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https://www.readbyqxmd.com/read/29332343/clinical-relevance-of-telomerase-polymorphism-for-breast-cancer-a-systematic-review
#1
Katherine de Souza Rodrigues, Joao Nunes de Matos Neto, Rodrigo Haddad, Diego Madureira de Oliveira
PURPOSE: To perform a systematic review to explore the clinical relevance of hTERT polymorphisms for breast cancer (BC). METHODS: Twenty-nine polymorphic regions were evaluated after comprehensive searching of 1236 articles, and selection of 9 publications (total of 12986 cases and 16758 controls). RESULTS: About the influence of hTERT variants in BC risk, 3 studies showed that the variant rs2736098 was associated with increasing risk. The variants rs10069690 and rs2853676 were also described as risk factors for BC...
November 2017: Journal of B.U.ON.: Official Journal of the Balkan Union of Oncology
https://www.readbyqxmd.com/read/29332303/mitochondrial-dna-nuclear-context-and-the-risk-for-carcinogenesis
#2
REVIEW
Brett A Kaufman, Martin Picard, Neal Sondheimer
The inheritance of mitochondrial DNA (mtDNA) from mother to child is complicated by differences in the stability of the mitochondrial genome. Although the germ line mtDNA is protected through the minimization of replication between generations, sequence variation can occur either through mutation or due to changes in the ratio between distinct genomes that are present in the mother (known as heteroplasmy). Thus, the unpredictability in transgenerational inheritance of mtDNA may cause the emergence of pathogenic mitochondrial and cellular phenotypes in offspring...
January 14, 2018: Environmental and Molecular Mutagenesis
https://www.readbyqxmd.com/read/29332266/association-between-the-interferon-gamma-874-t-a-polymorphism-and-the-severity-of-valvular-damage-in-patients-with-rheumatic-heart-disease
#3
Erhan Teker, A Basak Akadam-Teker, Oguz Ozturk, Allison Pinar Eronat, Kivanc Yalin, S Ebru Golcuk, Zehra Bugra
Interferon gamma (IFN-γ) is a multifunctional cytokine that plays an important role in modulating almost all phases of the immune response and may be responsible for the increased valvular fibrosis and calcification in the pathogenesis of rheumatic heart disease (RHD). The aim of this study was to investigate the possible relationship between the IFN-γ +874 T/A polymorphism and the severity of valvular damage in the Turkish population. The IFN-γ genotypes were determined in 152 RHD patients and 151 healthy controls by ARMS-PCR...
January 13, 2018: Biochemical Genetics
https://www.readbyqxmd.com/read/29332207/skeletal-muscle-expression-of-p43-a-truncated-thyroid-hormone-receptor-%C3%AE-affects-lipid-composition-and-metabolism
#4
François Casas, Gilles Fouret, Jérome Lecomte, Fabienne Cortade, Laurence Pessemesse, Emilie Blanchet, Chantal Wrutniak-Cabello, Charles Coudray, Christine Feillet-Coudray
Thyroid hormone is a major regulator of metabolism and mitochondrial function. Thyroid hormone also affects reactions in almost all pathways of lipids metabolism and as such is considered as the main hormonal regulator of lipid biogenesis. The aim of this study was to explore the possible involvement of p43, a 43 Kda truncated form of the nuclear thyroid hormone receptor TRα1 which stimulates mitochondrial activity. Therefore, using mouse models overexpressing p43 in skeletal muscle (p43-Tg) or lacking p43 (p43-/-), we have investigated the lipid composition in quadriceps muscle and in mitochondria...
January 13, 2018: Journal of Bioenergetics and Biomembranes
https://www.readbyqxmd.com/read/29332164/skewing-of-the-genetic-architecture-at-the-zmym3-human-specific-5-utr-short-tandem-repeat-in-schizophrenia
#5
F Alizadeh, A Bozorgmehr, J Tavakkoly-Bazzaz, M Ohadi
Differential expansion of a number of human short tandem repeats (STRs) at the critical core promoter and 5' untranslated region (UTR) support the hypothesis that at least some of these STRs may provide a selective advantage in human evolution. Following a genome-wide screen of all human protein-coding gene 5' UTRs based on the Ensembl database ( http://www.ensembl.org ), we previously reported that the longest STR in this interval is a (GA)32, which belongs to the X-linked zinc finger MYM-type containing 3 (ZMYM3) gene...
January 13, 2018: Molecular Genetics and Genomics: MGG
https://www.readbyqxmd.com/read/29332156/enterocytozoon-bieneusi-genotypes-in-tibetan-sheep-and-yaks
#6
Qiang Zhang, Jinzhong Cai, Pei Li, Lin Wang, Yaqiong Guo, Chunhua Li, Mengtong Lei, Yaoyu Feng, Lihua Xiao
Few studies have been conducted on the distribution of Enterocytozoon bieneusi genotypes in Tibetan sheep and yaks, which live outdoors in extreme climate with high altitude. In this study, fecal specimens from 312 Tibetan sheep and 554 yaks in Qinghai, China, were collected and examined for E. bieneusi by PCR-sequence analysis of the ribosomal internal transcribed spacer. Among them, 73 (23.4%) specimens from Tibetan sheep and 40 (7.2%) from yaks were positive for E. bieneusi. There were eight E. bieneusi genotypes in Tibetan sheep, including three known ones (BEB6, COS-I, and NESH5) and five novel ones (named as CHS13-CHS17)...
January 14, 2018: Parasitology Research
https://www.readbyqxmd.com/read/29332155/prevalence-of-the-pfdhfr-and-pfdhps-mutations-among-asymptomatic-pregnant-women-in-southeast-nigeria
#7
Ekpereonne Esu, Costanza Tacoli, Prabhanjan Gai, Nicole Berens-Riha, Michael Pritsch, Thomas Loescher, Martin Meremikwu
Sulfadoxine-pyrimethamine (SP) is the recommended drug for intermittent preventive treatment of malaria in pregnancy in most of sub-Saharan Africa. Resistance to SP is related to mutations in the dhfr and dhps gene of Plasmodium falciparum. This study determined the prevalence of Pfdhfr and Pfdhps polymorphisms found in asymptomatic pregnant women attending antenatal care in Calabar, Nigeria. From October 2013 to November 2014, asymptomatic pregnant women attending antenatal care clinics were enrolled after obtaining informed consent...
January 13, 2018: Parasitology Research
https://www.readbyqxmd.com/read/29332099/association-between-the-intron-8-vntr-polymorphism-of-the-dat1-gene-and-crack-cocaine-addiction
#8
Anderson R Stolf, Diana Müller, Jaqueline B Schuch, Gláucia C Akutagava-Martins, Luciano S P Guimaraes, Claudia M Szobot, Ricardo Halpern, Felix H P Kessler, Flavio Pechansky, Tatiana Roman
BACKGROUND: This study aims to compare allele and genotype frequencies of a 30-bp variable number of tandem repeats (VNTR) polymorphism of the DAT1 gene, located at intron 8, between adult crack cocaine users and nonaddicted individuals. Due to its involvement in drug addiction, this gene is a good candidate for molecular studies. METHODS: A cross-sectional sample of 239 current adult crack abusers or dependents from in- and outpatient clinics and 211 control individuals was collected in Brazil...
January 12, 2018: Neuropsychobiology
https://www.readbyqxmd.com/read/29332048/frequency-of-cardiovascular-genetic-risk-factors-in-a-calabrian-population-and-their-effects-on-dementia
#9
Raffaele Maletta, Nicoletta Smirne, Livia Bernardi, Maria Anfossi, Maura Gallo, Maria Elena Conidi, Rosanna Colao, Gianfranco Puccio, Sabrina A M Curcio, Valentina Laganà, Francesca Frangipane, Chiara Cupidi, Maria Mirabelli, Franca Vasso, Giusi Torchia, Maria G Muraca, Raffaele Di Lorenzo, Giuseppina Rose, Alberto Montesanto, Giuseppe Passarino, Amalia C Bruni
BACKGROUND: Several genetic variants playing a key role in cholesterol levels, blood pressure, and vascular dysfunction influence the risk of Alzheimer's disease (AD) and vascular dementia (VaD). The many meta-analysis studies carried out on large numbers of samples in different populations have not provided clear results to date, because a trans-ethnic shift of risk genotypes in different populations is often observed. OBJECTIVES: To determine genotypes allele frequencies of the polymorphisms most frequently identified to be correlated with cardio-cerebrovascular disease and AD in a Southern Italy population and to investigate their possible association with dementia...
2018: Journal of Alzheimer's Disease: JAD
https://www.readbyqxmd.com/read/29331962/splicing-variant-of-wdfy4-augments-mda5-signalling-and-the-risk-of-clinically-amyopathic-dermatomyositis
#10
Yuta Kochi, Yoichiro Kamatani, Yuya Kondo, Akari Suzuki, Eiryo Kawakami, Ryosuke Hiwa, Yukihide Momozawa, Manabu Fujimoto, Masatoshi Jinnin, Yoshiya Tanaka, Takashi Kanda, Robert G Cooper, Hector Chinoy, Simon Rothwell, Janine A Lamb, Jiří Vencovský, Heřman Mann, Koichiro Ohmura, Keiko Myouzen, Kazuyoshi Ishigaki, Ran Nakashima, Yuji Hosono, Hiroto Tsuboi, Hidenaga Kawasumi, Yukiko Iwasaki, Hiroshi Kajiyama, Tetsuya Horita, Mariko Ogawa-Momohara, Akito Takamura, Shinichiro Tsunoda, Jun Shimizu, Keishi Fujio, Hirofumi Amano, Akio Mimori, Atsushi Kawakami, Hisanori Umehara, Tsutomu Takeuchi, Hajime Sano, Yoshinao Muro, Tatsuya Atsumi, Toshihide Mimura, Yasushi Kawaguchi, Tsuneyo Mimori, Atsushi Takahashi, Michiaki Kubo, Hitoshi Kohsaka, Takayuki Sumida, Kazuhiko Yamamoto
OBJECTIVES: Idiopathic inflammatory myopathies (IIMs) are a heterogeneous group of rare autoimmune diseases in which both genetic and environmental factors play important roles. To identify genetic factors of IIM including polymyositis, dermatomyositis (DM) and clinically amyopathic DM (CADM), we performed the first genome-wide association study for IIM in an Asian population. METHODS: We genotyped and tested 496 819 single nucleotide polymorphism for association using 576 patients with IIM and 6270 control subjects...
January 13, 2018: Annals of the Rheumatic Diseases
https://www.readbyqxmd.com/read/29331882/association-analysis-of-slc6a4-and-htr2a-genes-with-obsessive-compulsive-disorder-influence-of-the-stin2-polymorphism
#11
Chayenne Karine Ferreira Gomes, Tamiris Vieira-Fonseca, Fernanda Brito Melo-Felippe, Juliana Braga de Salles Andrade, Leonardo F Fontenelle, Fabiana Barzotti Kohlrausch
BACKGROUND: Obsessive-Compulsive Disorder (OCD) is a complex and chronic disorder characterized by recurrent thoughts and/or repetitive behaviors. Given the potent anti-obsessional effects of the so-called serotonin reuptake inhibitors, genes related to serotonergic system may be well implicated in the etiopathogenesis of OCD. The gene encoding the serotonin transporter (SLC6A4), which shows a variable number of tandem repeat (VNTR) polymorphism in intron 2 (STin2), have been previously associated with OCD...
December 16, 2017: Comprehensive Psychiatry
https://www.readbyqxmd.com/read/29331875/the-association-between-vitamin-d-receptor-polymorphisms-and-multiple-sclerosis-in-a-turkish-population
#12
Ozden Kamisli, Ceren Acar, Mert Sozen, Mehmet Tecellioglu, Fatma Ebru Yücel, Dilara Vaizoglu, Cemal Özcan
BACKGROUND: Multiple sclerosis (MS) is a chronic, demyelinating disease of the central nervous system (CNS). Genetic and environmental factors are important in disease development. Many studies have investigated the relationship between MS and VDR polymorphisms. VDR gene polymorphism has not been previously studied in Turkish MS patients. We aimed to investigate the relationship between MS and VDR genotypes Taq I, Apa I and Fok I polymorphisms in a Turkish population. METHODS: 167 MS patients and 146 healthy control subjects were included in the present study...
January 9, 2018: Multiple Sclerosis and related Disorders
https://www.readbyqxmd.com/read/29331843/performance-of-genotypic-algorithms-for-predicting-tropism-for-hiv-1-crf01_ae-recombinant
#13
C Soulie, L Morand-Joubert, J Cottalorda, C Charpentier, P Bellecave, L Le Guen, S Yerly, B Montes, S Fafi-Kremer, J Dina, V Avettand-Fenoel, C Amiel, C Roussel, C Pallier, K Zafilaza, S Sayon, A Signori-Schmuck, A Mirand, M A Trabaud, S Berger, V Calvez, A G Marcelin
OBJECTIVES: There is no consensus about the performances of genotypic rules for predicting HIV-1 non-B subtype tropism. Three genotypic methods were compared for CRF01_AE HIV-1 tropism determination. METHODS: The V3 env region of 207 HIV-1 CRF01_AE and 178 B subtypes from 17 centers in France and 1 center in Switzerland was sequenced. Tropism was determined by Geno2Pheno algorithm with false positive rate (FPR) 5% or 10%, the 11/25 rule or the combined criteria of the 11/25, net charge rule and NXT/S mutations...
January 8, 2018: Journal of Clinical Virology: the Official Publication of the Pan American Society for Clinical Virology
https://www.readbyqxmd.com/read/29331787/val66met-functional-polymorphism-and-serum-protein-level-of-brain-derived-neurotrophic-factor-bdnf-in-acute-episode-of-schizophrenia-and-depression
#14
Maria Skibinska, Agata Groszewska, Pawel Kapelski, Aleksandra Rajewska-Rager, Joanna Pawlak, Monika Dmitrzak-Weglarz, Aleksandra Szczepankiewicz, Joanna Twarowska-Hauser
BACKGROUND: Brain-derived neurotrophic factor (BDNF) influences neuron differentiation during development as well as the synaptic plasticity and neuron survival in adulthood. BDNF has been implicated in the pathogenesis of schizophrenia and depression. Val66Met polymorphism and BDNF serum level are potential biomarkers in neuropsychiatric disorders. The aim of this study was to determine the effect of BDNF gene Val66Met functional polymorphism on serum BDNF concentration in patients with schizophrenia, during depression episode and in healthy control group...
August 12, 2017: Pharmacological Reports: PR
https://www.readbyqxmd.com/read/29331705/catechol-o-methyltransferase-comt-functional-haplotype-is-associated-with-recurrence-of-affective-symptoms-a-prospective-birth-cohort-study
#15
Shinsuke Koike, Darya Gaysina, Peter B Jones, Andrew Wong, Marcus Richards
BACKGROUND: Catechol-O-methyltransferase (COMT) polymorphisms play an essential role in dopamine availability in the brain. However, there has been no study investigating whether a functional four-SNP (rs6269-rs4633-rs4818-rs4680) haplotype is associated with affective symptoms over the life course. METHODS: We tested this using 2093 members of the Medical Research Council National Survey of Health and Development (MRC NSHD), who had been followed up since birth in 1946, and had data for COMT genotypes, adolescent emotional problems (age 13-15) and at least one measure of adult affective symptoms at ages 36, 43, 53, or 60-64 years...
January 6, 2018: Journal of Affective Disorders
https://www.readbyqxmd.com/read/29331685/nucleic-adaptability-of-heterokaryons-to-fungicides-in-a-multinucleate-fungus-sclerotinia-homoeocarpa
#16
Dylan Kessler, Hyunkyu Sang, Amanda Bousquet, Jonathan P Hulvey, Dawlyn Garcia, Siyeon Rhee, Yoichiro Hoshino, Toshihiko Yamada, Geunhwa Jung
Sclerotinia homoeocarpa is the causal organism of dollar spot in turfgrasses and is a multinucleate fungus with a history of resistance to multiple fungicide classes. Heterokaryosis gives rise to the coexistence of genetically distinct nuclei within a cell, which contributes to genotypic and phenotypic plasticity in multinucleate fungi. We demonstrate that field isolates, resistant to either a demethylation inhibitor or methyl benzimidazole carbamate fungicide, can form heterokaryons with resistance to each fungicide and adaptability to serial combinations of different fungicide concentrations...
January 10, 2018: Fungal Genetics and Biology: FG & B
https://www.readbyqxmd.com/read/29331631/the-edinburgh-ct-and-genetic-diagnostic-criteria-for-lobar-intracerebral-haemorrhage-associated-with-cerebral-amyloid-angiopathy-model-development-and-diagnostic-test-accuracy-study
#17
Mark A Rodrigues, Neshika Samarasekera, Christine Lerpiniere, Catherine Humphreys, Mark O McCarron, Philip M White, James A R Nicoll, Cathie L M Sudlow, Charlotte Cordonnier, Joanna M Wardlaw, Colin Smith, Rustam Al-Shahi Salman
BACKGROUND: Identification of lobar spontaneous intracerebral haemorrhage associated with cerebral amyloid angiopathy (CAA) is important because it is associated with a higher risk of recurrent intracerebral haemorrhage than arteriolosclerosis-associated intracerebral haemorrhage. We aimed to develop a prediction model for the identification of CAA-associated lobar intracerebral haemorrhage using CT features and genotype. METHODS: We identified adults with first-ever intracerebral haemorrhage diagnosed by CT, who died and underwent research autopsy as part of the Lothian IntraCerebral Haemorrhage, Pathology, Imaging and Neurological Outcome (LINCHPIN) study, a prospective, population-based, inception cohort...
January 10, 2018: Lancet Neurology
https://www.readbyqxmd.com/read/29331610/pseudomonas-putida-modulates-the-expression-of-mirnas-and-their-target-genes-in-response-to-drought-and-salt-stresses-in-chickpea-cicer-arietinum-l
#18
Ram Jatan, Puneet Singh Chauhan, Charu Lata
MicroRNAs are small non-coding regulatory RNA molecules that play an important role in the modulation of gene expression during various environmental stresses. Pseudomonas putida RA, a plant growth promoting rhizobacteria (PGPR) colonizes the root surface of plants improving their growth and development during abiotic stresses modulating the expression of stress-responsive genes; however, the impact of RA on stress responsive-miRNA remains elusive. The present study was an attempt to delineate the role of PGPR in modulating stress responsive-miRNAs in a tolerant desi chickpea genotype exposed to drought and salt stresses...
January 10, 2018: Genomics
https://www.readbyqxmd.com/read/29331600/a-real-world-study-on-the-genetic-cognitive-and-psychopathological-differences-of-obese-patients-clustered-according-to-eating-behaviours
#19
Mariarita Caroleo, Amedeo Primerano, Marianna Rania, Matteo Aloi, Valentina Pugliese, Fabio Magliocco, Gilda Fazia, Andrea Filippo, Flora Sinopoli, Marco Ricchio, Franco Arturi, Susana Jimenez-Murcia, Fernando Fernandez-Aranda, Pasquale De Fazio, Cristina Segura-Garcia
BACKGROUND: Considering that specific genetic profiles, psychopathological conditions and neurobiological systems underlie human behaviours, the phenotypic differentiation of obese patients according to eating behaviours should be investigated. The aim of this study was to classify obese patients according to their eating behaviours and to compare these clusters in regard to psychopathology, personality traits, neurocognitive patterns and genetic profiles. METHODS: A total of 201 obese outpatients seeking weight reduction treatment underwent a dietetic visit, psychological and psychiatric assessment and genotyping for SCL6A2 polymorphisms...
December 14, 2017: European Psychiatry: the Journal of the Association of European Psychiatrists
https://www.readbyqxmd.com/read/29331597/variation-of-genes-involved-in-oxidative-and-nitrosative-stresses-in-depression
#20
Paulina Wigner, Piotr Czarny, Ewelina Synowiec, Michał Bijak, Katarzyna Białek, Monika Talarowska, Piotr Galecki, Janusz Szemraj, Tomasz Sliwinski
The dominating hypothesis among numerous hypotheses explaining the pathogenesis of depressive disorders (DD) is the one involving oxidative and nitrosative stress. In this study, we examined the association between single-nucleotide polymorphisms of the genes encoding SOD2 (superoxide dismutase 2), CAT (catalase), GPx4 (glutathione peroxidase 4), NOS1 (nitric oxide synthase 1), NOS2 (nitric oxide synthase 2), and the development of depressive disorders. Our study was carried out on the DNA isolated from peripheral blood collected from 281 depressed patients and 229 controls...
December 9, 2017: European Psychiatry: the Journal of the Association of European Psychiatrists
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