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https://www.readbyqxmd.com/read/29037010/effects-of-triflusal-and-clopidogrel-on-the-secondary-prevention-of-stroke-based-on-cytochrome-p450-2c19-genotyping
#1
Sang Won Han, Yong-Jae Kim, Seong Hwan Ahn, Woo-Keun Seo, Sungwook Yu, Seung-Hun Oh, Hyo Suk Nam, Hye-Yeon Choi, Sung Sang Yoon, Seo Hyun Kim, Jong Yun Lee, Jun Hong Lee, Yang-Ha Hwang, Kee Ook Lee, Yo Han Jung, Jun Lee, Sung-Il Sohn, Youn Nam Kim, Kyung-A Lee, Cheryl D Bushnell, Kyung-Yul Lee
BACKGROUND AND PURPOSE: To compare the efficacy and safety of antiplatelet agents for the secondary prevention of ischemic stroke based on cytochrome P450 2C19 (CYP2C19) polymorphisms. METHODS: This study was a prospective, multicenter, randomized, parallel-group, open-label, blind genotype trial. First time non-cardiogenic ischemic stroke patients were enrolled and screened within 30 days. Participants were randomized to receive either triflusal or clopidogrel for secondary stroke prevention...
September 2017: Journal of Stroke
https://www.readbyqxmd.com/read/29036998/-association-between-polymorphism-of-rs10185316-in-insulin-induced-gene-2-and-blood-pressure-among-children-and-adolescents
#2
Y D Yang, J Y Song, F H Liu, X R Shang, H J Wang, J Ma
Objective: To examine the association between polymorphism of rs10185316 in insulin-induced gene 2 (INSIG2) and blood pressure among children and adolescents. Methods: 9 junior middle schools in Dongcheng District of Beijing and 5 schools (3 primary junior middle schools, 2 primary schools) in Haidian District of Beijing were chosen in 2005 and 2007, respectively. According to the Chinese BMI percentile criteria for screening overweight and obesity in school children, we recruited 1 425 overweight or obese children and 605 normal weight children...
October 6, 2017: Zhonghua Yu Fang Yi Xue za Zhi [Chinese Journal of Preventive Medicine]
https://www.readbyqxmd.com/read/29036934/identification-of-genetic-interaction-with-risk-factors-using-a-time-to-event-model
#3
Mariza de Andrade, Sebastian M Armasu, Bryan M McCauley, Tanya M Petterson, John A Heit
BACKGROUND: Certain diseases can occur with and without a trigger. We use Venous Thromboembolism (VTE) as our example to identify genetic interaction with pregnancy in women with VTE during pre- or postpartum. Pregnancy is one of the major risk factors for VTE as it accounts for 10% of maternal deaths. METHODS: We performed a whole genome association analysis using the Cox Proportional Hazard (CoxPH) model adjusted for covariates to identify genetic variants associated with the time-to-event of VTE related to pre- or postpartum during the childbearing age of 18-45 years using a case-only design in a cohort of women with VTE...
October 15, 2017: International Journal of Environmental Research and Public Health
https://www.readbyqxmd.com/read/29036931/mass-spectrometric-studies-of-apolipoprotein-proteoforms-and-their-role-in-lipid-metabolism-and-type-2-diabetes
#4
REVIEW
Dobrin Nedelkov
Apolipoproteins function as structural components of lipoprotein particles, cofactors for enzymes, and ligands for cell-surface receptors. Most of the apoliporoteins exhibit proteoforms, arising from single nucleotide polymorphisms (SNPs) and post-translational modifications such as glycosylation, oxidation, and sequence truncations. Reviewed here are recent studies correlating apolipoproteins proteoforms with the specific clinical measures of lipid metabolism and cardiometabolic risk. Targeted mass spectrometric immunoassays toward apolipoproteins A-I, A-II, and C-III were applied on large cross-sectional and longitudinal clinical cohorts...
October 15, 2017: Proteomes
https://www.readbyqxmd.com/read/29036902/dna-adducts-formed-by-aristolochic-acid-are-unique-biomarkers-of-exposure-and-explain-the-initiation-phase-of-upper-urothelial-cancer
#5
REVIEW
Marie Stiborová, Volker M Arlt, Heinz H Schmeiser
Aristolochic acid (AA) is a plant alkaloid that causes aristolochic acid nephropathy (AAN) and Balkan endemic nephropathy (BEN), unique renal diseases frequently associated with upper urothelial cancer (UUC). This review summarizes the significance of AA-derived DNA adducts in the aetiology of UUC leading to specific A:T to T:A transversion mutations (mutational signature) in AAN/BEN-associated tumours, which are otherwise rare in individuals with UCC not exposed to AA. Therefore, such DNA damage produced by AA-DNA adducts is one rare example of the direct association of exposure and cancer development (UUC) in humans, confirming that the covalent binding of carcinogens to DNA is causally related to tumourigenesis...
October 14, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/29036834/association-between-sorl1-polymorphisms-and-the-risk-of-alzheimer-s-disease
#6
Lele Cong, Xiangyi Kong, Jing Wang, Jianshi Du, Zhongxin Xu, Yanan Xu, Qing Zhao
A meta-analysis was performed to identify empirical data assessing the effects of a single nucleotide polymorphisms of sortilin-related receptor on Alzheimer's disease based on 14 studies involving 37941 cases and 49727 control studies. The results show an increased risk between the single nucleotide polymorphisms (rs641120, rs1010159) and Alzheimer's disease susceptibility in Asian populations, single nucleotide polymorphisms rs689021 was associated with a decreased risk in Caucasians, and single nucleotide polymorphisms rs641120 was detected as a decreased risk in both populations...
October 13, 2017: Journal of Integrative Neuroscience
https://www.readbyqxmd.com/read/29036809/role-of-fshr-rs6165-and-esr2-rs4986938-polymorphisms-in-ovarian-stimulation-of-iranian-women-who-underwent-assisted-reproduction-treatment
#7
Maryam Kaviani, Sayyed Mohammad Hossein Ghaderian, Soheila Arefi, Mehrdad Hashemi, Sarah Sadat Aghabozorg Afjeh
BACKGROUND: Gonadotropin therapy was used to stimulate the ovary in infertile women who underwent assisted reproduction treatment (ART). Numerous studies indicated that infertile women showed different responses to gonadotropin therapy. Follicle stimulating hormone receptor (FSHR) and Oestrogen receptor (ER) polymorphisms have been reported to involve induction of folliculogenesis and ovarian response to treatment. METHODS: In the present study, two polymorphisms, namely FSHR rs6165 and ESR2 rs4986938, were investigated in 198 Iranian infertile women aged less than 39 years who underwent ART...
September 29, 2017: Human Antibodies
https://www.readbyqxmd.com/read/29036458/metabolic-syndrome-induces-over-expression-of-the-human-at1r-a-haplotype-dependent-effect-with-implications-on-cardio-renal-function
#8
Sudhir Jain, Nitin Puri, Anita Rana, Natalie Sirianni, Brahmaraju Mopidevi, Ashok Kumar
Background: The transcriptional regulation of the human AT1R gene in pathophysiologies, like the metabolic syndrome, is poorly understood. The human AT1R gene has polymorphisms in its promoter that can be arranged in two haplotypes. Variants -810T, -713T, -214A, and -153A always occur together (Hap-I) and variants -810A, -713G, -214C, and -153G form Hap-II. We have hypothesized that high fat diet will alter cellular transcriptional milieu and increase hAT1R gene expression in a haplotype-dependent manner...
October 5, 2017: American Journal of Hypertension
https://www.readbyqxmd.com/read/29036274/a-robust-df-reml-framework-for-variance-components-estimation-in-genetic-studies
#9
V M Lourenço, P C Rodrigues, A M Pires, H-P Piepho
Motivation: In genetic association studies, linear mixed models (LMMs) are used to test for associations between phenotypes and candidate single nucleotide polymorphisms (SNPs). These same models are also used to estimate heritability, which is central not only to evolutionary biology but also to the prediction of the response to selection in plant and animal breeding, as well as the prediction of disease risk in humans. However, when one or more of the underlying assumptions are violated, the estimation of variance components may be compromised and therefore so may the estimates of heritability and any other functions of these...
July 14, 2017: Bioinformatics
https://www.readbyqxmd.com/read/29036272/lep-map3-robust-linkage-mapping-even-for-low-coverage-whole-genome-sequencing-data
#10
Pasi Rastas
Motivation: Accurate and dense linkage maps are useful in family-based linkage and association studies, quantitative trait locus mapping, analysis of genome synteny and other genomic data analyses. Moreover, linkage mapping is one of the best ways to detect errors in de novo genome assemblies, as well as to orient and place assembly contigs within chromosomes. A small mapping cross of tens of individuals will detect many errors where distant parts of the genome are erroneously joined together...
August 3, 2017: Bioinformatics
https://www.readbyqxmd.com/read/29036232/rare-and-common-variants-of-apob-and-pcsk9-in-korean-patients-with-extremely-low-low-density-lipoprotein-cholesterol-levels
#11
Chan Joo Lee, Yunbeom Lee, Sungha Park, Seok-Min Kang, Yangsoo Jang, Ji Hyun Lee, Sang-Hak Lee
BACKGROUND: Screening of variants, related to lipid metabolism in patients with extreme cholesterol levels, is a tool used to identify targets affecting cardiovascular outcomes. The aim of this study was to examine the prevalence and characteristics of rare and common variants of APOB and PCSK9 in Korean patients with extremely low low-density lipoprotein-cholesterol (LDL-C) levels. METHODS: Among 13,545 participants enrolled in a cardiovascular genome cohort, 22 subjects, whose LDL-C levels without lipid-lowering agents were ≤1 percentile (48 mg/dL) of Korean population, were analyzed...
2017: PloS One
https://www.readbyqxmd.com/read/29036186/the-mgmt-promoter-single-nucleotide-polymorphism-rs1625649-had-prognostic-impact-on-patients-with-mgmt-methylated-glioblastoma
#12
Chih-Yi Hsu, Hsiang-Ling Ho, Shih-Chieh Lin, Tiffany Dai-Hwa Ho, Donald Ming-Tak Ho
Promoter methylation is the most significant mechanism to regulate O6-methylguanine-DNA-methyltransferase (MGMT) expression. Single-nucleotide polymorphisms (SNPs) in the MGMT promoter region may also play a role. The aim of this study was to evaluate the clinical significance of SNPs in the MGMT promoter region of glioblastoma. Genomic DNAs from 118 glioblastomas were collected for polymerase chain reaction (PCR) amplification. Sanger sequencing was used to sequence the MGMT promoter region to detect SNPs...
2017: PloS One
https://www.readbyqxmd.com/read/29036176/association-and-clinical-utility-of-nat2-in-the-prediction-of-isoniazid-induced-liver-injury-in-singaporean-patients
#13
Sze Ling Chan, Angeline Poh Gek Chua, Folefac Aminkeng, Cynthia Bin Eng Chee, Shengnan Jin, Marie Loh, Suay Hong Gan, Yee Tang Wang, Liam R Brunham
BACKGROUND AND AIMS: Isoniazid (INH) is part of the first-line-therapy for tuberculosis (TB) but can cause drug-induced liver injury (DILI). Several candidate single nucleotide polymorphisms (SNPs) have been previously identified but the clinical utility of these SNPs in the prediction of INH-DILI remains uncertain. The aim of this study was to assess the association between selected candidate SNPs and the risk of INH-DILI and to assess the clinical validity of associated variants in a Singaporean population...
2017: PloS One
https://www.readbyqxmd.com/read/29035811/moving-towards-fast-characterization-of-polymorphic-drugs-by-solid-state-nmr-spectroscopy
#14
Rosalynn Quiñones, Robbie J Iuliucci, Grayce Behnke, Ryanne Brown, Deben Shoup, Taylor M Riedel, Christine Plavchak, Brooke E Lininger, Jonathan M Spehar
Solid-state nuclear magnetic resonance (SS-NMR) spectroscopy has become a common technique to study polymorphism in pharmaceutical solids at high-resolution. However, high-throughput application of high resolution SS-NMR spectroscopy is severely limited by the long (1)H spin-lattice relaxation (T1) that is common to solid phase compounds. Here, we demonstrate the use of paramagnetic relaxation reagents such as chromium (III) acetylacetonate (Cr(acac)3) and nickel (II) acetylacetonate (Ni(acac)2) for fast data acquisition by significantly reducing the T1 value for carbamazepine Forms I, II, III, and dihydrate, cimetidine Forms A and B, nabumetone Form I, and acetaminophen Form I polymorphs...
October 3, 2017: Journal of Pharmaceutical and Biomedical Analysis
https://www.readbyqxmd.com/read/29035734/comparison-of-constitutive-and-thiabendazole-induced-expression-of-five-cytochrome-p450-genes-in-fourth-stage-larvae-of-haemonchus-contortus-isolates-with-different-drug-susceptibility-identifies-one-gene-with-high-constitutive-expression-in-a-multi-resistant
#15
Esra Yilmaz, Sabrina Ramünke, Janina Demeler, Jürgen Krücken
Benzimidazoles (BZs) remain amongst the most widely used anthelmintic drug classes against gastro-intestinal nematode infections, although their efficacy is increasingly compromised by resistance. The primary underlying mechanisms for BZ resistance are single-nucleotide polymorphisms (SNPs) in the isotype 1 β-tubulin gene causing the substitutions F167Y, E198A or F200Y. However, resistance is believed to be multi-genic and previous studies have shown that isolates carrying 90-100% F200Y can vary considerably in their resistance level in the egg hatch assay (EHA)...
October 7, 2017: International Journal for Parasitology, Drugs and Drug Resistance
https://www.readbyqxmd.com/read/29035683/mapping-of-quantitative-trait-loci-associated-with-size-shape-and-parr-mark-traits-using-first-and-second-generation-backcrosses-between-european-and-north-american-atlantic-salmon-i-salmo-salar-i
#16
Stephanie Pedersen, Lei Liu, Brian Glebe, Steven Leadbeater, Sigbjørn Lien, Elizabeth G Boulding
Little is known about the genetic architecture of traits important for salmonid restoration ecology. We mapped quantitative trait loci (QTL) using single nucleotide polymorphisms (SNPs) for juvenile body length, weight, shape, and vertical skin pigmentation patterns (parr marks) within three hybrid backcross families between European and North American subspecies of Atlantic salmon. Amounts of variation in skin colour and pattern quantified in the two second-generation transAtlantic families exceeded the ranges seen in purebred populations...
October 16, 2017: Genome Génome / Conseil National de Recherches Canada
https://www.readbyqxmd.com/read/29035454/the-relationship-between-mdm2-t309g-polymorphism-and-leukemia-in-the-chinese-population-evidence-from-a-meta-analysis
#17
Dewan Zhao, Ting Liu
BACKGROUND: Increasing numbers of studies have been carried out on the association of MDM2 T309G polymorphism with susceptibility to leukemia and have generated conflicting results. This meta-analysis updated and revaluated the possible associations between MDM2 T309G polymorphism and leukemia in the Chinese population. METHODS: The PubMed, Springer Link, Ovid, Chinese Wanfang Data Knowledge Service Platform, Chinese National Knowledge Infrastructure, and Chinese Biology Medicine were searched up to February 2017...
October 1, 2017: Clinical Laboratory
https://www.readbyqxmd.com/read/29035403/-polymorphism-of-genes-encoding-proteins-of-dna-repair-vs-occupational-and-environmental-exposure-to-lead-arsenic-and-pesticides
#18
REVIEW
Karol Bukowski, Katarzyna Woźniak
Genetic polymorphism is associated with the occurrence of at least 2 different alleles in the locus with a frequency higher than 1% in the population. Among polymorphisms we can find single nucleotide polymorphism (SNP) and polymorphism of variable number of tandem repeats. The presence of certain polymorphisms in genes encoding DNA repair enzymes is associated with the speed and efficiency of DNA repair and can protect or expose humans to the effects provoked by xenobiotics. Chemicals, such as lead, arsenic pesticides are considered to exhibit strong toxicity...
October 12, 2017: Medycyna Pracy
https://www.readbyqxmd.com/read/29035322/analysis-of-genetic-diversity-and-structure-pattern-of-indigofera-pseudotinctoria-in-karst-habitats-of-the-wushan-mountains-using-aflp-markers
#19
Yan Fan, Chenglin Zhang, Wendan Wu, Wei He, Li Zhang, Xiao Ma
Indigofera pseudotinctoria Mats is an agronomically and economically important perennial legume shrub with a high forage yield, protein content and strong adaptability, which is subject to natural habitat fragmentation and serious human disturbance. Until now, our knowledge of the genetic relationships and intraspecific genetic diversity for its wild collections is still poor, especially at small spatial scales. Here amplified fragment length polymorphism (AFLP) technology was employed for analysis of genetic diversity, differentiation, and structure of 364 genotypes of I...
October 16, 2017: Molecules: a Journal of Synthetic Chemistry and Natural Product Chemistry
https://www.readbyqxmd.com/read/29035186/left-ventricular-noncompaction-cardiomyopathy-and-recurrent-polymorphic-ventricular-tachycardia-a-case-report-and-literature-review
#20
Oluwaseun A Akinseye, Uzoma N Ibebuogu, Sunil K Jha
INTRODUCTION: Noncompaction cardiomyopathy is a rare phenotype of cardiomyopathy associated with severe cardiac arrhythmia and thromboembolic complications. CASE PRESENTATION: A 55-year-old woman presented with frank pulmonary edema and received a diagnosis of noncompaction cardiomyopathy. DISCUSSION: Left ventricular noncompaction cardiomyopathy is increasingly being diagnosed because of advances in imaging modalities. It is important to differentiate this new phenotype of cardiomyopathy from others because its diagnosis, management, and prognosis differ...
2017: Permanente Journal
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