Variable frequency of LRRK2 variants in the Latin American research consortium on the genetics of Parkinson’s disease (LARGE-PD), a case of ancestry
Genetic risk: Uncovering ethnic-specific mutations A new study reveals the frequency of Leucine-Rich Repeat Kinase 2 (LRRK2) mutations associated with Parkinson’s disease (PD) in Latin Americans. Ignacio F. Mata at the University of Washington and the VA Puget Sound Health Care System, Seattle, USA,...
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Nature Portfolio
2017
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oai:doaj.org-article:8fc179d0b7984d899f5ac72f47c1dfe82021-12-02T16:09:02ZVariable frequency of LRRK2 variants in the Latin American research consortium on the genetics of Parkinson’s disease (LARGE-PD), a case of ancestry10.1038/s41531-017-0020-62373-8057https://doaj.org/article/8fc179d0b7984d899f5ac72f47c1dfe82017-06-01T00:00:00Zhttps://doi.org/10.1038/s41531-017-0020-6https://doaj.org/toc/2373-8057Genetic risk: Uncovering ethnic-specific mutations A new study reveals the frequency of Leucine-Rich Repeat Kinase 2 (LRRK2) mutations associated with Parkinson’s disease (PD) in Latin Americans. Ignacio F. Mata at the University of Washington and the VA Puget Sound Health Care System, Seattle, USA, and colleagues from six South American countries have screened the largest cohort of Latino PD patients ever assembled (1739) and 1104 healthy controls for LRRK2 mutations that are known to cause PD in European-derived populations. They found that the p.G2019S missense mutation was the most common, although its frequency varied greatly between countries and was directly correlated with European ancestry. In contrast, the p.R1441G mutation which is common in Spain is rare in Latin America. Further analyses of this cohort will help to further characterize the genetic profile of PD patients in Latin America and contribute to the development of personalized medicines.Mario Cornejo-OlivasLuis TorresMario R. Velit-SalazarMiguel Inca-MartinezPilar MazzettiCarlos CosentinoFederico MicheliClaudia PerandonesElena DieguezVictor RaggioVitor TumasVanderci BorgesHenrique B. FerrazCarlos R. M. RiederArtur Shumacher-SchuhCarlos Velez-PardoMarlene Jimenez-Del-RioFrancisco LoperaJorge Chang-CastelloBrennie Andreé-MunozSarah WaldherrDora YearoutCyrus P. ZabetianIgnacio F. MataNature PortfolioarticleNeurology. Diseases of the nervous systemRC346-429ENnpj Parkinson's Disease, Vol 3, Iss 1, Pp 1-6 (2017) |
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Neurology. Diseases of the nervous system RC346-429 |
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Neurology. Diseases of the nervous system RC346-429 Mario Cornejo-Olivas Luis Torres Mario R. Velit-Salazar Miguel Inca-Martinez Pilar Mazzetti Carlos Cosentino Federico Micheli Claudia Perandones Elena Dieguez Victor Raggio Vitor Tumas Vanderci Borges Henrique B. Ferraz Carlos R. M. Rieder Artur Shumacher-Schuh Carlos Velez-Pardo Marlene Jimenez-Del-Rio Francisco Lopera Jorge Chang-Castello Brennie Andreé-Munoz Sarah Waldherr Dora Yearout Cyrus P. Zabetian Ignacio F. Mata Variable frequency of LRRK2 variants in the Latin American research consortium on the genetics of Parkinson’s disease (LARGE-PD), a case of ancestry |
| description |
Genetic risk: Uncovering ethnic-specific mutations A new study reveals the frequency of Leucine-Rich Repeat Kinase 2 (LRRK2) mutations associated with Parkinson’s disease (PD) in Latin Americans. Ignacio F. Mata at the University of Washington and the VA Puget Sound Health Care System, Seattle, USA, and colleagues from six South American countries have screened the largest cohort of Latino PD patients ever assembled (1739) and 1104 healthy controls for LRRK2 mutations that are known to cause PD in European-derived populations. They found that the p.G2019S missense mutation was the most common, although its frequency varied greatly between countries and was directly correlated with European ancestry. In contrast, the p.R1441G mutation which is common in Spain is rare in Latin America. Further analyses of this cohort will help to further characterize the genetic profile of PD patients in Latin America and contribute to the development of personalized medicines. |
| format |
article |
| author |
Mario Cornejo-Olivas Luis Torres Mario R. Velit-Salazar Miguel Inca-Martinez Pilar Mazzetti Carlos Cosentino Federico Micheli Claudia Perandones Elena Dieguez Victor Raggio Vitor Tumas Vanderci Borges Henrique B. Ferraz Carlos R. M. Rieder Artur Shumacher-Schuh Carlos Velez-Pardo Marlene Jimenez-Del-Rio Francisco Lopera Jorge Chang-Castello Brennie Andreé-Munoz Sarah Waldherr Dora Yearout Cyrus P. Zabetian Ignacio F. Mata |
| author_facet |
Mario Cornejo-Olivas Luis Torres Mario R. Velit-Salazar Miguel Inca-Martinez Pilar Mazzetti Carlos Cosentino Federico Micheli Claudia Perandones Elena Dieguez Victor Raggio Vitor Tumas Vanderci Borges Henrique B. Ferraz Carlos R. M. Rieder Artur Shumacher-Schuh Carlos Velez-Pardo Marlene Jimenez-Del-Rio Francisco Lopera Jorge Chang-Castello Brennie Andreé-Munoz Sarah Waldherr Dora Yearout Cyrus P. Zabetian Ignacio F. Mata |
| author_sort |
Mario Cornejo-Olivas |
| title |
Variable frequency of LRRK2 variants in the Latin American research consortium on the genetics of Parkinson’s disease (LARGE-PD), a case of ancestry |
| title_short |
Variable frequency of LRRK2 variants in the Latin American research consortium on the genetics of Parkinson’s disease (LARGE-PD), a case of ancestry |
| title_full |
Variable frequency of LRRK2 variants in the Latin American research consortium on the genetics of Parkinson’s disease (LARGE-PD), a case of ancestry |
| title_fullStr |
Variable frequency of LRRK2 variants in the Latin American research consortium on the genetics of Parkinson’s disease (LARGE-PD), a case of ancestry |
| title_full_unstemmed |
Variable frequency of LRRK2 variants in the Latin American research consortium on the genetics of Parkinson’s disease (LARGE-PD), a case of ancestry |
| title_sort |
variable frequency of lrrk2 variants in the latin american research consortium on the genetics of parkinson’s disease (large-pd), a case of ancestry |
| publisher |
Nature Portfolio |
| publishDate |
2017 |
| url |
https://doaj.org/article/8fc179d0b7984d899f5ac72f47c1dfe8 |
| work_keys_str_mv |
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