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https://www.readbyqxmd.com/read/29138037/genetic-predisposition-to-preeclampsia-is-conferred-by-fetal-dna-variants-near-flt1-a-gene-involved-in-the-regulation-of-angiogenesis
#1
Kathryn J Gray, Richa Saxena, S Ananth Karumanchi
Preeclampsia risk is influenced by both the mother's genetic background, as well as the genetics of her fetus; however, the specific genes responsible for conferring preeclampsia risk have largely remained elusive. Evidence that preeclampsia has a genetic predisposition was first detailed in the early 1960's, and overall preeclampsia heritability is estimated at ∼55%. Many traditional gene discovery approaches have been employed to investigate the specific genes that contribute to preeclampsia risk, but these have largely not been successful or reproducible...
November 11, 2017: American Journal of Obstetrics and Gynecology
https://www.readbyqxmd.com/read/29136295/genome-wide-association-study-identifies-galc-as-susceptibility-gene-for-mucous-membrane-pemphigoid
#2
C D Sadik, J Bischof, N van Beek, A Dieterich, S Benoit, M Sárdy, M Worm, S Meller, R Gläser, D Zillikens, B Homey, J Setterfield, D Minassian, E Schmidt, J Dart, S M Ibrahim
BACKGROUND: Mucous membrane pemphigoid (MMP) is a rare, chronic, and often aggressive subepidermal autoimmune blistering disease potentially affecting several mucous membranes with blisters and secondary erosions and scars. The pathogenesis of MMP is poorly understood, and the contribution of genetic predispositions, other than HLA class II allele variants to MMP, is unknown. OBJECTIVES: The objective of this study is to identify susceptibility genes for MMP in a British cohort of MMP patients...
November 14, 2017: Experimental Dermatology
https://www.readbyqxmd.com/read/29136250/genetic-overlap-between-schizophrenia-and-volumes-of-hippocampus-putamen-and-intracranial-volume-indicates-shared-molecular-genetic-mechanisms
#3
Olav B Smeland, Yunpeng Wang, Oleksandr Frei, Wen Li, Derrek P Hibar, Barbara Franke, Francesco Bettella, Aree Witoelar, Srdjan Djurovic, Chi-Hua Chen, Paul M Thompson, Anders M Dale, Ole A Andreassen
Schizophrenia (SCZ) is associated with differences in subcortical brain volumes and intracranial volume (ICV). However, little is known about the underlying etiology of these brain alterations. Here, we explored whether brain structure volumes and SCZ share genetic risk factors. Using conditional false discovery rate (FDR) analysis, we integrated genome-wide association study (GWAS) data on SCZ (n = 82315) and GWAS data on 7 subcortical brain volumes and ICV (n = 11840). By conditioning the FDR on overlapping associations, this statistical approach increases power to discover genetic loci...
November 9, 2017: Schizophrenia Bulletin
https://www.readbyqxmd.com/read/29134786/investigation-of-dominant-and-recessive-inheritance-models-in-gwas-data-of-nonsyndromic-cleft-lip-with-or-without-cleft-palate
#4
Anne C Böhmer, Lina Gölz, Thomas Kreusch, Franz-Josef Kramer, Bernd Pötzsch, Markus M Nöthen, Andreas Jäger, Elisabeth Mangold, Michael Knapp, Kerstin U Ludwig
Nonsyndromic cleft lip with or without cleft palate (nsCL/P) is one of the most common congenital malformation worldwide, and its etiology involves both genetic and environmental factors. Recent genome-wide and targeted genetic studies of nsCL/P have identified numerous genetic risk loci, under the hypothesis of a multiplicative mode of inheritance. The present study investigated whether novel nsCL/P risk loci could be identified by analyzing dominant/recessive genetic effects in single nucleotide polymorphism (SNP) data from genome-wide association studies...
November 14, 2017: Birth defects research
https://www.readbyqxmd.com/read/29133956/network-inference-from-glycoproteomics-data-reveals-new-reactions-in-the-igg-glycosylation-pathway
#5
Elisa Benedetti, Maja Pučić-Baković, Toma Keser, Annika Wahl, Antti Hassinen, Jeong-Yeh Yang, Lin Liu, Irena Trbojević-Akmačić, Genadij Razdorov, Jerko Štambuk, Lucija Klarić, Ivo Ugrina, Maurice H J Selman, Manfred Wuhrer, Igor Rudan, Ozren Polasek, Caroline Hayward, Harald Grallert, Konstantin Strauch, Annette Peters, Thomas Meitinger, Christian Gieger, Marija Vilaj, Geert-Jan Boons, Kelley W Moremen, Tatiana Ovchinnikova, Nicolai Bovin, Sakari Kellokumpu, Fabian J Theis, Gordan Lauc, Jan Krumsiek
Immunoglobulin G (IgG) is a major effector molecule of the human immune response, and aberrations in IgG glycosylation are linked to various diseases. However, the molecular mechanisms underlying protein glycosylation are still poorly understood. We present a data-driven approach to infer reactions in the IgG glycosylation pathway using large-scale mass-spectrometry measurements. Gaussian graphical models are used to construct association networks from four cohorts. We find that glycan pairs with high partial correlations represent enzymatic reactions in the known glycosylation pathway, and then predict new biochemical reactions using a rule-based approach...
November 14, 2017: Nature Communications
https://www.readbyqxmd.com/read/29133146/association-of-genetic-polymorphisms-with-erythrocyte-traits-verification-of-snps-reported-in-a-previous-gwas-in-a-japanese-population
#6
Toshio Seiki, Mariko Naito, Asahi Hishida, Sahoko Takagi, Takashi Matsunaga, Tae Sasakabe, Yuta Hattori, Sayo Kawai, Rieko Okada, Guang Yin, Nobuyuki Hamajima, Kenji Wakai
Erythrocyte count and volume are the commonly used hematological indices for anemia that change in various diseases. To date, however, only one study ever exists that addressed erythrocyte trait-associated single nucleotide polymorphisms (SNPs) in a Japanese population. Because that study was performed in patients with various diseases, we confirmed the reported associations in a general population. Participants in the current study were from the Shizuoka component of the Japan Multi-Institutional Collaborative Cohort Study, which included 4971 men and women aged 35 to 69years who were recruited between 2006 and 2007...
November 10, 2017: Gene
https://www.readbyqxmd.com/read/29133029/host-genetics-and-dengue-fever
#7
REVIEW
Caroline Xavier de Carvalho, Cynthia Chester Cardoso, Fernanda de Souza Gomes Kehdy, Antonio Guilherme Pacheco, Milton Ozório Moraes
Dengue is a major worldwide problem in tropical and subtropical areas; it is caused by four different viral serotypes, and it can manifest as asymptomatic, mild, or severe. Many factors interact to determine the severity of the disease, including the genetic profile of the infected patient. However, the mechanisms that lead to severe disease and eventually death have not been determined, and a great challenge is the early identification of patients who are more likely to progress to a worse health condition...
November 10, 2017: Infection, Genetics and Evolution
https://www.readbyqxmd.com/read/29132308/effect-of-two-non-synonymous-ecto-5-nucleotidase-variants-on-the-genetic-architecture-of-inosine-5-monophosphate-imp-and-its-degradation-products-in-japanese-black-beef
#8
Yoshinobu Uemoto, Tsuyoshi Ohtake, Nanae Sasago, Masayuki Takeda, Tsuyoshi Abe, Hironori Sakuma, Takatoshi Kojima, Shinji Sasaki
BACKGROUND: Umami is a Japanese term for the fifth basic taste and is an important sensory property of beef palatability. Inosine 5'-monophosphate (IMP) contributes to umami taste in beef. Thus, the overall change in concentration of IMP and its degradation products can potentially affect the beef palatability. In this study, we investigated the genetic architecture of IMP and its degradation products in Japanese Black beef. First, we performed genome-wide association study (GWAS), candidate gene analysis, and functional analysis to detect the causal variants that affect IMP, inosine, and hypoxanthine...
November 13, 2017: BMC Genomics
https://www.readbyqxmd.com/read/29130521/a-variant-in-ppp4r3a-protects-against-alzheimer-related-metabolic-decline
#9
Leigh Christopher, Valerio Napolioni, Raiyan R Khan, Summer S Han, Michael D Greicius
OBJECTIVES: A reduction in glucose metabolism in the posterior cingulate cortex (PCC) predicts conversion to Alzheimer's disease (AD) and tracks disease progression, signifying its importance in AD. We aimed to use decline in PCC glucose metabolism as a proxy for the development and progression of AD to discover common genetic variants associated with disease vulnerability. METHODS: We performed a genome-wide association study (GWAS) of decline in PCC [(18) F] FDG PET measured in Alzheimer's Disease Neuroimaging Initiative (ADNI) participants (n=606)...
November 11, 2017: Annals of Neurology
https://www.readbyqxmd.com/read/29129848/significance-of-functional-disease-causal-susceptible-variants-identified-by-whole-genome-analyses-for-the-understanding-of-human-diseases
#10
Yuki Hitomi, Katsushi Tokunaga
Human genome variation may cause differences in traits and disease risks. Disease-causal/susceptible genes and variants for both common and rare diseases can be detected by comprehensive whole-genome analyses, such as whole-genome sequencing (WGS), using next-generation sequencing (NGS) technology and genome-wide association studies (GWAS). Here, in addition to the application of an NGS as a whole-genome analysis method, we summarize approaches for the identification of functional disease-causal/susceptible variants from abundant genetic variants in the human genome and methods for evaluating their functional effects in human diseases, using an NGS and in silico and in vitro functional analyses...
2017: Proceedings of the Japan Academy. Series B, Physical and Biological Sciences
https://www.readbyqxmd.com/read/29128211/genome-wide-association-studies-to-identify-quantitative-trait-loci-affecting-milk-production-traits-in-water-buffalo
#11
J J Liu, A X Liang, G Campanile, G Plastow, C Zhang, Z Wang, A Salzano, B Gasparrini, M Cassandro, L G Yang
Water buffalo is the second largest resource of milk supply around the world, and it is well known for its distinctive milk quality in terms of fat, protein, lactose, vitamin, and mineral contents. Understanding the genetic architecture of milk production traits is important for future improvement by the buffalo breeding industry. The advance of genome-wide association studies (GWAS) provides an opportunity to identify potential genetic variants affecting important economical traits. In the present study, GWAS was performed for 489 buffaloes with 1,424 lactation records using the 90K Affymetrix Buffalo SNP Array (Affymetrix/Thermo Fisher Scientific, Santa Clara, CA)...
November 8, 2017: Journal of Dairy Science
https://www.readbyqxmd.com/read/29127305/cis-snps-set-testing-and-predixcan-analysis-for-gene-expression-data-using-linear-mixed-models
#12
Ping Zeng, Ting Wang, Shuiping Huang
Understanding the functional mechanism of SNPs identified in GWAS on complex diseases is currently a challenging task. The studies of expression quantitative trait loci (eQTL) have shown that regulatory variants play a crucial role in the function of associated SNPs. Detecting significant genes (called eGenes) in eQTL studies and analyzing the effect sizes of cis-SNPs can offer important implications on the genetic architecture of associated SNPs and interpretations of the molecular basis of diseases. We applied linear mixed models (LMM) to the gene expression level and constructed likelihood ratio tests (LRT) to test for eGene in the Geuvadis data...
November 10, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29127183/genome-wide-association-study-of-pr-interval-in-hispanics-latinos-identifies-novel-locus-at-id2
#13
Amanda A Seyerle, Henry J Lin, Stephanie M Gogarten, Adrienne Stilp, Raul Méndez Giráldez, Elsayed Soliman, Antoine Baldassari, Mariaelisa Graff, Susan Heckbert, Kathleen F Kerr, Charles Kooperberg, Carlos Rodriguez, Xiuqing Guo, Jie Yao, Nona Sotoodehnia, Kent D Taylor, Eric A Whitsel, Jerome I Rotter, Cathy C Laurie, Christy Avery
OBJECTIVE: PR interval (PR) is a heritable electrocardiographic measure of atrial and atrioventricular nodal conduction. Changes in PR duration may be associated with atrial fibrillation, heart failure and all-cause mortality. Hispanic/Latino populations have high burdens of cardiovascular morbidity and mortality, are highly admixed and represent exceptional opportunities for novel locus identification. However, they remain chronically understudied. We present the first genome-wide association study (GWAS) of PR in 14 756 participants of Hispanic/Latino ancestry from three studies...
November 10, 2017: Heart: Official Journal of the British Cardiac Society
https://www.readbyqxmd.com/read/29123153/a-genome-wide-association-study-links-small-vessel-ischemic-stroke-to-autophagy
#14
Tsong-Hai Lee, Tai-Ming Ko, Chien-Hsiun Chen, Yeu-Jhy Chang, Liang-Suei Lu, Chien-Hung Chang, Kuo-Lun Huang, Ting-Yu Chang, Jiann-Der Lee, Ku-Chou Chang, Jen-Tsung Yang, Ming-Shien Wen, Chao-Yung Wang, Ying-Ting Chen, Tsai-Chuan Chen, Shu-Yu Chou, Ming-Ta Michael Lee, Yuan-Tsong Chen, Jer-Yuarn Wu
Genome-wide association studies (GWAS) can serve as strong evidence in correlating biological pathways with human diseases. Although ischemic stroke has been found to be associated with many biological pathways, the genetic mechanism of ischemic stroke is still unclear. Here, we performed GWAS for a major subtype of stroke-small-vessel occlusion (SVO)-to identify potential genetic factors contributing to ischemic stroke. GWAS were conducted on 342 individuals with SVO stroke and 1,731 controls from a Han Chinese population residing in Taiwan...
November 9, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29121268/association-of-polygenic-score-for-schizophrenia-and-hla-antigen-and-inflammation-genes-with-response-to-lithium-in-bipolar-affective-disorder-a-genome-wide-association-study
#15
Azmeraw T Amare, Klaus Oliver Schubert, Liping Hou, Scott R Clark, Sergi Papiol, Urs Heilbronner, Franziska Degenhardt, Fasil Tekola-Ayele, Yi-Hsiang Hsu, Tatyana Shekhtman, Mazda Adli, Nirmala Akula, Kazufumi Akiyama, Raffaella Ardau, Bárbara Arias, Jean-Michel Aubry, Lena Backlund, Abesh Kumar Bhattacharjee, Frank Bellivier, Antonio Benabarre, Susanne Bengesser, Joanna M Biernacka, Armin Birner, Clara Brichant-Petitjean, Pablo Cervantes, Hsi-Chung Chen, Caterina Chillotti, Sven Cichon, Cristiana Cruceanu, Piotr M Czerski, Nina Dalkner, Alexandre Dayer, Maria Del Zompo, J Raymond DePaulo, Bruno Étain, Peter Falkai, Andreas J Forstner, Louise Frisen, Mark A Frye, Janice M Fullerton, Sébastien Gard, Julie S Garnham, Fernando S Goes, Maria Grigoroiu-Serbanescu, Paul Grof, Ryota Hashimoto, Joanna Hauser, Stefan Herms, Per Hoffmann, Andrea Hofmann, Stephane Jamain, Esther Jiménez, Jean-Pierre Kahn, Layla Kassem, Po-Hsiu Kuo, Tadafumi Kato, John Kelsoe, Sarah Kittel-Schneider, Sebastian Kliwicki, Barbara König, Ichiro Kusumi, Gonzalo Laje, Mikael Landén, Catharina Lavebratt, Marion Leboyer, Susan G Leckband, Alfonso Tortorella, Mirko Manchia, Lina Martinsson, Michael J McCarthy, Susan McElroy, Francesc Colom, Marina Mitjans, Francis M Mondimore, Palmiero Monteleone, Caroline M Nievergelt, Markus M Nöthen, Tomas Novák, Claire O'Donovan, Norio Ozaki, Urban Ösby, Andrea Pfennig, James B Potash, Andreas Reif, Eva Reininghaus, Guy A Rouleau, Janusz K Rybakowski, Martin Schalling, Peter R Schofield, Barbara W Schweizer, Giovanni Severino, Paul D Shilling, Katzutaka Shimoda, Christian Simhandl, Claire M Slaney, Alessio Squassina, Thomas Stamm, Pavla Stopkova, Mario Maj, Gustavo Turecki, Eduard Vieta, Julia Volkert, Stephanie Witt, Adam Wright, Peter P Zandi, Philip B Mitchell, Michael Bauer, Martin Alda, Marcella Rietschel, Francis J McMahon, Thomas G Schulze, Bernhard T Baune
Importance: Lithium is a first-line mood stabilizer for the treatment of bipolar affective disorder (BPAD). However, the efficacy of lithium varies widely, with a nonresponse rate of up to 30%. Biological response markers are lacking. Genetic factors are thought to mediate treatment response to lithium, and there is a previously reported genetic overlap between BPAD and schizophrenia (SCZ). Objectives: To test whether a polygenic score for SCZ is associated with treatment response to lithium in BPAD and to explore the potential molecular underpinnings of this association...
November 9, 2017: JAMA Psychiatry
https://www.readbyqxmd.com/read/29121253/the-role-of-nrg1-in-the-predisposition-to-papillary-thyroid-carcinoma
#16
Huiling He, Wei Li, Sandya Liyanarachchi, Yanqiang Wang, Lianbo Yu, Luke K Genutis, Sophia Maharry, John E Phay, Rulong Shen, Pamela Brock, Albert de la Chapelle
Context: Previous genome-wide association studies (GWAS) have shown that SNP rs2439302 in chromosome 8p12 is significantly associated with papillary thyroid carcinoma (PTC) risk and dysregulated NRG1 expression. The underlying mechanisms remain to be discovered. Objective: To evaluate the expression of NRG1 isoforms, candidate functional variants, and potential genes downstream of NRG1 in thyroid tissue. Methods: Quantitative RT-PCR was applied for gene expression analysis...
November 7, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/29121111/genetic-and-physical-mapping-of-anther-extrusion-in-elite-european-winter-wheat
#17
Quddoos H Muqaddasi, Klaus Pillen, Jörg Plieske, Martin W Ganal, Marion S Röder
The production and cultivation of hybrid wheat is a possible strategy to close the yield gap in wheat. Efficient hybrid wheat seed production largely depends on high rates of cross-pollination which can be ensured through high anther extrusion (AE) by male parental lines. Here, we report the AE capacity and elucidate its genetics in 514 elite European winter wheat varieties via genome-wide association studies (GWAS). We observed a wide range of variation among genotypes and a high heritability (0.80) for AE...
2017: PloS One
https://www.readbyqxmd.com/read/29120849/genetic-analysis-of-impulsive-personality-traits-examination-of-a-priori-candidates-and-genome-wide-variation
#18
Joshua C Gray, James MacKillop, Jessica Weafer, Kyle M Hernandez, Jianjun Gao, Abraham A Palmer, Harriet de Wit
Impulsive personality traits are heritable risk factors and putative endophenotypes for addiction and other psychiatric disorders involving disinhibition. This study examined the genetic basis of impulsive personality traits, defined as scores on the Barratt Impulsiveness Scale (BIS-11) and the UPPS-P Impulsive Behavior Scale (UPPS-P). In 983 healthy young adults of European ancestry, the study examined genetic variation in relation to a combined phenotype of seven subscales based on high phenotypic intercorrelations...
November 8, 2017: Psychiatry Research
https://www.readbyqxmd.com/read/29118371/genetic-association-analysis-of-microrna137-and-its-target-complex-1-with-schizophrenia-in-han-chinese
#19
Weihong Lu, Yi Zhang, Xinyu Fang, Weixing Fan, Wei Tang, Jun Cai, Lisheng Song, Chen Zhang
Recent genome-wide association studies (GWAS) have identified a strong association signal of microRNA137 host gene (MIR137) with schizophrenia. MIR137 dysfunction results in downregulation of presynaptic target gene complexin 1 (CPLX1) and impairs synaptic plasticity in the hippocampus. In this study, we aimed to investigate whether the variants of MIR137 and CPLX1 confer susceptibility to schizophrenia in Han Chinese. This study employed 736 patients with schizophrenia patients and 751 well-matched healthy subjects for genetic analysis, and genotyped 12 SNPs within MIR137 and CPLX1...
November 8, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29115939/genome-wide-association-studies-and-genomic-prediction-of-breeding-values-for-calving-performance-and-body-conformation-traits-in-holstein-cattle
#20
Mohammed K Abo-Ismail, Luiz F Brito, Stephen P Miller, Mehdi Sargolzaei, Daniela A Grossi, Steve S Moore, Graham Plastow, Paul Stothard, Shadi Nayeri, Flavio S Schenkel
BACKGROUND: Our aim was to identify genomic regions via genome-wide association studies (GWAS) to improve the predictability of genetic merit in Holsteins for 10 calving and 28 body conformation traits. Animals were genotyped using the Illumina Bovine 50 K BeadChip and imputed to the Illumina BovineHD BeadChip (HD). GWAS were performed on 601,717 real and imputed single nucleotide polymorphism (SNP) genotypes using a single-SNP mixed linear model on 4841 Holstein bulls with breeding value predictions and followed by gene identification and in silico functional analyses...
November 7, 2017: Genetics, Selection, Evolution: GSE
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