Major Genetic Risk Factors for Dupuytren's Disease Are Inherited From Neandertals.
Mol Biol Evol
; 40(6)2023 06 01.
Article
em En
| MEDLINE
| ID: mdl-37315093
ABSTRACT
Dupuytren's disease is characterized by fingers becoming permanently bent in a flexed position. Whereas people of African ancestry are rarely afflicted by Dupuytren's disease, up to â¼30% of men over 60 years suffer from this condition in northern Europe. Here, we meta-analyze 3 biobanks comprising 7,871 cases and 645,880 controls and find 61 genome-wide significant variants associated with Dupuytren's disease. We show that 3 of the 61 loci harbor alleles of Neandertal origin, including the second and third most strongly associated ones (P = 6.4 × 10-132 and P = 9.2 × 10-69, respectively). For the most strongly associated Neandertal variant, we identify EPDR1 as the causal gene. Dupuytren's disease is an example of how admixture with Neandertals has shaped regional differences in disease prevalence.
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Texto completo:
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Base de dados:
MEDLINE
Assunto principal:
Contratura de Dupuytren
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Homem de Neandertal
Tipo de estudo:
Etiology_studies
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Prognostic_studies
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Risk_factors_studies
Limite:
Animals
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Humans
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Male
Idioma:
En
Ano de publicação:
2023
Tipo de documento:
Article