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https://www.readbyqxmd.com/read/28551829/meta-analysis-of-the-effects-of-genetic-polymorphisms-on-intervertebral-disc-degeneration
#1
J Rigal, A Léglise, T Barnetche, A Cogniet, S Aunoble, J C Le Huec
INTRODUCTION: Chronic low back pain is a significant public health issue. Both its direct and indirect cost represents tens of billions of US dollars. Although chronic low back pain can be the result of many factors, the predominant cause is disc degeneration. Recent studies have shown genetic involvement in up to 74% of cases. This study aimed to evaluate genetic risk factors of disc degeneration by performing a systematic analysis of association studies. The objective is to provide a guide for practice by assessing the clinical relevance of current information...
May 27, 2017: European Spine Journal
https://www.readbyqxmd.com/read/28551808/mitochondrial-heteroplasmy
#2
George B Stefano, Christina Bjenning, Fuzhou Wang, Nan Wang, Richard M Kream
Genetic polymorphisms, in concert with well-characterized etiology and progression of major pathologies, plays a significant role in aberrant processes afflicting human populations. Mitochondrial heteroplasmy represents a dynamically determined co-expression of inherited polymorphisms and somatic pathology in varying ratios within individual mitochondrial DNA (mtDNA) genomes with repetitive patterns of tissue specificity. The ratios of the MtDNA genomes represent a balance between healthy and pathological cellular outcomes...
2017: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/28551707/nutritional-therapy-in-very-early-onset-inflammatory-bowel-disease-a-case-report
#3
Talya L Miller, Dale Lee, Mathew Giefer, Ghassan Wahbeh, David L Suskind
Inflammatory bowel disease (IBD) is a chronic inflammatory disease of the gastrointestinal tract caused by a dysregulated immune response to the fecal microbiota. Very early-onset inflammatory bowel disease (VEO-IBD) refers to a subgroup of pediatric patients with IBD diagnosed before 6 years of age. This subgroup is often characterized by increased severity, aggressive progression, strong family history of IBD, and often poor response to conventional treatments. Nutritional therapies have been utilized to treat IBD, but their role in VEO-IBD is unclear...
May 27, 2017: Digestive Diseases and Sciences
https://www.readbyqxmd.com/read/28551357/padi4-polymorphisms-and-the-functional-haplotype-are-associated-with-increased-rheumatoid-arthritis-susceptibility-a-replication-study-in-a-southern-mexican-population
#4
Christian Johana Baños-Hernández, José Eduardo Navarro Zarza, Isela Parra Rojas, Mirna Vázquez Villamar, Jorge Ramón Padilla-Gutiérrez, Yeminia Valle, Zyanya Reyes-Castillo, Nora Magdalena Torres-Carrillo, Samuel García-Arellano, Lorena Michele Brennan-Bourdon, José Francisco Muñoz-Valle
Rheumatoid arthritis (RA) is a common autoimmune disease with a complex genetic background. The peptidyl arginine deiminase type IV (PADI4) gene has been associated with RA susceptibility in several populations. We addressed the relationship between three exonic PADI4 gene single nucleotide polymorphisms (SNPs) PADI4_89 (rs11203366), PADI4_90 (rs11203367) and PADI4_92 (rs874881) and related haplotypes with RA in a population from Southern México. This study included 200 RA patients and 200 control subjects...
May 24, 2017: Human Immunology
https://www.readbyqxmd.com/read/28551195/association-analysis-for-young-stock-survival-index-with-imputed-whole-genome-sequence-variants-in-nordic-holstein-cattle
#5
Xiaoping Wu, Bernt Guldbrandtsen, Ulrik Sander Nielsen, Mogens Sandø Lund, Goutam Sahana
Identification of the genetic variants associated with calf survival in dairy cattle will aid in the elimination of harmful mutations from the cattle population and the reduction of calf and young stock mortality rates. We used de-regressed estimated breeding values for the young stock survival (YSS) index as response variables in a genome-wide association study with imputed whole-genome sequence variants. A total of 4,610 bulls with estimated breeding values were genotyped with the Illumina BovineSNP50 (Illumina, San Diego, CA) single nucleotide polymorphism (SNP) genotyping array...
May 24, 2017: Journal of Dairy Science
https://www.readbyqxmd.com/read/28551095/an-in-depth-analysis-identifies-two-new-independent-signals-in-11q23-3-associated-with-vitiligo-in-the-chinese-han-population
#6
Suli Zhao, Fang Fang, Xianfa Tang, Jinfa Dou, Wenjun Wang, Xiaodong Zheng, Liangdan Sun, Anping Zhang
BACKGROUND: Vitiligo is an autoimmune disease, characterized by progressive loss of skin pigmentation, which is caused by the interactions of multiple factors, such as heredity, immunity and environment. Recently, a single nucleotide polymorphism (SNP) rs638893 at 11q23.3 region was identified as a risk factor for vitiligo in genome-wide association studies and multiple SNPs in this region have been associated with other autoimmune diseases. OBJECTIVE: This study aims to identify additional susceptibility variants associated with vitiligo at 11q23...
May 3, 2017: Journal of Dermatological Science
https://www.readbyqxmd.com/read/28550742/corrigendum-to-association-of-anril-gene-polymorphisms-with-major-adverse-cardiovascular-events-in-hemodialysis-patients-clinica-chimica-acta-2017-61-67
#7
A Arbiol-Roca, A Padró-Miquel, M Hueso, E Navarro, P Alía-Ramos, M T González-Álvarez, I Rama, J Torras, J M Grinyó, J M Cruzado, N Lloberas
No abstract text is available yet for this article.
May 24, 2017: Clinica Chimica Acta; International Journal of Clinical Chemistry
https://www.readbyqxmd.com/read/28550721/clinical-performance-of-the-veris-hcv-assay-for-hepatitis-c-virus-rna-quantification
#8
Laure Izquierdo, Corinne Prégermain, Corinne Hottelet, Gwenaëlle Decombe, Anne-Marie Roque-Afonso
BACKGROUND: Diagnosis of hepatitis C virus (HCV) infection and treatment monitoring rely on detection/quantification of HCV RNA and real-time polymerase chain reaction (PCR) techniques are expected to equivalently quantify the different HCV genotypes. OBJECTIVE: The clinical performance of the VERIS HCV assay for HCV RNA quantification was compared to that of the Abbott RealTime HCV assay. STUDY DESIGN: Qualitative concordance and quantitative comparison were evaluated on a first panel of 286 clinical samples containing HCV genotypes 1-6...
May 18, 2017: Journal of Clinical Virology: the Official Publication of the Pan American Society for Clinical Virology
https://www.readbyqxmd.com/read/28550647/genetic-variation-in-the-adipoq-gene-adiponectin-concentrations-and-risk-of-colorectal-cancer-a-mendelian-randomization-analysis-using-data-from-three-large-cohort-studies
#9
Katharina Nimptsch, Mingyang Song, Krasimira Aleksandrova, Michail Katsoulis, Heinz Freisling, Mazda Jenab, Marc J Gunter, Konstantinos K Tsilidis, Elisabete Weiderpass, H Bas Bueno-De-Mesquita, Dawn Q Chong, Majken K Jensen, Chunsen Wu, Kim Overvad, Tilman Kühn, Myrto Barrdahl, Olle Melander, Karin Jirström, Petra H Peeters, Sabina Sieri, Salvatore Panico, Amanda J Cross, Elio Riboli, Bethany Van Guelpen, Robin Myte, José María Huerta, Miguel Rodriguez-Barranco, José Ramón Quirós, Miren Dorronsoro, Anne Tjønneland, Anja Olsen, Ruth Travis, Marie-Christine Boutron-Ruault, Franck Carbonnel, Gianluca Severi, Catalina Bonet, Domenico Palli, Jürgen Janke, Young-Ae Lee, Heiner Boeing, Edward L Giovannucci, Shuji Ogino, Charles S Fuchs, Eric Rimm, Kana Wu, Andrew T Chan, Tobias Pischon
Higher levels of circulating adiponectin have been related to lower risk of colorectal cancer in several prospective cohort studies, but it remains unclear whether this association may be causal. We aimed to improve causal inference in a Mendelian Randomization meta-analysis using nested case-control studies of the European Prospective Investigation into Cancer and Nutrition (EPIC, 623 cases, 623 matched controls), the Health Professionals Follow-up Study (HPFS, 231 cases, 230 controls) and the Nurses' Health Study (NHS, 399 cases, 774 controls) with available data on pre-diagnostic adiponectin concentrations and selected single nucleotide polymorphisms in the ADIPOQ gene...
May 26, 2017: European Journal of Epidemiology
https://www.readbyqxmd.com/read/28550605/high-throughput-snp-genotyping-of-modern-and-wild-emmer-wheat-for-yield-and-root-morphology-using-a-combined-association-and-linkage-analysis
#10
Stuart J Lucas, Ayten Salantur, Selami Yazar, Hikmet Budak
Durum wheat (Triticum turgidum var. durum Desf.) is a major world crop that is grown primarily in areas of the world that experience periodic drought, and therefore, breeding climate-resilient durum wheat is a priority. High-throughput single nucleotide polymorphism (SNP) genotyping techniques have greatly increased the power of linkage and association mapping analyses for bread wheat, but as yet there is no durum wheat-specific platform available. In this study, we evaluate the new 384HT Wheat Breeders Array for its usefulness in tetraploid wheat breeding by genotyping a breeding population of F6 hybrids, derived from multiple crosses between T...
May 26, 2017: Functional & Integrative Genomics
https://www.readbyqxmd.com/read/28550460/the-impact-of-non-genetic-and-genetic-factors-on-a-stable-warfarin-dose-in-thai-patients
#11
Nitsupa Wattanachai, Sutthida Kaewmoongkun, Burabha Pussadhamma, Pattarapong Makarawate, Chaiyasith Wongvipaporn, Songsak Kiatchoosakun, Suda Vannaprasaht, Wichittra Tassaneeyakul
PURPOSE: The aim of this study was to investigate the contributions of non-genetic and genetic factors on the variability of stable warfarin doses in Thai patients. METHODS: A total of 250 Thai patients with stable warfarin doses were enrolled in the study. Demographics and clinical data, e.g., age, body mass index, indications for warfarin and concomitant medications, were documented. Four single nucleotide polymorphisms in the VKORC1 - 1639G > A, CYP2C9*3, CYP4F2 rs2108622, and UGT1A1 rs887829 genes were detected from gDNA using TaqMan allelic discrimination assays...
May 26, 2017: European Journal of Clinical Pharmacology
https://www.readbyqxmd.com/read/28550450/abcc4-functional-snp-in-the-3-splice-acceptor-site-of-exon-8-g912t-is-associated-with-unfavorable-clinical-outcome-in-children-with-acute-lymphoblastic-leukemia
#12
Hamzeh Mesrian Tanha, Soheila Rahgozar, Marjan Mojtabavi Naeini
OBJECTIVES: ATP-binding cassette subfamily C member 4 (ABCC4) encoding MRP4 protein is involved in pediatric acute lymphoblastic leukemia (ALL) drug resistance. The nonsynonymous single nucleotide polymorphism (SNP) rs2274407 (G912T; K304N) is located in the 3' splice acceptor site of exon 8 of ABCC4 pre-mRNA. The aim of this study was to investigate the prognostic value of rs2274407 in childhood ALL and its possible functional effect on MRP4. METHODS: ABCC4 G912T SNP was genotyped in 145 Iranian Philadelphia-negative (Ph(-)) children with ALL using modified tetra-primer ARMS PCR and evaluated for possible association with 3-year disease-free survival (3DFS)...
May 26, 2017: Cancer Chemotherapy and Pharmacology
https://www.readbyqxmd.com/read/28550400/association-study-of-cd154-polymorphisms-and-serum-cd154-level-with-systemic-lupus-erythematous-in-chinese-population
#13
Yang Xiang, Jing Guo, You-Fan Peng, Hua-Tuo Huang, Yan Lan, Ye-Sheng Wei
The aim of this study was to investigate the association of three polymorphisms of CD154 with risk of SLE in Chinese population. The study population comprised 770 Chinese individuals, including 350 SLE patients and 420 healthy controls. The gene polymorphism was measured using Snapshot SNP genotyping assays and confirmed by sequencing. Serum CD154 (sCD154) level was measured by ELISA. Compared with control group, sCD154 levels were significantly increased in case group (P < 0.001). The minor C allele of rs1126535 was associated with a significantly increased risk of SLE as compared to the major T allele (P < 0...
May 26, 2017: Rheumatology International
https://www.readbyqxmd.com/read/28550371/synchronous-gemistocytic-astrocytoma-idh-mutant-and-oligodendroglioma-idh-mutant-and-1p-19q-codeleted-in-a-patient-with-ccdc26-polymorphism
#14
Rachael A Vaubel, Thomas M Kollmeyer, Alissa A Caron, Emily G Barr Fritcher, Jesse S Voss, Haohai Liang, Robert B Jenkins, Caterina Giannini, Benjamin R Kipp
No abstract text is available yet for this article.
May 26, 2017: Acta Neuropathologica
https://www.readbyqxmd.com/read/28550367/in-vitro-study-of-antioxidant-and-antibacterial-activities-of-lactobacillus-probiotic-spp
#15
Z Pourramezan, R Kasra Kermanshahi, M Oloomi, A Aliahmadi, H Rezadoost
This study investigated the influence of aeration and minimal medium conditions on antioxidant and antibacterial activities of 21 probiotic Lactobacillus strains isolated from dairy products. The probiotic potential of the isolates was evaluated by pH and bile tolerance. Random amplified polymorphic DNA polymerase chain reaction (RAPD-PCR) was used to confirm the phenotypic identification of isolates. Antioxidant producer isolates were screened by resistance to reactive oxygen species (ROS). The antioxidant and antibacterial activities of extracellular materials after 48 h fermentation with antioxidative strains were determined using 2,2-diphenyl-1-picrylhydrazyl (DPPH) and broth microdilution assays, respectively...
May 26, 2017: Folia Microbiologica
https://www.readbyqxmd.com/read/28550262/increased-plasma-homocysteine-level-is%C3%A2-associated-with-executive-dysfunction-in%C3%A2-type-2-diabetic-patients-with-mild-cognitive-impairment
#16
Sai Tian, Jing Han, Rong Huang, Jie Sun, Rongrong Cai, Yanjue Shen, Shaohua Wang
BACKGROUND: Homocysteine (Hcy) is involved in the pathogenesis of type 2 diabetes mellitus (T2DM) and Alzheimer's disease. OBJECTIVE: We aimed to investigate the role of Hcy in T2DM patients with mild cognitive impairment (MCI), and to determine whether methylene tetrahydrofolate reductase (MTHFR) C677T or cystathionine beta-synthase (CBS) 844ins68 polymorphism is related to T2DM-associated MCI. METHODS: We recruited 285 T2DM patients and divided them into two groups, 140 patients with MCI, and 145 healthy-cognition controls, on the basis of Montreal Cognitive Assessment (MoCA) scores...
May 25, 2017: Journal of Alzheimer's Disease: JAD
https://www.readbyqxmd.com/read/28550240/the-role-of-gst-polymorphism-in-reperfusion-induced-oxidative-stress-inflammatory-responses-and-clinical-complications-after-surgical-and-percutaneous-coronary-intervention
#17
Örs Pintér, Péter Hardi, Tibor Nagy, Balázs Gasz, Viktoria Kovács, Endre Arató, László Sínay, László Lénárd, Gábor Jancsó
BACKGROUND: Patients having coronary artery disease treated by coronary bypass or PCI procedure are exposed to tissue damage because of the phenomenon called reperfusion injury. Reperfusion injury can be characterized/monitored by oxidative stress parameters, inflammatory markers and by post-operative complication rate. OBJECTIVE: Beyond the obvious factors determining its severity (affected myocardial mass, ischaemic time, collateral circulation etc.) we examined the GST enzyme group's most cardio selective member, GSTP1 and its genetic polymorphism if there is any genetically determined preventive effect on the above-mentioned parameters...
May 24, 2017: Clinical Hemorheology and Microcirculation
https://www.readbyqxmd.com/read/28550065/exceptional-durable-response-to-everolimus-in-a-patient-with-biphenotypic-breast-cancer-harboring-an-stk11-variant
#18
Christine A Parachoniak, Andrew Rankin, Bernadette Gaffney, Ryan Hartmaier, Dan Spritz, Rachel L Erlich, Vincent A Miller, Deborah Morosini, Phil Stephens, Jeffrey S Ross, John Keech, Juliann Chmielecki
Metastatic triple negative breast cancer comprises 12-17% of breast cancers and carries a poor prognosis relative to other breast cancer subtypes. Treatment options in this disease are largely limited to systemic chemotherapy. A majority of clinical studies assessing efficacy of targeted therapeutics (e.g. the mTOR inhibitor everolimus) in advanced breast cancer patients have not utilized predictive genomic biomarker-based selection and have reported only modest improvement in clinical outcome relative to standard of care...
May 26, 2017: Cold Spring Harbor Molecular Case Studies
https://www.readbyqxmd.com/read/28550058/whole-genome-and-core-genome-multilocus-sequence-typing-and-single-nucleotide-polymorphism-analyses-of-listeria-monocytogenes-associated-with-an-outbreak-linked-to-cheese-united-states-2013
#19
Yi Chen, Yan Luo, Heather Carleton, Ruth Timme, David Melka, Tim Muruvanda, Charles Wang, George Kastanis, Lee S Katz, Lauren Turner, Angela Fritzinger, Terence Moore, Robert Stones, Joseph Blankenship, Monique Salter, Mickey Parish, Thomas S Hammack, Peter S Evans, Cheryl L Tarr, Marc W Allard, Errol A Strain, Eric W Brown
Epidemiological findings of a listeriosis outbreak in 2013 implicated Hispanic-style cheese produced by Company A, and pulsed-field gel electrophoresis (PFGE) and whole genome sequencing (WGS) were performed on clinical isolates and representative isolates collected from Company A cheese and environmental samples during the investigation. The results strengthened the evidence for cheese as the vehicle. Surveillance sampling and WGS three months later revealed that the equipment purchased by Company B from Company A yielded an environmental isolate highly similar to all outbreak isolates...
May 26, 2017: Applied and Environmental Microbiology
https://www.readbyqxmd.com/read/28550012/the-genetic-architecture-of-ovariole-number-in-drosophila-melanogaster-genes-with-major-quantitative-and-pleiotropic-effects
#20
Amanda S Lobell, Rachel R Kaspari, Yazmin L Serrano Negron, Susan T Harbison
Ovariole number has a direct role in the number of eggs produced by an insect, suggesting that it is a key morphological fitness trait. Many studies have documented the variability of ovariole number and its relationship to other fitness and life-history traits in natural populations of Drosophila However, the genes contributing to this variability are largely unknown. Here we conducted a genome-wide association study of ovariole number in a natural population of flies. Using mutations and RNAi-mediated knockdown, we confirmed the effects of twenty-four candidate genes on ovariole number, including a novel gene, anneboleyn (formerly CG32000), that impacts both ovariole morphology and numbers of offspring produced...
May 26, 2017: G3: Genes—Genomes—Genetics
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