Intronic Haplotypes in the GBA Gene Do Not Predict Age at Diagnosis of Parkinson's Disease
ABSTRACT Background GBA mutations are a common risk factor for Parkinson's disease (PD). A recent study has suggested that GBA haplotypes, identified by intronic variants, can affect age at diagnosis of PD. Objectives In this study, we assess this hypothesis using long reads across a large coho...
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| Veröffentlicht in: | Movement disorders 2021-06, Vol.36 (6), p.1456-1460 |
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| container_title | Movement disorders |
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| creator | Toffoli, Marco Higgins, Abigail Lee, Chiao Koletsi, Sofia Chen, Xiao Eberle, Michael Sedlazeck, Fritz J. Mullin, Stephen Proukakis, Christos Schapira, Anthony H.V. |
| description | ABSTRACT
Background
GBA mutations are a common risk factor for Parkinson's disease (PD). A recent study has suggested that GBA haplotypes, identified by intronic variants, can affect age at diagnosis of PD.
Objectives
In this study, we assess this hypothesis using long reads across a large cohort and the publicly available Accelerating Medicines Partnership–Parkinson's Disease (AMP‐PD) cohort.
Methods
We recruited a PD cohort through the Remote Assessment of Parkinsonism Supporting Ongoing Development of Interventions in Gaucher Disease study (RAPSODI) and sequenced GBA using Oxford Nanopore technology. Genetic and clinical data on the full AMP‐PD cohort were obtained from the online portal of the consortium.
Results
A total of 1417 participants were analyzed. There was no significant difference in age at PD diagnosis between the two main haplotypes of the GBA gene.
Conclusions
GBA haplotypes do not affect age at diagnosis of PD in the two independent cohorts studied. © 2021 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society |
| doi_str_mv | 10.1002/mds.28616 |
| format | Article |
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Background
GBA mutations are a common risk factor for Parkinson's disease (PD). A recent study has suggested that GBA haplotypes, identified by intronic variants, can affect age at diagnosis of PD.
Objectives
In this study, we assess this hypothesis using long reads across a large cohort and the publicly available Accelerating Medicines Partnership–Parkinson's Disease (AMP‐PD) cohort.
Methods
We recruited a PD cohort through the Remote Assessment of Parkinsonism Supporting Ongoing Development of Interventions in Gaucher Disease study (RAPSODI) and sequenced GBA using Oxford Nanopore technology. Genetic and clinical data on the full AMP‐PD cohort were obtained from the online portal of the consortium.
Results
A total of 1417 participants were analyzed. There was no significant difference in age at PD diagnosis between the two main haplotypes of the GBA gene.
Conclusions
GBA haplotypes do not affect age at diagnosis of PD in the two independent cohorts studied. © 2021 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society</description><identifier>ISSN: 0885-3185</identifier><identifier>EISSN: 1531-8257</identifier><identifier>DOI: 10.1002/mds.28616</identifier><identifier>PMID: 34008887</identifier><language>eng</language><publisher>Hoboken, USA: John Wiley & Sons, Inc</publisher><subject>Age ; Basal ganglia ; Brain diseases ; Brief Report ; Central nervous system diseases ; Diagnosis ; Gaucher's disease ; GBA ; genetics ; Glucosylceramidase ; Glucosylceramidase - genetics ; Haplotypes ; Humans ; intronic variants ; Introns ; Medical diagnosis ; Movement disorders ; Mutation - genetics ; Neurodegenerative diseases ; Parkinson Disease - diagnosis ; Parkinson Disease - genetics ; Parkinson's ; Parkinson's disease ; Regular Issue ; Risk factors</subject><ispartof>Movement disorders, 2021-06, Vol.36 (6), p.1456-1460</ispartof><rights>2021 The Authors. published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society</rights><rights>2021 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.</rights><rights>2021. This article is published under http://creativecommons.org/licenses/by/4.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License.</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c4436-a06a4ae8e542e0deecab0816211edf0345608dd032d04472e9f106e5dd55d7953</citedby><cites>FETCH-LOGICAL-c4436-a06a4ae8e542e0deecab0816211edf0345608dd032d04472e9f106e5dd55d7953</cites><orcidid>0000-0001-6423-6539 ; 0000-0002-3255-9648</orcidid></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://onlinelibrary.wiley.com/doi/pdf/10.1002%2Fmds.28616$$EPDF$$P50$$Gwiley$$Hfree_for_read</linktopdf><linktohtml>$$Uhttps://onlinelibrary.wiley.com/doi/full/10.1002%2Fmds.28616$$EHTML$$P50$$Gwiley$$Hfree_for_read</linktohtml><link.rule.ids>230,314,776,780,881,1411,27901,27902,45550,45551</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/34008887$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Toffoli, Marco</creatorcontrib><creatorcontrib>Higgins, Abigail</creatorcontrib><creatorcontrib>Lee, Chiao</creatorcontrib><creatorcontrib>Koletsi, Sofia</creatorcontrib><creatorcontrib>Chen, Xiao</creatorcontrib><creatorcontrib>Eberle, Michael</creatorcontrib><creatorcontrib>Sedlazeck, Fritz J.</creatorcontrib><creatorcontrib>Mullin, Stephen</creatorcontrib><creatorcontrib>Proukakis, Christos</creatorcontrib><creatorcontrib>Schapira, Anthony H.V.</creatorcontrib><title>Intronic Haplotypes in the GBA Gene Do Not Predict Age at Diagnosis of Parkinson's Disease</title><title>Movement disorders</title><addtitle>Mov Disord</addtitle><description>ABSTRACT
Background
GBA mutations are a common risk factor for Parkinson's disease (PD). A recent study has suggested that GBA haplotypes, identified by intronic variants, can affect age at diagnosis of PD.
Objectives
In this study, we assess this hypothesis using long reads across a large cohort and the publicly available Accelerating Medicines Partnership–Parkinson's Disease (AMP‐PD) cohort.
Methods
We recruited a PD cohort through the Remote Assessment of Parkinsonism Supporting Ongoing Development of Interventions in Gaucher Disease study (RAPSODI) and sequenced GBA using Oxford Nanopore technology. Genetic and clinical data on the full AMP‐PD cohort were obtained from the online portal of the consortium.
Results
A total of 1417 participants were analyzed. There was no significant difference in age at PD diagnosis between the two main haplotypes of the GBA gene.
Conclusions
GBA haplotypes do not affect age at diagnosis of PD in the two independent cohorts studied. © 2021 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society</description><subject>Age</subject><subject>Basal ganglia</subject><subject>Brain diseases</subject><subject>Brief Report</subject><subject>Central nervous system diseases</subject><subject>Diagnosis</subject><subject>Gaucher's disease</subject><subject>GBA</subject><subject>genetics</subject><subject>Glucosylceramidase</subject><subject>Glucosylceramidase - genetics</subject><subject>Haplotypes</subject><subject>Humans</subject><subject>intronic variants</subject><subject>Introns</subject><subject>Medical diagnosis</subject><subject>Movement disorders</subject><subject>Mutation - genetics</subject><subject>Neurodegenerative diseases</subject><subject>Parkinson Disease - diagnosis</subject><subject>Parkinson Disease - genetics</subject><subject>Parkinson's</subject><subject>Parkinson's disease</subject><subject>Regular Issue</subject><subject>Risk factors</subject><issn>0885-3185</issn><issn>1531-8257</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2021</creationdate><recordtype>article</recordtype><sourceid>24P</sourceid><sourceid>EIF</sourceid><recordid>eNp1kcFOGzEQhi0EgkB76AtUljjQHhZsr-31XpBSUhIkCkiFCxfLrGeD6cYO9oYqb1-HAKKVeprD_-mbGf0IfaLkkBLCjmY2HTIlqdxAAypKWigmqk00IEqJoqRK7KDdlB4IoVRQuY12Sk5ypqoBuj3zfQzeNXhi5l3ol3NI2Hnc3wMefxviMXjAo4AvQo-vIljX9Hg4BWx6PHJm6kNyCYcWX5n4y_kU_EHKQQKT4APaak2X4OPL3EM3p9-vTybF-eX47GR4XjScl7IwRBpuQIHgDIgFaMwdUVQySsG2pORCEmUtKZklnFcM6pYSCcJaIWxVi3IPHa-988XdDGwD-SPT6Xl0MxOXOhin_068u9fT8KRVXl9xlQVfXgQxPC4g9XrmUgNdZzyERdJMMFUzXpdVRvf_QR_CIvr8XqY4ozVVciX8uqaaGFKK0L4dQ4leNaZzY_q5scx-fn_9G_laUQaO1sBv18Hy_yb9Y_RzrfwDOYaewQ</recordid><startdate>202106</startdate><enddate>202106</enddate><creator>Toffoli, Marco</creator><creator>Higgins, Abigail</creator><creator>Lee, Chiao</creator><creator>Koletsi, Sofia</creator><creator>Chen, Xiao</creator><creator>Eberle, Michael</creator><creator>Sedlazeck, Fritz J.</creator><creator>Mullin, Stephen</creator><creator>Proukakis, Christos</creator><creator>Schapira, Anthony H.V.</creator><general>John Wiley & Sons, Inc</general><general>Wiley Subscription Services, Inc</general><scope>24P</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7TK</scope><scope>8FD</scope><scope>FR3</scope><scope>K9.</scope><scope>NAPCQ</scope><scope>P64</scope><scope>RC3</scope><scope>7X8</scope><scope>5PM</scope><orcidid>https://orcid.org/0000-0001-6423-6539</orcidid><orcidid>https://orcid.org/0000-0002-3255-9648</orcidid></search><sort><creationdate>202106</creationdate><title>Intronic Haplotypes in the GBA Gene Do Not Predict Age at Diagnosis of Parkinson's Disease</title><author>Toffoli, Marco ; Higgins, Abigail ; Lee, Chiao ; Koletsi, Sofia ; Chen, Xiao ; Eberle, Michael ; Sedlazeck, Fritz J. ; Mullin, Stephen ; Proukakis, Christos ; Schapira, Anthony H.V.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c4436-a06a4ae8e542e0deecab0816211edf0345608dd032d04472e9f106e5dd55d7953</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2021</creationdate><topic>Age</topic><topic>Basal ganglia</topic><topic>Brain diseases</topic><topic>Brief Report</topic><topic>Central nervous system diseases</topic><topic>Diagnosis</topic><topic>Gaucher's disease</topic><topic>GBA</topic><topic>genetics</topic><topic>Glucosylceramidase</topic><topic>Glucosylceramidase - genetics</topic><topic>Haplotypes</topic><topic>Humans</topic><topic>intronic variants</topic><topic>Introns</topic><topic>Medical diagnosis</topic><topic>Movement disorders</topic><topic>Mutation - genetics</topic><topic>Neurodegenerative diseases</topic><topic>Parkinson Disease - diagnosis</topic><topic>Parkinson Disease - genetics</topic><topic>Parkinson's</topic><topic>Parkinson's disease</topic><topic>Regular Issue</topic><topic>Risk factors</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Toffoli, Marco</creatorcontrib><creatorcontrib>Higgins, Abigail</creatorcontrib><creatorcontrib>Lee, Chiao</creatorcontrib><creatorcontrib>Koletsi, Sofia</creatorcontrib><creatorcontrib>Chen, Xiao</creatorcontrib><creatorcontrib>Eberle, Michael</creatorcontrib><creatorcontrib>Sedlazeck, Fritz J.</creatorcontrib><creatorcontrib>Mullin, Stephen</creatorcontrib><creatorcontrib>Proukakis, Christos</creatorcontrib><creatorcontrib>Schapira, Anthony H.V.</creatorcontrib><collection>Wiley Online Library Open Access</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>Neurosciences Abstracts</collection><collection>Technology Research Database</collection><collection>Engineering Research Database</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>Nursing & Allied Health Premium</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>Genetics Abstracts</collection><collection>MEDLINE - Academic</collection><collection>PubMed Central (Full Participant titles)</collection><jtitle>Movement disorders</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Toffoli, Marco</au><au>Higgins, Abigail</au><au>Lee, Chiao</au><au>Koletsi, Sofia</au><au>Chen, Xiao</au><au>Eberle, Michael</au><au>Sedlazeck, Fritz J.</au><au>Mullin, Stephen</au><au>Proukakis, Christos</au><au>Schapira, Anthony H.V.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Intronic Haplotypes in the GBA Gene Do Not Predict Age at Diagnosis of Parkinson's Disease</atitle><jtitle>Movement disorders</jtitle><addtitle>Mov Disord</addtitle><date>2021-06</date><risdate>2021</risdate><volume>36</volume><issue>6</issue><spage>1456</spage><epage>1460</epage><pages>1456-1460</pages><issn>0885-3185</issn><eissn>1531-8257</eissn><abstract>ABSTRACT
Background
GBA mutations are a common risk factor for Parkinson's disease (PD). A recent study has suggested that GBA haplotypes, identified by intronic variants, can affect age at diagnosis of PD.
Objectives
In this study, we assess this hypothesis using long reads across a large cohort and the publicly available Accelerating Medicines Partnership–Parkinson's Disease (AMP‐PD) cohort.
Methods
We recruited a PD cohort through the Remote Assessment of Parkinsonism Supporting Ongoing Development of Interventions in Gaucher Disease study (RAPSODI) and sequenced GBA using Oxford Nanopore technology. Genetic and clinical data on the full AMP‐PD cohort were obtained from the online portal of the consortium.
Results
A total of 1417 participants were analyzed. There was no significant difference in age at PD diagnosis between the two main haplotypes of the GBA gene.
Conclusions
GBA haplotypes do not affect age at diagnosis of PD in the two independent cohorts studied. © 2021 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society</abstract><cop>Hoboken, USA</cop><pub>John Wiley & Sons, Inc</pub><pmid>34008887</pmid><doi>10.1002/mds.28616</doi><tpages>31</tpages><orcidid>https://orcid.org/0000-0001-6423-6539</orcidid><orcidid>https://orcid.org/0000-0002-3255-9648</orcidid><oa>free_for_read</oa></addata></record> |
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| ispartof | Movement disorders, 2021-06, Vol.36 (6), p.1456-1460 |
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| subjects | Age Basal ganglia Brain diseases Brief Report Central nervous system diseases Diagnosis Gaucher's disease GBA genetics Glucosylceramidase Glucosylceramidase - genetics Haplotypes Humans intronic variants Introns Medical diagnosis Movement disorders Mutation - genetics Neurodegenerative diseases Parkinson Disease - diagnosis Parkinson Disease - genetics Parkinson's Parkinson's disease Regular Issue Risk factors |
| title | Intronic Haplotypes in the GBA Gene Do Not Predict Age at Diagnosis of Parkinson's Disease |
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