Genome-Wide Association Study of Intracranial Artery Stenosis Followed by Phenome-Wide Association Study

Dofuku, Shogo; Sonehara, Kyuto; Miyawaki, Satoru; Sakaue, Saori; Imai, Hideki; Shimizu, Masahiro; Hongo, Hiroki; Shinya, Yuki; Ohara, Kenta; Teranishi, Yu; Okano, Atsushi; Ono, Hideaki; Nakatomi, Hirofumi; Teraoka, Akira; Maeda, Yukihide; Nii, Takuro; Kishikawa, Toshihiro; Suzuki, Ken; Hirata, Jun; Takahashi, Meiko; Matsuda, Koichi; Kumanogoh, Atsushi; Matsuda, Fumihiko; Okada, Yukinori; Saito, Nobuhito

doi:10.1007/s12975-022-01049-w

Cited by 6 publications

(2 citation statements)

References 48 publications

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“…An increasing number of studies have been conducted on the genetic analysis of ICAS recently. [ 33 , 78 , 101 ] Although the genetic factors underlying ICAS remain to be elucidated, current research approaches have missed our papers related to this issue. Despite these limitations, the strength of this study is its comprehensive analysis of ICAS, an important cause of ischemic stroke.…”

Section: Discussionmentioning

confidence: 99%

A bibliometric analysis of the 100 most-cited clinical articles in the research of intracranial artery stenosis and intracranial atherosclerosis

Hirano,

Miyawaki,

Sakaguchi

et al. 2024

Surgical Neurology International

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Background: Intracranial arterial stenosis (ICAS), caused by intracranial atherosclerosis, is one of the major causes of ischemic stroke. This study identified the top 100 most-cited publications on ICAS through a bibliometric analysis. Methods: Two independent authors conducted a search in the Web of Science database for clinical articles on ICAS published between 1993 and 2022. The top 100 most-cited articles were then extracted. For each article, the analysis covered the title, author, country of origin/affiliation, journal, total number of citations, number of citations per year, and type of study. Results: The top 100 most-cited papers in the ICAS were authored by 565 authors from 12 countries and published in 29 journals. In terms of the 5-year trend, the largest number of papers were published between 2003 and 2007 (n = 31). The median number of citations for the 100 papers was 161 (range 109–1,115). The journal with the highest proportion of the 100 most published articles was Stroke, accounting for 41% of articles and 37% of the citations. According to country of origin, the United States of America accounted for the largest number of articles, followed by China, Japan, and South Korea, with these four countries together accounting for 81% of the total number of articles and 88% of the citations. Trends in the past five years included the use of terms such as acute ischemic stroke and mechanical thrombectomy. Conclusion: The findings of this study provide novel insight into this field and will facilitate future research endeavors.

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Section: Discussionmentioning

confidence: 99%

A bibliometric analysis of the 100 most-cited clinical articles in the research of intracranial artery stenosis and intracranial atherosclerosis

Hirano,

Miyawaki,

Sakaguchi

et al. 2024

Surgical Neurology International

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“…Since the introduction of PheWAS over a decade ago, it has become a powerful technique to study the association of genetic variants and phenotypic variations across human populations (Bastarache, et al, 2022; Denny, et al, 2010). A PubMed search in December 2023, using the search terms of “PheWAS” or “phenome-wide association” in Title/Abstract field, returned 679 publications, from only 3 publications in 2010 to 159 publications in 2023, conducted in many biobanks and countries, including All of Us (United States), UK Biobank, BioBank Japan, and many others (Dofuku, et al, 2023; Millwood, et al, 2016; Rao, et al, 2018; Schlueter, et al, 2023). PheWAS has been used to address different scientific objectives, such as refining results in conjunction with genome-wide association studies (GWAS), studying comorbidities and precision subsets of disease, and evaluating potential repurposing of medications and predicting adverse drug reactions (Bastarache, et al, 2022).…”

Section: Introductionmentioning

confidence: 99%

PheWAS analysis on large-scale biobank data with PheTK

Tran,

Schlueter,

Zeng

et al. 2024

Preprint

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With the rapid growth of genetic data linked to electronic health record data in huge cohorts, large-scale phenome-wide association study (PheWAS), have become powerful discovery tools in biomedical research. PheWAS is an analysis method to study phenotype associations utilizing longitudinal electronic health record (EHR) data. Previous PheWAS packages were developed mostly in the days of smaller biobanks and with earlier PheWAS approaches. PheTK was designed to simplify analysis and efficiently handle biobank-scale data. PheTK uses multithreading and supports a full PheWAS workflow including extraction of data from OMOP databases and Hail matrix tables as well as PheWAS analysis for both phecode version 1.2 and phecodeX. Benchmarking results showed PheTK took 64% less time than the R PheWAS package to complete the same workflow. PheTK can be run locally or on cloud platforms such as the All of Us Researcher Workbench (All of Us) or the UK Biobank (UKB) Research Analysis Platform (RAP).

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Multi-Omics Approaches to Discovering Acute Stroke Injury and Recovery Mechanisms

Giles,

Lee,

Dhar

2024

Stroke Genetics

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Genome-Wide Association Study of Intracranial Artery Stenosis Followed by Phenome-Wide Association Study

Cited by 6 publications

References 48 publications

A bibliometric analysis of the 100 most-cited clinical articles in the research of intracranial artery stenosis and intracranial atherosclerosis

A bibliometric analysis of the 100 most-cited clinical articles in the research of intracranial artery stenosis and intracranial atherosclerosis

PheWAS analysis on large-scale biobank data with PheTK

Multi-Omics Approaches to Discovering Acute Stroke Injury and Recovery Mechanisms

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