A genetic analysis of a Spanish population with early onset Parkinson's disease
Both recessive and dominant genetic forms of Parkinson's disease have been described. The aim of this study was to assess the contribution of several genes to the pathophysiology of early onset Parkinson's disease in a cohort from central Spain. We analyzed a cohort of 117 unrelated patien...
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| Veröffentlicht in: | PloS one 2020-09, Vol.15 (9), p.e0238098-e0238098 |
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| creator | Cristina, Tejera-Parrado Pablo, Mir Teresa, Periñán María Lydia, Vela-Desojo Irene, Abreu-Rodríguez Araceli, Alonso-Cánovas Inmaculada, Bernal-Bernal Marta, Bonilla-Toribio Dolores, Buiza-Rueda José, Catalán-Alonso María Rocío, García-Ramos José, García-Ruiz Pedro Ismael, Huertas-Fernández Silvia, Jesús Labrador, Miguel A-Espinosa Lydia, López-Manzanares Carlos, Martínez-Castrillo Juan Posada, Ignacio J Ana, Rojo-Sebastián Cristina, Ruiz-Huete Javier, Del Val Gómez-Garre, Pilar |
| description | Both recessive and dominant genetic forms of Parkinson's disease have been described. The aim of this study was to assess the contribution of several genes to the pathophysiology of early onset Parkinson's disease in a cohort from central Spain.
We analyzed a cohort of 117 unrelated patients with early onset Parkinson's disease using a pipeline, based on a combination of a next-generation sequencing panel of 17 genes previously related with Parkinson's disease and other Parkinsonisms and CNV screening.
Twenty-six patients (22.22%) carried likely pathogenic variants in PARK2, LRRK2, PINK1, or GBA. The gene most frequently mutated was PARK2, and p.Asn52Metfs*29 was the most common variation in this gene. Pathogenic variants were not observed in genes SNCA, FBXO7, PARK7, HTRA2, DNAJC6, PLA2G6, and UCHL1. Co-occurrence of pathogenic variants involving two genes was observed in ATP13A2 and PARK2 genes, as well as LRRK2 and GIGYF2 genes.
Our results contribute to the understanding of the genetic architecture associated with early onset Parkinson's disease, showing both PARK2 and LRRK2 play an important role in Spanish Parkinson's disease patients. Rare variants in ATP13A2 and GIGYF2 may contribute to PD risk. However, a large proportion of genetic components remains unknown. This study might contribute to genetic diagnosis and counseling for families with early onset Parkinson's disease. |
| doi_str_mv | 10.1371/journal.pone.0238098 |
| format | Article |
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We analyzed a cohort of 117 unrelated patients with early onset Parkinson's disease using a pipeline, based on a combination of a next-generation sequencing panel of 17 genes previously related with Parkinson's disease and other Parkinsonisms and CNV screening.
Twenty-six patients (22.22%) carried likely pathogenic variants in PARK2, LRRK2, PINK1, or GBA. The gene most frequently mutated was PARK2, and p.Asn52Metfs*29 was the most common variation in this gene. Pathogenic variants were not observed in genes SNCA, FBXO7, PARK7, HTRA2, DNAJC6, PLA2G6, and UCHL1. Co-occurrence of pathogenic variants involving two genes was observed in ATP13A2 and PARK2 genes, as well as LRRK2 and GIGYF2 genes.
Our results contribute to the understanding of the genetic architecture associated with early onset Parkinson's disease, showing both PARK2 and LRRK2 play an important role in Spanish Parkinson's disease patients. Rare variants in ATP13A2 and GIGYF2 may contribute to PD risk. However, a large proportion of genetic components remains unknown. This study might contribute to genetic diagnosis and counseling for families with early onset Parkinson's disease.</description><identifier>ISSN: 1932-6203</identifier><identifier>EISSN: 1932-6203</identifier><identifier>DOI: 10.1371/journal.pone.0238098</identifier><identifier>PMID: 32870915</identifier><language>eng</language><publisher>United States: Public Library of Science</publisher><subject>Adult ; Age of Onset ; Analysis ; Biology and Life Sciences ; Cohort Studies ; Deoxyribonucleic acid ; Development and progression ; DNA ; Female ; Genes ; Genetic analysis ; Genetic aspects ; Genetic screening ; Genetic Testing ; Genetic Variation ; Genomes ; Health risks ; High-Throughput Nucleotide Sequencing ; Humans ; LRRK2 protein ; Male ; Medicine and Health Sciences ; Middle Aged ; Movement disorders ; Mutation ; Neurodegenerative diseases ; Next-generation sequencing ; PARK7 protein ; Parkinson disease ; Parkinson Disease - epidemiology ; Parkinson Disease - genetics ; Parkinson's disease ; People and places ; Proteins ; PTEN-induced putative kinase ; Research and analysis methods ; Spain - epidemiology</subject><ispartof>PloS one, 2020-09, Vol.15 (9), p.e0238098-e0238098</ispartof><rights>COPYRIGHT 2020 Public Library of Science</rights><rights>2020 Cristina et al. This is an open access article distributed under the terms of the Creative Commons Attribution License: http://creativecommons.org/licenses/by/4.0/ (the “License”), which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License.</rights><rights>2020 Cristina et al 2020 Cristina et al</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c692t-a1704748bd3afecbac5bda81d1fdd7b80a4dceb1206e3c4127e325027fcb785d3</citedby><cites>FETCH-LOGICAL-c692t-a1704748bd3afecbac5bda81d1fdd7b80a4dceb1206e3c4127e325027fcb785d3</cites><orcidid>0000-0001-7744-6850 ; 0000-0002-0437-6182</orcidid></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC7462269/pdf/$$EPDF$$P50$$Gpubmedcentral$$Hfree_for_read</linktopdf><linktohtml>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC7462269/$$EHTML$$P50$$Gpubmedcentral$$Hfree_for_read</linktohtml><link.rule.ids>230,314,727,780,784,864,885,2102,2928,23866,27924,27925,53791,53793,79600,79601</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/32870915$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><contributor>Toft, Mathias</contributor><creatorcontrib>Cristina, Tejera-Parrado</creatorcontrib><creatorcontrib>Pablo, Mir</creatorcontrib><creatorcontrib>Teresa, Periñán María</creatorcontrib><creatorcontrib>Lydia, Vela-Desojo</creatorcontrib><creatorcontrib>Irene, Abreu-Rodríguez</creatorcontrib><creatorcontrib>Araceli, Alonso-Cánovas</creatorcontrib><creatorcontrib>Inmaculada, Bernal-Bernal</creatorcontrib><creatorcontrib>Marta, Bonilla-Toribio</creatorcontrib><creatorcontrib>Dolores, Buiza-Rueda</creatorcontrib><creatorcontrib>José, Catalán-Alonso María</creatorcontrib><creatorcontrib>Rocío, García-Ramos</creatorcontrib><creatorcontrib>José, García-Ruiz Pedro</creatorcontrib><creatorcontrib>Ismael, Huertas-Fernández</creatorcontrib><creatorcontrib>Silvia, Jesús</creatorcontrib><creatorcontrib>Labrador, Miguel A-Espinosa</creatorcontrib><creatorcontrib>Lydia, López-Manzanares</creatorcontrib><creatorcontrib>Carlos, Martínez-Castrillo Juan</creatorcontrib><creatorcontrib>Posada, Ignacio J</creatorcontrib><creatorcontrib>Ana, Rojo-Sebastián</creatorcontrib><creatorcontrib>Cristina, Ruiz-Huete</creatorcontrib><creatorcontrib>Javier, Del Val</creatorcontrib><creatorcontrib>Gómez-Garre, Pilar</creatorcontrib><title>A genetic analysis of a Spanish population with early onset Parkinson's disease</title><title>PloS one</title><addtitle>PLoS One</addtitle><description>Both recessive and dominant genetic forms of Parkinson's disease have been described. The aim of this study was to assess the contribution of several genes to the pathophysiology of early onset Parkinson's disease in a cohort from central Spain.
We analyzed a cohort of 117 unrelated patients with early onset Parkinson's disease using a pipeline, based on a combination of a next-generation sequencing panel of 17 genes previously related with Parkinson's disease and other Parkinsonisms and CNV screening.
Twenty-six patients (22.22%) carried likely pathogenic variants in PARK2, LRRK2, PINK1, or GBA. The gene most frequently mutated was PARK2, and p.Asn52Metfs*29 was the most common variation in this gene. Pathogenic variants were not observed in genes SNCA, FBXO7, PARK7, HTRA2, DNAJC6, PLA2G6, and UCHL1. Co-occurrence of pathogenic variants involving two genes was observed in ATP13A2 and PARK2 genes, as well as LRRK2 and GIGYF2 genes.
Our results contribute to the understanding of the genetic architecture associated with early onset Parkinson's disease, showing both PARK2 and LRRK2 play an important role in Spanish Parkinson's disease patients. Rare variants in ATP13A2 and GIGYF2 may contribute to PD risk. However, a large proportion of genetic components remains unknown. This study might contribute to genetic diagnosis and counseling for families with early onset Parkinson's disease.</description><subject>Adult</subject><subject>Age of Onset</subject><subject>Analysis</subject><subject>Biology and Life Sciences</subject><subject>Cohort Studies</subject><subject>Deoxyribonucleic acid</subject><subject>Development and progression</subject><subject>DNA</subject><subject>Female</subject><subject>Genes</subject><subject>Genetic analysis</subject><subject>Genetic aspects</subject><subject>Genetic screening</subject><subject>Genetic Testing</subject><subject>Genetic Variation</subject><subject>Genomes</subject><subject>Health risks</subject><subject>High-Throughput Nucleotide Sequencing</subject><subject>Humans</subject><subject>LRRK2 protein</subject><subject>Male</subject><subject>Medicine and Health Sciences</subject><subject>Middle Aged</subject><subject>Movement disorders</subject><subject>Mutation</subject><subject>Neurodegenerative diseases</subject><subject>Next-generation sequencing</subject><subject>PARK7 protein</subject><subject>Parkinson disease</subject><subject>Parkinson Disease - epidemiology</subject><subject>Parkinson Disease - genetics</subject><subject>Parkinson's disease</subject><subject>People and places</subject><subject>Proteins</subject><subject>PTEN-induced putative kinase</subject><subject>Research and analysis methods</subject><subject>Spain - 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one</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Cristina, Tejera-Parrado</au><au>Pablo, Mir</au><au>Teresa, Periñán María</au><au>Lydia, Vela-Desojo</au><au>Irene, Abreu-Rodríguez</au><au>Araceli, Alonso-Cánovas</au><au>Inmaculada, Bernal-Bernal</au><au>Marta, Bonilla-Toribio</au><au>Dolores, Buiza-Rueda</au><au>José, Catalán-Alonso María</au><au>Rocío, García-Ramos</au><au>José, García-Ruiz Pedro</au><au>Ismael, Huertas-Fernández</au><au>Silvia, Jesús</au><au>Labrador, Miguel A-Espinosa</au><au>Lydia, López-Manzanares</au><au>Carlos, Martínez-Castrillo Juan</au><au>Posada, Ignacio J</au><au>Ana, Rojo-Sebastián</au><au>Cristina, Ruiz-Huete</au><au>Javier, Del Val</au><au>Gómez-Garre, Pilar</au><au>Toft, Mathias</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>A genetic analysis of a Spanish population with early onset Parkinson's disease</atitle><jtitle>PloS one</jtitle><addtitle>PLoS One</addtitle><date>2020-09-01</date><risdate>2020</risdate><volume>15</volume><issue>9</issue><spage>e0238098</spage><epage>e0238098</epage><pages>e0238098-e0238098</pages><issn>1932-6203</issn><eissn>1932-6203</eissn><abstract>Both recessive and dominant genetic forms of Parkinson's disease have been described. The aim of this study was to assess the contribution of several genes to the pathophysiology of early onset Parkinson's disease in a cohort from central Spain.
We analyzed a cohort of 117 unrelated patients with early onset Parkinson's disease using a pipeline, based on a combination of a next-generation sequencing panel of 17 genes previously related with Parkinson's disease and other Parkinsonisms and CNV screening.
Twenty-six patients (22.22%) carried likely pathogenic variants in PARK2, LRRK2, PINK1, or GBA. The gene most frequently mutated was PARK2, and p.Asn52Metfs*29 was the most common variation in this gene. Pathogenic variants were not observed in genes SNCA, FBXO7, PARK7, HTRA2, DNAJC6, PLA2G6, and UCHL1. Co-occurrence of pathogenic variants involving two genes was observed in ATP13A2 and PARK2 genes, as well as LRRK2 and GIGYF2 genes.
Our results contribute to the understanding of the genetic architecture associated with early onset Parkinson's disease, showing both PARK2 and LRRK2 play an important role in Spanish Parkinson's disease patients. Rare variants in ATP13A2 and GIGYF2 may contribute to PD risk. However, a large proportion of genetic components remains unknown. This study might contribute to genetic diagnosis and counseling for families with early onset Parkinson's disease.</abstract><cop>United States</cop><pub>Public Library of Science</pub><pmid>32870915</pmid><doi>10.1371/journal.pone.0238098</doi><tpages>e0238098</tpages><orcidid>https://orcid.org/0000-0001-7744-6850</orcidid><orcidid>https://orcid.org/0000-0002-0437-6182</orcidid><oa>free_for_read</oa></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 1932-6203 |
| ispartof | PloS one, 2020-09, Vol.15 (9), p.e0238098-e0238098 |
| issn | 1932-6203 1932-6203 |
| language | eng |
| recordid | cdi_plos_journals_2439291158 |
| source | MEDLINE; DOAJ Directory of Open Access Journals; Public Library of Science (PLoS) Journals Open Access; Free E-Journal (出版社公開部分のみ）; PubMed Central; Free Full-Text Journals in Chemistry |
| subjects | Adult Age of Onset Analysis Biology and Life Sciences Cohort Studies Deoxyribonucleic acid Development and progression DNA Female Genes Genetic analysis Genetic aspects Genetic screening Genetic Testing Genetic Variation Genomes Health risks High-Throughput Nucleotide Sequencing Humans LRRK2 protein Male Medicine and Health Sciences Middle Aged Movement disorders Mutation Neurodegenerative diseases Next-generation sequencing PARK7 protein Parkinson disease Parkinson Disease - epidemiology Parkinson Disease - genetics Parkinson's disease People and places Proteins PTEN-induced putative kinase Research and analysis methods Spain - epidemiology |
| title | A genetic analysis of a Spanish population with early onset Parkinson's disease |
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