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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/28551778/screen-detected-gallstone-disease-and-cardiovascular-disease
#3
Daniel Mønsted Shabanzadeh, Tea Skaaby, Lars Tue Sørensen, Torben Jørgensen
Knowledge about temporal associations for screen-detected gallstone disease and cardiovascular disease is limited. The objective of this study was to determine if screen-detected gallstones or cholecystectomy was associated with development of cardiovascular disease. A cohort study of three randomly selected groups from the general population of Copenhagen was performed. Participants (n = 5928) were examined 1982-1992 and underwent abdominal ultrasound examination to detect gallstone disease and were not informed of their gallstone status...
May 27, 2017: European Journal of Epidemiology
https://www.readbyqxmd.com/read/28551389/mutation-analysis-of-ctnnb1-gene-and-the-ras-pathway-genes-kras-nras-braf-and-pik3ca-in-eyelid-sebaceous-carcinomas
#4
Mi Jung Kwon, Eun Sook Nam, Seong Jin Cho, Hye-Rim Park, Soo Kee Min, Jinwon Seo, Ji-Young Choe
Sebaceous carcinoma (SC) represents a rare, aggressive eyelid malignancy with poor prognosis and is a possible component of Muir-Torre syndrome. However, genetic features as driver mutations or potential therapeutic targets are not fully elucidated. Recent a few studies have shown that SCs have concurrently multiple mutations including RAS/RAF/MAPK and PI3K/Akt pathways via next-generation sequencing in western population. Because we recently demonstrated absence of KRAS mutations in Korean eyelid SCs, we extended our previous study to the analysis of NRAS, BRAF, PIK3CA, and CTNNB1 mutations, and the examination of related protein expressions in 15 eyelid SCs...
March 1, 2017: Pathology, Research and Practice
https://www.readbyqxmd.com/read/28551386/influence-of-mucinous-and-necrotic-tissue-in-colorectal-cancer-samples-on-kras-mutation-analysis
#5
Juliane Büttner, Annika Lehmann, Frederick Klauschen, Michael Hummel, Dido Lenze, Manfred Dietel, Korinna Jöhrens
Evaluation of the RAS mutation status is necessary for patients with advanced colorectal cancer to predict the response to anti-EGFR therapy. In routine diagnostics, FFPE tissue samples are tested by sequencing (amplicon-based NGS and Sanger) to obtain the RAS status of the patient. Samples that are collected after chemotherapy occasionally contain necrotic tissue. Furthermore, colorectal cancer tissue sometimes has mucinous components. This may pose a challenge to molecular analysis because mucinous tumor samples often contain only few tumor cells compared to solid tumor samples...
May 6, 2017: Pathology, Research and Practice
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
#6
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/28551263/identification-of-a-chicken-gallus-gallus-endogenous-reference-gene-actb-and-its-application-in-meat-adulteration
#7
Wenjin Xiang, Ying Shang, Qin Wang, Yuancong Xu, Pengyu Zhu, Kunlun Huang, Wentao Xu
The genes commonly used to determine meat species are mainly mitochondrial, but the copy numbers of such genes are high, meaning they cannot be accurately quantified. In this paper, for the first time, the chromosomal gene Actb was selected as an endogenous reference gene for chicken species. It was assayed in four different chicken varieties and 16 other species using both qualitative and quantitative PCR. No amplification of the Actb gene was found in species other than chicken and no allelic variations were detected in chicken...
November 1, 2017: Food Chemistry
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
#8
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/28550723/tyrosine-receptor-kinase-b-gene-variants-ntrk2-variants-are-associated-with-depressive-disorders-in-temporal-lobe-epilepsy
#9
Carolina Machado Torres, Marina Siebert, Hugo Bock, Suelen Mandelli Mota, Juliana Unis Castan, Francisco Scornavacca, Luiza Amaral de Castro, Maria Luiza Saraiva-Pereira, Marino Muxfeldt Bianchin
RATIONALE: Psychiatric comorbidities are highly prevalent in epilepsy, adding an important burden to the disease and profoundly affecting the quality of life of these individuals. Patients with temporal lobe epilepsy (TLE) are especially at risk to develop depression and several lines of evidence suggest that the association of depression with epilepsy might be related to common biological substrates. In this study, we test whether NTRK2 allele variants are associated with mood disorders or depressive disorders in patients with TLE...
May 24, 2017: Epilepsy & Behavior: E&B
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
#10
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/28550509/possible-involvement-of-acss2-gene-in-alcoholism
#11
Andrea Frozino Ribeiro, Roseli Boerngen de Lacerda, Diego Correia, Ana Lúcia Brunialti-Godard, Débora Marques de Miranda, Valdir Ribeiro Campos, Valéria Fernandes de Souza, Angela Maria Ribeiro
Alcoholism is a psychiatric disorder that composes one of the principal causes of health disabilities in the world population. Furthermore, the available pharmacotherapy is limited. Therefore, this research was carried out to better understand the basis of the underlying neurobiological processes of this disorder and to discover potential therapeutic targets. Real-time PCR analysis was performed in the amygdala nuclei region of the brain of mice exposed to a chronic three-bottle free-choice model (water, 5 and 10% v/v ethanol)...
May 26, 2017: Journal of Neural Transmission
https://www.readbyqxmd.com/read/28550460/the-impact-of-non-genetic-and-genetic-factors-on-a-stable-warfarin-dose-in-thai-patients
#12
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
#13
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
#14
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/28550290/differential-methylation-is-associated-with-non-syndromic-cleft-lip-and-palate-and-contributes-to-penetrance-effects
#15
Lucas Alvizi, Xiayi Ke, Luciano Abreu Brito, Rimante Seselgyte, Gudrun E Moore, Philip Stanier, Maria Rita Passos-Bueno
Non-syndromic cleft lip and/or palate (NSCLP) is a common congenital malformation with a multifactorial model of inheritance. Although several at-risk alleles have been identified, they do not completely explain the high heritability. We postulate that epigenetic factors as DNA methylation might contribute to this missing heritability. Using a Methylome-wide association study in a Brazilian cohort (67 NSCLP, 59 controls), we found 578 methylation variable positions (MVPs) that were significantly associated with NSCLP...
May 26, 2017: Scientific Reports
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/28550261/effect-of-apoe-%C3%AE%C2%B54-genotype-on-metabolic-biomarkers-in-aging-and-alzheimer-s-disease
#17
Jill Morris K, Roxanne Adeline Z Uy, Eric D Vidoni, Heather M Wilkins, Ashley E Archer, John P Thyfault, John M Miles, Jeffrey M Burns
Alzheimer's disease (AD) may have heterogeneous pathophysiological underpinnings, with risk factors including apolipoprotein rmvarep4 (APOE4) genotype and insulin resistance. We hypothesized that distinct phenotypes exist within AD. We examined APOE4 and metabolic biomarkers in 338 subjects (n = 213 nondemented (ND), n = 125 AD). We further characterized steady state free fatty acid (FFA) levels in a subset of 45 participants who had also participated in a hyperinsulinemic-euglycemic clamp. Insulin resistance (HOMA-IR) was elevated in AD versus ND (p = 0...
May 25, 2017: Journal of Alzheimer's Disease: JAD
https://www.readbyqxmd.com/read/28550258/effect-of-apoe-genotype-on-amyloid-deposition-brain-volume-and-memory-in-cognitively-normal-older-individuals
#18
Yen Ying Lim, Robert Williamson, Simon M Laws, Victor L Villemagne, Pierrick Bourgeat, Christopher Fowler, Stephanie Rainey-Smith, Olivier Salvado, Ralph N Martins, Christopher C Rowe, Colin L Masters, Paul Maruff
BACKGROUND: The association between the apolipoprotein E (APOE) ɛ4 allele and high risk of developing Alzheimer's disease (AD) dementia before the age of 80 has been recognized for over 30 years. However, the timing and mode of action of APOE is not understood, nor has there been a detailed analysis of the effect of APOE genotype on memory, hippocampal volume, and amyloid-β (Aβ) levels in cognitively normal adults. OBJECTIVE: Examine the effect of APOE allelic genotype on the relationship between Aβ levels, hippocampal volume, and memory in cognitively normal adults...
May 25, 2017: Journal of Alzheimer's Disease: JAD
https://www.readbyqxmd.com/read/28550244/apoe-%C3%AE%C2%B54-modulation-of-training-outcomes-in-several-cognitive-domains-in-a-sample-of-cognitively-intact-older-adults
#19
Ramón López-Higes, Inmaculada C Rodríguez-Rojo, José M Prados, Pedro Montejo, David Del-Río, María Luisa Delgado-Losada, Mercedes Montenegro, David López-Sanz, Ana Barabash
BACKGROUND: Most research points to the ɛ4 allele of the apolipoprotein E (APOE) gene as the most recognizable genetic risk factor associated with Alzheimer's disease pathogenesis. It has been also suggested that the APOEɛ4 allele has a negative influence on cognitive functioning, which begins long before cognitive impairment becomes manifest. However, still, little is known about the APOEɛ4 interaction with cognitive intervention programs. OBJECTIVE: The main goal of this study was to explore whether there was a differential APOE genotype modulation effect after cognitive training in different domains, such as language comprehension, executive functions, and memory...
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
#20
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
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