Lrrk2 p.Q1111H substitution and Parkinson's disease in Latin America

Ignacio F. Mata, Greggory J. Wilhoite, Dora Yearout, Justin A. Bacon, Mario Cornejo-Olivas, Pilar Mazzetti, Victoria Marca, Olimpio Ortega, Oscar Acosta, Carlos Cosentino, Luis Torres, Angel C. Medina, Carolina Perez-Pastene, Fernando Díaz-Grez, Carles Vilariño-Güell, Pablo Venegas, Marcelo Miranda, Osvaldo Trujillo-Godoy, Luis Layson, Rodrigo AvelloElena Dieguez, Victor Raggio, Federico Micheli, Claudia Perandones, Victoria Alvarez, Juan Segura-Aguilar, Matthew J. Farrer, Cyrus P. Zabetian, Owen A. Ross

Research output: Contribution to journalArticlepeer-review

12 Scopus citations


Mutations in the LRRK2 gene are the most common genetic cause of Parkinson's disease, with frequencies displaying a high degree of population-specificity. Although more than 100 coding substitutions have been identified, only seven have been proven to be highly penetrant pathogenic mutations. Studies however are lacking in non-white populations. Recently, Lrrk2 p.Q1111H (rs78365431) was identified in two affected Hispanic brothers and absent in 386 non-Hispanic white healthy controls. We therefore screened this variant in 1460 individuals (1150 PD patients and 310 healthy controls) from 4 Latin American countries (Peru, Chile, Uruguay and Argentina).In our case-control series from Peru and Chile we observed an increased frequency of Lrrk2 p.Q1111H in patients (7.9%) compared to controls (5.4%) although the difference did not reach significance (OR 1.38; p = 0.10).In addition, the frequency of Lrrk2 p.Q1111H varied greatly between populations and further screening in a set of pure Amerindian and pure Spanish controls suggested that this variant likely originated in an Amerindian population. Further studies in other Latin American populations are warranted to assess its role as a risk factor for Parkinson's disease. Screening in Parkinson's disease patients from under-represented populations will increase our understanding of the role of LRRK2 variants in disease risk worldwide.

Original languageEnglish
Pages (from-to)629-631
Number of pages3
JournalParkinsonism and Related Disorders
Issue number8
StatePublished - Sep 2011

Bibliographical note

Funding Information:
This work was supported by the National Institutes of Health ( R01 NS065070 , P50 NS062684 , P50 NS072187 ), Department of Veterans Affairs ( 1I01BX000531 ), FONDECYT (# 1061083 ), Parkinson’s Disease Foundation , Michael J. Fox Foundation , and the family of Carl and Susan Bolch . Dr Cornejo-Olivas is the recipient of an NIH Fogarty International Clinical Research Fellowship at Vanderbilt University (R24 TW007988).


  • Latin America
  • Lrrk2
  • Parkinson disease


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