Cargando…

The ATXN2-SH2B3 locus is associated with peripheral arterial disease: an electronic medical record-based genome-wide association study

Objectives: In contrast to coronary heart disease (CHD), genetic variants that influence susceptibility to peripheral arterial disease (PAD) remain largely unknown. Background: We performed a two-stage genomic association study leveraging an electronic medical record (EMR) linked-biorepository to id...

Descripción completa

Detalles Bibliográficos
Autores principales:	Kullo, Iftikhar J., Shameer, Khader, Jouni, Hayan, Lesnick, Timothy G., Pathak, Jyotishman, Chute, Christopher G., de Andrade, Mariza
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2014
Materias:	Genetics
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4070196/ https://www.ncbi.nlm.nih.gov/pubmed/25009551 http://dx.doi.org/10.3389/fgene.2014.00166

Ejemplares similares

Clinical Correlates of Autosomal Chromosomal Abnormalities in an Electronic Medical Record–Linked Genome-Wide Association Study: A Case Series
por: Jouni, Hayan, et al.
Publicado: (2013)

A Genome-Wide Association Study of Red Blood Cell Traits Using the Electronic Medical Record
por: Kullo, Iftikhar J., et al.
Publicado: (2010)

Thrombotic Antiphospholipid Syndrome Shows Strong Haplotypic Association with SH2B3-ATXN2 Locus
por: Ochoa, Eguzkine, et al.
Publicado: (2013)

Electronic health record access by patients as an indicator of information seeking and sharing for cardiovascular health promotion in social networks: Secondary analysis of a randomized clinical trial
por: Brown, Sherry-Ann N., et al.
Publicado: (2019)

Using Association Rule Mining for Phenotype Extraction from Electronic Health Records
por: Li, Dingcheng, et al.
Publicado: ( 201)

Using Linked Data for Mining Drug-Drug Interactions in Electronic Health Records
por: Pathak, Jyotishman, et al.
Publicado: (2013)

ATXN2 and Its Neighbouring Gene SH2B3 Are Associated with Increased ALS Risk in the Turkish Population
por: Lahut, Suna, et al.
Publicado: (2012)

Using Semantic Web Technologies for Cohort Identification from Electronic Health Records for Clinical Research
por: Pathak, Jyotishman, et al.
Publicado: (2012)

Genetic Variants That Confer Resistance to Malaria Are Associated with Red Blood Cell Traits in African-Americans: An Electronic Medical Record-based Genome-Wide Association Study
por: Ding, Keyue, et al.
Publicado: (2013)

Repeats expansions in ATXN2, NOP56, NIPA1 and ATXN1 are not associated with ALS in Africans
por: Nel, Melissa, et al.
Publicado: (2021)

Applying semantic web technologies for phenome-wide scan using an electronic health record linked Biobank
por: Pathak, Jyotishman, et al.
Publicado: (2012)

Analysis of (CAG)(n) expansion in ATXN1, ATXN2 and ATXN3 in Chinese patients with multiple system atrophy
por: Zhou, X., et al.
Publicado: (2018)

Gene expression profiling of peripheral blood mononuclear cells in the setting of peripheral arterial disease
por: Masud, Rizwan, et al.
Publicado: (2012)

Design of a randomized controlled trial of disclosing genomic risk of coronary heart disease: the Myocardial Infarction Genes (MI-GENES) study
por: Kullo, Iftikhar J., et al.
Publicado: (2015)

A model for the dynamics of expanded CAG repeat alleles: ATXN2 and ATXN3 as prototypes
por: Sena, Lucas Schenatto, et al.
Publicado: (2023)

Detecting Associations between Major Depressive Disorder Treatment and Essential Hypertension using Electronic Health Records
por: Pathak, Jyotishman, et al.
Publicado: (2014)

Mining Genotype-Phenotype Associations from Public Knowledge Sources via Semantic Web Querying
por: Kiefer, Richard C., et al.
Publicado: ( 201)

Co‐occurrence of ATXN3 and ATXN2 repeat expansions in Chinese ataxia patients with slow saccades
por: Wu, Chao, et al.
Publicado: (2019)

The complex structure of ATXN2 genetic variation
por: Pulst, Stefan M.
Publicado: (2018)

ATXN2 a culprit with multiple facets
por: Nkiliza, Aurore, et al.
Publicado: (2017)

PolyQ Repeat Expansions in ATXN2 Associated with ALS Are CAA Interrupted Repeats
por: Yu, Zhenming, et al.
Publicado: (2011)

New alternative splicing variants of the ATXN2 transcript
por: Lastres-Becker, Isabel, et al.
Publicado: (2019)

Developing a modular architecture for creation of rule-based clinical diagnostic criteria
por: Hong, Na, et al.
Publicado: (2016)

Parkinson’s disease associated with pure ATXN10 repeat expansion
por: Schüle, Birgitt, et al.
Publicado: (2017)

Using Clinical Element Models for Pharmacogenomic Study Data Standardization
por: Zhu, Qian, et al.
Publicado: ( 201)

Simplifying Complex Clinical Element Models to Encourage Adoption
por: Freimuth, Robert R., et al.
Publicado: (2014)

PharmGKB Drug Data Normalization with NDF-RT
por: Zhu, Qian, et al.
Publicado: (2013)

ATXN2 trinucleotide repeat length correlates with risk of ALS
por: Sproviero, William, et al.
Publicado: (2017)

Mid-Gestation lethality of Atxn2l-Ablated Mice
por: Key, Jana, et al.
Publicado: (2020)

Genotype-informed estimation of risk of coronary heart disease based on genome-wide association data linked to the electronic medical record
por: Ding, Keyue, et al.
Publicado: (2011)

An Information Extraction Framework for Cohort Identification Using Electronic Health Records
por: Liu, Hongfang, et al.
Publicado: ( 201)

Identifying Abdominal Aortic Aneurysm Cases and Controls using Natural Language Processing of Radiology Reports
por: Sohn, Sunghwan, et al.
Publicado: ( 201)

Detection of ATXN2 Expansions in an Exome Dataset: An Underdiagnosed Cause of Parkinsonism
por: Casse, Fanny, et al.
Publicado: (2023)

A Network-Biology Informed Computational Drug Repositioning Strategy to Target Disease Risk Trajectories and Comorbidities of Peripheral Artery Disease
por: Shameer, Khader, et al.
Publicado: (2018)

The association of 9p21-3 locus with coronary atherosclerosis: a systematic review and meta-analysis
por: Munir, Muhammad S, et al.
Publicado: (2014)

Bias in Recording of Body Mass Index Data in the Electronic Health Record
por: Rea, Susan, et al.
Publicado: ( 201)

Noncoding repeat expansions for ALS in Japan are associated with the ATXN8OS gene
por: Hirano, Makito, et al.
Publicado: (2018)

Leveraging the Electronic Health Record to Address the COVID-19 Pandemic
por: Satterfield, Benjamin A., et al.
Publicado: (2021)

Repeat Associated Non-AUG Translation (RAN Translation) Dependent on Sequence Downstream of the ATXN2 CAG Repeat
por: Scoles, Daniel R., et al.
Publicado: (2015)

A quantitative high-throughput screen identifies compounds that lower expression of the SCA2-and ALS-associated gene ATXN2
por: Scoles, Daniel R., et al.
Publicado: (2022)

Cannot write session to /tmp/vufind_sessions/sess_bbi9rnbc11bi5rg85kjp01ivl0