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https://www.readbyqxmd.com/read/29783161/candidate-gene-analysis-in-the-s%C3%A3-o-paulo-epidemiologic-sleep-study-episono-shows-an-association-of-variant-in-pde4d-and-sleepiness
#1
Victoria M Pak, Diego R Mazzotti, Brendan T Keenan, Camila Hirotsu, Philip Gehrman, Lia Bittencourt, Allan I Pack, Sergio Tufik
INTRODUCTION: Sleepiness and cardiovascular disease share common molecular pathways; thus, genetic risk factors for sleepiness may also predict cardiovascular disease risk. This study explored the associations between subjective sleepiness and single-nucleotide polymorphisms (SNPs) in candidate genes within oxidative stress, inflammatory, and neuronal pathways, which may contribute to sleepiness and downstream cardiovascular disease risk: Cytochrome B-245, Alpha Polypeptide (CYBA), Cytochrome B-245, Beta Polypeptide (CYBB), Neutrophil Cytosolic Factor (NCF2), Tumor Necrosis Factor-Alpha (TNFA), and Phosphodiesterase 4D (PDE4D)...
January 12, 2018: Sleep Medicine
https://www.readbyqxmd.com/read/29782370/a-common-polymorphism-in-the-scn5a-gene-is-associated-with-dilated-cardiomyopathy
#2
Cristina Mazzaccara, Giuseppe Limongelli, Mario Petretta, Rossella Vastarella, Giuseppe Pacileo, Domenico Bonaduce, Francesco Salvatore, Giulia Frisso
AIMS: SCN5A is a disease-causing gene associated with familial dilated cardiomyopathy (FDC). We examined the possible association between a common polymorphism in the SCN5A gene (c.1673A>G-p.H558R; rs1805124) and the risk of dilated cardiomyopathy (DCM) occurrence. METHODS: We genotyped 185 DCM cases (familial DCM, idiopathic DCM and postischemic DCM) and 251 controls for the p.H558R polymorphism in the SCN5A gene, to test the association of the molecular epidemiology of the individuals with the presence/absence of various types of DCM...
May 17, 2018: Journal of Cardiovascular Medicine
https://www.readbyqxmd.com/read/29782260/-polymorphisms-of-the-scn10a-gene-in-patients-with-sick-sinus-syndrome
#3
S Y Niculina, O V Marilovceva, A A Chernova, S S Tret'jakova, D A Nikulin, V N Maksimov
PURPOSE: To study association of rs6795970 polymorphism of SCN10A gene with development of idiopathic sick sinus syndrome (ISSS). MATERIALS AND METHODS: We examined 109 patients with ISSS, 59 their healthy 1‑st-, 2‑nd-, and 3‑rd-degree relatives, and 630 controls. Patients with ISSS were divided into subgroups according to gender and clinical variant of the disease. All patients underwent cardiologic examination and molecular genetic testing of DNA. RESULTS: We revealed significant preponderance of homozygous genotype with rare allele of the studied gene among patients with ISSS compared with control group...
April 2018: Kardiologiia
https://www.readbyqxmd.com/read/29782255/-high-on-treatment-platelet-reactivity-determinants-on-dual-antiplatelet-therapy-in-patients-with-ischemic-heart-disease-before-elective-percutaneous-coronary-intervention
#4
E Z Golukhova, M V Grigoryan, M N Ryabinina, N I Bulaeva
OBJECTIVE: to determine impact of different laboratory and genetic factors on high on-treatment platelet reactivity (HOPR) during dual antiplatelet therapy (DAPT). METHODS: We included in this study 94 patients with stable ischemic heart disease (mean age 59±9.67 years). All patients underwent elective PCI with implantation of drug eluting stents at the background of dual antiplatelet therapy (DAPT) with aspirin and clopidogrel. Platelet reactivity was assessed using light transmission aggregometry with 5 μmol/L ADP (LTA 5ADP) and VerifyNow assay before PCI...
April 2018: Kardiologiia
https://www.readbyqxmd.com/read/29782204/paraoxonase-1-q192r-genotype-and-activity-affect-homocysteine-thiolactone-levels-in-humans
#5
Joanna Perła-Kaján, Kamila Borowczyk, Rafał Głowacki, Ottar Nygård, Hieronim Jakubowski
Genetic or nutritional deficiencies in 1 carbon and homocysteine (Hcy) metabolism elevate Hcy-thiolactone levels and are associated with cardiovascular and neurologic diseases. Hcy-thiolactone causes protein damage, cellular toxicity, and proatherogenic changes in gene expression in human cells and tissues. A polymorphic cardio-protective enzyme, paraoxonase 1 (PON1), hydrolyzes Hcy-thiolactone in vitro. However, whether Hcy-thiolactone hydrolysis is a physiologic function of the PON1 protein and whether polymorphisms in the PON1 gene affect Hcy-thiolactone levels in humans was unknown...
May 21, 2018: FASEB Journal: Official Publication of the Federation of American Societies for Experimental Biology
https://www.readbyqxmd.com/read/29782189/toxoplasma-gondii-and-neospora-caninum-in-tolai-hares-lepus-tolai-intended-for-human-consumption-in-china-seroprevalence-dna-detection-and-genotyping
#6
Wei Cong, Chun-Xue Zhou, Long Chen, Yang Zou, Wei-Li Wang, Qing-Feng Meng, Ai-Dong Qian
Currently, there is no information available on the detection of Toxoplasma gondii and Neospora caninum in the tissues of Tolai hares in China. This study aimed to investigate the prevalence of these protozoan parasites in Tolai hares obtained from Shandong province, eastern China, between January 2016 and June 2017. Serum and brain tissue samples of 358 Tolai hares were obtained and detected for the presence of antibody and parasite DNAs by serodiagnosis and polymerase chain reaction (PCR), respectively. The seroprevalence of T...
May 21, 2018: Foodborne Pathogens and Disease
https://www.readbyqxmd.com/read/29781841/carbohydrates-and-diet-patterns-in-nonalcoholic-fatty-liver-disease-in-children-and-adolescents
#7
Ahlia Sekkarie, Jean A Welsh, Miriam B Vos
PURPOSE OF REVIEW: The primary treatment for nonalcoholic fatty liver disease (NAFLD) in children is lifestyle change, including a healthier diet. However, there are no agreed upon expert recommendations for a specific diet in the prevention or treatment of NAFLD. In this study, we review studies published between 2015 and 2017 contributing to further understanding of the role of diet in the development and progression of NAFLD, particularly those addressing sugars and dietary patterns...
May 16, 2018: Current Opinion in Clinical Nutrition and Metabolic Care
https://www.readbyqxmd.com/read/29781737/genetic-association-study-between-the-col11a1-and-col18a1-genes-and-high-myopia-in-a-han-chinese-population
#8
Haiyan Wu, Lingxi Jiang, Rui Zheng, Dongyan Luo, Xiaoqi Liu, Fang Hao, Zhilin Jiang, Bo Gong, Zhenglin Yang, Yi Shi
PURPOSE: To evaluate the association between high myopia (HM) and single nucleotide polymorphisms (SNPs) in collagen, type XI, alpha 1 (COL11A1) and collagen, type XVIII, alpha 1 (COL18A1) genes in a Han Chinese population. MATERIALS AND METHODS: A total of 869 patients with HM and 804 controls were recruited for this study. The genotyping of five SNPs in COL11A1 and COL18A1 was performed using the SNaPshot method. The genotyping data were analyzed using the χ2 test, and the linkage disequilibrium block structure was calculated and examined by Haploview software...
May 21, 2018: Genetic Testing and Molecular Biomarkers
https://www.readbyqxmd.com/read/29781520/associations-of-candidate-gene-polymorphisms-with-poor-responsiveness-to-aspirin-a-meta-analysis
#9
Juesheng Yang, Xianglai Chen, Jianliang Zhou, Shan Hu, Yanhua Tang
Recently, the roles of gene polymorphisms in poor responsiveness to aspirin were extensively investigated, with conflicting results. Therefore, we performed this meta-analysis to better assess the relationship between candidate genetic variants and poor responsiveness to aspirin. Eligible articles were searched in PubMed, Medline, Embase and CNKI. Odds ratios (ORs) with 95% confidence intervals (CIs) were used to detect possible associations of gene polymorphisms with poor responsiveness to aspirin. Among 53 eligible articles, a total of 22 candidate gene polymorphisms were analyzed...
May 21, 2018: Clinical and Experimental Pharmacology & Physiology
https://www.readbyqxmd.com/read/29781316/fas-and-fasl-genetic-polymorphisms-in-women-with-recurrent-pregnancy-loss-a-case-control-study
#10
Ae Ra Han, Young Min Choi, Min A Hong, Jin Ju Kim, Sung Ki Lee, Kwang Moon Yang, Eun Chan Paik, Hyeon Jeong Jeong, Jong Kwan Jun
Aberrant apoptosis at the trophoblast-maternal interface and abnormal expression of Fas and Fas ligand (FasL) have been reported in complicated pregnancies with recurrent pregnancy losses (RPL) and preeclampsia. We assessed the prevalence of Fas and FasL genetic polymorphisms in Korean women with RPL and in fertile controls. In total, 306 women with RPL and 298 fertile controls were enrolled. Genotype distributions of Fas and FasL in RPL patients versus fertile controls were examined under the Hardy-Weinberg equilibrium...
May 20, 2018: Human Fertility: Journal of the British Fertility Society
https://www.readbyqxmd.com/read/29780395/genetic-analysis-of-fusarium-head-blight-resistance-in-cimmyt-bread-wheat-line-c615-using-traditional-and-conditional-qtl-mapping
#11
Xin Yi, Jingye Cheng, Zhengning Jiang, Wenjing Hu, Tongde Bie, Derong Gao, Dongsheng Li, Ronglin Wu, Yuling Li, Shulin Chen, Xiaoming Cheng, Jian Liu, Yong Zhang, Shunhe Cheng
Fusarium head blight (FHB) is a destructive wheat disease present throughout the world, and host resistance is an effective and economical strategy used to control FHB. Lack of adequate resistance resource is still a main bottleneck for FHB genetics and wheat breeding research. The synthetic-derived bread wheat line C615, which does not carry the Fhb1 gene, is a promising source of FHB resistance for breeding. A population of 198 recombinant inbred lines (RILs) produced by crossing C615 with the susceptible cultivar Yangmai 13 was evaluated for FHB response using point and spray inoculations...
2018: Frontiers in Plant Science
https://www.readbyqxmd.com/read/29780368/-salmonella-enterica-prophage-sequence-profiles-reflect-genome-diversity-and-can-be-used-for-high-discrimination-subtyping
#12
Walid Mottawea, Marc-Olivier Duceppe, Andrée A Dupras, Valentine Usongo, Julie Jeukens, Luca Freschi, Jean-Guillaume Emond-Rheault, Jeremie Hamel, Irena Kukavica-Ibrulj, Brian Boyle, Alexander Gill, Elton Burnett, Eelco Franz, Gitanjali Arya, Joel T Weadge, Samantha Gruenheid, Martin Wiedmann, Hongsheng Huang, France Daigle, Sylvain Moineau, Sadjia Bekal, Roger C Levesque, Lawrence D Goodridge, Dele Ogunremi
Non-typhoidal Salmonella is a leading cause of foodborne illness worldwide. Prompt and accurate identification of the sources of Salmonella responsible for disease outbreaks is crucial to minimize infections and eliminate ongoing sources of contamination. Current subtyping tools including single nucleotide polymorphism (SNP) typing may be inadequate, in some instances, to provide the required discrimination among epidemiologically unrelated Salmonella strains. Prophage genes represent the majority of the accessory genes in bacteria genomes and have potential to be used as high discrimination markers in Salmonella ...
2018: Frontiers in Microbiology
https://www.readbyqxmd.com/read/29779768/genetic-diversity-of-antigen-38-kda-in-mycobacterium-tuberculosis-strains-from-china
#13
Yingzhen Du, Hongxia Li, Xuebing Qin, Yan Wang, Zhijian Zhang, Geping Qu, Xiangqun Fang, Senyang Yu
We used 335 Mycobacterium tuberculosis strains from 2010 National Epidemiologic Survey for TB in China and performed comparative sequence analysis of 38 kDa gene after amplification. From the results, we found that there were 5.07% M.tuberculosis strains that demonstrated genetic diversity of 38 kDa in China, and 2.99% strains showed polymorphism of the 38 kDa antigen, and this may be the reason for changes in the antigen produced, which may in turn cause alterations of related functions, thereby allowing immune evasion...
May 2018: Tuberculosis
https://www.readbyqxmd.com/read/29779728/association-between-aldehyde-dehydrogenase-2-glu504lys-polymorphism-and-alcoholic-liver-disease
#14
Binxia Chang, Shuli Hao, Longyu Zhang, Miaomiao Gao, Ying Sun, Ang Huang, Guangju Teng, Baosen Li, David W Crabb, Praveen Kusumanchi, Li Wang, Suthat Liangpunsakul, Zhengsheng Zou
BACKGROUND: Only a subset of patients with excessive alcohol use develop alcoholic liver disease (ALD), though the exact mechanism is not completely understood. Once ingested, alcohol is metabolized by 2 key oxidative enzymes, alcohol dehydrogenase (ADH) and aldehyde dehydrogenase (ALDH). There are 2 major ALDH isoforms, cytosolic and mitochondrial, encoded by the aldehyde ALDH1 and ALDH2 genes, respectively. The ALDH2 gene was hypothesized to alter genetic susceptibility to alcohol dependence and alcohol-induced liver diseases...
March 20, 2018: American Journal of the Medical Sciences
https://www.readbyqxmd.com/read/29779152/genetic-analysis-of-39-y-str-loci-in-a-han-population-from-henan-province-central-china
#15
Yanmei Huang, Liwei Guo, Mengge Wang, Cui Zhang, Lixia Kang, Kejie Wang, Yalei Ma, Huiyong Jiao, Xi Li, Hongyu Sun
A total of 39 Y-chromosomal short tandem repeat (Y-STR) loci included in the advanced commercial six-dye multiplex system (AGCU Database Y30 kit) and a custom-designed four-dye multiplex system were investigated in 259 unrelated healthy Chinese males residing in Henan Province, central China. The haplotype diversity (HD) values were 0.99997 and 1.0000 for the six and four fluorescent-multiplex amplification systems, respectively. The discrimination capacity (DC) values were 0.9961 and 1.0000, respectively. When the 39 Y-STR loci were considered, 259 unique haplotypes were obtained in Henan Han individuals with both the haplotype diversity and discrimination capacity being 1...
May 19, 2018: International Journal of Legal Medicine
https://www.readbyqxmd.com/read/29779125/genetic-diversity-and-structure-of-a-rare-endemic-cactus-and-an-assessment-of-its-genetic-relationship-with-a-more-common-congener
#16
Niraj Rayamajhi, Jyotsna Sharma
Endemic, obligate outcrossing plant species with narrow geographic distributions and disjunct populations are prone to loss of genetic diversity. Simultaneously, delineating clear species boundaries is important for targeted conservation efforts. The rare and endemic cactus, Sclerocactus brevihamatus subsp. tobuschii (SBT), has a parapatric relationship with Sclerocactus brevihamatus subsp. brevihamatus (SBB) but genetic distance between the two taxa is unknown. We: (1) developed taxon-specific polymorphic microsatellites, (2) assessed genetic diversity within and among nine populations of SBT, and within one population of SBB, and (3) estimated the genetic relationship between the two subspecies...
May 19, 2018: Genetica
https://www.readbyqxmd.com/read/29779017/-xpg-rs17655-g-c-polymorphism-associated-with-cancer-risk-evidence-from-60-studies
#17
Jie Zhao, Shanshan Chen, Haixia Zhou, Ting Zhang, Yang Liu, Jing He, Jinhong Zhu, Jichen Ruan
Xeroderma pigmentosum group G (XPG), a key component in nucleotide excision repair pathway, functions to cut DNA lesions during DNA repair. Genetic variations that alter DNA repair gene expression or function may decrease DNA repair ability and impair genome integrity, thereby predisposing to cancer. The association between XPG rs17655 G>C polymorphism and cancer risk has been investigated extensively, but the results remain contradictory. To get a more accurate conclusion, we performed a comprehensive meta-analysis of 60 case-control studies, involving 27,098 cancer cases and 30,535 healthy controls...
May 20, 2018: Aging
https://www.readbyqxmd.com/read/29778881/polymerase-chain-reaction-pcr-based-methods-promising-molecular-tools-in-dentistry
#18
REVIEW
Shahriar Shahi, Sepideh Zununi Vahed, Nazanin Fathi, Simin Sharifi
Polymerase chain reaction (PCR) has become a popular diagnosis and research technique in dentistry. Several studies show that its high sensitivity and specificity allow it as a precise, efficient, and rapid method for detection, identification, and quantification of microorganism. Several genetic polymorphisms can be determined along with detection of immune and inflammatory markers, therefore providing the more accurate perception into the mechanisms underlying the dental and periodontal disease. This review paper discusses the application of PCR as a diagnostic technique in periodontology, endodontic infections, implant-related, and peri-implantitis infection, immune and inflammatory markers identification and genetic polymorphism as well as application of next generation sequencing and gene microarray technology in dentistry mentioned...
May 17, 2018: International Journal of Biological Macromolecules
https://www.readbyqxmd.com/read/29778277/interpretation-of-acid-%C3%AE-glucosidase-activity-in-creatine-kinase-elevation-a-case-of-becker-muscular-dystrophy
#19
Yoshiki Oitani, Akihiko Ishiyama, Motomichi Kosuga, Kentaro Iwasawa, Ayako Ogata, Fumiko Tanaka, Eri Takeshita, Yuko Shimizu-Motohashi, Hirofumi Komaki, Ichizo Nishino, Torayuki Okuyama, Masayuki Sasaki
BACKGROUND: Diagnosis of Pompe disease is sometimes challenging because it exhibits clinical similarities to muscular dystrophy. CASE: We describe a case of Becker muscular dystrophy (BMD) with a remarkable reduction in activity of the acid α-glucosidase (GAA) enzyme, caused by a combination of pathogenic mutation and polymorphism variants resulting in pseudodeficiency in GAA. The three-year-old boy demonstrated asymptomatic creatine kinase elevation. Neither exon deletion nor duplication was detected on multiplex ligation-dependent probe amplification (MLPA) of DMD...
May 16, 2018: Brain & Development
https://www.readbyqxmd.com/read/29778183/high-genetic-diversity-of-extended-spectrum-%C3%AE-lactamases-producing-escherichia-coli-in-feces-of-horses
#20
Syndia Sadikalay, Yann Reynaud, Stéphanie Guyomard-Rabenirina, Mélanie Falord, Célia Ducat, Laetitia Fabre, Simon Le Hello, Antoine Talarmin, Séverine Ferdinand
Extended-spectrum beta-lactamases (ESBLs), especially those of the CTX-M type, represent a major public health problem throughout the world. Although the carriage of ESBL-producing Enterobacteriaceae (EPE) in feces of horses is now well recognized, little is known about the diversity of EPE after treatment of horses with antibiotics. We undertook this study to assess and follow the diversity of EP Escherichia coli isolated from horses after antibiotic treatment for an infection. Fecal samples from two horses treated and two that were untreated were tested for the presence of EPE on different days...
June 2018: Veterinary Microbiology
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