Evidence map›Paper›PMID 42342696›Full record

ArticleNPJ Parkinson's disease2026

Exploring MAPT-containing H1 and H2 haplotypes in Parkinson's disease across diverse populations.

Paula Reyes-Pérez, Jia Wei Hor, Tzi Shin Toh, Arinola O Sanyaolu, Caroline B Pantazis, Thiago Peixoto Leal, Sheila Yeboah, Sara Bandres-Ciga, Huw R Morris, Mary B Makarious and 5 more

Abstract read
In one paragraph

Article in NPJ Parkinson's disease, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed, 1 pooled it
–field-weighted citation impact
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

2 citing papers in PubMed, 1 synthesis or guideline pooled it.

  1. Pooled it
  2. Observational
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

15 authors.

Paula Reyes-PérezLaboratorio Internacional de Investigación Sobre el Genoma Humano, Universidad Nacional Autónoma de México, Juriquilla, Mexico.
Jia Wei HorDivision of Neurology, Department of Medicine, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia.
Tzi Shin TohDivision of Neurology, Department of Medicine, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia.
Arinola O SanyaoluDepartment of Anatomy, College of Medicine, University of Lagos, Lagos, Nigeria.
Caroline B PantazisCoalition for Aligning Science, Washington, WA, USA.
Thiago Peixoto LealGenomic Medicine, Lerner Research Institute, Cleveland Clinic, Cleveland, OH, USA.
Sheila YeboahCenter for Alzheimer's and Related Dementias (CARD), National Institute on Aging and National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.
Sara Bandres-CigaCenter for Alzheimer's and Related Dementias (CARD), National Institute on Aging and National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.
Huw R MorrisDepartment of Clinical and Movement Neurosciences and Movement Disorders Centre, UCL Queen Square Institute of Neurology, University College London, London, UK.
Mary B MakariousCenter for Alzheimer's and Related Dementias (CARD), National Institute on Aging and National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.
Konstantin SenkevichThe Neuro (Montreal Neurological Institute-Hospital), McGill University, Montreal, QC, Canada.
Latin American Research Consortium on the Genetics of Parkinson’s Disease (LARGE-PD)
Global Parkinson’s Genetics Program (GP2)
Hampton LeonardCenter for Alzheimer's and Related Dementias (CARD), National Institute on Aging and National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.
Kajsa Atterling BrolinTranslational Neurogenetics Unit, Department of Experimental Medical Science, Lund University, Lund, Sweden. kajsa.atterling_brolin@med.lu.se.

Funding

iPSC Neurodegenerative Diseasses InitiativeZIAAG000535 · NIA · NATIONAL INSTITUTE ON AGING · PI COOKSON, MARK · 2019 to 2025
$48.2M
Genome wide SNP analysis in Parkinson's diseaseZIAAG000949 · NIA · NATIONAL INSTITUTE ON AGING · PI SINGLETON, ANDREW · 2009 to 2024
$12.6M
Intramural NIH HHS ZIA AG000535Intramural NIH HHS ZIA AG000949
6 · The paper itself

Abstract

Variation at the 17q21.31 locus, which contains the gene encoding microtubule-associated protein tau (MAPT), has been associated with neurodegenerative disorders, including Parkinson's disease (PD). This highly complex locus is characterized by two broadly defined haplotypes: H1 and the inverted H2 haplotype. While H1 has been associated with an increased PD risk and is present in all ancestry populations, H2 is enriched in individuals of European ancestry. So far, few studies have explored the H1 association with PD in non-European ancestries. Here, we investigated the haplotype and subhaplotype frequencies of H1 and H2 in 20,507 PD patients and 11,841 controls across eleven different ancestry groups from the Global Parkinson's Genetics Program (GP2) and the Latin American Research consortium on the GEnetics of Parkinson's Disease (LARGE-PD). Our results strongly support the involvement of the H1 haplotype in PD risk in individuals of European ancestry, with additional evidence suggesting an association across diverse ancestry groups. Additionally, we observed significant variation in the H1 subhaplotype frequencies within populations, highlighting the complexity of this genomic region and the relevance of its study in diverse ancestries to gain a more comprehensive understanding of the role this locus plays in neurodegenerative disease risk.

Identifiers

PMID42342696
PMCPMC13452820

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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.