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Investigation of autosomal genetic sex differences in Parkinson's disease

Abstract: Methods: In an effort to study sex-specific genetic factors associated with PD, we explored 2 large genetic datasets from the International Parkinson?s Disease Genomics Consortium and the UK Biobank consisting of 13,020male PD cases, 7,936 paternal proxy cases, 89,660 male controls, 7,947 female PD cases, 5,473 maternal proxy cases, and 90,662 female controls. We performed GWASmeta-analyses to identify distinct patterns of genetic risk contributing to disease inmale versus female PD cases. Results: In total, 19 genomewide significant regions were identified and no sex-specific effects were observed. A high genetic correlation between the male and female PD GWAS were identified (rg = 0.877) and heritability estimates were identical between male and female PD cases (~ 20%). Interpretation: We did not detect any significant genetic differences between male or female PD cases. Our study does not support the notion that common genetic variation on the autosomes could explain the difference in prevalence of PD between males and females cases at least when considering the current sample size under study. Further studies are warranted to investigate the genetic architecture of PD explained by X and Y chromosomes and further evaluate environmental effects that could potentially contribute to PD etiology in male versus female patients.

 Fuente: Annals of neurology, 2021, 90(1), 35-42

Editorial: Wiley-Liss

 Fecha de publicación: 01/04/2021

Nº de páginas: 8

Tipo de publicación: Artículo de Revista

 DOI: 10.1002/ana.26090

ISSN: 0364-5134

Url de la publicación: https://doi.org/10.1002/ana.26090

Autoría

BLAUWENDRAAT, CORNELIS

IWAKI, HIROTAKA

MAKARIOUS, MARY B.

BANDRES-CIGA, SARA

LEONARD, HAMPTON L.

GRENN, FRANCIS P.

LAKE, JULIE

KROHN, LYNNE

TAN, MANUELA

KIM, JONGGEOL J.

GIBBS, JESSE R.

HERNANDEZ, DENA G.

RUSKEY, JENNIFER A.

PIHLSTRØM, LASSE

TOFT, MATHIAS

HILTEN, JACOBUS J. VAN

MARINUS, JOHAN

SCHULTE, CLAUDIA

BROCKMANN, KATHRIN