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https://www.readbyqxmd.com/read/28103531/characterization-of-transcriptome-and-identification-of-biomineralization-genes-in-winged-pearl-oyster-pteria-penguin-mantle-tissue
#1
Haimei Li, Baosuo Liu, Guiju Huang, Sigang Fan, Bo Zhang, Jiaqi Su, Dahui Yu
The winged pearl oyster Pteria penguin is a commercially important marine pearl oyster species, with pearls that are quite different from those of other pearl oysters. Among such species, mantle tissue is the main organ responsible for shell and pearl formation, a biomineralization process that is regulated by a series of genes, most of which remain unknown. In this study, we sequenced and characterized the transcriptome of P. penguin mantle tissue using the HiSeq 2000 sequencing platform. A total of 93,204 unique transcripts were assembled from 51,580,076 quality reads, with a mean length of 608bp, and 40,974 unigenes were annotated...
January 8, 2017: Comparative Biochemistry and Physiology. Part D, Genomics & Proteomics
https://www.readbyqxmd.com/read/28103374/arg399gln-polymorphism-of-the-xrcc1-gene-is-associated-with-coronary-artery-disease-in-a-turkish-population
#2
N Özbilüm, S Arslan, M Yanartaş, Z Yılmaz, Ö Berkan
Objective: Coroner artery disease, the leading cause of morbidity and mortality worldwide, is an inflammatory disease. XRCC1 gene is playing the role of scaffolding protein for the base excision repair (BER) and single strand break (SSB) repair. Methods: The study population consisted of 402 participants living in the same region, classified into case group (n=201) and control group (n=201). Phenol-chloroform method was used to extract DNA from blood samples of the study participants...
March 17, 2016: West Indian Medical Journal
https://www.readbyqxmd.com/read/28103273/association-between-genetic-polymorphisms-in-interleukin-genes-and-recurrent-pregnancy-loss-a-systematic-review-and-meta-analysis
#3
Meixiang Zhang, Jiawei Xu, Xiao Bao, Wenbin Niu, Linlin Wang, Linqing Du, Nan Zhang, Yingpu Sun
Interleukins are a group of immunomodulatory proteins that mediate a variety of immune reactions in the human body. To investigate the association between interleukin gene polymorphisms and recurrent pregnancy loss (RPL), we reviewed 21 studies from MEDLINE, EMBASE, OVID SP and PubMed to evaluate RPL-related interleukin gene polymorphisms. Meta-analysis was performed on 12 of the polymorphisms, and a review included the others. Our integrated results indicated that IL-1β (-511C/T) (P = 0.02, 95% CI 0.77[0...
2017: PloS One
https://www.readbyqxmd.com/read/28103253/polymorphisms-in-htr2a-and-drd4-predispose-to-smoking-and-smoking-quantity
#4
Gloria Pérez-Rubio, Alejandra Ramírez-Venegas, Valeri Noé Díaz, Leonor García Gómez, Karina Elvira Fabián, Salvador García Carmona, Luis A López-Flores, Enrique Ambrocio-Ortiz, Rocío Contreras Romero, Noé Alcantar-Ayala, Raúl H Sansores, Ramcés Falfán-Valencia
BACKGROUND: Genes encoding the receptors involved in the dopaminergic and serotonergic pathways are potential candidates in the mechanisms of nicotine addiction. AIMS: To identify genetic variants in the promoter regions and exons of the DRD4 and HTR2A genes associated with tobacco smoking and the degree of nicotine addiction in Mexican mestizos. METHODS: The study included 438 non-smokers (NS) and 1,157 current smokers, ranked based on their consumption of cigarettes per day (cpd): 574 heavy smokers (HS, >20 cpd) and 583 light smokers (LS, 1-10 cpd)...
2017: PloS One
https://www.readbyqxmd.com/read/28103238/weak-genetic-structure-in-northern-african-dromedary-camels-reflects-their-unique-evolutionary-history
#5
Youcef Amine Cherifi, Suheil Bechir Semir Gaouar, Rosangela Guastamacchia, Khalid Ahmed El-Bahrawy, Asmaa Mohammed Aly Abushady, Abdoallah Aboelnasr Sharaf, Derradji Harek, Giovanni Michele Lacalandra, Nadhira Saïdi-Mehtar, Elena Ciani
Knowledge on genetic diversity and structure of camel populations is fundamental for sustainable herd management and breeding program implementation in this species. Here we characterized a total of 331 camels from Northern Africa, representative of six populations and thirteen Algerian and Egyptian geographic regions, using 20 STR markers. The nineteen polymorphic loci displayed an average of 9.79 ± 5.31 alleles, ranging from 2 (CVRL8) to 24 (CVRL1D). Average He was 0.647 ± 0.173. Eleven loci deviated significantly from Hardy-Weinberg proportions (P<0...
2017: PloS One
https://www.readbyqxmd.com/read/28102888/genetic-polymorphisms-in-estrogen-metabolic-pathway-associated-with-risks-of-alzheimer-s-disease-evidence-from-a-southern-chinese-population
#6
Lu Hua Chen, Yan Hui Fan, Patrick Yu Ping Kao, Deborah Tip Yin Ho, Joyce Cheuk Tung Ha, Leung Wing Chu, You-Qiang Song
OBJECTIVES: To investigate whether genetic variations on the estrogen metabolic pathway would be associated with risk of Alzheimer's disease (AD). DESIGN: Cross-sectional study. SETTING: Individuals were recruited at the Memory Clinic, Queen Mary Hospital, Hong Kong. PARTICIPANTS: Chinese individuals with (n = 426) and without (n = 350) AD. MEASUREMENTS: All subjects underwent a standardized cognitive assessment and genotyping of four candidate genes on the estrogen metabolic pathway (estrogen receptor α gene (ESR1), estrogen receptor β gene (ESR2), cytochrome P450 19A1 gene (CYP19A1), cytochrome P450 11A1 gene (CYP11A1))...
January 19, 2017: Journal of the American Geriatrics Society
https://www.readbyqxmd.com/read/28102624/partial-monosomy-of-10p-and-duplication-of-another-chromosome-in-two-patients
#7
Sayaka Ohta, Tsuyoshi Isojima, Yoko Mizuno, Motohiro Kato, Masakazu Mimaki, Masafumi Seki, Yusuke Sato, Seishi Ogawa, Junko Takita, Sachiko Kitanaka, Akira Oka
Partial monosomy of 10p is a rare chromosomal abnormality. Common features are hypoparathyroidism, deafness, renal anomalies, distinctive facies, and mental retardation, with phenotypic variability. We report two patients with chromosomal abnormalities identified on single-nucleotide polymorphism (SNP) array analysis. Although patient 1 had common features of monosomy10p, G-banding indicated a normal karyotype. SNP array and fluorescence in situ hybridization (FISH), however, indicated unbalanced translocation of a 10p terminal deletion of 11...
January 2017: Pediatrics International: Official Journal of the Japan Pediatric Society
https://www.readbyqxmd.com/read/28102561/stressful-life-events-and-catechol-o-methyl-transferase-comt-gene-in-bipolar-disorder
#8
Georgina M Hosang, Helen L Fisher, Sarah Cohen-Woods, Peter McGuffin, Anne E Farmer
BACKGROUND: A small body of research suggests that gene-environment interactions play an important role in the development of bipolar disorder. The aim of the present study is to contribute to this work by exploring the relationship between stressful life events and the catechol-O-methyl-transferase (COMT) Val(158) Met polymorphism in bipolar disorder. METHODS: Four hundred eighty-two bipolar cases and 205 psychiatrically healthy controls completed the List of Threatening Experiences Questionnaire...
January 19, 2017: Depression and Anxiety
https://www.readbyqxmd.com/read/28102520/us-fda-perspective-on-elbasvir-grazoprevir-treatment-for-patients-with-chronic-hepatitis-c-virus-genotype-1-or-4-infection
#9
Sarita D Boyd, LaRee Tracy, Takashi E Komatsu, Patrick R Harrington, Prabha Viswanathan, Jeff Murray, Adam Sherwat
Elbasvir/grazoprevir demonstrated high sustained virologic response rates 12 weeks after the end of treatment (SVR12) across five clinical trials in subjects infected with chronic hepatitis C virus (HCV) genotype 1, including those with advanced chronic kidney disease (CKD), and GT4. Despite favorable results overall, the US Food and Drug Administration (FDA) encountered challenging regulatory issues due to the limitations of clinical trial data in certain subpopulations. In GT1a-infected subjects, baseline NS5A resistance-associated polymorphisms emerged as the strongest baseline characteristic associated with diminished SVR12 rates following 12 weeks of elbasvir/grazoprevir treatment...
January 19, 2017: Clinical Drug Investigation
https://www.readbyqxmd.com/read/28102513/incidence-of-cryptosporidium-andersoni-in-diarrheal-patients-from-southern-assam-india-a-molecular-approach
#10
G Hussain, S Roychoudhury, B Singha, J Paul
The distribution and public health significance of Cryptosporidium species and genotypes in humans and bovine differ across geographical areas. Cryptosporidium species causes a disease known as cryptosporidiosis in humans and animals. To characterize the prevalence of cryptosporidiosis in humans in southern Assam, India, stool samples (n = 1119) of diarrhea patients were collected from different hospitals and from the community during the period January 2014 to July 2016. Fecal smears were examined microscopically for Cryptosporidium species using modified acid fast staining and were screened to ascertain the presence of Cryptosporidium antigen by enzyme-linked immunosorbent assay (ELISA)...
January 19, 2017: European Journal of Clinical Microbiology & Infectious Diseases
https://www.readbyqxmd.com/read/28102489/genetic-variants-and-anterior-cruciate-ligament-rupture-a-systematic-review
#11
REVIEW
Mustafa Kaynak, Frank Nijman, Joyce van Meurs, Max Reijman, Duncan E Meuffels
BACKGROUND: Studies have shown a familial predisposition for anterior cruciate ligament (ACL) rupture and have been followed by genetic-association studies on polymorphisms in candidate genes in recent years. To date, no systematic review with a best-evidence synthesis has evaluated the influence of genetics on this devastating knee injury. OBJECTIVE: Our objective was to evaluate the association between genetic variants and ACL rupture. METHODS: We performed an extensive search in Embase, MEDLINE, Web of Science, Scopus, PubMed Publisher, Cochrane Register of Clinical Trials, and Google scholar up to 24 August 2015...
January 19, 2017: Sports Medicine
https://www.readbyqxmd.com/read/28102463/marked-differences-of-haplotype-tagging-snp-distribution-linkage-and-haplotype-profile-of-apoa5-gene-in-roma-population-samples
#12
Katalin Sumegi, Balazs Duga, Bela I Melegh, Zsolt Banfai, Erzsebet Kovesdi, Anita Maasz, Bela Melegh
Roma people are underprivileged, neglected population worldwide, with severe healthcare problems. They have significantly increased prevalence of cardiovascular morbidity, presumably related to their poor social status, alcohol consumption and smoking habits. Assuming that genetic background also plays a role in their susceptibility for cardiovascular diseases, we hypothesized that APOA5 gene polymorphisms, an important role-player in lipid metabolism and in the development of metabolic syndrome and cardio/cerebrovascular events, may also be involved...
January 19, 2017: Pathology Oncology Research: POR
https://www.readbyqxmd.com/read/28102195/positive-association-between-kcnj5-rs2604204-a-c-polymorphism-and-plasma-aldosterone-levels-but-also-plasma-renin-and-angiotensin-i-and-ii-levels-in-newly-diagnosed-hypertensive-chinese-a-case-control-study
#13
H Wang, C Weng, H Chen
Variants in G protein-coupled inward rectifier K(+) channels 4 (GIRK4 also known as KCNJ5) gene are associated with primary aldosteronism, which is the most common cause of secondary hypertension. The KCNJ5 rs2604204 variant was shown to be common (minor allele frequency=32.5%) in Chinese patients with essential hypertension (EH). The relationship between KCNJ5 variant and plasma aldosterone (ALD) levels in EH patients has not been reported. We collected 229 patients with newly diagnosed EH without any antihypertensive agents...
January 19, 2017: Journal of Human Hypertension
https://www.readbyqxmd.com/read/28101967/host-related-factors-explaining-interindividual-variability-of-carotenoid-bioavailability-and-tissue-concentrations-in-humans
#14
Torsten Bohn, Charles Desmarchelier, Lars O Dragsted, Charlotte S Nielsen, Wilhelm Stahl, Ralph Rühl, Jaap Keijer, Patrick Borel
Carotenoid dietary intake and their endogenous levels have been associated with a decreased risk of several chronic diseases. There are indications that carotenoid bioavailability depends, in addition to the food matrix, on host factors. These include diseases (e.g. colitis), life-style habits (e.g. smoking), gender and age, as well as genetic variations including single nucleotide polymorphisms that govern carotenoid metabolism. These are expected to explain interindividual differences that contribute to carotenoid uptake, distribution, metabolism and excretion, and therefore possibly also their association with disease risk...
January 19, 2017: Molecular Nutrition & Food Research
https://www.readbyqxmd.com/read/28101956/aggregates-finding-structures-in-simulation-results-of-solutions
#15
Carlos E S Bernardes
Molecular Dynamic and Monte-Carlo simulations are widely used to investigate the structure and physical properties of solids and liquids at a molecular level. Tools to extract the most relevant information from the obtained results are, however, in considerable demand. One such tool, the program AGGREGATES, is described in this work. Based on distance criteria, the program searches trajectory files for the presence of molecular clusters and computes several statistical and shape properties for these structures...
January 19, 2017: Journal of Computational Chemistry
https://www.readbyqxmd.com/read/28101933/associations-of-common-variants-in-the-slc16a11-tcf7l2-and-abca1-genes-with-pediatric-onset-type-2-diabetes-and-related-glycemic-traits-in-families-a-case-control-and-case-parent-trio-study
#16
América L Miranda-Lora, Miguel Cruz, Mario Molina-Díaz, Jorge Gutiérrez, Samuel Flores-Huerta, Miguel Klünder-Klünder
BACKGROUND: There is evidence of associations of single-nucleotide polymorphisms (SNPs) with type 2 diabetes (T2D) and related glycemic traits in adults, but there is a little information about such associations in youths. OBJECTIVE: The aim of this study was to evaluate the associations of SNPs in the TCF7L2, SLC16A11, and ABCA1 genes with T2D and related glycemic traits in Mexican children and adolescents. SUBJECTS: A total of 99 families with children with T2D (n = 327) and 83 families with children without the disease (n = 212)...
January 19, 2017: Pediatric Diabetes
https://www.readbyqxmd.com/read/28101856/relationship-of-long-term-prognosis-to-mmp-and-timp-polymorphisms-in-patients-after-st-elevation-myocardial-infarction
#17
Monika Pavkova Goldbergova, Jiri Jarkovsky, Jolana Lipkova, Simona Littnerova, Martin Poloczek, Jindrich Spinar, Lenka Kubkova, Krystyna Kluz, Petr Kala, Jan Manousek, Anna Vasku, Jiri Parenica
The influence of polymorphisms in the large group of MMP and TIMP genes on clinical outcomes in patients after ST elevation myocardial infarction (STEMI) treated with primary PCI was analysed. In total, 550 consecutive Caucasian patients with STEMI were included in the present study, with a median of 32 months. We analysed 19 polymorphisms in the genes coding MMP and TIMP genes. The MMP-1 -519A/G and -422A/T polymorphisms are associated with combined endpoint after myocardial infarction. The hazard ratio for AT variant of MMP-1 -422A/T was 1...
January 18, 2017: Journal of Applied Genetics
https://www.readbyqxmd.com/read/28101800/is-the-genetic-background-of-co-stimulatory-cd28-ctla-4-pathway-the-risk-factor-for-prostate-cancer
#18
Lidia Karabon, K Tupikowski, A Tomkiewicz, A Partyka, E Pawlak-Adamska, A Wojciechowski, A Kolodziej, J Dembowski, R Zdrojowy, I Frydecka
The impairment of immunological surveillance caused by aberrant T cell activation can lead to an inadequate anti-tumor response. Therefore, deregulation in co-stimulatory pathway might be associated with cancer susceptibility. Here we undertook a prospective study to investigate whether genetic variations in gene encoding molecule CD28 and CTLA-4 playing pivotal role in regulating adoptive immune response can influence susceptibility to prostate cancer. Single nucleotide polymorphisms (SNPs) in CTLA-4 and CD28 genes were genotyped in 301 prostate cancer (PCa) patients and 301 controls...
January 18, 2017: Pathology Oncology Research: POR
https://www.readbyqxmd.com/read/28101761/the-sg13s114-polymorphism-of-the-alox5ap-gene-is-associated-with-ischemic-stroke-in-europeans-a-meta-analysis-of-8062-subjects
#19
Zhongjun Chen, Jinyu Zheng, Wenguang Liu, Kun Yang, Kai Li, Baosheng Huang, Ronglan Zhu, Xiaocheng Lu, Lixin Li
The association between ALOX5AP SG13S114 polymorphism and ischemic stroke (IS) susceptibility has extensively been investigated, especially in white populations; however, the results were inconclusive. Here, we perform a meta-analysis to clarify the effect of SG13S114 variant on the IS risk in Europeans. The Web of Science, PubMed, EMBASE, and Medline were searched up to August 1st, 2016. Data were extracted and the odd ratios (ORs) and 95% confidence intervals (CIs) were calculated by a fixed-effects or random-effects model...
January 18, 2017: Neurological Sciences
https://www.readbyqxmd.com/read/28101694/relationship-between-phenotypic-and-genotypic-characteristics-of-trichophyton-mentagrophytes-strains-isolated-from-patients-with-dermatophytosis
#20
I Dhib, I Khammari, A Yaacoub, F Hadj Slama, M Ben Saïd, R Zemni, A Fathallah
According to epidemiological, clinical and mycological criteria, it has long been admitted that the Trichophyton mentagrophytes species includes two varieties: a zoophilic variety (var. mentagrophytes) and an anthropophilic variety (var. interdigitale) that involve the upper and the lower part of the body, respectively. The further application of molecular techniques to the characterization of dermatophyte strains showed that this classification is unreliable. The aim of our study was to assess the usefulness of PCR-RFLP (restriction fragment length polymorphism) and sequencing in the characterization of T...
January 18, 2017: Mycopathologia
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