Evidence map›Paper›PMID 37365321›Full record

ArticleJournal of human genetics2023

Genome-wide association study identifies novel susceptibilities to adult moyamoya disease.

Jin Pyeong Jeon, Eun Pyo Hong, Eun Jin Ha, Bong Jun Kim, Dong Hyuk Youn, Sungyoung Lee, Hee Chang Lee, Kang Min Kim, Sung Ho Lee, Won-Sang Cho and 2 more

Abstract read
PubMed Publisher
In one paragraph

Article in Journal of human genetics, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.

0numbers the graph read from it
0cells of the map it votes in
7citing papers in PubMed
2.7field-weighted citation impact, top 9% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

7 citing papers in PubMed, 11 citations in OpenAlex.

  1. Novel Potential Risk Loci for Migraine in the Portuguese Population.International journal of molecular sciences · 2026
    Article
  2. Whole-Exome Sequencing Improves Risk Assessments of Adult Moyamoya Disease.Journal of clinical neurology (Seoul, Korea) · 2026
    Article
  3. Review
  4. ExploringBiomedicines · 2024
    Review
  5. Article
  6. Article
  7. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

12 authors at 2 institutions in 2 countries.

Jin Pyeong Jeon *Department of Neurosurgery, Hallym University College of Medicine, Chuncheon, Republic of Korea.ORCID http://orcid.org/0000-0001-8543-6855
Eun Pyo Hong *Institute of New Frontier Research, Hallym University College of Medicine, Chuncheon, Republic of Korea.ORCID http://orcid.org/0000-0001-7789-686X
Eun Jin HaDepartment of Neurosurgery, Seoul National University College of Medicine, Seoul, Republic of Korea.
Bong Jun KimInstitute of New Frontier Research, Hallym University College of Medicine, Chuncheon, Republic of Korea.
Dong Hyuk YounInstitute of New Frontier Research, Hallym University College of Medicine, Chuncheon, Republic of Korea.
Sungyoung LeeDepartment of Genomic Medicine, Center for Precision Medicine, Seoul National University Hospital, Seoul, Republic of Korea.
Hee Chang LeeDepartment of Neurosurgery, Seoul National University College of Medicine, Seoul, Republic of Korea.
Kang Min KimDepartment of Neurosurgery, Seoul National University College of Medicine, Seoul, Republic of Korea.
Sung Ho LeeDepartment of Neurosurgery, Seoul National University College of Medicine, Seoul, Republic of Korea.
Won-Sang ChoDepartment of Neurosurgery, Seoul National University College of Medicine, Seoul, Republic of Korea.
Hyun-Seung KangDepartment of Neurosurgery, Seoul National University College of Medicine, Seoul, Republic of Korea.
Jeong Eun KimDepartment of Neurosurgery, Seoul National University College of Medicine, Seoul, Republic of Korea. eunkim@snu.ac.kr.ORCID http://orcid.org/0000-0002-6927-3109
Seoul National University · KRHallym University · KR

Funding

Ministry of Health and Welfare (Ministry of Health, Welfare and Family Affairs) HR21C0198Seoul National University Hospital (SNUH) 0320180090
6 · The paper itself

Abstract

Genome-wide association study has limited to discover single-nucleotide polymorphisms (SNPs) in several ethnicities. Here, we investigated an initial GWAS to identify genetic modifiers predicting with adult moyamoya disease (MMD) in Koreans. GWAS was performed in 216 patients with MMD and 296 controls using the large-scale Asian-specific Axiom Precision Medicine Research Array. A subsequent fine-mapping analysis was conducted to assess the causal variants associated with adult MMD. A total of 489,966 out of 802,688 SNPs were subjected to quality control analysis. Twenty-one SNPs reached a genome-wide significance threshold (p = 5 × 10

Indexed as

Moyamoya DiseaseAdenosine TriphosphatasesAdultGenetic Predisposition to DiseaseGenome-Wide Association StudyHumansPolymorphism, Single NucleotideTranscription FactorsUbiquitin-Protein LigasesAdenosine TriphosphatasesRNF213 protein, humanTranscription FactorsUbiquitin-Protein Ligases

Identifiers

PMID37365321
OpenAlexW4382068491

What OpenQuestion holds

Textmetadata
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.