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Genetic association

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https://www.readbyqxmd.com/read/28227225/integration-of-snps-fmri-methylation-data-with-sparse-multi-cca-for-schizophrenia-study
#1
Wenxing Hu, Dongdong Lin, Vince D Calhoun, Yu-Ping Wang, Wenxing Hu, Dongdong Lin, Vince D Calhoun, Yu-Ping Wang, Vince D Calhoun, Yu-Ping Wang, Wenxing Hu, Dongdong Lin
Schizophrenia (SZ) is a complex mental disorder associated with genetic variations, brain development and activities, and environmental factors. There is an increasing interest in combining genetic, epigenetic and neuroimaging datasets to explore different level of biomarkers for the correlation and interaction between these diverse factors. Sparse Multi-Canonical Correlation Analysis (sMCCA) is a powerful tool that can analyze the correlation of three or more datasets. In this paper, we propose the sMCCA model for imaging genomics study...
August 2016: Conference Proceedings: Annual International Conference of the IEEE Engineering in Medicine and Biology Society
https://www.readbyqxmd.com/read/28226328/a-de-novo-pericentric-inversion-in-chromosome-4-associated-with-disruption-of-pitx2-and-a-microdeletion-in-4p15-2-in-a-patient-with-axenfeld-rieger-syndrome-and-developmental-delay
#2
Živilė Maldžienė, Eglė Preikšaitienė, Salomėja Ignotienė, Natalija Kapitanova, Algirdas Utkus, Vaidutis Kučinskas
Axenfeld-Rieger syndrome (ARS) is a clinically and genetically heterogeneous group of autosomal dominantly inherited malformations that predominantly affect the eye but are also associated with craniofacial dysmorphism and dental abnormalities. A broad spectrum of genetic alterations involving PITX2 and FOXC1 lead to ARS. We report on a 4-year-old girl with clinical features of ARS and developmental delay due to a de novo apparently balanced pericentric inversion in chromosome 4. This report emphasizes that complementary investigations are necessary to precisely characterize chromosomal rearrangements...
February 23, 2017: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/28226326/psoriasis-and-obesity
#3
Peter Jensen, Lone Skov
Psoriasis is a common chronic inflammatory skin disease with a complex pathogenesis consisting of a genetic component, immune dysfunction, and environmental factors. It is associated with numerous comorbidities including psoriatic arthritis, cardiovascular disease, metabolic syndrome, and obesity. Evidence suggests that obesity is a risk factor for incident psoriasis, aggravates existing psoriasis, and that weight reduction may improve the severity of psoriasis in overweight individuals. Excess body weight may interfere with the medical treatment used in psoriasis and adds to the cardiovascular risk profile in these patients, which underscores the importance of effective weight control regimens...
February 23, 2017: Dermatology: International Journal for Clinical and Investigative Dermatology
https://www.readbyqxmd.com/read/28226236/new-strategies-and-tools-in-quantitative-genetics-how-to-go-from-the-phenotype-to-the-genotype
#4
C Bazakos, M Hanemian, C Trontin, J M Jiménez-Gómez, O Loudet
Quantitative genetics has a long history in plants: It has been used to study specific biological processes, identify the factors important for trait evolution, and breed new crop varieties. These classical approaches to quantitative trait locus mapping have naturally improved with technology. In this review, we show how quantitative genetics has evolved recently in plants and how new developments in phenotyping, population generation, sequencing, gene manipulation, and statistics are rejuvenating both the classical linkage mapping approaches (for example, through nested association mapping) as well as the more recently developed genome-wide association studies...
February 6, 2017: Annual Review of Plant Biology
https://www.readbyqxmd.com/read/28226201/genomewide-association-study-of-alcohol-dependence-identifies-risk-loci-altering-ethanol-response-behaviors-in-model-organisms
#5
Amy E Adkins, Laura M Hack, Tim B Bigdeli, Vernell S Williamson, G Omari McMichael, Mohammed Mamdani, Alexis Edwards, Fazil Aliev, Robin F Chan, Poonam Bhandari, Richard C Raabe, Joseph T Alaimo, GinaMari G Blackwell, Arden A Moscati, Ryan S Poland, Benjamin Rood, Diana G Patterson, Dermot Walsh, John B Whitfield, Gu Zhu, Grant W Montgomery, Anjali K Henders, Nicholas G Martin, Andrew C Heath, Pamela A F Madden, Josef Frank, Monika Ridinger, Norbert Wodarz, Michael Soyka, Peter Zill, Marcus Ising, Markus M Nöthen, Falk Kiefer, Marcella Rietschel, Joel Gelernter, Richard Sherva, Ryan Koesterer, Laura Almasy, Hongyu Zhao, Henry R Kranzler, Lindsay A Farrer, Brion S Maher, Carol A Prescott, Danielle M Dick, Silviu A Bacanu, Laura D Mathies, Andrew G Davies, Vladimir I Vladimirov, Mike Grotewiel, M Scott Bowers, Jill C Bettinger, Bradley T Webb, Michael F Miles, Kenneth S Kendler, Brien P Riley
BACKGROUND: Alcohol Dependence (AD) shows evidence for genetic liability, but genes influencing risk remain largely unidentified. METHODS: We conducted a genomewide association study in 706 related AD cases and 1748 unscreened population controls from Ireland. We sought replication in 15,496 samples of European descent. We used model organisms to assess the role of orthologous genes in ethanol response behaviors. We tested one primate-specific gene for expression differences in case/control post-mortem brain tissue...
February 22, 2017: Alcoholism, Clinical and Experimental Research
https://www.readbyqxmd.com/read/28225966/chronic-tophaceous-gout-in-patients-with-psoriasis
#6
Laís Cruz Lobato, Jéssica Castiel Coutinho, Maria Zeli Moreira Frota, Antonio Pedro Mendes Schettini, Mônica Santos
Psoriasis is a chronic inflammatory disease of multifactorial etiology influenced by genetic, immunological, and environmental factors. We report the case of a patient with psoriasis for more than 25 years who developed hyperuricemia and chronic tophaceous gout with unusual appearance. In psoriasis, hyperuricemia may occur by increased epidermal cell turnover, which accelerates purine metabolism and has uric acid as the product of its catabolism. The association of psoriasis with hyperuricemia can trigger the onset of gouty arthritis, and pose a greater risk of developing other inflammatory comorbidities...
January 2017: Anais Brasileiros de Dermatologia
https://www.readbyqxmd.com/read/28225954/frequency-severity-and-related-factors-of-androgenetic-alopecia-in-dermatology-outpatient-clinic-hospital-based-cross-sectional-study-in-turkey
#7
Kubra Esen Salman, Ilknur Kivanc Altunay, Nihal Asli Kucukunal, Asli Aksu Cerman
BACKGROUND: Androgenetic alopecia (AGA) is a patterned hair loss occurring due to systemic androgen and genetic factors. It is the most common cause of hair loss in both genders. In recent years, many studies investigating the relation between systemic diseases and androgenetic alopecia presented controversial results. OBJECTIVES: In this study we aimed to investigate the frequency of androgenetic alopecia, the presence of accompanying systemic diseases, the relation between body mass index and androgenetic alopecia severity and the association of hyperandrogenemia signs with androgenetic alopecia in patients who referred to our outpatient clinic...
January 2017: Anais Brasileiros de Dermatologia
https://www.readbyqxmd.com/read/28225947/health-workers-cohort-study-methods-and-study-design
#8
Edgar Denova-Gutiérrez, Yvonne N Flores, Katia Gallegos-Carrillo, Paula Ramírez-Palacios, Berenice Rivera-Paredez, Paloma Muñoz-Aguirre, Rafael Velázquez-Cruz, Leticia Torres-Ibarra, Joacim Meneses-León, Pablo Méndez-Hernández, Rubí Hernández-López, Eduardo Salazar-Martínez, Juan O Talavera, Juan Tamayo, Susana Castañón, Ignacio Osuna-Ramírez, Leith León-Maldonado, Mario Flores, Nayeli Macías, Daniela Antúnez, Gerardo Huitrón-Bravo, Jorge Salmerón
Objective: To examine different health outcomes that are associated with specific lifestyle and genetic factors. Materials and methods: From March 2004 to April 2006, a sample of employees from three different health and academic institutions, as well as their family members, were enrolled in the study after providing informed consent. At baseline and follow-up (2010-2013), participants completed a self-administered questionnaire, a physical examination, and provided blood samples...
November 2016: Salud Pública de México
https://www.readbyqxmd.com/read/28225946/the-intellectual-developmental-disorders-mexico-study-situational-diagnosis-burden-genomics-and-intervention-proposal
#9
Eduardo Lazcano-Ponce, Gregorio Katz, Rocío Rodríguez-Valentín, Filipa de Castro, Betania Allen-Leigh, María Elena Márquez-Caraveo, Miguel Ángel Ramírez-García, Eduardo Arroyo-García, María Elena Medina-Mora, Gustavo Ángeles, José Edmundo Urquieta-Salomón, Luis Salvador-Carulla
Objective: This study aims to generate evidence on intellectual development disorders (IDD) in Mexico. Materials and methods: IDD disease burden will be estimated with a probabilistic model, using population-based surveys. Direct and indirect costs of catastrophic expenses of families with a member with an IDD will be evaluated. Genomic characterization of IDD will include: sequencing participant exomes and performing bioinformatics analyses to identify de novo or inherited variants through trio analysis; identifying genetic variants associated with IDD, and validating randomly selected variants by polymerase chain reaction (PCR) and sequencing or real-time quantitative PCR (qPCR)...
November 2016: Salud Pública de México
https://www.readbyqxmd.com/read/28225863/radiation-exposure-and-thyroid-cancer-a-review
#10
Maria Laura Iglesias, Angelica Schmidt, Abir Al Ghuzlan, Ludovic Lacroix, Florent de Vathaire, Sylvie Chevillard, Martin Schlumberger
The association between radiation exposure and the occurrence of thyroid cancer has been well documented, and the two main risk factors for the development of a thyroid cancer are the radiation dose delivered to the thyroid gland and the age at exposure. The risk increases after exposure to a mean dose of more than 0.05-0.1 Gy (50-100mGy). The risk is more important during childhood and decreases with increased age at exposure, being low in adults. After exposure, the minimum latency period before the appearance of thyroid cancers is 5 to 10 years...
February 16, 2017: Archives of Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28225862/association-between-c1q-gene-polymorphisms-and-autoimmune-thyroid-diseases
#11
Qiuming Yao, Jie Li, Xiaofei An, Wenjuan Jiang, Qiu Qin, Ronghua Song, Ni Yan, Danfeng Li, Yanfei Jiang, Wen Wang, Liangfeng Shi, Jin-An Zhang
Objective: In the present study, we aimed to assess the associations of C1q gene polymorphisms with autoimmune thyroid diseases (AITD) susceptibility. Subjects and methods: A set of 1,003 AITD patients (661 with Graves' disease and 342 with Hashimoto's thyroiditis) and 880 ethnically- and geographically-matched controls from Chinese Han population were included. Five common single nucleotide polymorphisms (SNPs) (rs294185, rs292001, rs682658, rs665691 and rs294179) in C1q gene locus were genotyped...
February 16, 2017: Archives of Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28225833/influence-of-hla-class-i-hla-class-ii-and-kirs-on-vertical-transmission-and-chronicity-of-hepatitis-c-virus-in-children
#12
A Ruiz-Extremera, E J Pavón-Castillero, M Florido, P Muñoz de Rueda, J A Muñoz-Gámez, J Casado, A Carazo, R Quiles, S M Jiménez-Ruiz, A Gila, J D Luna, J León, J Salmerón
BACKGROUND & AIM: There is evidence that maternal viral load of HCV during delivery influences the risk for Mother-to-child transmission (MTCT), but this does not explain all cases. We study the role of the immunogenetic profile (HLA, KIRs and KIR-ligand binding) of mothers and children in HCV-MTCT and in chronicity in the children. METHODOLOGY: 79 HCV-RNA (+) mothers and their 98 children were included. 24 children were infected, becoming chronic in 8 cases and clearing in 16...
2017: PloS One
https://www.readbyqxmd.com/read/28225830/ex-vivo-activation-of-cd4-t-cells-from-donors-on-suppressive-art-can-lead-to-sustained-production-of-infectious-hiv-1-from-a-subset-of-infected-cells
#13
John K Bui, Elias K Halvas, Elizabeth Fyne, Michele D Sobolewski, Dianna Koontz, Wei Shao, Brian Luke, Feiyu F Hong, Mary F Kearney, John W Mellors
The fate of HIV-infected cells after reversal of proviral latency is not well characterized. Simonetti, et al. recently showed that CD4+ T-cells containing intact proviruses can clonally expand in vivo and produce low-level infectious viremia. We hypothesized that reversal of HIV latency by activation of CD4+ T-cells can lead to the expansion of a subset of virus-producing cells rather than their elimination. We established an ex vivo cell culture system involving stimulation of CD4+ T-cells from donors on suppressive antiretroviral therapy (ART) with PMA/ionomycin (day 1-7), followed by rest (day 7-21), and then repeat stimulation (day 21-28), always in the presence of high concentrations of raltegravir and efavirenz to effectively block new cycles of viral replication...
February 22, 2017: PLoS Pathogens
https://www.readbyqxmd.com/read/28225778/gnb3-and-creb1-gene-polymorphisms-combined-with-negative-life-events-increase-susceptibility-to-major-depression-in-a-chinese-han-population
#14
Jingsong Ma, Lin Wang, Yanjie Yang, Zhengxue Qiao, Deyu Fang, Xiaohui Qiu, Xiuxian Yang, Xiongzhao Zhu, Jincai He, Hui Pan, Bo Ban, Yan Zhao, Hong Sui
BACKGROUND: Major depression (MD) is caused by a combination of genetic and environmental factors. In this study we investigated the interaction of variations in the G-protein beta 3 subunit (GNB3) and cAMP response element binding protein 1 (CREB1) genes with negative life events in the pathogenesis of MD. One GNB3 polymorphism (rs5443) and four CREB1 polymorphisms (rs2253206, rs2551941, rs6740584, rs11904814) were investigated based on known associations with MD. METHODS: 512 patients with MD and 513 control subjects were genotyped...
2017: PloS One
https://www.readbyqxmd.com/read/28225775/genetic-polymorphisms-and-plasma-levels-of-bcl11a-contribute-to-the-development-of-laryngeal-squamous-cell-carcinoma
#15
Jian Zhou, Yue Yang, Duo Zhang, Liang Zhou, Lei Tao, Li-Ming Lu
OBJECTIVE: We investigated the association between B-cell lymphoma/leukaemia 11A (BCL11A) rs11886868 and rs4671393 polymorphism, plasma BCL11A concentration, and the hazard of developing laryngeal squamous cell carcinoma (LSCC). PARTICIPANTS AND METHOD: In this research, 330 LSCC patients, 310 healthy controls, and 155 vocal leukoplakia patients were genotyped for the BCL11A (rs11886868 C/T and rs4671393 A/G) genotypes by pyrosequencing; the BCL11A concentration was measured using ELISA...
2017: PloS One
https://www.readbyqxmd.com/read/28225765/a-new-explanation-for-unexpected-evolution-in-body-size
#16
Loeske E B Kruuk
Bigger is apparently frequently fitter, and body size is typically heritable, so why don't animals in wild populations evolve towards larger sizes? Different explanations have been proposed for this apparent "paradox of stasis." A new study of snow voles in the Swiss Alps finds higher survival in animals with larger body mass and heritability of body mass, but, surprisingly, a genetic decline in body mass is also indicated. The authors suggest a novel explanation for this observation: the appearance of positive phenotypic selection is driven by a confounding variable of the age at which a juvenile is measured, whereas the evolutionarily relevant selection actually acts negatively on mass via its association with development time...
February 2017: PLoS Biology
https://www.readbyqxmd.com/read/28225726/computer-assisted-retinal-vessel-tortuosity-evaluation-in-novel-mutation-fabry-disease-towards-new-prognostic-markers
#17
Irene San Román, María-Elena Rodríguez, Orsola Caporossi, Claudia Zoppetti, Andrea Sodi, Alessandro Mecocci, David López, Beatriz Rodríguez, Juan-Ramón Gimeno
PURPOSE: Fabry disease is a rare lysosomal storage disorder with systemic involvement. The authors report on a large Fabry family with GLA p.M187R mutation and exhaustive ophthalmologic assessment. METHODS: Comprehensive systemic evaluation and genetic diagnosis were performed. Ophthalmologic evaluation included intraocular pressure/visual acuity measurement, refractometry, slit lamp examination, retinography, and optical coherence tomography. Three parameters quantified retinal vessel tortuosity: sum of angle metrics, product of angle distance, and triangular index...
March 2017: Retina
https://www.readbyqxmd.com/read/28225540/antituberculosis-drug-resistance-in-pulmonary-isolates-of-mycobacterium-tuberculosis-cuba-2012-2014
#18
Dihadenys Lemus, Miguel Echemendía, Raúl Díaz, María J Llanes, Lourdes Suárez, Antonio Marrero
INTRODUCTION Systematic surveillance of antituberculosis drug resistance allows identification of multidrug-resistant and extensively drug-resistant isolates of Mycobacterium tuberculosis. Surveillance studies of antituberculosis drug resistance systematically conducted in Cuba for over 15 years have revealed low circulation of multidrug-resistant tuberculosis, under 1% in new cases. OBJECTIVE Characterize antituberculosis drug resistance in isolates of M. tuberculosis recovered from patients with pulmonary tuberculosis in Cuba in 2012-2014...
January 2017: MEDICC Review
https://www.readbyqxmd.com/read/28225426/committee-opinion-no-691-carrier-screening-for-genetic-conditions
#19
(no author information available yet)
Carrier screening is a term used to describe genetic testing that is performed on an individual who does not have any overt phenotype for a genetic disorder but may have one variant allele within a gene(s) associated with a diagnosis. Information about carrier screening should be provided to every pregnant woman. Carrier screening and counseling ideally should be performed before pregnancy because this enables couples to learn about their reproductive risk and consider the most complete range of reproductive options...
March 2017: Obstetrics and Gynecology
https://www.readbyqxmd.com/read/28225421/committee-opinion-no-691-summary-carrier-screening-for-genetic-conditions
#20
(no author information available yet)
Carrier screening is a term used to describe genetic testing that is performed on an individual who does not have any overt phenotype for a genetic disorder but may have one variant allele within a gene(s) associated with a diagnosis. Information about carrier screening should be provided to every pregnant woman. Carrier screening and counseling ideally should be performed before pregnancy because this enables couples to learn about their reproductive risk and consider the most complete range of reproductive options...
March 2017: Obstetrics and Gynecology
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