keyword
MENU ▼
Read by QxMD icon Read
search

genetic polymorphism

keyword
https://www.readbyqxmd.com/read/28320150/additional-evidence-supports-association-of-common-genetic-variants-in-vti1a-and-etfa-with-increased-risk-of-glioma-susceptibility
#1
Ning Wang, Zhong Deng, Maode Wang, Ruichun Li, Gaofeng Xu, Gang Bao
BACKGROUND: VTI1A and ETFA were identified recently as susceptibility genes for non-glioblastoma (GBM) of glioma risk in European populations, but the genetic etiology and pathogenesis of glioma have not been fully elucidated. Here, we aimed to investigate whether common genetic variants in VTI1A and ETFA predispose Han Chinese individuals to glioma. METHODS: The association of thirteen common tagging single nucleotide polymorphisms (SNPs) in VTI1A and ETFA genes with glioma were assessed in a hospital-based case-control study including 473 non-GBM of glioma patients and 1046 cancer-free controls...
April 15, 2017: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/28319697/genetic-variants-of-the-kynurenine-3-monooxygenase-and-postpartum-depressive-symptoms-after-cesarean-section-in-chinese-women
#2
Sai-Ying Wang, Kai-Ming Duan, Xiao-Fang Tan, Ji-Ye Yin, Xiao-Yuan Mao, Wei Zheng, Chun-Yan Wang, Mi Yang, Cheng Peng, Hong-Hao Zhou, Zhao-Qian Liu
BACKGROUND: New conceptualizations of depression have emphasized the role of the kynurenine pathway (KP) in the pathogenesis of postpartum depressive symptoms (PDS). Kynurenine 3-monooxygenase (KMO) is a rate-limiting enzyme of the KP, where it catalyzes the conversion of kynurenine (KYN) to 3-hydroxykynurenine (3-HK). Previous work indicates that KMO is closely linked to the pathophysiology of depressive disorders. The purpose of this study is to investigate whether variations in the KMO gene affect PDS development after cesarean section...
March 10, 2017: Journal of Affective Disorders
https://www.readbyqxmd.com/read/28319330/flap-endonuclease-1-rs174538-g-a-polymorphisms-are-associated-with-the-risk-of-esophageal-cancer-in-a-chinese-population
#3
Yonghua Sang, Lin Bo, Haiyong Gu, Wengtao Yang, Yongbing Chen
BACKGROUND: Esophageal cancer has a high mortality rate, particularly in Asia, and there are obvious racial differences in regard to incidence. The purpose of our study was to assess the genetic susceptibility of functional single nucleotide polymorphisms in flap endonuclease-1 (FEN1) in esophageal squamous cell carcinoma ESCC. METHODS: Clinical blood samples of 629 ESCC cases and 686 control samples were collected. The ligation detection reaction method was used to determine FEN 1 rs174538 G>A genotypes...
March 20, 2017: Thoracic Cancer
https://www.readbyqxmd.com/read/28318592/caprine-and-ovine-greek-dairy-products-the-official-german-method-generates-false-positive-results-due-to-%C3%AE%C2%BA-casein-gene-polymorphism
#4
V Tsartsianidou, D Triantafillidou, N Karaiskou, P Tarantili, G Triantafillidis, E Georgakis, A Triantafyllidis
Caseins are widely used for species identification of dairy products. Isoelectric focusing (IEF) of para-κ-casein peptide is used as the official German method for the differentiation between caprine (isoform A) and ovine (isoform B) dairy products, based on their different isoelectric points. The discrimination between Greek goat and ewe dairy products using IEF has, however, been shown to be problematic because of the existence of the ewe isoform in milk from Greek indigenous dairy goats. This could be due to nucleotide polymorphisms within the goat κ-casein gene of Greek indigenous breeds, which alter the isoelectric point of the para-κ-casein peptide and lead to false positive results...
March 16, 2017: Journal of Dairy Science
https://www.readbyqxmd.com/read/28317869/genetic-association-between-the-cyclin-dependent-kinase-inhibitor-gene-p27-kip1-polymorphism-rs34330-and-cancer-susceptibility-a-meta-analysis
#5
Xiao-Ke Cheng, Xue-Jun Wang, Xiao-Dong Li, Xue-Qun Ren
The p27 rs34330 (-79C/T) polymorphism has been widely studied for human cancer susceptibility. The current findings, however, still remained controversial. Therefore, we performed the meta-analysis to provide a more accurate result. Eligible studies were identified from PubMed database up to June 2015. The association of p27 rs34330 polymorphism and cancer susceptibility was estimated with odds ratios and corresponding 95% confidence intervals. The meta-analysis was performed with Stata 12. A total of ten studies with 11,214 cases and more than 8,776 controls were included in the meta-analysis (including breast, lung, thyroid, endometrial, and hepatocellular cancer)...
March 20, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28317214/characterization-of-blood-flow-through-intrapulmonary-arteriovenous-anastomoses-and-patent-foramen-ovale-at-rest-and-during-exercise-in-stroke-and-transient-ischemic-attack-patients
#6
Rinaldo Romac, Otto Barak, Duska Glavas, Zora Susilovic Grabovac, Petar Lozo, Igor Roje, Kresimir Caljkusic, Irena Drmic-Hofman, James T Davis, Zeljko Dujic, Andrew T Lovering
OBJECTIVES: We determined whether stroke and/or TIA subjects have exercise-induced blood flow through intrapulmonary arteriovenous anastomoses (QIPAVA ) and/or patent foramen ovale (QPFO ) and a genetic predisposition for ischemic stroke. METHODS: Twenty-eight stroke and/or TIA subjects (33-63 years old) underwent transthoracic saline contrast echocardiography concomitant with transcranial Doppler to detect QIPAVA and QPFO at rest and during supine exercise with and without breathing 100% O2 ...
March 19, 2017: Echocardiography
https://www.readbyqxmd.com/read/28317148/bortezomib-induced-peripheral-neuropathy-a-genome-wide-association-study-on-multiple-myeloma-patients
#7
Chiara Campo, Miguel Inacio da Silva Filho, Niels Weinhold, Seyed Hamidreza Mahmoudpour, Hartmut Goldschmidt, Kari Hemminki, Maximilian Merz, Asta Försti
The proteasome-inhibitor bortezomib was introduced into the treatment of multiple myeloma more than a decade ago. It is clinically beneficial, but peripheral neuropathy (PNP) is a side effect that may limit its use in some patients. To examine the possible genetic predisposing factors to PNP, we performed a genome-wide association study on 646 bortezomib-treated German multiple myeloma patients. Our aim was to identify genetic risk variants associated with the development of PNP as a serious side effect of the treatment...
March 20, 2017: Hematological Oncology
https://www.readbyqxmd.com/read/28317034/european-mitochondrial-dna-haplogroups-are-associated-with-cerebrospinal-fluid-biomarkers-of-inflammation-in-hiv-infection
#8
David C Samuels, Asha R Kallianpur, Ronald J Ellis, William S Bush, Scott Letendre, Donald Franklin, Igor Grant, Todd Hulgan
BACKGROUND: Mitochondrial DNA (mtDNA) haplogroups are ancestry-related patterns of single-nucleotide polymorphisms that are associated with differential mitochondrial function in model systems, neurodegenerative diseases in HIV-negative populations, and chronic complications of HIV infection, including neurocognitive impairment. We hypothesized that mtDNA haplogroups are associated with neuroinflammation in HIV-infected adults. METHODS: CNS HIV Antiretroviral Therapy Effects Research (CHARTER) is a US-based observational study of HIV-infected adults who underwent standardized neurocognitive assessments...
October 2016: Pathogens & Immunity
https://www.readbyqxmd.com/read/28316956/sudden-infant-death-syndrome-due-to-long-qt-syndrome-a-brief-review-of-the-genetic-substrate-and-prevalence
#9
REVIEW
Nikolaos S Ioakeimidis, Theodora Papamitsou, Soultana Meditskou, Zafiroula Iakovidou-Kritsi
The pathophysiological mechanisms which lead to sudden infant death syndrome (SIDS) are not completely understood. Cardiac channelopathies are a well-established causative factor with long QT syndrome (LQTS) being the most frequent one, accounting for approximately 12% of SIDS cases. The genetic substrate of the above arrhythmogenic syndrome has been thoroughly described but only specific gene mutations or polymorphisms have been identified as SIDS causative. The review will focus on the prevalence of LQTS-induced SIDS or near-SIDS cases and the mutations held responsible...
December 2017: Journal of Biological Research
https://www.readbyqxmd.com/read/28316138/irx3-is-a-genetic-modifier-for-birth-weight-adolescent-obesity-and-transaminase-metabolism
#10
C Liu, C Chu, J Zhang, D Wu, D Xu, P Li, Y Chen, B Liu, L Pei, L Zhang, S Liu, T Qi, X-Y Lou, L Li
OBJECTIVE: IRX3 expression has been functionally associated in obesity-associated long-distance susceptibility loci, but the effect of the IRX3 genetic variants on human obesity and obesity-related metabolism remains uncertain. METHODS: To determine the genetic role of IRX3, we conducted a molecular epidemiological analysis using three haplotype tagging single nucleotide polymorphisms (SNPs; rs8053360, rs3751723 and rs12445085) and one nonsynonymous SNP (rs1126960) at the IRX3 locus in 333 junior and senior high school students from a northeast Chinese population...
March 19, 2017: Pediatric Obesity
https://www.readbyqxmd.com/read/28316106/chironomus-riparius-diptera-genome-sequencing-reveals-the-impact-of-minisatellite-transposable-elements-on-population-divergence
#11
Ann-Marie Oppold, Hanno Schmidt, Marcel Rose, Sören Lukas Hellmann, Florian Dolze, Fabian Ripp, Bettina Weich, Urs Schmidt-Ott, Erwin Schmidt, Robert Kofler, Thomas Hankeln, Markus Pfenninger
Active transposable elements (TEs) may result in divergent genomic insertion and abundance patterns among conspecific populations. Upon secondary contact, such divergent genetic backgrounds can theoretically give rise to classical Dobzhansky-Muller incompatibilities (DMI), thus contributing to the evolution of endogenous genetic barriers and eventually cause population divergence. We investigated differential TE abundance among conspecific populations of the non-biting midge Chironomus riparius and evaluated their potential role in causing endogenous genetic incompatibilities between these populations...
March 18, 2017: Molecular Ecology
https://www.readbyqxmd.com/read/28316093/morphology-heterogeneity-within-a-campylobacter-jejuni-helical-population-the-use-of-calcofluor-white-to-generate-rod-shaped-c-jejuni-81-176-clones-and-the-genetic-determinants-responsible-for-differences-in-morphology-within-11168-strains
#12
Emilisa Frirdich, Jacob Biboy, Steven Huynh, Craig T Parker, Waldemar Vollmer, Erin C Gaynor
Campylobacter jejuni helical shape is important for colonization and host interactions with straight mutants having altered biological properties. Passage on calcofluor white (CFW) resulted in C. jejuni 81-176 isolates with morphology changes: either a straight morphology from frameshift mutations and single nucleotide polymorphisms in peptidoglycan hydrolase genes pgp1 or pgp2 or a reduction in curvature due a frameshift mutation in cjj81176_1105, a putative peptidoglycan endopeptidase. Shape defects were restored by complementation...
March 18, 2017: Molecular Microbiology
https://www.readbyqxmd.com/read/28316019/population-pharmacokinetic-analysis-of-rebamipide-in-healthy-korean-subjects-with-the-characterization-of-atypical-complex-absorption-kinetics
#13
Lien Ngo, Hee-Doo Yoo, Phuong Tran, Hea-Young Cho, Yong-Bok Lee
In this study, the population pharmacokinetic (PK) analysis of rebamipide (Reba) in healthy male Korean subjects was analyzed using the nonlinear mixed effects modeling method. The possible effects of physiological covariates and the multidrug resistance (MDR1) gene 3435C>T polymorphism on PK parameters were also investigated. Data were collected from a bioequivalence study, in which 26 subjects who participated in the study were administered a single oral dose of 100 mg Reba; only data from the reference formulation were used...
March 18, 2017: Journal of Pharmacokinetics and Pharmacodynamics
https://www.readbyqxmd.com/read/28316001/associations-of-polymorphisms-in-the-candidate-genes-for-alzheimer-s-disease-bin1-clu-cr1-and-picalm-with-gestational-diabetes-and-impaired-glucose-tolerance
#14
Gabriela Vacínová, D Vejražková, P Lukášová, O Lischková, K Dvořáková, R Rusina, I Holmerová, H Vaňková, J Včelák, B Bendlová, M Vaňková
Alzheimer's disease (AD) is the most common type of dementia, with a prevalence that is rising every year. AD is associated with type 2 diabetes mellitus (T2DM) and insulin resistance, and is therefore sometimes called "type 3 diabetes mellitus". The aim of this study was to examine whether the variants of some candidate genes involved in the development of AD, namely BIN1 (rs744373), CLU (rs11136000), CR1 (rs3818361), and PICALM (rs3851179), are related to several disorders of glucose metabolism-gestational diabetes (GDM), T2DM and impaired glucose tolerance (IGT)...
March 18, 2017: Molecular Biology Reports
https://www.readbyqxmd.com/read/28315876/angiotensin-converting-enzyme-ins-del-polymorphism-and-body-composition-the-intermediary-role-of-hydration-status
#15
Laura Bordoni, Valerio Napolioni, Francesca Marchegiani, Emilio Amadio, Rosita Gabbianelli
BACKGROUND: The well-known insertion/deletion polymorphism (rs4646994) of the angiotensin-converting enzyme (ACE) gene has been previously associated with obesity, blood flow, muscular strength, and ACE enzyme activity. Despite the relevant role of ACE in homeostasis, few data are currently available on the relationship between rs4646994 and hydration status. Thus, we tested the association between the ACE Ins/Del polymorphism, body composition, and hydration status in a young Italian population...
March 18, 2017: Journal of Nutrigenetics and Nutrigenomics
https://www.readbyqxmd.com/read/28315507/polymorphisms-and-mutations-in-gstp1-rad51-xrcc1-and-xrcc3-genes-in-breast-cancer-patients
#16
Mazhar Salim Al Zoubi, Katia Zavaglia, Chiara Mazanti, Mohammad Al Hamad, Khalid Al Batayneh, Alaa A A Aljabali, Generoso Bevilacqua
BACKGROUND: Genotoxic factors, including ionizing radiation and oxidative stress, are associated with genomic instability and development of breast cancer (BC). The homologous recombination DNA repair (HRR) pathway, base excision repair (BER) mechanism, and antioxidative enzymes are required as defense mechanisms against these DNA damaging agents. GSTP1, XRCC1, XRCC3 and RAD51 proteins are essential components of antioxidation, BER and HRR of DNA, respectively. Deficiencies in BER, HRR and antioxidation pathways are involved in the progression of cancer...
March 6, 2017: International Journal of Biological Markers
https://www.readbyqxmd.com/read/28315227/insulin-like-growth-factor-1-gene-polymorphism-in-women-with-breast-cancer
#17
Danylo Rafhael Costa-Silva, Maria da Conceição Barros-Oliveira, Rafael Soares Borges, Larysse Maira Campos-Verdes, João Paulo da Silva-Sampaio, Carla Solange Escorcio-Dourado, Luana Mota Martins, Airlane Pereira Alencar, Edmund Chada Baracat, Vladimir Costa Silva, Benedito Borges da Silva
Breast cancer is a disease of unknown etiology; however, the major risk factors are genetic alterations. Studies have demonstrated an association between insulin-like growth factor 1 (IGF-1) gene polymorphism and cell proliferation and reduced apoptosis, in addition to its role in breast cancer growth and aggressiveness. Two polymorphic variants of the IGF-1 gene are highlighted in association with breast cancer, rs6220 and rs7136446, although controversy exists as to this relationship. The current study included 137 women (68 breast cancer cases and 69 controls without breast cancer) who had 3 ml of peripheral blood drawn for the study of genomic DNA extracted from leukocytes using the genotyping technique by real-time polymerase chain reaction...
April 2017: Medical Oncology
https://www.readbyqxmd.com/read/28314999/genetic-diversity-and-metabolic-profile-of-salvia-officinalis-populations-implications-for-advanced-breeding-strategies
#18
Eirini Sarrou, Ioannis Ganopoulos, Aliki Xanthopoulou, Domenico Masuero, Stefan Martens, Panagiotis Madesis, Athanasios Mavromatis, Paschalina Chatzopoulou
As a result of this work, we were able to characterize seven indigenous to Greece Salvia officinalis populations using genetic and metabolomic tools. These tools can be used to select the most promising genotypes, capable to design future breeding programs for high valuable varieties. An initial investigation was carried out to compare the genetic and metabolic diversity in S. officinalis grown in Greece and to discern the relationship between the two sets of data. Analysis of inter-simple sequence repeats (ISSR) revealed significant genetic differences among seven sage populations, which were grouped into three main clusters according to an UPGMA ISSR data-based dendrogram and Principle Coordinate Analysis...
March 17, 2017: Planta
https://www.readbyqxmd.com/read/28314991/xpg-genetic-polymorphisms-and-clinical-outcome-of-patients-with-advanced-non-small-cell-lung-cancer-under-platinum-based-treatment-a-meta-analysis-of-12-studies
#19
Tianxin Xiang, Xiuhua Kang, Zhenghua Gong, Wei Bai, Chuanhui Chen, Wei Zhang
PURPOSE: A number of studies on the relationship between xeroderma pigmentosum group G (XPG) polymorphisms and clinical outcomes in non-small cell cancer (NSCLC) have led to inconclusive results. This meta-analysis evaluates the predictive value of XPG polymorphisms on the treatment response rate and overall survival of patients with NSCLC. METHODS: To measure the correlative strength of the relationship between XPG polymorphisms and outcomes of patients with NSCLC, we searched electronic databases, including PubMed and China National Knowledge Infrastructure, to retrieve studies up to August 2016...
March 17, 2017: Cancer Chemotherapy and Pharmacology
https://www.readbyqxmd.com/read/28314879/a-study-on-associations-of-single-nucleotide-polymorphisms-within-h19-and-hox-transcript-antisense-rna-hotair-with-genetic-susceptibility-to-rheumatoid-arthritis-in-a-chinese-population
#20
Jian-Zhe Zhou, Jing-Jing Li, Dong-Jin Hua, Si-Chao Huang, Qing-Qing Sun, Hua Huang, Xia-Fei Xin, Han Cen
OBJECTIVE: The purpose of our study was to examine whether the H19 rs2839698, rs217727, and HOX transcript antisense RNA (HOTAIR) rs12826786 polymorphisms were associated with genetic susceptibility to rheumatoid arthritis (RA) in a Chinese population. METHODS: A total of 777 participants were enrolled in this study, including 328 RA patients and 449 healthy controls. The H19 rs2839698, rs217727, and HOTAIR rs12826786 polymorphisms were detected by the ligase detection reaction-polymerase chain reaction (LDR-PCR) technology...
March 17, 2017: Inflammation Research: Official Journal of the European Histamine Research Society ... [et Al.]
keyword
keyword
94636
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"