Por favor, use este identificador para citar o enlazar este ítem: https://hdl.handle.net/20.500.12008/53194

Título:

X-Chromosome Association Study in Latin American Cohorts Identifies New Loci in Parkinson's Disease

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Autor:

Leal, Thiago P.
Rao, Shilpa C.
French-Kwawu, Jennifer N.
Gouveia, Mateus H.
Borda, Víctor
Bandres-Ciga, Sara
Inca-Martinez, Miguel
Mason, Emily A.
Horimoto, Andrea R. V. R.
Loesch, Douglas P.
Sarihan, Elif I.
Cornejo-Olivas, Mario R.
Torres, Luis E.
Mazzetti-Soler, Pilar E.
Cosentino, Carlos
Sarapura-Castro, Elison H.
Rivera-Valdivia, Andrea
Medina, Ángel C.
Dieguez, Elena M.
Raggio, Víctor E.
Lescano, Andrés

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Tipo de documento:

Artículo

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Palabras clave:

Admixed populations
Hipanic/latino
Parkinson’s disease
Underrepresented populations
x-chromosome wide association study

Descriptores:

GRUPOS RACIALES
RELACIONES RACIALES
HISPÁNICOS O LATINOS
MINORÍAS ÉTNICAS Y RACIALES
ENFERMEDAD DE PARKINSON
CROMOSOMA X

Año de publicación:

2023

Contenido:

Resumen:

Background: Sex differences in Parkinson’s disease (PD) risk are well-known. However, the role of sex chromosomes in the development and progression of PD is still unclear. Objective: The objective of this study was to perform the first X-chromosome–wide association study for PD risk in a Latin American cohort. Methods: We used data from three admixed cohorts: (1) Latin American Research consortium on the Genetics of Parkinson’s Disease (n = 1504) as discover cohort, and (2) Latino cohort from International Parkinson Disease Genomics Consortium (n =155) and (3) Bambui Aging cohort (n = 1442) as replication cohorts. We also developed an X-chromosome framework specifically designed for admixed populations. Results: We identified eight linkage disequilibrium regions associated with PD. We replicated one of these regions (top variant rs525496; discovery odds ratio [95% confidence interval]: 0.60 [0.478–0.77], P = 3.13 10 5 replication odds ratio: 0.60 [0.37–0.98], P = 0.04). rs5525496 is associated with multiple expression quantitative trait loci in brain and non-brain tissues, including RAB9B, H2BFM, TSMB15B, and GLRA4, but colocalization analysis suggests that rs5525496 may not mediate risk by expression of these genes. We also replicated a previous X-chromosome–wide association study finding (rs28602900), showing that this variant is associated with PD in non-European populations. Conclusions: Our results reinforce the importance of including X-chromosome and diverse populations in genetic studies. © 2023 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.

Descripción:

Thiago P. Leal, PhD,1 Shilpa C. Rao, PhD,2 Jennifer N. French-Kwawu, MPH,3 Mateus H. Gouveia, PhD,4 Victor Borda, PhD,3 Sara Bandres-Ciga, PhD,5 Miguel Inca-Martinez, BSc,1 Emily A. Mason, BSc,6 Andrea R.V.R. Horimoto, PhD,7 Douglas P. Loesch, PhD,3 Elif I. Sarihan, MD,1 Mario R. Cornejo-Olivas, MD,8,9 Luis E. Torres, MD,10 Pilar E. Mazzetti-Soler, MD,9,11 Carlos Cosentino, MD,10 Elison H. Sarapura-Castro, MD,9 Andrea Rivera-Valdivia, MD,9 Angel C. Medina, PhD,12 Elena M. Dieguez, MD,13 Víctor E. Raggio, MD,14 Andrés Lescano, MD,13 Vitor Tumas, PhD, MD,15 Vanderci Borges, PhD,16 Henrique B. Ferraz, PhD, MD,16 Carlos R. Rieder, PhD,17 Artur Schumacher Schuh, PhD, MD,18,19 Bruno L. Santos-Lobato, PhD, MD,20 Carlos Velez-Pardo, PhD,21 Marlene Jimenez-Del-Rio, PhD,21 Francisco Lopera, MD,21 Sonia Moreno, PhD,21 Pedro Chana-Cuevas, MD,22 William Fernandez, MD,23 Gonzalo Arboleda, PhD, MD,23 Humberto Arboleda, MD,23 Carlos E. Arboleda Bustos, PhD,23 Dora Yearout, BS,24,25 Maira T. Barbosa, PhD, MD,26,27 Francisco E.C. Cardoso, PhD, MD,28 Paulo Caramelli, PhD, MD,26 Mauro C.Q. Cunningham, MSc, MD,26,28 Débora P. Maia, MSc, MD,28 Maria F. Lima-Costa, PhD,29 Eduardo Tarazona-Santos, PhD,30 Cyrus P. Zabetian, MD, MS,24,25 International Parkinson Disease Genomics Consortium (IPDGC), Timothy A. Thornton, PhD,31 Timothy D. O’Connor, PhD,3,32,33,34 Ignacio F. Mata, PhD,1* and on behalf of the Latin American Research Consortium on the Genetics of Parkinson’s Disease (LARGE-PD)

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Editorial:

Wiley

EN:

Movement Disorders, 2023;38(9):1625-1635

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Citación:

Leal T, Rao S, French-Kwawu J yotros. X-Chromosome Association Study in Latin American Cohorts Identifies New Loci in Parkinson's Disease. Movement Disorders [en línea]. 2023;38(9):1625-1635

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1531-8257

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Licencia Creative Commons Atribución - No Comercial - Sin Derivadas (CC - By-NC-ND 4.0)

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