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https://www.readbyqxmd.com/read/28651346/effect-of-apoe-%C3%AE%C2%B5-genotype-on-lipoprotein-a-and-the-associated-risk-of-myocardial-infarction-and-aortic-valve-stenosis
#1
Leonard Kritharides, Børge G Nordestgaard, Anne Tybjærg-Hansen, Pia R Kamstrup, Shoaib Afzal
Context: Lipoprotein(a) is a genetic risk factor for myocardial infarction and aortic valve stenosis. APOE ε2/3/4 genotypes affect plasma lipoprotein(a); however, the effects of APOE genotypes on the prediction of myocardial infarction and aortic valve stenosis by lipoprotein(a) are unknown. Objective: We tested the hypothesis that APOE ε2/3/4 genotype affects plasma lipoprotein(a), the contribution of plasma apoE levels this effect, and the associated risk of myocardial infarction and aortic valve stenosis...
June 23, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28651212/ar-c-106t-gene-polymorphism-and-diabetic-nephropathy-in-the-eastern-asians-with-t2dm-a-meta-analysis-including-2120-subjects
#2
Yan-Yan Li, Hui Wang, Xin-Xing Yang, Hong-Yu Geng, Ge Gong, Xin-Zheng Lu
BACKGROUND: Aldose reductase (AR) gene C-106T polymorphism may be associated with diabetic nephropathy (DN) susceptibility, but the results of individual studies remain controversial. OBJECTIVE AND METHODS: To explore the relationship between AR gene C-106T gene polymorphism and DN in the Eastern Asians with type 2 diabetes mellitus (T2DM) population, we conducted a meta-analysis of 2120 participants from 5 studies. Pooled odds ratio (ORs) and the corresponding 95% confidence interval (95% CI) were evaluated by either a fixed or random-effects models...
June 15, 2017: Diabetes Research and Clinical Practice
https://www.readbyqxmd.com/read/28651127/vascular-endothelial-growth-factor-single-nucleotide-polymorphisms-and-haplotypes-in-pre-eclampsia-a-case-control-study
#3
REVIEW
Marwa Ben Ali Gannoun, Safa A Al-Madhi, Hedia Zitouni, Nozha Raguema, Sawsen Meddeb, Feten Hachena Ben Ali, Touhami Mahjoub, Wassim Y Almawi
An association between vascular endothelial growth factor (VEGFA) gene variants and altered VEGF secretion and preeclampsia (PE) were described, often with inconclusive findings. An ethnic contribution to the association of VEGFA polymorphisms with PE and its associated features was also suggested. To investigate whether common VEGFA single nucleotide polymorphisms (SNP) are linked with PE and associated features in Tunisian women. A case-control study involving 300 women with PE, and 300 age-matched control women...
June 23, 2017: Cytokine
https://www.readbyqxmd.com/read/28651103/does-cortisol-moderate-the-environmental-association-between-peer-victimization-and-depression-symptoms-a-genetically-informed-twin-study
#4
Mara Brendgen, Isabelle Ouellet-Morin, Sonia Lupien, Frank Vitaro, Ginette Dionne, Michel Boivin
Many youths who are victimized by peers suffer from depression symptoms. However, not all bullying victims show depression symptoms and individuals' biological sensitivity may play an important moderating role in this regard. In line with this notion, peer victimization has been associated with increased depressive symptoms in youth with higher basal cortisol secretion. It is unclear, however, whether this moderating effect of cortisol really concerns the environmental effect of peer victimization on depression...
June 19, 2017: Psychoneuroendocrinology
https://www.readbyqxmd.com/read/28651038/elevated-adipsin-levels-are-associated-with-pulmonary-arterial-hypertension-in-systemic-sclerosis
#5
Benjamin D Korman, Roberta Goncalves Marangoni, Monique Hinchcliff, Sanjiv J Shah, Mary Carns, Aileen Hoffmann, Rosalind Ramsey-Goldman, John Varga
INTRODUCTION: Adipose tissues secrete adipokines, peptides with potent effects modulating fibrosis, inflammation, and vascular homeostasis. Dysregulated adipose tissue biology and adipokine balance have been recently implicated in systemic sclerosis (SSc). We sought to determine if altered circulating adipokine levels correlate with SSc disease subsets or clinical manifestations. MATERIALS AND METHODS: Multiplex assays were used to measure circulating adipokine levels in 198 patients with SSc and 33 healthy controls...
June 26, 2017: Arthritis & Rheumatology
https://www.readbyqxmd.com/read/28651022/can-natural-variation-in-grain-p-concentrations-be-exploited-in-rice-breeding-to-lower-fertilizer-requirements
#6
Fanmiao Wang, James Douglas Morrison King, Terry Rose, Tobias Kretzschmar, Matthias Wissuwa
Agricultural usage of phosphorus (P) is largely driven by the amount of P removed from fields in harvested plant matter as offtake needs to be balanced by P fertilizer application. Reducing P concentration in grains is a way to decrease P offtake and reduce P fertilizer requirements or soil P mining where insufficient P is applied. Our objective was to assesses the genotypic variation for grain P concentration present within the rice gene pool and resolve to what extent it is affected by environment (P supply) or associated with genetic factors...
2017: PloS One
https://www.readbyqxmd.com/read/28651019/in-silico-genomic-insights-into-aspects-of-food-safety-and-defense-mechanisms-of-a-potentially-probiotic-lactobacillus-pentosus-mp-10-isolated-from-brines-of-naturally-fermented-alore%C3%A3-a-green-table-olives
#7
Hikmate Abriouel, Beatriz Pérez Montoro, María Del Carmen Casado Muñoz, Charles W Knapp, Antonio Gálvez, Nabil Benomar
Lactobacillus pentosus MP-10, isolated from brines of naturally fermented Aloreña green table olives, exhibited high probiotic potential. The genome sequence of L. pentosus MP-10 is currently considered the largest genome among lactobacilli, highlighting the microorganism's ecological flexibility and adaptability. Here, we analyzed the complete genome sequence for the presence of acquired antibiotic resistance and virulence determinants to understand their defense mechanisms and explore its putative safety in food...
2017: PloS One
https://www.readbyqxmd.com/read/28650999/an-ancestral-haplotype-of-the-human-period2-gene-associates-with-reduced-sensitivity-to-light-induced-melatonin-suppression
#8
Tokiho Akiyama, Takafumi Katsumura, Shigeki Nakagome, Sang-Il Lee, Keiichiro Joh, Hidenobu Soejima, Kazuma Fujimoto, Ryosuke Kimura, Hajime Ishida, Tsunehiko Hanihara, Akira Yasukouchi, Yoko Satta, Shigekazu Higuchi, Hiroki Oota
Humans show various responses to the environmental stimulus in individual levels as "physiological variations." However, it has been unclear if these are caused by genetic variations. In this study, we examined the association between the physiological variation of response to light-stimulus and genetic polymorphisms. We collected physiological data from 43 subjects, including light-induced melatonin suppression, and performed haplotype analyses on the clock genes, PER2 and PER3, exhibiting geographical differentiation of allele frequencies...
2017: PloS One
https://www.readbyqxmd.com/read/28650965/epigenetic-adaptation-of-the-placental-serotonin-transporter-gene-slc6a4-to-gestational-diabetes-mellitus
#9
Sofia Blazevic, Marina Horvaticek, Maja Kesic, Peter Zill, Dubravka Hranilovic, Marina Ivanisevic, Gernot Desoye, Jasminka Stefulj
We tested the hypothesis that gestational diabetes mellitus (GDM) alters the DNA methylation pattern of the fetal serotonin transporter gene (SLC6A4), and examined the functional relevance of DNA methylation for regulation of the SLC6A4 expression in the human placenta. The study included 50 mother-infant pairs. Eighteen mothers were diagnosed with GDM and 32 had normal glucose tolerance (NGT). All neonates were of normal birth weight and born at term by planned Cesarean section. DNA and RNA were isolated from samples of tissue collected from the fetal side of the placenta immediately after delivery...
2017: PloS One
https://www.readbyqxmd.com/read/28650902/itpa-activity-in-adults-and-children-treated-with-or-without-azathioprine-relationship-between-tpmt-activity-thiopurine-metabolites-and-co-medications
#10
Boulieu Roselyne, Antony Citterio-Quentin, Mustapha Moulsma, Marie-Paule Gustin
BACKGROUND: The implication of inosine triphosphate pyrophosphatase (ITPA) on thiopurine drug response variability has been investigated but little data is available on its role on thiopurine metabolites. ITPA' ability to modify the thiopurine metabolite levels currently used to optimize azathioprine (AZA) therapy in relation to TPMT activity, the aim of this study is to investigate ITPA phenotype in a large population and to evaluate the relation between ITPA and TPMT activities and thiopurine metabolites...
June 22, 2017: Therapeutic Drug Monitoring
https://www.readbyqxmd.com/read/28650878/leber-hereditary-optic-neuropathy-bridging-the-translational-gap
#11
Neringa Jurkute, Patrick Yu-Wai-Man
PURPOSE OF REVIEW: Leber hereditary optic neuropathy (LHON) is the most common primary mitochondrial DNA (mtDNA) genetic disorder in the population. We address the clinical evolution of the disease, the secondary etiological factors that could contribute to visual loss, and the challenging task of developing effective treatments. RECENT FINDINGS: LHON is characterized by a preclinical phase that reflects retinal ganglion cell (RGC) dysfunction before rapid visual deterioration ensues...
June 24, 2017: Current Opinion in Ophthalmology
https://www.readbyqxmd.com/read/28650875/practical-approach-to-syndromic-pediatric-retinal-dystrophies
#12
Karthikeyan A Sadagopan
PURPOSE OF REVIEW: The purpose of this review is to outline those systemic disorders that are associated with pediatric retinal dystrophy, summarize important retinal, and nonretinal clues that aid in syndromic diagnosis, provide an approach for ophthalmic and systematic systemic examination, describe the important systemic findings seen in pediatric syndromic retinal dystrophies and highlight the role of genetic testing. RECENT FINDINGS: With profound advances being made in the field of molecular genetics, a definitive molecular etiology is increasingly being made even in rare and unusual forms of retinal dystrophies...
June 24, 2017: Current Opinion in Ophthalmology
https://www.readbyqxmd.com/read/28650851/genetic-risk-in-chronic-pancreatitis-the-misfolding-dependent-pathway
#13
Miklós Sahin-Tóth
PURPOSE OF REVIEW: Genetic risk in chronic pancreatitis is partly due to mutations that cause misfolding of digestive enzymes and elicit endoplasmic reticulum stress. This review examines recent developments in this concept. RECENT FINDINGS: The best characterized misfolding variants in the highly expressed digestive proteases cationic trypsinogen (PRSS1) and carboxypeptidase A1 (CPA1) are strong, causative risk factors for chronic pancreatitis and may be associated with autosomal dominant hereditary pancreatitis...
June 24, 2017: Current Opinion in Gastroenterology
https://www.readbyqxmd.com/read/28650708/genetic-polymorphisms-of-tumor-necrosis-factor-alpha-and-susceptibility-to-dengue-virus-infection-in-a-mexican-population
#14
Marina Sánchez-Leyva, Jorge Guillermo Sánchez-Zazueta, Juan Fidel Osuna-Ramos, Horacio Rendón-Aguilar, Rafael Félix-Espinoza, Denisse Stephania Becerra-Loaiza, Dulce Carolina Sánchez-García, José Geovanni Romero-Quintana, Hipolito Castillo Ureta, Ismael Velarde-Rodríguez, Jesús Salvador Velarde-Félix
To evaluate the association of the -308 and -238 tumor necrosis factor alpha (TNF-α) gene polymorphisms with clinical manifestations of dengue and TNF-α serum levels in a northwestern Mexican population. The study populations included dengue fever (DF) and dengue hemorrhagic fever (DHF) patients, and a group of healthy controls (HCs) without history of dengue. Polymerase chain reaction-restriction fragment length polymorphism and Enzyme-Linked Immunosorbent Assay were performed to determine genotypes and serum concentration of TNF-α, respectively...
June 26, 2017: Viral Immunology
https://www.readbyqxmd.com/read/28650670/the-sdf1-a-g-gene-variant-a-susceptibility-variant-for-myocardial-infarction
#15
Yaser Mansoori, Abdolreza Daraei, Zahra Zendebad, Farzan Madadizadeh, Behnam Mansoori, Mohammad Mehdi Naghizadeh, Farzaneh Darbeheshti
BACKGROUND: Although environmental factors play an important role in susceptibility to myocardial infarction (MI), genetic determinants also provide a significant contribution. This study aimed to determine whether or not MI susceptibility is influenced by SDF1-rs1801157A/G and HHEX-rs1111875 A/G polymorphisms in an Iranian population. METHODS: A total of 120 patients with MI and 120 healthy controls were enrolled. Blood samples were collected from all the participants for genomic DNA extraction and testing...
June 26, 2017: Genetic Testing and Molecular Biomarkers
https://www.readbyqxmd.com/read/28650588/genetic-study-of-the-braf-gene-reveals-a-new-variants-and-high-frequency-of-the-v600e-mutation-among-iranian-ameloblastoma-patients
#16
Maryam Soltani, Mohammad Amin Tabatabaiefar, Zhaleh Mohsenifar, Mohammad Reza Pourreza, Abbas Moridnia, Laleh Shariati, Seyyed Mohammad Razavi
BACKGROUND: Ameloblastoma is a benign, slow-growing, locally invasive tumor. It is one of the most prevalent odontogenic tumors, with an incidence rate of 1% of all oral tumors and approximately 18% of odontogenic tumors. A group of genes has been investigated in patients with ameloblastoma. The BRAF V600E mutation has been implicated as the most common mutation in ameloblastoma. The presence or absence of this mutation has been associated with several clinopathological properties, including location, age at diagnosis, histology, and prognosis...
June 26, 2017: Journal of Oral Pathology & Medicine
https://www.readbyqxmd.com/read/28650578/intake-of-energy-and-protein-is-associated-with-overweight-risk-at-age-5-5-years-results-from-the-prospective-teddy-study
#17
Andreas Beyerlein, Ulla M Uusitalo, Suvi M Virtanen, Kendra Vehik, Jimin Yang, Christiane Winkler, Mathilde Kersting, Sibylle Koletzko, Desmond Schatz, Carin Andrén Aronsson, Helena Elding Larsson, Jeffrey P Krischer, Anette-G Ziegler, Jill M Norris, Sandra Hummel
OBJECTIVE: The associations of energy, protein, carbohydrate, and fat intake with weight status up to the age of 5.5 years were prospectively assessed in The Environmental Determinants of Diabetes in the Young (TEDDY) study. METHODS: Food record data (over 3 days) and BMI measurements between 0.25 and 5.5 years were available from 5,563 children with an increased genetic risk for type 1 diabetes followed from shortly after birth. Odds ratios (ORs) were calculated for overweight and obesity by previous intake of energy, protein, carbohydrate, and fat with adjustment for potential confounders...
June 26, 2017: Obesity
https://www.readbyqxmd.com/read/28650483/disease-model-discovery-from-3-328-gene-knockouts-by-the-international-mouse-phenotyping-consortium
#18
Terrence F Meehan, Nathalie Conte, David B West, Julius O Jacobsen, Jeremy Mason, Jonathan Warren, Chao-Kung Chen, Ilinca Tudose, Mike Relac, Peter Matthews, Natasha Karp, Luis Santos, Tanja Fiegel, Natalie Ring, Henrik Westerberg, Simon Greenaway, Duncan Sneddon, Hugh Morgan, Gemma F Codner, Michelle E Stewart, James Brown, Neil Horner, Melissa Haendel, Nicole Washington, Christopher J Mungall, Corey L Reynolds, Juan Gallegos, Valerie Gailus-Durner, Tania Sorg, Guillaume Pavlovic, Lynette R Bower, Mark Moore, Iva Morse, Xiang Gao, Glauco P Tocchini-Valentini, Yuichi Obata, Soo Young Cho, Je Kyung Seong, John Seavitt, Arthur L Beaudet, Mary E Dickinson, Yann Herault, Wolfgang Wurst, Martin Hrabe de Angelis, K C Kent Lloyd, Ann M Flenniken, Lauryl M J Nutter, Susan Newbigging, Colin McKerlie, Monica J Justice, Stephen A Murray, Karen L Svenson, Robert E Braun, Jacqueline K White, Allan Bradley, Paul Flicek, Sara Wells, William C Skarnes, David J Adams, Helen Parkinson, Ann-Marie Mallon, Steve D M Brown, Damian Smedley
Although next-generation sequencing has revolutionized the ability to associate variants with human diseases, diagnostic rates and development of new therapies are still limited by a lack of knowledge of the functions and pathobiological mechanisms of most genes. To address this challenge, the International Mouse Phenotyping Consortium is creating a genome- and phenome-wide catalog of gene function by characterizing new knockout-mouse strains across diverse biological systems through a broad set of standardized phenotyping tests...
June 26, 2017: Nature Genetics
https://www.readbyqxmd.com/read/28650482/the-contribution-of-rare-variants-to-risk-of-schizophrenia-in-individuals-with-and-without-intellectual-disability
#19
Tarjinder Singh, James T R Walters, Mandy Johnstone, David Curtis, Jaana Suvisaari, Minna Torniainen, Elliott Rees, Conrad Iyegbe, Douglas Blackwood, Andrew M McIntosh, Georg Kirov, Daniel Geschwind, Robin M Murray, Marta Di Forti, Elvira Bramon, Michael Gandal, Christina M Hultman, Pamela Sklar, Aarno Palotie, Patrick F Sullivan, Michael C O'Donovan, Michael J Owen, Jeffrey C Barrett
By performing a meta-analysis of rare coding variants in whole-exome sequences from 4,133 schizophrenia cases and 9,274 controls, de novo mutations in 1,077 family trios, and copy number variants from 6,882 cases and 11,255 controls, we show that individuals with schizophrenia carry a significant burden of rare, damaging variants in 3,488 genes previously identified as having a near-complete depletion of loss-of-function variants. In patients with schizophrenia who also have intellectual disability, this burden is concentrated in risk genes associated with neurodevelopmental disorders...
June 26, 2017: Nature Genetics
https://www.readbyqxmd.com/read/28650275/first-description-of-blandm-7-carried-on-an-incx4-plasmid-in-escherichia-coli-st679-isolated-in-spain
#20
Paula Espinal, Elisenda Miró, Concepción Segura, Laura Gómez, Virginia Plasencia, Pere Coll, Ferran Navarro
This study describes the molecular characterization of an NDM-7 carbapenemase-producing Escherichia coli strain Ec188, recovered from a rectal swab of a male patient who had travelled to Pakistan before his hospitalization at the Hospital del Mar in Barcelona, Spain. The Ec188 isolate, assigned to a new multilocus sequence type ST679, was resistant to all beta-lactams, aminoglycosides (gentamicin, tobramycin, and with reduced susceptibility to amikacin), and ciprofloxacin. The blaNDM-7 gene was located on a 50 kb IncX4 plasmid (pEc188-NDM7), both in the original and transconjugant strains...
June 26, 2017: Microbial Drug Resistance: MDR: Mechanisms, Epidemiology, and Disease
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