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

Reyes-Pérez, Paula ; Hor, Jia Wei ; Toh, Tzi Shin ; Sanyaolu, Arinola O. ; Pantazis, Caroline B. ; Leal, Thiago Peixoto ; Yeboah, Sheila ; Bandres-Ciga, Sara ; Morris, Huw R. and Makarious, Mary B. , et al. (2026) In npj Parkinson's Disease 12. p.1-12
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... (More)

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.

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organization
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type
Contribution to journal
publication status
published
subject
in
npj Parkinson's Disease
volume
12
article number
187
pages
1 - 12
publisher
Springer Nature
external identifiers
  • scopus:105047475204
  • pmid:42342696
ISSN
2373-8057
DOI
10.1038/s41531-026-01394-9
language
English
LU publication?
yes
additional info
Publisher Copyright: © The Author(s) 2026.
id
40f8f4f5-2c3e-4758-bfb3-65491c8eec90
date added to LUP
2026-08-26 09:02:42
date last changed
2026-08-27 10:03:02
@article{40f8f4f5-2c3e-4758-bfb3-65491c8eec90,
  abstract     = {{<p>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.</p>}},
  author       = {{Reyes-Pérez, Paula and Hor, Jia Wei and Toh, Tzi Shin and Sanyaolu, Arinola O. and Pantazis, Caroline B. and Leal, Thiago Peixoto and Yeboah, Sheila and Bandres-Ciga, Sara and Morris, Huw R. and Makarious, Mary B. and Senkevich, Konstantin and Leonard, Hampton and Atterling Brolin, Kajsa}},
  issn         = {{2373-8057}},
  language     = {{eng}},
  pages        = {{1--12}},
  publisher    = {{Springer Nature}},
  series       = {{npj Parkinson's Disease}},
  title        = {{Exploring MAPT-containing H1 and H2 haplotypes in Parkinson’s disease across diverse populations}},
  url          = {{http://dx.doi.org/10.1038/s41531-026-01394-9}},
  doi          = {{10.1038/s41531-026-01394-9}},
  volume       = {{12}},
  year         = {{2026}},
}