) screening are based on family history but do not consider lifestyle, environmental, or genetic risk factors. We developed models to determine risk of CRC, based on lifestyle and environmental factors and genetic variants, and to identify an optimal age to begin screening. METHODS: We collected data from 9748 CRC cases and 10,590 controls in the Genetics and Epidemiology of Colorectal Cancer Consortium and the Colorectal Transdisciplinary study, from 1992 through 2005...
February 16, 2018: Gastroenterology
https://www.readbyqxmd.com/read/29458047/effects-of-cytochrome-p450-single-nucleotide-polymorphisms-on-methadone-metabolism-and-pharmacodynamics
#3
REVIEW
Taha Ahmad, Monica A Valentovic, Gary O Rankin
Methadone is a synthetic, long-acting opioid with a single chiral center forming two enantiomers, (R)-methadone and (S)-methadone, each having specific pharmacological actions. Concentrations of (R)- and (S)-methadone above therapeutic levels have the ability to cause serious, life-threatening, and fatal side effects. This toxicity can be due in part to the pharmacogenetics of an individual, which influences the pharmacokinetic and pharmacodynamic properties of the drug. Methadone is primarily metabolized in the liver by cytochrome P450 (CYP) enzymes, predominately by CYP2B6, followed by CYP3A4, 2C19, 2D6, and to a lesser extent, CYP2C18, 3A7, 2C8, 2C9, 3A5, and 1A2...
February 16, 2018: Biochemical Pharmacology
https://www.readbyqxmd.com/read/29458003/fgf-23-pth-and-vitamin-d-status-in-end-stage-renal-disease-patients-affected-by-vdr-foki-and-bsmi-variants
#4
Mouna Bouksila, Wajih Kaabachi, Mehdi Mrad, Wided Smaoui, Elhem Cheour El Kateb, Mohammed Karim Zouaghi, Kamel Hamzaoui, Afef Bahlous
OBJECTIVES: The aim of this study was to evaluate the association between two VDR SNPs FokI and BsmI and mineral status in ESRD patients. DESIGN AND METHODS: Our case-control study included 100 patients with chronic renal failure in ESRD and 149 healthy subjects. We measured the serum Vitamin D levels and the serum intact PTH level by Electrochemiluminescence Technology (cobas E411 analyzer). We evaluated the serum FGF23 levels by indirect ELISA method. The genotyping of two VDR gene variants FokI and BsmI was carried out by PCR-RFLP technique...
February 16, 2018: Clinical Biochemistry
https://www.readbyqxmd.com/read/29457840/population-pharmacokinetics-and-pharmacogenomics-of-apixaban-in-japanese-adult-patients-with-atrial-fibrillation
#5
Satoshi Ueshima, Daiki Hira, Yuuma Kimura, Ryo Fujii, Chiho Tomitsuka, Takuya Yamane, Yohei Tabuchi, Tomoya Ozawa, Hideki Itoh, Seiko Ohno, Minoru Horie, Tomohiro Terada, Toshiya Katsura
AIMS: This study aimed to analyse the effects of genetic polymorphisms in drug transporters and metabolising enzymes, and clinical laboratory data on the pharmacokinetic parameters of apixaban. METHODS: Data were collected from 81 Japanese patients with atrial fibrillation. Pharmacogenomic data were stratified by ABCB1, ABCG2, and CYP3A5 polymorphisms. The pharmacokinetic profile of apixaban was described by a one-compartment model with first-order absorption. Population pharmacokinetic analysis was conducted using non-linear mixed effect modelling (NONMEM™) program...
February 19, 2018: British Journal of Clinical Pharmacology
https://www.readbyqxmd.com/read/29457789/a-common-variant-alters-scn5a-mir-24-interaction-and-associates-with-heart-failure-mortality
#6
Xiaoming Zhang, Jin-Young Yoon, Michael Morley, Jared M McLendon, Kranti A Mapuskar, Rebecca Gutmann, Haider Mehdi, Heather L Bloom, Samuel C Dudley, Patrick T Ellinor, Alaa A Shalaby, Raul Weiss, W H Wilson Tang, Christine S Moravec, Madhurmeet Singh, Anne L Taylor, Clyde W Yancy, Arthur M Feldman, Dennis M McNamara, Kaikobad Irani, Douglas R Spitz, Patrick Breheny, Kenneth B Margulies, Barry London, Ryan L Boudreau
SCN5A encodes the voltage-gated Na+ channel NaV1.5 that is responsible for depolarization of the cardiac action potential and rapid intercellular conduction. Mutations disrupting the SCN5A coding sequence cause inherited arrhythmias and cardiomyopathy, and single-nucleotide polymorphisms (SNPs) linked to SCN5A splicing, localization, and function associate with heart failure-related sudden cardiac death. However, the clinical relevance of SNPs that modulate SCN5A expression levels remains understudied. We recently generated a transcriptome-wide map of microRNA (miR) binding sites in human heart, evaluated their overlap with common SNPs, and identified a synonymous SNP (rs1805126) adjacent to a miR-24 site within the SCN5A coding sequence...
February 19, 2018: Journal of Clinical Investigation
https://www.readbyqxmd.com/read/29457581/association-between-tlr2-2477g-a-polymorphism-and-bacterial-meningitis-a-meta-analysis
#7
Xiaochun Jin, Shuzhou Yin, Youtao Zhang, Xu Chen
Toll-like receptor 2 (TLR2) is a key member of TLRs, which is crucial in the initial inflammatory response against bacteria. TLR2, is also the initial barrier against bacterial infection and plays an important role in recognising a variety of bacterial lipoproteins. Several studies have been performed to investigate the TLR2 + 2477G/A polymorphism and bacterial meningitis susceptibility. Unfortunately, the results of previous studies were controversial. Therefore, we performed a meta-analysis to derive a more precise estimation of the association...
February 19, 2018: Epidemiology and Infection
https://www.readbyqxmd.com/read/29457528/quantitative-trait-loci-influencing-hb-f-levels-in-southern-thai-hb-e-hbb-c-79g-a-heterozygotes
#8
Aumpika Kesornsit, Nutjaree Jeenduang, Dararat Horpet, Thunyaluk Plyduang, Manit Nuinoon
Variation of fetal hemoglobin (Hb F) expression in heterozygous Hb E (HBB: c.79G>A) individuals is associated with several genetic modifiers and not well understood. This study was undertaken in order to determine the effect of single nucleotide polymorphisms (SNPs), including XmnIG γ (rs7482144), rs766432 on the BCL11A gene and rs9376074 on the HBS1L gene, on Hb F levels in Southern Thai heterozygous Hb E individuals. A total of 97 Southern Thai subjects carrying heterozygous Hb E were selected for the hematological study...
February 19, 2018: Hemoglobin
https://www.readbyqxmd.com/read/29457277/polymorphisms-of-cyp27b1-are-associated-with-ifn-efficacy-in-hbeag-positive-patients
#9
Yingying Wu, Yongbin Zeng, Wennan Wu, Jinpiao Lin, Qishui Ou
BACKGROUND: Host single nucleotide polymorphisms were associated with antiviral therapy in CHB patients. The CYP27B1 gene, encoding 25(OH)D3 -1α hydroxylase, might activate 25(OH)D3 to 1,25(OH)2 D3 in kidney resulted in influencing the efficacy of interferon (IFN). The aim of the study was to investigate the association between CYP27B1 polymorphisms and the response to IFN in HBeAg-positive patients. METHODS: Eighty-seven HBeAg-positive CHB patients infected with HBV genotype B or C were included in the study...
February 18, 2018: Journal of Clinical Laboratory Analysis
https://www.readbyqxmd.com/read/29457272/atopic-dermatitis-in-diverse-racial-and-ethnic-groups-variations-in-epidemiology-genetics-clinical-presentation-and-treatment
#10
REVIEW
Bridget P Kaufman, Emma Guttman-Yassky, Andrew F Alexis
Atopic dermatitis (AD) is a chronic inflammatory skin condition that affects diverse ethnic groups with varying prevalence. Despite a predominance of studies in individuals of European ancestry, AD has been found to occur more frequently in Asian and black individuals than whites. Therefore, an understanding of the unique clinical features of AD in diverse ethnic groups, as well as the differences in genetic polymorphisms that influence susceptibility to AD and response to current therapies, is paramount for management of an increasingly diverse patient population...
February 19, 2018: Experimental Dermatology
https://www.readbyqxmd.com/read/29456699/correlation-between-survivin-polymorphism-and-acute-leukemia-of-children
#11
Wei-Xi Li, Yong-Kun Li, Hai-Tao Lin
The correlation between the variations in the polymorphic sites of survivin, rs9904341C/G and rs8073069C/G, and the pathogenesis of acute leukemia, as well as the guiding significance in clinical practice were investigated. We enrolled a total of 182 children with acute leukemia and 200 healthy children as the subjects. In accordance with the case-control method, the polymerase chain reaction was carried out for genetic typing of the two polymorphic sites, rs9904341C/G and rs8073069C/G. In the case group and the healthy group, the frequencies of C and G alleles in rs9904341C/G of survivin were 59...
March 2018: Experimental and Therapeutic Medicine
https://www.readbyqxmd.com/read/29456680/correlation-of-vitamin-d-receptor-with-bronchial-asthma-in-children
#12
Chunlei Hou, Xiaoli Zhu, Xiangyun Chang
This study was designed to investigate the correlation of vitamin D receptor (VDR) gene polymorphism with bronchial asthma in children. Seventy patients admitted to Daqing Longnan Hospital and diagnosed as bronchial asthma for the first time from April 2015 to May 2017 were selected as observation group. Patients received routine treatment and intervention. Seventy healthy subjects admitted to hospital during the same period were enrolled as the control group. Vitamin D gene polymorphism was detected by polymerase chain reaction-restriction fragment length polymorphism assay; the levels of total serum immunoglobulin E (IgE) in the two groups were determined by electrochemiluminescence immunoassay; lung function levels in patients were measured using PowerCube (Germany) pulmonary function instrument before and after treatment, and the relationship between VDR gene polymorphism and lung function in children with bronchial asthma was analyzed...
March 2018: Experimental and Therapeutic Medicine
https://www.readbyqxmd.com/read/29456530/donor-genotype-in-the-interleukin-7-receptor-%C3%AE-chain-predicts-risk-of-graft-versus-host-disease-and-cytomegalovirus-infection-after-allogeneic-hematopoietic-stem-cell-transplantation
#13
Katrine Kielsen, Christian Enevold, Carsten Heilmann, Henrik Sengeløv, Anders Elm Pedersen, Lars P Ryder, Klaus Müller
The efficacy of allogeneic hematopoietic stem cell transplantation (HSCT) is challenged by acute and chronic graft-versus-host disease (aGVHD and cGVHD) and viral infections due to long-lasting immunodeficiency. Interleukin-7 (IL-7) is a cytokine essential for de novo T cell generation in thymus and peripheral T cell homeostasis. In this study, we investigated the impact of the single nucleotide polymorphism rs6897932 in the IL-7 receptor α-chain (IL-7Rα) which has previously been associated with several autoimmune diseases...
2018: Frontiers in Immunology
https://www.readbyqxmd.com/read/29456407/analysis-of-hepatitis-b-virus-pres1-variability-and-prevalence-of-the-rs2296651-polymorphism-in-a-spanish-population
#14
Rosario Casillas, David Tabernero, Josep Gregori, Irene Belmonte, Maria Francesca Cortese, Carolina González, Mar Riveiro-Barciela, Rosa Maria López, Josep Quer, Rafael Esteban, Maria Buti, Francisco Rodríguez-Frías
AIM: To determine the variability/conservation of the domain of hepatitis B virus (HBV) preS1 region that interacts with sodium-taurocholate cotransporting polypeptide (hereafter, NTCP-interacting domain) and the prevalence of the rs2296651 polymorphism (S267F, NTCP variant) in a Spanish population. METHODS: Serum samples from 246 individuals were included and divided into 3 groups: patients with chronic HBV infection (CHB) ( n = 41, 73% Caucasians), patients with resolved HBV infection ( n = 100, 100% Caucasians) and an HBV-uninfected control group ( n = 105, 100% Caucasians)...
February 14, 2018: World Journal of Gastroenterology: WJG
https://www.readbyqxmd.com/read/29456405/role-of-ptpn2-22-polymorphisms-in-pathophysiology-of-crohn-s-disease
#15
Robert C Sharp, Shazia A Beg, Saleh A Naser
AIM: To establish the relationship of protein tyrosine phosphatase non-receptor type 2 and 22 ( PTPN2/22 ) polymorphisms and mycobacterial infections in Crohn's disease (CD). METHODS: All 133 subjects' blood samples were genotyped for nine single nucleotide polymorphisms (SNPs) in PTPN2/22 using TaqMan™ genotyping, while the effect of the SNPs on PTPN2/22 and IFN- γ gene expression was determined using RT-PCR. Detection of Mycobacterium avium subspecies paratuberculosis (MAP) IS900 gene was done by nPCR after DNA extraction from the isolated leukocytes of each subjects' blood samples...
February 14, 2018: World Journal of Gastroenterology: WJG
https://www.readbyqxmd.com/read/29455790/insertion-deletion-polymorphism-of-ace-gene-in-females-with-peripartum-cardiomyopathy-a-case-control-study
#16
Irfan Yaqoob, Nisar A Tramboo, Irfan A Bhat, Arshad Pandith, Jahangir R Beig, Imran Hafeez, Aijaz A Lone, Tariq R Shah, Sumera Samreen
BACKGROUND: The role of polymorphism of Angiotensin converting enzyme (ACE) gene and ACE activity in etiopathogenesis, prognosis, and many other clinical parameters in the various form of the cardiovascular disease has been established to some degree of certainty. The pathophysiology of Peripartum cardiomyopathy (PPCM) remains an area of active research. The main aim of our study was to see pattern of ACE- Insertion/Deletion (I/D) allele in PPCM and its implications on left ventricular performance indices...
January 2018: Indian Heart Journal
https://www.readbyqxmd.com/read/29455641/circadian-pathway-genetic-variation-and-cancer-risk-evidence-from-genome-wide-association-studies
#17
Simone Mocellin, Saveria Tropea, Clara Benna, Carlo Riccardo Rossi
BACKGROUND: Dysfunction of the circadian clock and single polymorphisms of some circadian genes have been linked to cancer susceptibility, although data are scarce and findings inconsistent. We aimed to investigate the association between circadian pathway genetic variation and risk of developing common cancers based on the findings of genome-wide association studies (GWASs). METHODS: Single nucleotide polymorphisms (SNPs) of 17 circadian genes reported by three GWAS meta-analyses dedicated to breast (Discovery, Biology, and Risk of Inherited Variants in Breast Cancer (DRIVE) Consortium; cases, n = 15,748; controls, n = 18,084), prostate (Elucidating Loci Involved in Prostate Cancer Susceptibility (ELLIPSE) Consortium; cases, n = 14,160; controls, n = 12,724) and lung carcinoma (Transdisciplinary Research In Cancer of the Lung (TRICL) Consortium; cases, n = 12,160; controls, n = 16,838) in patients of European ancestry were utilized to perform pathway analysis by means of the adaptive rank truncated product (ARTP) method...
February 19, 2018: BMC Medicine
https://www.readbyqxmd.com/read/29455452/cannabinoids-in-arterial-pulmonary-and-portal-hypertension-mechanisms-of-action-and-potential-therapeutic-significance
#18
REVIEW
Barbara Malinowska, Marek Toczek, Anna Pędzińska-Betiuk, Eberhard Schlicker
The endocannabinoid system is overactivated in arterial, pulmonary and portal hypertension. In this paper, we present limited clinical data concerning the role of cannabinoids in human hypertension including polymorphism of endocannabinoid system components. We underline differences between the acute cannabinoid administration and their potential hypotensive effect after chronic application in experimental hypertension. We discuss pleiotropic effects of cannabinoids on the cardiovascular system mediated via numerous neuronal and non-neuronal mechanisms both in normo- and in hypertension...
February 18, 2018: British Journal of Pharmacology
https://www.readbyqxmd.com/read/29455378/age-related-hearing-impairment-associated-nat2-grm7-grhl2-susceptibility-gene-polymorphisms-and-haplotypes-in-roma-and-hungarian-populations
#19
Petra Matyas, Etelka Postyeni, Katalin Komlosi, Renata Szalai, Judit Bene, Lili Magyari, Bela Melegh, Kinga Hadzsiev
Age-related hearing impairment (ARHI) is the most frequent sensory disease in the elderly, which is caused by an interaction between genetic and environmental factors. Here we examined the ethnic differences, allele and genotype frequencies of the NAT2, GRM7, and GRHL2 genes pooled samples of healthy Hungarian and healthy and hearing impaired Roma people. Study populations of healthy Hungarian and Roma subjects were characterized for the rs1799930 NAT2, rs11928865 GRM7, rs10955255, rs13263539, and rs1981361 GRHL2 polymorphisms and deaf Roma subjects were characterized for the rs1799930 NAT2, rs13263539, and rs1981361 GRHL2 using a PCR-RFLP method...
February 17, 2018: Pathology Oncology Research: POR
https://www.readbyqxmd.com/read/29455339/analysis-of-comt-val158met-polymorphisms-and-methylation-in-chinese-male-schizophrenia-patients-with-homicidal-behavior
#20
Yikai Hu, Chenghu Li, Yangfan Wang, Qinhan Li, Yidong Liu, Shengde Liao, Peiqing Cao, Hongmei Xu
Schizophrenia is a severe mental disorder, and its mechanisms have not been fully elucidated. A functional single nucleotide polymorphism (SNP) present in the catechol-O-methyltransferase (COMT) gene, Val158Met (rs4680) (Chr22: 19,963,498), is possibly related to the violent behavior of schizophrenia patients. However, the specific variant that causes violent behavior is still unknown. Since the Val variation of Val158Met (rs4680) introduces a CG site into the sequence, the methylation level of the Val158Met (rs4680) region may also have an association with the homicidal behavior of schizophrenia patients...
February 17, 2018: International Journal of Legal Medicine
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