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https://www.readbyqxmd.com/read/28434117/associations-of-tim-1-genetic-polymorphisms-with-asthma-a-meta-analysis
#1
Xiaochuan Xie, Xiaohan Shi, Peng Chen, Li Rao
PURPOSE: Recently, the roles of TIM-1 genetic polymorphisms in asthma have been extensively studied, with conflicting results. Therefore, we performed the present meta-analysis to better assess potential associations of TIM-1 genetic polymorphisms with asthma. METHODS: Eligible articles were searched in PubMed, Medline, EMBASE, Google Scholar, and CNKI up to December 2016. Odds ratios (ORs) and 95% confidence intervals (CIs) were used to detect any potential associations between TIM-1 genetic polymorphisms and asthma...
April 22, 2017: Lung
https://www.readbyqxmd.com/read/28434084/population-data-of-23-autosomal-str-loci-in-the-chinese-han-population-from-guangdong-province-in-southern-china
#2
Luyu Yang, Xiufeng Zhang, Lijuan Zhao, Yanan Sun, Jiajue Li, Renwu Huang, Liping Hu, Shengjie Nie
The genetic polymorphisms of 23 autosomal short tandem repeat (STR) loci included in the HuaxiaTM Platinum kit were evaluated in 1533 unrelated healthy Guangdong Han individuals living in the Guangdong Province in southern China. All of the loci reached the Hardy-Weinberg equilibrium. These loci were examined to determine the allele frequencies and forensic statistical parameters. The genetic relationship between the Guangdong Han and other Chinese populations was also estimated. The combined discrimination power and the probability of excluding the paternity of 23 STR loci were 0...
April 22, 2017: International Journal of Legal Medicine
https://www.readbyqxmd.com/read/28433949/the-dimensional-structure-of-psychopathology-in-22q11-2-deletion-syndrome
#3
Maria Niarchou, Tyler M Moore, Sunny X Tang, Monica E Calkins, Donna M McDonald-McGuinn, Elaine H Zackai, Beverly S Emanuel, Ruben C Gur, Raquel E Gur
BACKGROUND: 22q11.2 Deletion Syndrome (22q11.2DS) is one of the strongest known genetic risk factors for developing schizophrenia. Individuals with 22q11.2DS have high rates of neurodevelopmental disorders in childhood, while in adulthood ∼25% develop schizophrenia. Similar to the general population, high rates of comorbidity are common in 22q11.2DS. Employing a dimensional approach where psychopathology is examined at the symptom-level as complementary to diagnostic categories in a population at such high genetic risk for schizophrenia can help gain a better understanding of how psychopathology is structured as well as its genetic underpinnings...
April 15, 2017: Journal of Psychiatric Research
https://www.readbyqxmd.com/read/28433665/advancing-the-science-of-myocardial-recovery-with-mechanical-circulatory-support-a-working-group-of-the-national-heart-lung-and-blood-institute
#4
Stavros G Drakos, Francis D Pagani, Martha S Lundberg, J Timothy Baldwin
The medical burden of heart failure (HF) has spurred interest in clinicians and scientists to develop therapies to restore the function of a failing heart. To advance this agenda, the National Heart Lung Blood Institute (NHLBI) convened a Working Group of experts on June 2-3, 2016 in Bethesda Maryland to develop recommendations for the NHLBI aimed at advancing the science of cardiac recovery in the setting of mechanical circulatory support (MCS). MSC devices effectively reduce volume and pressure overload that drives the cycle of progressive myocardial dysfunction, thereby triggering structural and functional reverse remodeling...
April 19, 2017: Journal of Cardiac Failure
https://www.readbyqxmd.com/read/28433569/vitamin-d-binding-protein-rs7041-polymorphism-and-high-residual-platelet-reactivity-in-patients-receiving-dual-antiplatelet-therapy-with-clopidogrel-or-ticagrelor
#5
Monica Verdoia, Veronica Daffara, Patrizia Pergolini, Roberta Rolla, Paolo Marino, Giorgio Bellomo, Alessandro Carriero, Giuseppe De Luca
BACKGROUND: Vitamin D deficiency represents a major health problem in general population, especially for its association with cardiovascular disorders and thrombotic risk, even in patients on dual antiplatelet therapy (DAPT). Vitamin D Binding Protein (VDBP) is the main transporter of vitamin D in the bloodstream and genetic polymorphisms of this protein have been shown to account for a significant variability of vitamin D levels and its systemic effects. Contrasting data have linked the rs7041 T→G substitution with cardiovascular disease...
April 19, 2017: Vascular Pharmacology
https://www.readbyqxmd.com/read/28433410/echinococcus-oligarthrus-in-the-subtropical-region-of-argentina-first-integration-of-morphological-and-molecular-analyses-determines-two-distinct-populations
#6
Juan Pablo Arrabal, Hector Gabriel Avila, Maria Romina Rivero, Federico Camicia, Martin Miguel Salas, Sebastián A Costa, Carlos G Nocera, Mara C Rosenzvit, Laura Kamenetzky
Echinococcosis is a parasitic zoonosis that is considered as a neglected disease by the World Health Organization. The species Echinococcus oligarthrus is one of the causative agents of Neotropical echinococcosis, which is a poorly understood disease that requires a complex medical examination, may threaten human life, and is frequently associated with a low socioeconomic status. Morphological and genetic diversity in E. oligarthrus remains unknown. The aim of this work is to identify and characterize E. oligarthrus infections in sylvatic animals from the Upper Paraná Atlantic Forest in the province of Misiones, Argentina, by following an integrative approach that links morphological, genetic and ecological aspects...
March 27, 2017: Veterinary Parasitology
https://www.readbyqxmd.com/read/28433373/preimplantation-genetic-diagnosis-for-aneuploidy-testing-in-women-older-than-44-years-a-multicenter-experience
#7
Filippo Maria Ubaldi, Danilo Cimadomo, Antonio Capalbo, Alberto Vaiarelli, Laura Buffo, Elisabetta Trabucco, Susanna Ferrero, Elena Albani, Laura Rienzi, Paolo E Levi Setti
OBJECTIVE: To report laboratory and clinical outcomes in preimplantation genetic diagnosis for aneuploidies (PGD-A) cycles for women 44 to 47 years old. DESIGN: Multicenter, longitudinal, observational study. SETTING: In vitro fertilization (IVF) centers. PATIENT(S): One hundred and thirty-seven women aged 44.7 ± 0.7 years (range: 44.0-46.7) undergoing 150 PGD-A cycles during April 2013 to January 2016. INTERVENTION(S): Quantitative polymerase chain reaction-based PGD-A on trophectoderm biopsies and cryopreserved euploid single-embryo transfer (SET)...
April 19, 2017: Fertility and Sterility
https://www.readbyqxmd.com/read/28433111/epidemiology-and-introduction-to-the-clinical-presentation-of-wilson-disease
#8
Christine Lo, Oliver Bandmann
Our understanding of the epidemiology of Wilson disease has steadily grown since Sternlieb and Scheinberg's first prevalence estimate of 5 per million individuals in 1968. Increasingly sophisticated genetic techniques have led to revised genetic prevalence estimates of 142 per million. Various population isolates exist where the prevalence of Wilson disease is higher still, the highest being 885 per million from within the mountainous region of Rucar in Romania. In Sardinia, where the prevalence of Wilson disease has been calculated at 370 per million births, six mutations account for around 85% of Wilson disease chromosomes identified...
2017: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/28433093/impact-of-a-common-genetic-variation-associated-with-putamen-volume-on-neural-mechanisms-of-attention-deficit-hyperactivity-disorder
#9
Bing Xu, Tianye Jia, Christine Macare, Tobias Banaschewski, Arun L W Bokde, Uli Bromberg, Christian Büchel, Anna Cattrell, Patricia J Conrod, Herta Flor, Vincent Frouin, Jürgen Gallinat, Hugh Garavan, Penny Gowland, Andreas Heinz, Bernd Ittermann, Jean-Luc Martinot, Marie-Laure Paillère Martinot, Frauke Nees, Dimitri Papadopoulos Orfanos, Tomáš Paus, Luise Poustka, Michael N Smolka, Henrik Walter, Robert Whelan, Gunter Schumann, Sylvane Desrivières
OBJECTIVE: In a recent genomewide association study of subcortical brain volumes, a common genetic variation at rs945270 was identified as having the strongest effect on putamen volume, a brain measurement linked to familial risk for attention-deficit/hyperactivity disorder (ADHD). To determine whether rs945270 might be a genetic determinant of ADHD, its effects on ADHD-related symptoms and neural mechanisms of ADHD, such as response inhibition and reward sensitivity, were explored. METHOD: A large population sample of 1,834 14-year-old adolescents was used to test the effects of rs945270 on ADHD symptoms assessed through the Strengths and Difficulties Questionnaire and region-of-interest analyses of putamen activation by functional magnetic resonance imaging using the stop signal and monetary incentive delay tasks, assessing response inhibition and reward sensitivity, respectively...
May 2017: Journal of the American Academy of Child and Adolescent Psychiatry
https://www.readbyqxmd.com/read/28433087/paternal-age-alters-social-development-in-offspring
#10
Magdalena Janecka, Claire M A Haworth, Angelica Ronald, Eva Krapohl, Francesca Happé, Jonathan Mill, Leonard C Schalkwyk, Cathy Fernandes, Abraham Reichenberg, Frühling Rijsdijk
OBJECTIVE: Advanced paternal age (APA) at conception has been linked with autism and schizophrenia in offspring, neurodevelopmental disorders that affect social functioning. The current study explored the effects of paternal age on social development in the general population. METHOD: We used multilevel growth modeling to investigate APA effects on socioemotional development from early childhood until adolescence, as measured by the Strengths and Difficulties Questionnaire (SDQ) in the Twins Early Development Study (TEDS) sample...
May 2017: Journal of the American Academy of Child and Adolescent Psychiatry
https://www.readbyqxmd.com/read/28432837/identifying-genetic-sources-of-phenotypic-heterogeneity-in-orofacial-clefts-by-targeted-sequencing
#11
Jenna C Carlson, Margaret A Taub, Eleanor Feingold, Terri H Beaty, Jeffrey C Murray, Mary L Marazita, Elizabeth J Leslie
BACKGROUND: Orofacial clefts (OFCs), including nonsyndromic cleft lip with or without cleft palate (NSCL/P), are common birth defects. NSCL/P is highly heterogeneous with multiple phenotypic presentations. Two common subtypes of NSCL/P are cleft lip (CL) and cleft lip with cleft palate (CLP) which have different population prevalence. Similarly, NSCL/P can be divided into bilateral and unilateral clefts, with unilateral being the most common. Individuals with unilateral NSCL/P are more likely to be affected on the left side of the upper lip, but right side affection also occurs...
April 22, 2017: Birth Defects Res
https://www.readbyqxmd.com/read/28432771/a-rare-variant-in-tor1a-exon-5-associated-with-isolated-dystonia-in-southwestern-chinese
#12
Yuzhou Long, Yang Chen, Yuan Qian, Jianlin Wang, Lihua Luo, Xiaoqin Huang, Li Li, Jiayou Chu, Zhaoqing Yang, Hao Sun
BACKGROUND: TOR1A has been proposed as an important genetic factor in early-onset isolated dystonia. Variants located in the 3' untranslated region of TOR1A are of particular importance because they may influence gene expression, although related studies are limited. The objectives of the present study focused on variants in the TOR1A 3' untranslated region. METHODS: The last exon of TOR1A was sequenced in 229 cases with isolated dystonia and in 210 controls. In addition, 471 controls were tested to determine the frequency of the variants in the 3' untranslated region...
April 22, 2017: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/28432734/monogenic-diabetes-syndromes-locus-specific-databases-for-alstr%C3%A3-m-wolfram-and-thiamine-responsive-megaloblastic-anaemia
#13
Dewi Astuti, Ataf Sabir, Piers Fulton, Malgorzata Zatyka, Denise Williams, Carol Hardy, Gabriella Milan, Francesca Favaretto, Patrick Yu-Wai-Man, Julia Rohayem, Miguel López de Heredia, Tamara Hershey, Lisbeth Tranebjaerg, Jian-Hua Chen, Annabel Chaussenot, Virginia Nunes, Bess Marshall, Susan McAfferty, Vallo Tillmann, Pietro Maffei, Veronique Paquis-Flucklinger, Tarekign Geberhiwot, Wojciech Mlynarski, Kay Parkinson, Virginie Picard, Gema Esteban Bueno, Renuka Dias, Amy Arnold, Caitlin Richens, Richard Paisey, Fumi Urano, Robert Semple, Richard Sinnott, Timothy G Barrett
We developed a variant database for diabetes syndrome genes, using the Leiden Open Variation Database platform, containing observed phenotypes matched to the genetic variations. We populated it with 628 published disease associated variants (December 2016) for: WFS1 (n = 309), CISD2 (n = 3), ALMS1 (n = 268), and SLC19A2 (n = 48) for Wolfram type 1, Wolfram type 2, Alström and Thiamine-responsive megaloblastic anaemia syndromes respectively; and included 23 previously unpublished novel germline variants in WFS1 and 17 variants in ALMS1...
April 21, 2017: Human Mutation
https://www.readbyqxmd.com/read/28432351/early-measurement-of-il-10-predicts-the-outcomes-of-patients-with-acute-respiratory-distress-syndrome-receiving-extracorporeal-membrane-oxygenation
#14
Chia-Hsiung Liu, Shuenn-Wen Kuo, Wen-Je Ko, Pi-Ru Tsai, Shu-Wei Wu, Chien-Heng Lai, Chih-Hsien Wang, Yih-Sharng Chen, Pei-Lung Chen, Tze-Tze Liu, Shu-Chien Huang, Tzuu-Shuh Jou
Patients diagnosed with acute respiratory distress syndrome are generally severely distressed and associated with high morbidity and mortality despite aggressive treatments such as extracorporeal membrane oxygenation (ECMO) support. To identify potential biomarker of predicting value for appropriate use of this intensive care resource, plasma interleukin-10 along with relevant inflammatory cytokines and immune cell populations were examined during the early and subsequent disease courses of 51 critically ill patients who received ECMO support...
April 21, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28431641/infections-a-possible-risk-factor-for-type-2-diabetes
#15
Surajit Chakraborty, Rajasri Bhattacharyya, Dibyajyoti Banerjee
Diabetes mellitus is one of the biggest challenges to human health globally, with an estimated 95% of the global diabetic population having type 2 diabetes. Classical causes for type 2 diabetes, such as genetics and obesity, do not account for the high incidence of the disease. Recent data suggest that infections may precipitate insulin resistance via multiple mechanisms, such as the proinflammatory cytokine response, the acute-phase response, and the alteration of the nutrient status. Even pathogen products, such as lipopolysaccharide and peptidoglycans, can be diabetogenic...
2017: Advances in Clinical Chemistry
https://www.readbyqxmd.com/read/28431403/association-of-the-vdac3-gene-polymorphism-with-sperm-count-in-han-chinese-population-with-idiopathic-male-infertility
#16
Lianjun Pan, Qingzhen Liu, Jingyun Li, Wei Wu, Xinru Wang, Dan Zhao, Jiehua Ma
Voltage-dependent anion channel (VDAC) is a multifunctional channel protein across the outer mitochondrial membrane of somatic cells and participates in many physiological and pathophysiological processes. Up to now, only a few studies, including our previous studies, showed that VDAC exists in mammalian spermatozoa and is involved in spermatogenesis and sperm functions. There is no report about VDAC genetic variants in germinal tissues or cells. To investigate the possible association between VDAC genetic variants and human sperm quality, we performed semen analysis and variant Genotyping of VDAC3 subtype (rs7004637, rs16891278 and rs6773) of 523 Han-Chinese males with idiopathic infertility respectively by computer assisted semen analysis (CASA) and single nucleotide polymorphism (SNP) Genotyping assay...
April 6, 2017: Oncotarget
https://www.readbyqxmd.com/read/28431281/dengue-virus-replicates-and-accumulates-in-aedes-aegypti-salivary-glands
#17
Vincent Raquin, Louis Lambrechts
Dengue virus (DENV) is an RNA virus transmitted among humans by mosquito vectors, mainly Aedes aegypti. DENV transmission requires viral dissemination from the mosquito midgut to the salivary glands. During this process the virus undergoes several population bottlenecks, which are stochastic reductions in population size that restrict intra-host viral genetic diversity and limit the efficiency of natural selection. Despite the implications for virus transmission and evolution, DENV replication in salivary glands has not been directly demonstrated...
April 18, 2017: Virology
https://www.readbyqxmd.com/read/28431039/genomic-data-for-78-chickens-from-14-populations
#18
Diyan Li, Tiandong Che, Binlong Chen, Shilin Tian, Xuming Zhou, Guolong Zhang, Miao Li, Uma Gaur, Yan Li, Majing Luo, Long Zhang, Zhongxian Xu, Xiaoling Zhao, Huadong Yin, Yan Wang, Long Jin, Qianzi Tang, Huailiang Xu, Mingyao Yang, Rongjia Zhou, Ruiqiang Li, Qing Zhu, Mingzhou Li
Background: Since the domestication of the red jungle fowls ( Gallus gallus ) (dating back to ∼10,000 B.P.) in Asia, domestic chickens ( Gallus gallus domesticus ) have been subjected to the combined effects of natural selection and human-driven artificial selection; this has resulted in marked phenotypic diversity in a number of traits, including behavior, body composition, egg production and skin color. Population genomic variations through diversifying selection have not been fully investigated...
April 18, 2017: GigaScience
https://www.readbyqxmd.com/read/28431021/patterns-of-genome-wide-diversity-and-population-structure-in-the-drosophila-athabasca-species-complex
#19
Karen M Wong Miller, Ryan R Bracewell, Michael B Eisen, Doris Bachtrog
The Drosophila athabasca species complex contains three recently diverged, prezygotically isolated semispecies (Western-Northern, Eastern-A, and Eastern-B) that are distributed across North America and share zones of sympatry. Inferences based on a handful of loci suggest that this complex might be an ideal system for studying the genetics of incipient speciation and the evolution of prezygotic isolating mechanisms, but patterns of differentiation have not been characterized systematically. Here, we assembled a draft genome for D...
April 14, 2017: Molecular Biology and Evolution
https://www.readbyqxmd.com/read/28430897/genetic-variants-associated-with-the-root-system-architecture-of-oilseed-rape-brassica-napus-l-under-contrasting-phosphate-supply
#20
Xiaohua Wang, Yanling Chen, Catherine L Thomas, Guangda Ding, Ping Xu, Dexu Shi, Fabian Grandke, Kemo Jin, Hongmei Cai, Fangsen Xu, Bin Yi, Martin R Broadley, Lei Shi
Breeding crops with ideal root system architecture for efficient absorption of phosphorus is an important strategy to reduce the use of phosphate fertilizers. To investigate genetic variants leading to changes in root system architecture, 405 oilseed rape cultivars were genotyped with a 60K Brassica Infinium SNP array in low and high P environments. A total of 285 single-nucleotide polymorphisms were associated with root system architecture traits at varying phosphorus levels. Nine single-nucleotide polymorphisms corroborate a previous linkage analysis of root system architecture quantitative trait loci in the BnaTNDH population...
April 19, 2017: DNA Research: An International Journal for Rapid Publication of Reports on Genes and Genomes
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