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https://www.readbyqxmd.com/read/28445004/cftr-dependent-chloride-efflux-in-cystic-fibrosis-mononuclear-cells-is-increased-by-ivacaftor-therapy
#1
Lorenzo Guerra, Susanna D'Oria, Maria Favia, Stefano Castellani, Teresa Santostasi, Angela M Polizzi, Maria A Mariggiò, Crescenzio Gallo, Valeria Casavola, Pasqualina Montemurro, Giuseppina Leonetti, Antonio Manca, Massimo Conese
AIM: The Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) potentiator ivacaftor (Kalydeco®) improves clinical outcome in G551D cystic fibrosis (CF) patients. Here, we have investigated whether ivacaftor has a clinical impact on non-G551D gating mutations and function of circulating leukocytes as well. METHODS: Seven patients were treated with ivacaftor and evaluated at baseline, and at 1-3 and 6 months. Besides clinical and systemic inflammatory parameters, circulating mononuclear cells (MNC) were evaluated for CFTR-dependent chloride efflux by spectrofluorimetry, neutrophils for oxidative burst by cytofluorimetry and HVCN1 mRNA expression by real time PCR...
April 26, 2017: Pediatric Pulmonology
https://www.readbyqxmd.com/read/28444047/health-regionalization-in-amazonas-progress-and-challenges
#2
Luiza Garnelo, Amandia Braga Lima Sousa, Clayton de Oliveira da Silva
This paper analyses the health services regionalization process in the State of Amazonas through a case study covering the health sub-region Manaus Surroundings. This is a qualitative, descriptive and analytical research, which data were collected using interviews, documents and Internet reviews, oriented by the guiding concept of health regionalization. Study findings revealed a social setting dominated by asymmetry, verticality, competitiveness and fragile multilateral relations among municipalities, associated to a bureaucratic profile of local institutions operating in the region under study...
April 2017: Ciência & Saúde Coletiva
https://www.readbyqxmd.com/read/28442938/environmental-arsenic-exposure-and-risk-of-diabetes-type-2-in-ron-phibun-subdistrict-nakhon-si-thammarat-province-thailand-unmatched-and-matched-case-control-studies
#3
Kwanyuen Sripaoraya, Wattasit Siriwong, Sumol Pavittranon, Robert S Chapman
BACKGROUND: There are inconsistent findings on associations between low-to-moderate level of arsenic in water and diabetes risk from previous epidemiological reports. In Ron Phibun subdistrict, Nakhon Si Thammarat Province, Thailand, a low level of arsenic exposure among population was observed and increased diabetes mellitus (DM) rate was identified. OBJECTIVES: We aimed to investigate the association between determinants (including low-level water arsenic exposure) of DM type 2 risk among residents of three villages of Ron Phibun subdistrict, Nakhon Si Thammarat Province...
2017: Risk Management and Healthcare Policy
https://www.readbyqxmd.com/read/28441434/testing-survey-based-methods-for-rapid-monitoring-of-child-mortality-with-implications-for-summary-birth-history-data
#4
Eoghan Brady, Kenneth Hill
INTRODUCTION: Under-five mortality estimates are increasingly used in low and middle income countries to target interventions and measure performance against global development goals. Two new methods to rapidly estimate under-5 mortality based on Summary Birth Histories (SBH) were described in a previous paper and tested with data available. This analysis tests the methods using data appropriate to each method from 5 countries that lack vital registration systems. SBH data are collected across many countries through censuses and surveys, and indirect methods often rely upon their quality to estimate mortality rates...
2017: PloS One
https://www.readbyqxmd.com/read/28440342/significant-variation-between-snp-based-hla-imputations-in-diverse-populations-the-last-mile-is-the-hardest
#5
D J Pappas, A Lizee, V Paunic, K R Beutner, A Motyer, D Vukcevic, S Leslie, J Biesiada, J Meller, K D Taylor, X Zheng, L P Zhao, P-A Gourraud, J A Hollenbach, S J Mack, M Maiers
Four single nucleotide polymorphism (SNP)-based human leukocyte antigen (HLA) imputation methods (e-HLA, HIBAG, HLA*IMP:02 and MAGPrediction) were trained using 1000 Genomes SNP and HLA genotypes and assessed for their ability to accurately impute molecular HLA-A, -B, -C and -DRB1 genotypes in the Human Genome Diversity Project cell panel. Imputation concordance was high (>89%) across all methods for both HLA-A and HLA-C, but HLA-B and HLA-DRB1 proved generally difficult to impute. Overall, <27.8% of subjects were correctly imputed for all HLA loci by any method...
April 25, 2017: Pharmacogenomics Journal
https://www.readbyqxmd.com/read/28439531/genome-and-cd4-t-cell-methylome-wide-association-study-of-circulating-trimethylamine-n-oxide-in-the-genetics-of-lipid-lowering-drugs-and-diet-network-goldn
#6
Stella Aslibekyan, Marguerite R Irvin, Bertha A Hidalgo, Rodney T Perry, Elias J Jeyarajah, Erwin Garcia, Irina Shalaurova, Paul N Hopkins, Michael A Province, Hemant K Tiwari, Jose M Ordovas, Devin M Absher, Donna K Arnett
BACKGROUND: Trimethylamine-N-oxide (TMAO), an atherogenic metabolite species, has emerged as a possible new risk factor for cardiovascular disease. Animal studies have shown that circulating TMAO levels are regulated by genetic and environmental factors. However, large-scale human studies have failed to replicate the observed genetic associations, and epigenetic factors such as DNA methylation have never been examined in relation to TMAO levels. METHODS AND RESULTS: We used data from the family-based Genetics of Lipid Lowering Drugs and Diet Network (GOLDN) to investigate the heritable determinants of plasma TMAO in humans...
June 2017: Journal of Nutrition & Intermediary Metabolism
https://www.readbyqxmd.com/read/28439147/a-semi-parametric-transformation-frailty-model-for-semi-competing-risks-survival-data
#7
Fei Jiang, Sebastien Haneuse
In the analysis of semi-competing risks data interest lies in estimation and inference with respect to a so-called non-terminal event, the observation of which is subject to a terminal event. Multi-state models are commonly used to analyse such data, with covariate effects on the transition/intensity functions typically specified via the Cox model and dependence between the non-terminal and terminal events specified, in part, by a unit-specific shared frailty term. To ensure identifiability, the frailties are typically assumed to arise from a parametric distribution, specifically a Gamma distribution with mean 1...
March 2017: Scandinavian Journal of Statistics, Theory and Applications
https://www.readbyqxmd.com/read/28436984/genomic-analyses-identify-hundreds-of-variants-associated-with-age-at-menarche-and-support-a-role-for-puberty-timing-in-cancer-risk
#8
Felix R Day, Deborah J Thompson, Hannes Helgason, Daniel I Chasman, Hilary Finucane, Patrick Sulem, Katherine S Ruth, Sean Whalen, Abhishek K Sarkar, Eva Albrecht, Elisabeth Altmaier, Marzyeh Amini, Caterina M Barbieri, Thibaud Boutin, Archie Campbell, Ellen Demerath, Ayush Giri, Chunyan He, Jouke J Hottenga, Robert Karlsson, Ivana Kolcic, Po-Ru Loh, Kathryn L Lunetta, Massimo Mangino, Brumat Marco, George McMahon, Sarah E Medland, Ilja M Nolte, Raymond Noordam, Teresa Nutile, Lavinia Paternoster, Natalia Perjakova, Eleonora Porcu, Lynda M Rose, Katharina E Schraut, Ayellet V Segrè, Albert V Smith, Lisette Stolk, Alexander Teumer, Irene L Andrulis, Stefania Bandinelli, Matthias W Beckmann, Javier Benitez, Sven Bergmann, Murielle Bochud, Eric Boerwinkle, Stig E Bojesen, Manjeet K Bolla, Judith S Brand, Hiltrud Brauch, Hermann Brenner, Linda Broer, Thomas Brüning, Julie E Buring, Harry Campbell, Eulalia Catamo, Stephen Chanock, Georgia Chenevix-Trench, Tanguy Corre, Fergus J Couch, Diana L Cousminer, Angela Cox, Laura Crisponi, Kamila Czene, George Davey Smith, Eco J C N de Geus, Renée de Mutsert, Immaculata De Vivo, Joe Dennis, Peter Devilee, Isabel Dos-Santos-Silva, Alison M Dunning, Johan G Eriksson, Peter A Fasching, Lindsay Fernández-Rhodes, Luigi Ferrucci, Dieter Flesch-Janys, Lude Franke, Marike Gabrielson, Ilaria Gandin, Graham G Giles, Harald Grallert, Daniel F Gudbjartsson, Pascal Guénel, Per Hall, Emily Hallberg, Ute Hamann, Tamara B Harris, Catharina A Hartman, Gerardo Heiss, Maartje J Hooning, John L Hopper, Frank Hu, David J Hunter, M Arfan Ikram, Hae Kyung Im, Marjo-Riitta Järvelin, Peter K Joshi, David Karasik, Manolis Kellis, Zoltan Kutalik, Genevieve LaChance, Diether Lambrechts, Claudia Langenberg, Lenore J Launer, Joop S E Laven, Stefania Lenarduzzi, Jingmei Li, Penelope A Lind, Sara Lindstrom, YongMei Liu, Jian'an Luan, Reedik Mägi, Arto Mannermaa, Hamdi Mbarek, Mark I McCarthy, Christa Meisinger, Thomas Meitinger, Cristina Menni, Andres Metspalu, Kyriaki Michailidou, Lili Milani, Roger L Milne, Grant W Montgomery, Anna M Mulligan, Mike A Nalls, Pau Navarro, Heli Nevanlinna, Dale R Nyholt, Albertine J Oldehinkel, Tracy A O'Mara, Sandosh Padmanabhan, Aarno Palotie, Nancy Pedersen, Annette Peters, Julian Peto, Paul D P Pharoah, Anneli Pouta, Paolo Radice, Iffat Rahman, Susan M Ring, Antonietta Robino, Frits R Rosendaal, Igor Rudan, Rico Rueedi, Daniela Ruggiero, Cinzia F Sala, Marjanka K Schmidt, Robert A Scott, Mitul Shah, Rossella Sorice, Melissa C Southey, Ulla Sovio, Meir Stampfer, Maristella Steri, Konstantin Strauch, Toshiko Tanaka, Emmi Tikkanen, Nicholas J Timpson, Michela Traglia, Thérèse Truong, Jonathan P Tyrer, André G Uitterlinden, Digna R Velez Edwards, Veronique Vitart, Uwe Völker, Peter Vollenweider, Qin Wang, Elisabeth Widen, Ko Willems van Dijk, Gonneke Willemsen, Robert Winqvist, Bruce H R Wolffenbuttel, Jing Hua Zhao, Magdalena Zoledziewska, Marek Zygmunt, Behrooz Z Alizadeh, Dorret I Boomsma, Marina Ciullo, Francesco Cucca, Tõnu Esko, Nora Franceschini, Christian Gieger, Vilmundur Gudnason, Caroline Hayward, Peter Kraft, Debbie A Lawlor, Patrik K E Magnusson, Nicholas G Martin, Dennis O Mook-Kanamori, Ellen A Nohr, Ozren Polasek, David Porteous, Alkes L Price, Paul M Ridker, Harold Snieder, Tim D Spector, Doris Stöckl, Daniela Toniolo, Sheila Ulivi, Jenny A Visser, Henry Völzke, Nicholas J Wareham, James F Wilson, Amanda B Spurdle, Unnur Thorsteindottir, Katherine S Pollard, Douglas F Easton, Joyce Y Tung, Jenny Chang-Claude, David Hinds, Anna Murray, Joanne M Murabito, Kari Stefansson, Ken K Ong, John R B Perry
The timing of puberty is a highly polygenic childhood trait that is epidemiologically associated with various adult diseases. Using 1000 Genomes Project-imputed genotype data in up to ∼370,000 women, we identify 389 independent signals (P < 5 × 10(-8)) for age at menarche, a milestone in female pubertal development. In Icelandic data, these signals explain ∼7.4% of the population variance in age at menarche, corresponding to ∼25% of the estimated heritability. We implicate ∼250 genes via coding variation or associated expression, demonstrating significant enrichment in neural tissues...
April 24, 2017: Nature Genetics
https://www.readbyqxmd.com/read/28436673/unique-rhizosphere-micro-characteristics-facilitate-phytoextraction-of-multiple-metals-in-soil-by-the-hyperaccumulating-plant-sedum-alfredii
#9
Dandi Hou, Kai Wang, Ting Liu, Haixin Wang, Zhi Lin, Jie Qian, Lingli Lu, Shengke Tian
Understanding the strategies that the roots of hyperaccumulating plants use to extract heavy metals from soils is important for optimizing phytoremediation. The rhizosphere characteristics of Sedum alfredii, a hyperaccumulator, were investigated 6 months after planting in weathered field soils contaminated with 5.8 μg·g-1 Cd, 1985.1 μg·g-1 Zn, 667.5 μg·g-1 Pb, and 698.8 μg·g-1 Cu. In contrast with the non-hyperaccumulating ecotype (NHE), the hyperaccumulating ecotype (HE) of S. alfredii was more tolerant to the metals and accumulated higher levels of Cd and Zn...
April 24, 2017: Environmental Science & Technology
https://www.readbyqxmd.com/read/28436052/clustering-multiply-imputed-multivariate-high-dimensional-longitudinal-profiles
#10
Liesbeth Bruckers, Geert Molenberghs, Paul Dendale
In this paper, we propose a method to cluster multivariate functional data with missing observations. Analysis of functional data often encompasses dimension reduction techniques such as principal component analysis (PCA). These techniques require complete data matrices. In this paper, the data are completed by means of multiple imputation, and subsequently each imputed data set is submitted to a cluster procedure. The final partition of the data, summarizing the partitions obtained for the imputed data sets, is obtained by means of ensemble clustering...
April 24, 2017: Biometrical Journal. Biometrische Zeitschrift
https://www.readbyqxmd.com/read/28433089/accuracy-of-achenbach-scales-in-the-screening-of-attention-deficit-hyperactivity-disorder-in-a-community-mental-health-clinic
#11
Joseph S Raiker, Andrew J Freeman, Guillermo Perez-Algorta, Thomas W Frazier, Robert L Findling, Eric A Youngstrom
OBJECTIVE: To use receiver-operating characteristics analysis to identify multilevel diagnostic likelihood ratios and provide a framework for the diagnosis of attention-deficit/hyperactivity disorder (ADHD) in children (5-10 years old) and adolescents (11-18 years old) in an outpatient setting. METHOD: Caregiver, teacher, and youth reports from the Achenbach System of Empirically Based Assessment (ASEBA) were obtained for 299 children and 321 adolescents with multiple imputation of missing data...
May 2017: Journal of the American Academy of Child and Adolescent Psychiatry
https://www.readbyqxmd.com/read/28431501/outcomes-after-early-and-delayed-rehabilitation-for-exacerbation-of-chronic-obstructive-pulmonary-disease-a-nationwide-retrospective-cohort-study-in-japan
#12
Hiroki Matsui, Taisuke Jo, Kiyohide Fushimi, Hideo Yasunaga
BACKGROUND: The effectiveness of early pulmonary rehabilitation (PR) for exacerbation of chronic obstructive pulmonary disease (COPD) remains controversial. The present study aimed to compare the outcomes between early and delayed PR for exacerbation of COPD, using a national inpatient database. METHODS: Using the Japanese Diagnosis Procedure Combination database, we examined patients who were transported to hospital for exacerbation of COPD, received PR during hospitalisation, and were discharged to their home...
April 21, 2017: Respiratory Research
https://www.readbyqxmd.com/read/28431087/a-method-for-learning-a-sparse-classifier-in-the-presence-of-missing-data-for-high-dimensional-biological-datasets
#13
Kristen Severson, Brinda Monian, J Christopher Love, Richard D Braatz
Motivation: This work addresses two common issues in building classification models for biological or medical studies: learning a sparse model, where only a subset of a large number of possible predictors is used, and training in the presence of missing data. This work focuses on supervised generative binary classification models, specifically linear discriminant analysis (LDA). The parameters are determined using an expectation maximization algorithm to both address missing data and introduce priors to promote sparsity...
April 18, 2017: Bioinformatics
https://www.readbyqxmd.com/read/28430825/discovery-and-fine-mapping-of-adiposity-loci-using-high-density-imputation-of-genome-wide-association-studies-in-individuals-of-african-ancestry-african-ancestry-anthropometry-genetics-consortium
#14
Maggie C Y Ng, Mariaelisa Graff, Yingchang Lu, Anne E Justice, Poorva Mudgal, Ching-Ti Liu, Kristin Young, Lisa R Yanek, Mary F Feitosa, Mary K Wojczynski, Kristin Rand, Jennifer A Brody, Brian E Cade, Latchezar Dimitrov, Qing Duan, Xiuqing Guo, Leslie A Lange, Michael A Nalls, Hayrettin Okut, Salman M Tajuddin, Bamidele O Tayo, Sailaja Vedantam, Jonathan P Bradfield, Guanjie Chen, Wei-Min Chen, Alessandra Chesi, Marguerite R Irvin, Badri Padhukasahasram, Jennifer A Smith, Wei Zheng, Matthew A Allison, Christine B Ambrosone, Elisa V Bandera, Traci M Bartz, Sonja I Berndt, Leslie Bernstein, William J Blot, Erwin P Bottinger, John Carpten, Stephen J Chanock, Yii-Der Ida Chen, David V Conti, Richard S Cooper, Myriam Fornage, Barry I Freedman, Melissa Garcia, Phyllis J Goodman, Yu-Han H Hsu, Jennifer Hu, Chad D Huff, Sue A Ingles, Esther M John, Rick Kittles, Eric Klein, Jin Li, Barbara McKnight, Uma Nayak, Barbara Nemesure, Adesola Ogunniyi, Andrew Olshan, Michael F Press, Rebecca Rohde, Benjamin A Rybicki, Babatunde Salako, Maureen Sanderson, Yaming Shao, David S Siscovick, Janet L Stanford, Victoria L Stevens, Alex Stram, Sara S Strom, Dhananjay Vaidya, John S Witte, Jie Yao, Xiaofeng Zhu, Regina G Ziegler, Alan B Zonderman, Adebowale Adeyemo, Stefan Ambs, Mary Cushman, Jessica D Faul, Hakon Hakonarson, Albert M Levin, Katherine L Nathanson, Erin B Ware, David R Weir, Wei Zhao, Degui Zhi, Donna K Arnett, Struan F A Grant, Sharon L R Kardia, Olufunmilayo I Oloapde, D C Rao, Charles N Rotimi, Michele M Sale, L Keoki Williams, Babette S Zemel, Diane M Becker, Ingrid B Borecki, Michele K Evans, Tamara B Harris, Joel N Hirschhorn, Yun Li, Sanjay R Patel, Bruce M Psaty, Jerome I Rotter, James G Wilson, Donald W Bowden, L Adrienne Cupples, Christopher A Haiman, Ruth J F Loos, Kari E North
Genome-wide association studies (GWAS) have identified >300 loci associated with measures of adiposity including body mass index (BMI) and waist-to-hip ratio (adjusted for BMI, WHRadjBMI), but few have been identified through screening of the African ancestry genomes. We performed large scale meta-analyses and replications in up to 52,895 individuals for BMI and up to 23,095 individuals for WHRadjBMI from the African Ancestry Anthropometry Genetics Consortium (AAAGC) using 1000 Genomes phase 1 imputed GWAS to improve coverage of both common and low frequency variants in the low linkage disequilibrium African ancestry genomes...
April 21, 2017: PLoS Genetics
https://www.readbyqxmd.com/read/28429786/comprehensive-assessment-showed-no-associations-of-variants-at-the-slc10a1-locus-with-susceptibility-to-persistent-hbv-infection-among-southern-chinese
#15
Ying Zhang, Yuanfeng Li, Miantao Wu, Pengbo Cao, Xiaomin Liu, Qian Ren, Yun Zhai, Bobo Xie, Yanling Hu, Zhibin Hu, Jinxin Bei, Jie Ping, Xinyi Liu, Yinghua Yu, Bingqian Guo, Hui Lu, Guanjun Liu, Haitao Zhang, Ying Cui, Zengnan Mo, Hongbing Shen, Yi-Xin Zeng, Fuchu He, Hongxing Zhang, Gangqiao Zhou
The sodium taurocholate cotransporting polypeptide (NTCP) encoded by SLC10A1 was recently demonstrated to be a functional receptor for hepatitis B virus (HBV). The role of SLC10A1 polymorphisms, particularly the Ser267Phe variant (rs2296651) in exon 4, has been frequently investigated in regard to risk of persistent HBV infection. However, these investigations have generated conflicting results. To examine whether common genetic variation at the SLC10A1 locus is associated with risk of persistent HBV infection, haplotype-tagging and imputed single nucleotide polymorphisms (SNPs) were assessed in two case-control sample sets, totally including 2,550 cases (persistently HBV infected subjects, PIs) and 2,124 controls (spontaneously recovered subjects, SRs) of Southern Chinese ancestry...
April 21, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28428869/rapid-maximum-likelihood-ancestral-state-reconstruction-of-continuous-characters-a-rerooting-free-algorithm
#16
Eric W Goolsby
Ancestral state reconstruction is a method used to study the evolutionary trajectories of quantitative characters on phylogenies. Although efficient methods for univariate ancestral state reconstruction under a Brownian motion model have been described for at least 25 years, to date no generalization has been described to allow more complex evolutionary models, such as multivariate trait evolution, non-Brownian models, missing data, and within-species variation. Furthermore, even for simple univariate Brownian motion models, most phylogenetic comparative R packages compute ancestral states via inefficient tree rerooting and full tree traversals at each tree node, making ancestral state reconstruction extremely time-consuming for large phylogenies...
April 2017: Ecology and Evolution
https://www.readbyqxmd.com/read/28427324/genomic-prediction-from-observed-and-imputed-high-density-ovine-genotypes
#17
Nasir Moghaddar, Andrew A Swan, Julius H J van der Werf
BACKGROUND: Genomic prediction using high-density (HD) marker genotypes is expected to lead to higher prediction accuracy, particularly for more heterogeneous multi-breed and crossbred populations such as those in sheep and beef cattle, due to providing stronger linkage disequilibrium between single nucleotide polymorphisms and quantitative trait loci controlling a trait. The objective of this study was to evaluate a possible improvement in genomic prediction accuracy of production traits in Australian sheep breeds based on HD genotypes (600k, both observed and imputed) compared to prediction based on 50k marker genotypes...
April 20, 2017: Genetics, Selection, Evolution: GSE
https://www.readbyqxmd.com/read/28426258/improvements-in-out-of-hospital-cardiac-arrest-survival-from-1998-to-2013
#18
Yutaka Yamaguchi, Jeff A Woodin, Koichiro Gibo, Dana M Zive, Mohamud R Daya
OBJECTIVES: Out-of-hospital cardiac arrest (OHCA) remains a major public health burden. Aggregate OHCA survival to hospital discharge has reportedly remained unchanged at 7.6% for almost 30 years from 1970 to 2008. We examined the trends in adult OHCA survival over a 16-year period from 1998 to 2013 within a single EMS agency. METHODS: Observational cohort study of adult OHCA patients treated by Tualatin Valley Fire & Rescue (TVF&R) from 1998 to 2013. This is an ALS first response fire agency that maintains an active Utstein style cardiac arrest registry and serves a population of approximately 450,000 in 9 incorporated cities in Oregon...
April 20, 2017: Prehospital Emergency Care
https://www.readbyqxmd.com/read/28425202/examining-solutions-to-missing-data-in-longitudinal-nursing-research
#19
Mary B Roberts, Mary C Sullivan, Suzy B Winchester
PURPOSE: Longitudinal studies are highly valuable in pediatrics because they provide useful data about developmental patterns of child health and behavior over time. When data are missing, the value of the research is impacted. The study's purpose was to (1) introduce a three-step approach to assess and address missing data and (2) illustrate this approach using categorical and continuous-level variables from a longitudinal study of premature infants. METHODS: A three-step approach with simulations was followed to assess the amount and pattern of missing data and to determine the most appropriate imputation method for the missing data...
April 2017: Journal for Specialists in Pediatric Nursing: JSPN
https://www.readbyqxmd.com/read/28424481/the-first-genome-wide-association-study-identifying-new-susceptibility-loci-for-obstetric-antiphospholipid-syndrome
#20
Mayumi Sugiura-Ogasawara, Yosuke Omae, Minae Kawashima, Licht Toyo-Oka, Seik-Soon Khor, Hiromi Sawai, Tetsuya Horita, Tatsuya Atsumi, Atsuko Murashima, Daisuke Fujita, Tomio Fujita, Shinji Morimoto, Eriko Morishita, Shinji Katsuragi, Tamao Kitaori, Kinue Katano, Yasuhiko Ozaki, Katsushi Tokunaga
Antiphospholipid syndrome (APS) is the most important treatable cause of recurrent pregnancy loss. The live birth rate is limited to only 70-80% in patients with APS undergoing established anticoagulant therapy. Lupus anticoagulant (LA), but not anticardiolipin antibody (aCL), was found to predict adverse pregnancy outcome. Recent genome-wide association studies (GWAS) of APS focusing on aCL have shown that several molecules may be involved. This is the first GWAS for obstetric APS focusing on LA. A GWAS was performed to compare 115 Japanese patients with obstetric APS, diagnosed according to criteria of the International Congress on APS, and 419 healthy individuals...
April 20, 2017: Journal of Human Genetics
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