keyword
MENU ▼
Read by QxMD icon Read
search

Genetic association

keyword
https://www.readbyqxmd.com/read/28813716/no-correlation-of-the-disease-severity-of-influenza-a-virus-infection-with-the-rs12252-polymorphism-of-the-interferon-induced-transmembrane-protein-3-gene
#1
Yong-Chan Kim, Byung-Hoon Jeong
The 2009 H1N1 influenza pandemic, which involved a more pathogenic virus than seasonal influenza viruses, rapidly spread around the world and caused many deaths in humans. The members of the interferon-induced transmembrane (IFITM) protein family prevent viral replication and are crucial for defending the host cell against influenza A virus (IAV). Several studies suggest that the CC genotype at the single nucleotide polymorphism (SNP) rs12252 of IFITM3 confers a genetic predisposition to pandemic influenza A in Europeans and Han Chinese, although one study in a British cohort failed to show an association...
August 17, 2017: Intervirology
https://www.readbyqxmd.com/read/28813674/an-integrated-systems-biology-approach-identifies-trim25-as-a-key-determinant-of-breast-cancer-metastasis
#2
Logan A Walsh, Mariano J Alvarez, Erich Y Sabio, Marsha Reyngold, Vladimir Makarov, Suranjit Mukherjee, Ken-Wing Lee, Alexis Desrichard, Şevin Turcan, Martin G Dalin, Vinagolu K Rajasekhar, Shuibing Chen, Linda T Vahdat, Andrea Califano, Timothy A Chan
At the root of most fatal malignancies are aberrantly activated transcriptional networks that drive metastatic dissemination. Although individual metastasis-associated genes have been described, the complex regulatory networks presiding over the initiation and maintenance of metastatic tumors are still poorly understood. There is untapped value in identifying therapeutic targets that broadly govern coordinated transcriptional modules dictating metastatic progression. Here, we reverse engineered and interrogated a breast cancer-specific transcriptional interaction network (interactome) to define transcriptional control structures causally responsible for regulating genetic programs underlying breast cancer metastasis in individual patients...
August 15, 2017: Cell Reports
https://www.readbyqxmd.com/read/28813670/nkx2-1-is-required-in-the-embryonic-septum-for-cholinergic-system-development-learning-and-memory
#3
Lorenza Magno, Caswell Barry, Christoph Schmidt-Hieber, Polyvios Theodotou, Michael Häusser, Nicoletta Kessaris
The transcription factor NKX2-1 is best known for its role in the specification of subsets of cortical, striatal, and pallidal neurons. We demonstrate through genetic fate mapping and intersectional focal septal deletion that NKX2-1 is selectively required in the embryonic septal neuroepithelium for the development of cholinergic septohippocampal projection neurons and large subsets of basal forebrain cholinergic neurons. In the absence of NKX2-1, these neurons fail to develop, causing alterations in hippocampal theta rhythms and severe deficiencies in learning and memory...
August 15, 2017: Cell Reports
https://www.readbyqxmd.com/read/28813580/genetic-association-of-the-parl-abcc5-htr3d-htr3c-locus-with-primary-angle-closure-glaucoma-in-chinese
#4
Fang Yao Tang, Li Ma, Pancy O S Tam, Chi Pui Pang, Clement C Y Tham, Li Jia Chen
Purpose: This study evaluates the associations of haplotype-tagging single nucleotide polymorphisms (SNPs) in the PARL-ABCC5-HTR3D-HTR3C region with primary angle closure glaucoma (PACG), with a view to identify the responsible SNP in this region. Methods: Thirty SNPs from the PARL-ABCC5-HTR3D-HTR3C region were genotyped in a Hong Kong Chinese cohort of 422 PACG patients and 400 control subjects, using TaqMan SNP genotyping assays. Single marker and haplotype-based association analyses were performed...
August 1, 2017: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/28813576/joint-analysis-of-nuclear-and-mitochondrial-variants-in-age-related-macular-degeneration-identifies-novel-loci-trpm1-and-abhd2-rlbp1
#5
Patrice J Persad, Iris M Heid, Daniel E Weeks, Paul N Baird, Eiko K de Jong, Jonathan L Haines, Margaret A Pericak-Vance, William K Scott
Purpose: Presently, 52 independent nuclear single nucleotide polymorphisms (nSNPs) have been associated with age-related macular degeneration (AMD) but their effects do not explain all its variance. Genetic interactions between the nuclear and mitochondrial (mt) genome may unearth additional genetic loci previously unassociated with AMD risk. Methods: Joint effects of nSNPs and selected mtSNPs were analyzed by two degree of freedom (2df) joint tests of association in the International AMD Genomics Consortium (IAMDGC) dataset (17,832 controls and 16,144 advanced AMD cases of European ancestry)...
August 1, 2017: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/28813562/polygenic-scores-for-major-depressive-disorder-and-risk-of-alcohol-dependence
#6
Allan M Andersen, Robert H Pietrzak, Henry R Kranzler, Li Ma, Hang Zhou, Xiaoming Liu, John Kramer, Samuel Kuperman, Howard J Edenberg, John I Nurnberger, John P Rice, Jay A Tischfield, Alison Goate, Tatiana M Foroud, Jacquelyn L Meyers, Bernice Porjesz, Danielle M Dick, Victor Hesselbrock, Eric Boerwinkle, Steven M Southwick, John H Krystal, Myrna M Weissman, Douglas F Levinson, James B Potash, Joel Gelernter, Shizhong Han
Importance: Major depressive disorder (MDD) and alcohol dependence (AD) are heritable disorders with significant public health burdens, and they are frequently comorbid. Common genetic factors that influence the co-occurrence of MDD and AD have been sought in family, twin, and adoption studies, and results to date have been promising but inconclusive. Objective: To examine whether AD and MDD overlap genetically, using a polygenic score approach. Design, Settings, and Participants: Association analyses were conducted between MDD polygenic risk score (PRS) and AD case-control status in European ancestry samples from 4 independent genome-wide association study (GWAS) data sets: the Collaborative Study on the Genetics of Alcoholism (COGA); the Study of Addiction, Genetics, and Environment (SAGE); the Yale-Penn genetic study of substance dependence; and the National Health and Resilience in Veterans Study (NHRVS)...
August 16, 2017: JAMA Psychiatry
https://www.readbyqxmd.com/read/28813538/genome-wide-association-analysis-reveals-genetic-loci-and-candidate-genes-for-feeding-behavior-and-eating-efficiency-in-duroc-boars
#7
Rongrong Ding, Jianping Quan, Ming Yang, Xingwang Wang, Enqin Zheng, Huaqiang Yang, Disheng Fu, Yang Yang, Linxue Yang, Zicong Li, Dewu Liu, Gengyuan Cai, Zhenfang Wu, Jie Yang
Efficient use of feed resources is a challenge in the pork industry because the largest variability in expenditure is attributed to the cost of fodder. Efficiency of feeding is directly related to feeding behavior. In order to identify genomic regions controlling feeding behavior and eating efficiency traits, 338 Duroc boars were used in this study. The Illumina Porcine SNP60K BeadChip was used for genotyping. Data pertaining to individual daily feed intake (DFI), total daily time spent in feeder (TPD), number of daily visits to feeder (NVD), average duration of each visit (TPV), mean feed intake per visit (FPV), mean feed intake rate (FR), and feed conversion ratio (FCR) were collected for these pigs...
2017: PloS One
https://www.readbyqxmd.com/read/28813503/detectable-hiv-rna-in-semen-of-hiv-controllers
#8
Marie-Laure Chaix, Faroudy Boufassa, Candice Meyzer, Marianne Leruez-Ville, Nadia Mahjoub, Marie-Laure Nere, Philippe Genet, Claudine Duvivier, Caroline Lascoux-Combes, Olivier Lambotte, Jade Ghosn
BACKGROUND: Whether spontaneous low levels of HIV-1 RNA in blood plasma correlate with low levels of HIV-1 RNA in seminal plasma has never been investigated in HIV controller (HIC) men so far. METHODS: HIC men enrolled in the ANRS CODEX cohort were eligible for the present study if they had no symptoms of sexually transmitted infections (STI). Two paired samples of blood and semen were collected four weeks apart. HIV-RNA was quantified in blood plasma (bpVL) and in seminal plasma (spVL), and cell-associated HIV-DNA was quantified in peripheral blood mononuclear cells (PBMC) and in non-sperm cells (NSC)...
2017: PloS One
https://www.readbyqxmd.com/read/28813500/telomere-biology-and-telomerase-mutations-in-cirrhotic-patients-with-hepatocellular-carcinoma
#9
Flávia S Donaires, Natália F Scatena, Raquel M Alves-Paiva, Joshua D Podlevsky, Dhenugen Logeswaran, Barbara A Santana, Andreza C Teixeira, Julian J-L Chen, Rodrigo T Calado, Ana L C Martinelli
Telomeres are repetitive DNA sequences at linear chromosome termini, protecting chromosomes against end-to-end fusion and damage, providing chromosomal stability. Telomeres shorten with mitotic cellular division, but are maintained in cells with high proliferative capacity by telomerase. Loss-of-function mutations in telomere-maintenance genes are genetic risk factors for cirrhosis development in humans and murine models. Telomerase deficiency provokes accelerated telomere shortening and dysfunction, facilitating genomic instability and oncogenesis...
2017: PloS One
https://www.readbyqxmd.com/read/28813463/genetic-diversity-of-bemisia-tabaci-species-colonizing-cassava-in-central-african-republic-characterized-by-analysis-of-cytochrome-c-oxidase-subunit-i
#10
Brice Kette Tocko-Marabena, Semballa Silla, Christophe Simiand, Innocent Zinga, James Legg, Bernard Reynaud, Helene Delatte
After 2007, upsurges of whiteflies on cassava plants and high incidences of cassava diseases were observed in Central African Republic. This recent upsurge in the abundance of Bemisia tabaci (Gennadius) (Hemiptera: Aleyrodidae) was directly linked to serious damage to cassava crops resulting from spread of whitefly-borne cassava mosaic geminiviruses (CMGs). There is currently very little information describing whitefly populations on cassava and associated crops in Central African Republic. The current study aimed to address this gap, and to determine whether the increasing damage associated with B...
2017: PloS One
https://www.readbyqxmd.com/read/28813461/epidemiology-of-clostridium-difficile-in-infants-in-oxfordshire-uk-risk-factors-for-colonization-and-carriage-and-genetic-overlap-with-regional-c-difficile-infection-strains
#11
Nicole Stoesser, David W Eyre, T Phuong Quan, Heather Godwin, Gemma Pill, Emily Mbuvi, Alison Vaughan, David Griffiths, Jessica Martin, Warren Fawley, Kate E Dingle, Sarah Oakley, Kazimierz Wanelik, John M Finney, Melina Kachrimanidou, Catrin E Moore, Sherwood Gorbach, Thomas V Riley, Derrick W Crook, Tim E A Peto, Mark H Wilcox, A Sarah Walker
BACKGROUND: Approximately 30-40% of children <1 year of age are Clostridium difficile colonized, and may represent a reservoir for adult C. difficile infections (CDI). Risk factors for colonization with toxigenic versus non-toxigenic C. difficile strains and longitudinal acquisition dynamics in infants remain incompletely characterized. METHODS: Predominantly healthy infants (≤2 years) were recruited in Oxfordshire, UK, and provided ≥1 fecal samples. Independent risk factors for toxigenic/non-toxigenic C...
2017: PloS One
https://www.readbyqxmd.com/read/28813432/basic-reversal-learning-capacity-in-flies-suggests-rudiments-of-complex-cognition
#12
Brad R Foley, Paul Marjoram, Sergey V Nuzhdin
The most basic models of learning are reinforcement learning models (for instance, classical and operant conditioning) that posit a constant learning rate; however many animals change their learning rates with experience. This process is sometimes studied by reversing an existing association between cues and rewards, and measuring the rate of relearning. Augmented reversal-learning, where learning rates increase with practice, can be an important component of behavioral flexibility; and may provide insight into higher cognition...
2017: PloS One
https://www.readbyqxmd.com/read/28813410/identification-of-cmtm6-and-cmtm4-as-pd-l1-protein-regulators
#13
Riccardo Mezzadra, Chong Sun, Lucas T Jae, Raquel Gomez-Eerland, Evert de Vries, Wei Wu, Meike E W Logtenberg, Maarten Slagter, Elisa A Rozeman, Ingrid Hofland, Annegien Broeks, Hugo M Horlings, Lodewyk F A Wessels, Christian U Blank, Yanling Xiao, Albert J R Heck, Jannie Borst, Thijn R Brummelkamp, Ton N M Schumacher
The clinical benefit for patients with diverse types of metastatic cancers that has been observed upon blockade of the interaction between PD-1 and PD-L1 has highlighted the importance of this inhibitory axis in the suppression of tumour-specific T-cell responses. Notwithstanding the key role of PD-L1 expression by cells within the tumour micro-environment, our understanding of the regulation of the PD-L1 protein is limited. Here we identify, using a haploid genetic screen, CMTM6, a type-3 transmembrane protein of previously unknown function, as a regulator of the PD-L1 protein...
August 16, 2017: Nature
https://www.readbyqxmd.com/read/28813349/advances-in-athlete-development-understanding-conditions-of-and-constraints-on-optimal-practice
#14
REVIEW
Joseph Baker, Bradley W Young, David Mann
The development of elite, high performance athletes reflects the complex interaction of biological and genetic factors with important environmental influences. Over the past two decades, discussions of athlete development have largely focused on the role of 'deliberate' practice, and more recently, researchers have begun exploring the means by which practice can be best used to maximize the rate of talent development across the different stages of athlete development. In this article, we summarize recent developments in understanding how athletes maximize practice including (a) antecedents of practice involvement, (b) environmental constraints of practice involvement, (c) the value of diversification for athlete development, (d) and methodological advancements in this area...
August 2017: Current Opinion in Psychology
https://www.readbyqxmd.com/read/28813320/the-genetics-and-epigenetics-of-ptsd-overview-recent-advances-and-future-directions
#15
REVIEW
Christina M Sheerin, Mackenzie J Lind, Kaitlin E Bountress, Nicole R Nugent, Ananda B Amstadter
This paper provides a brief summary and commentary on the growing literature and current developments related to the genetic underpinnings of posttraumatic stress disorder (PTSD). We first briefly provide an overview of the behavioral genetic literature on PTSD, followed by a short synopsis of the substantial candidate gene literature with a focus on genes that have been meta-analyzed. We then discuss the genome-wide association studies (GWAS) that have been conducted, followed by an introduction to other molecular platforms used in PTSD genomic studies, such as epigenetic and expression approaches...
April 2017: Current Opinion in Psychology
https://www.readbyqxmd.com/read/28813284/gene-environment-interplay-in-the-context-of-romantic-relationships
#16
REVIEW
Mark A Whisman, Susan C South
A growing body of research supports an important role for genetic factors on intimate, romantic relationships. In this article, we review research that has examined the interplay between genetic and environmental influences on romantic relationships and the associations between relationship outcomes and important individual differences related to relationships. We first elaborate on how behavioral genetic and molecular genetic methods can be used to understand the etiology of relationship outcomes. We then review empirical studies that have examined gene-environment correlations and gene-by-environment interactions in predicting romantic relationship outcomes (e...
February 2017: Current Opinion in Psychology
https://www.readbyqxmd.com/read/28812997/distribution-of-fmr1-and-fmr2-repeats-in-argentinean-patients-with-primary-ovarian-insufficiency
#17
Lucía Daniela Espeche, Violeta Chiauzzi, Ianina Ferder, Mehrnoosh Arrar, Andrea Paula Solari, Carlos David Bruque, Marisol Delea, Susana Belli, Cecilia Soledad Fernández, Noemí Delia Buzzalino, Eduardo Hernán Charreau, Liliana Beatriz Dain
The premutation state of FMR1 (Fragile X Mental Retardation 1) has been associated with primary ovarian insufficiency (POI), and is the most common known genetic cause for 46,XX patients. Nevertheless, very few studies have analyzed its frequency in Latin American populations. Additionally, a relationship between alleles carrying a cryptic microdeletion in the 5'UTR of FMR2 and the onset of POI has only been studied in one population. Our aim was to analyze the incidence of FMR1 premutations and putative microdeletions in exon 1 of FMR2 in a cohort of Argentinean women with POI...
August 16, 2017: Genes
https://www.readbyqxmd.com/read/28812990/human-leukocyte-antigen-c-12-02-02-and-killer-immunoglobulin-like-receptor-2dl5-are-distinctly-associated-with-ankylosing-spondylitis-in-the-taiwanese
#18
Chin-Man Wang, Sheng-Hung Wang, Yeong-Jian Jan Wu, Jing-Chi Lin, Jianming Wu, Ji-Yih Chen
Human leukocyte antigen (HLA) class I ligands and Killer immunoglobulin-like receptors (KIRs) regulate the cytolytic activity of natural killer (NK) cells and certain T cells. We examined their genetic predisposition to disease susceptibility and clinical phenotypes in Taiwanese ankylosing spondylitis (AS) patients. KIR genotyping and Human Leucocyte Antigen C (HLA-C) sequencing were performed in 653 Taiwanese AS patients and 952 healthy controls. KIR genotype distributions and HLA-C allele frequencies were compared in patients and controls and among patients with and without HLA-B27 positivity, early age onset and spinal syndesmophytes...
August 16, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28812937/genetic-and-molecular-characterization-of-leaf-rust-resistance-in-two-durum-wheat-landraces
#19
Naeela Qureshi, Harbans Bariana, James A Kolmer, Hanif Miah, Urmil Bansal
Leaf rust, caused by Puccinia triticina, is a constraint to durum wheat (Triticum turgidum subsp. durum) production, and landraces are reported to be an important source of resistance. Two Portuguese landraces (Aus26582 and Aus26579) showed resistance against durum-specific P. triticina races and were crossed with a susceptible landrace (Bansi) to develop recombinant inbred line (RIL) populations. Monogenic segregation for leaf rust resistance was observed among both RIL populations. The underlying locus, temporarily named LrAW2, was mapped to the short arm of chromosome 6B in the Aus26582/Bansi population and five DArTseq markers cosegregated with LrAW2...
August 16, 2017: Phytopathology
https://www.readbyqxmd.com/read/28812736/the-evolution-and-population-diversity-of-human-specific-segmental-duplications
#20
Megan Y Dennis, Lana Harshman, Bradley J Nelson, Osnat Penn, Stuart Cantsilieris, John Huddleston, Francesca Antonacci, Kelsi Penewit, Laura Denman, Archana Raja, Carl Baker, Kenneth Mark, Maika Malig, Nicolette Janke, Claudia Espinoza, Holly A F Stessman, Xander Nuttle, Kendra Hoekzema, Tina A Lindsay-Graves, Richard K Wilson, Evan E Eichler
Segmental duplications contribute to human evolution, adaptation and genomic instability but are often poorly characterized. We investigate the evolution, genetic variation and coding potential of human-specific segmental duplications (HSDs). We identify 218 HSDs based on analysis of 322 deeply sequenced archaic and contemporary hominid genomes. We sequence 550 human and nonhuman primate genomic clones to reconstruct the evolution of the largest, most complex regions with protein-coding potential (N = 80 genes from 33 gene families)...
February 17, 2017: Nature ecology & evolution
keyword
keyword
55178
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"