Rare variants analysis of cutaneous malignant melanoma genes in Parkinson's disease.
Identifieur interne : 000054 ( PubMed/Curation ); précédent : 000053; suivant : 000055Rare variants analysis of cutaneous malignant melanoma genes in Parkinson's disease.
Auteurs : S J Lubbe [Royaume-Uni] ; V. Escott-Price [Royaume-Uni] ; A. Brice [France] ; T. Gasser [Allemagne] ; A M Pittman [Royaume-Uni] ; J. Bras [Royaume-Uni] ; J. Hardy [Royaume-Uni] ; P. Heutink [Pays-Bas] ; N M Wood [Royaume-Uni] ; A B Singleton [États-Unis] ; D G Grosset [Royaume-Uni] ; C B Carroll [Royaume-Uni] ; M H Law [Australie] ; F. Demenais [France] ; M M Iles [Royaume-Uni] ; D T Bishop [Royaume-Uni] ; J. Newton-Bishop [Royaume-Uni] ; N M Williams [Royaume-Uni] ; H R Morris [Royaume-Uni]Source :
- Neurobiology of aging [ 1558-1497 ] ; 2016.
Abstract
A shared genetic susceptibility between cutaneous malignant melanoma (CMM) and Parkinson's disease (PD) has been suggested. We investigated this by assessing the contribution of rare variants in genes involved in CMM to PD risk. We studied rare variation across 29 CMM risk genes using high-quality genotype data in 6875 PD cases and 6065 controls and sought to replicate findings using whole-exome sequencing data from a second independent cohort totaling 1255 PD cases and 473 controls. No statistically significant enrichment of rare variants across all genes, per gene, or for any individual variant was detected in either cohort. There were nonsignificant trends toward different carrier frequencies between PD cases and controls, under different inheritance models, in the following CMM risk genes: BAP1, DCC, ERBB4, KIT, MAPK2, MITF, PTEN, and TP53. The very rare TYR p.V275F variant, which is a pathogenic allele for recessive albinism, was more common in PD cases than controls in 3 independent cohorts. Tyrosinase, encoded by TYR, is the rate-limiting enzyme for the production of neuromelanin, and has a role in the production of dopamine. These results suggest a possible role for another gene in the dopamine-biosynthetic pathway in susceptibility to neurodegenerative Parkinsonism, but further studies in larger PD cohorts are needed to accurately determine the role of these genes/variants in disease pathogenesis.
DOI: 10.1016/j.neurobiolaging.2016.07.013
PubMed: 27640074
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<author><name sortKey="Brice, A" sort="Brice, A" uniqKey="Brice A" first="A" last="Brice">A. Brice</name>
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<country xml:lang="fr">France</country>
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<author><name sortKey="Gasser, T" sort="Gasser, T" uniqKey="Gasser T" first="T" last="Gasser">T. Gasser</name>
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<author><name sortKey="Hardy, J" sort="Hardy, J" uniqKey="Hardy J" first="J" last="Hardy">J. Hardy</name>
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<author><name sortKey="Heutink, P" sort="Heutink, P" uniqKey="Heutink P" first="P" last="Heutink">P. Heutink</name>
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<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea>Department of Clinical Genetics, Section of Medical Genomics, VU University Medical Centre, Amsterdam</wicri:regionArea>
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<author><name sortKey="Wood, N M" sort="Wood, N M" uniqKey="Wood N" first="N M" last="Wood">N M Wood</name>
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<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Department of Molecular Neuroscience, UCL Institute of Neurology, London, United Kingdom; UCL Genetics Institute, London</wicri:regionArea>
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<author><name sortKey="Singleton, A B" sort="Singleton, A B" uniqKey="Singleton A" first="A B" last="Singleton">A B Singleton</name>
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<author><name sortKey="Grosset, D G" sort="Grosset, D G" uniqKey="Grosset D" first="D G" last="Grosset">D G Grosset</name>
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<wicri:regionArea>Department of Neurology, Institute of Neurological Sciences, Queen Elizabeth University Hospital, Glasgow</wicri:regionArea>
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<author><name sortKey="Carroll, C B" sort="Carroll, C B" uniqKey="Carroll C" first="C B" last="Carroll">C B Carroll</name>
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<author><name sortKey="Demenais, F" sort="Demenais, F" uniqKey="Demenais F" first="F" last="Demenais">F. Demenais</name>
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<country xml:lang="fr">France</country>
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<author><name sortKey="Iles, M M" sort="Iles, M M" uniqKey="Iles M" first="M M" last="Iles">M M Iles</name>
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<author><name sortKey="Newton Bishop, J" sort="Newton Bishop, J" uniqKey="Newton Bishop J" first="J" last="Newton-Bishop">J. Newton-Bishop</name>
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<author><name sortKey="Williams, N M" sort="Williams, N M" uniqKey="Williams N" first="N M" last="Williams">N M Williams</name>
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<country xml:lang="fr">Royaume-Uni</country>
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<author><name sortKey="Morris, H R" sort="Morris, H R" uniqKey="Morris H" first="H R" last="Morris">H R Morris</name>
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<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Department of Clinical Neuroscience, UCL Institute of Neurology, London</wicri:regionArea>
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<front><div type="abstract" xml:lang="en">A shared genetic susceptibility between cutaneous malignant melanoma (CMM) and Parkinson's disease (PD) has been suggested. We investigated this by assessing the contribution of rare variants in genes involved in CMM to PD risk. We studied rare variation across 29 CMM risk genes using high-quality genotype data in 6875 PD cases and 6065 controls and sought to replicate findings using whole-exome sequencing data from a second independent cohort totaling 1255 PD cases and 473 controls. No statistically significant enrichment of rare variants across all genes, per gene, or for any individual variant was detected in either cohort. There were nonsignificant trends toward different carrier frequencies between PD cases and controls, under different inheritance models, in the following CMM risk genes: BAP1, DCC, ERBB4, KIT, MAPK2, MITF, PTEN, and TP53. The very rare TYR p.V275F variant, which is a pathogenic allele for recessive albinism, was more common in PD cases than controls in 3 independent cohorts. Tyrosinase, encoded by TYR, is the rate-limiting enzyme for the production of neuromelanin, and has a role in the production of dopamine. These results suggest a possible role for another gene in the dopamine-biosynthetic pathway in susceptibility to neurodegenerative Parkinsonism, but further studies in larger PD cohorts are needed to accurately determine the role of these genes/variants in disease pathogenesis.</div>
</front>
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<Abstract><AbstractText NlmCategory="UNASSIGNED">A shared genetic susceptibility between cutaneous malignant melanoma (CMM) and Parkinson's disease (PD) has been suggested. We investigated this by assessing the contribution of rare variants in genes involved in CMM to PD risk. We studied rare variation across 29 CMM risk genes using high-quality genotype data in 6875 PD cases and 6065 controls and sought to replicate findings using whole-exome sequencing data from a second independent cohort totaling 1255 PD cases and 473 controls. No statistically significant enrichment of rare variants across all genes, per gene, or for any individual variant was detected in either cohort. There were nonsignificant trends toward different carrier frequencies between PD cases and controls, under different inheritance models, in the following CMM risk genes: BAP1, DCC, ERBB4, KIT, MAPK2, MITF, PTEN, and TP53. The very rare TYR p.V275F variant, which is a pathogenic allele for recessive albinism, was more common in PD cases than controls in 3 independent cohorts. Tyrosinase, encoded by TYR, is the rate-limiting enzyme for the production of neuromelanin, and has a role in the production of dopamine. These results suggest a possible role for another gene in the dopamine-biosynthetic pathway in susceptibility to neurodegenerative Parkinsonism, but further studies in larger PD cohorts are needed to accurately determine the role of these genes/variants in disease pathogenesis.</AbstractText>
<CopyrightInformation>Copyright © 2016 The Author(s). Published by Elsevier Inc. All rights reserved.</CopyrightInformation>
</Abstract>
<AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Lubbe</LastName>
<ForeName>S J</ForeName>
<Initials>SJ</Initials>
<AffiliationInfo><Affiliation>Department of Clinical Neuroscience, UCL Institute of Neurology, London, United Kingdom.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Escott-Price</LastName>
<ForeName>V</ForeName>
<Initials>V</Initials>
<AffiliationInfo><Affiliation>Institute of Psychological Medicine and Clinical Neurosciences, Medical Research Council Centre for Neuropsychiatric Genetics and Genomics, Department of Psychological Medicine and Neurology, Cardiff University School of Medicine, Cardiff, United Kingdom.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Brice</LastName>
<ForeName>A</ForeName>
<Initials>A</Initials>
<AffiliationInfo><Affiliation>INSERM U 1127, CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle Epinière, ICM, France.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Gasser</LastName>
<ForeName>T</ForeName>
<Initials>T</Initials>
<AffiliationInfo><Affiliation>Department for Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research, and DZNE, German Center for Neurodegenerative Diseases, Tübingen, Germany.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Pittman</LastName>
<ForeName>A M</ForeName>
<Initials>AM</Initials>
<AffiliationInfo><Affiliation>Department of Molecular Neuroscience, UCL Institute of Neurology, London, United Kingdom.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Bras</LastName>
<ForeName>J</ForeName>
<Initials>J</Initials>
<AffiliationInfo><Affiliation>Department of Molecular Neuroscience, UCL Institute of Neurology, London, United Kingdom.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Hardy</LastName>
<ForeName>J</ForeName>
<Initials>J</Initials>
<AffiliationInfo><Affiliation>Department of Molecular Neuroscience, UCL Institute of Neurology, London, United Kingdom.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Heutink</LastName>
<ForeName>P</ForeName>
<Initials>P</Initials>
<AffiliationInfo><Affiliation>Department of Clinical Genetics, Section of Medical Genomics, VU University Medical Centre, Amsterdam, The Netherlands.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Wood</LastName>
<ForeName>N M</ForeName>
<Initials>NM</Initials>
<AffiliationInfo><Affiliation>Department of Molecular Neuroscience, UCL Institute of Neurology, London, United Kingdom; UCL Genetics Institute, London, United Kingdom.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Singleton</LastName>
<ForeName>A B</ForeName>
<Initials>AB</Initials>
<AffiliationInfo><Affiliation>Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD, USA.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Grosset</LastName>
<ForeName>D G</ForeName>
<Initials>DG</Initials>
<AffiliationInfo><Affiliation>Department of Neurology, Institute of Neurological Sciences, Queen Elizabeth University Hospital, Glasgow, United Kingdom.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Carroll</LastName>
<ForeName>C B</ForeName>
<Initials>CB</Initials>
<AffiliationInfo><Affiliation>Plymouth University Peninsula Schools of Medicine and Dentistry, Plymouth, United Kingdom.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Law</LastName>
<ForeName>M H</ForeName>
<Initials>MH</Initials>
<AffiliationInfo><Affiliation>Statistical Genetics, QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Demenais</LastName>
<ForeName>F</ForeName>
<Initials>F</Initials>
<AffiliationInfo><Affiliation>INSERM, UMR 946, Genetic Variation and Human Diseases Unit, Paris, France; Institut Universitaire d'Hématologie, Université Paris Diderot, Sorbonne, Paris, France.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Iles</LastName>
<ForeName>M M</ForeName>
<Initials>MM</Initials>
<AffiliationInfo><Affiliation>Section of Epidemiology and Biostatistics, Leeds Institute of Cancer and Pathology, Leeds, United Kingdom.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><CollectiveName>Melanoma Meta-Analysis Consortium</CollectiveName>
</Author>
<Author ValidYN="Y"><LastName>Bishop</LastName>
<ForeName>D T</ForeName>
<Initials>DT</Initials>
<AffiliationInfo><Affiliation>Section of Epidemiology and Biostatistics, Leeds Institute of Cancer and Pathology, Leeds, United Kingdom.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Newton-Bishop</LastName>
<ForeName>J</ForeName>
<Initials>J</Initials>
<AffiliationInfo><Affiliation>Section of Epidemiology and Biostatistics, Leeds Institute of Cancer and Pathology, Leeds, United Kingdom.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Williams</LastName>
<ForeName>N M</ForeName>
<Initials>NM</Initials>
<AffiliationInfo><Affiliation>Institute of Psychological Medicine and Clinical Neurosciences, Medical Research Council Centre for Neuropsychiatric Genetics and Genomics, Department of Psychological Medicine and Neurology, Cardiff University School of Medicine, Cardiff, United Kingdom.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Morris</LastName>
<ForeName>H R</ForeName>
<Initials>HR</Initials>
<AffiliationInfo><Affiliation>Department of Clinical Neuroscience, UCL Institute of Neurology, London, United Kingdom. Electronic address: h.morris@ucl.ac.uk.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><CollectiveName>International Parkinson's Disease Genomics Consortium</CollectiveName>
</Author>
</AuthorList>
<Language>eng</Language>
<GrantList CompleteYN="Y"><Grant><GrantID>Z01 AG000949</GrantID>
<Acronym>AG</Acronym>
<Agency>NIA NIH HHS</Agency>
<Country>United States</Country>
</Grant>
<Grant><GrantID>R01 CA141668</GrantID>
<Acronym>CA</Acronym>
<Agency>NCI NIH HHS</Agency>
<Country>United States</Country>
</Grant>
<Grant><GrantID>G1100643</GrantID>
<Agency>Medical Research Council</Agency>
<Country>United Kingdom</Country>
</Grant>
<Grant><GrantID>R01 NS037167</GrantID>
<Acronym>NS</Acronym>
<Agency>NINDS NIH HHS</Agency>
<Country>United States</Country>
</Grant>
<Grant><GrantID>Z01 ES101986</GrantID>
<Acronym>ES</Acronym>
<Agency>NIEHS NIH HHS</Agency>
<Country>United States</Country>
</Grant>
<Grant><GrantID>P50 NS071674</GrantID>
<Acronym>NS</Acronym>
<Agency>NINDS NIH HHS</Agency>
<Country>United States</Country>
</Grant>
<Grant><GrantID>G0700943</GrantID>
<Agency>Medical Research Council</Agency>
<Country>United Kingdom</Country>
</Grant>
</GrantList>
<PublicationTypeList><PublicationType UI="">Journal Article</PublicationType>
</PublicationTypeList>
<ArticleDate DateType="Electronic"><Year>2016</Year>
<Month>07</Month>
<Day>28</Day>
</ArticleDate>
</Article>
<MedlineJournalInfo><Country>United States</Country>
<MedlineTA>Neurobiol Aging</MedlineTA>
<NlmUniqueID>8100437</NlmUniqueID>
<ISSNLinking>0197-4580</ISSNLinking>
</MedlineJournalInfo>
<KeywordList Owner="NOTNLM"><Keyword MajorTopicYN="N">Cutaneous malignant melanoma</Keyword>
<Keyword MajorTopicYN="N">Parkinson's</Keyword>
<Keyword MajorTopicYN="N">Pigmentation</Keyword>
<Keyword MajorTopicYN="N">Shared genetic background</Keyword>
<Keyword MajorTopicYN="N">Tyrosinase</Keyword>
</KeywordList>
</MedlineCitation>
<PubmedData><History><PubMedPubDate PubStatus="received"><Year>2016</Year>
<Month>02</Month>
<Day>26</Day>
</PubMedPubDate>
<PubMedPubDate PubStatus="revised"><Year>2016</Year>
<Month>07</Month>
<Day>15</Day>
</PubMedPubDate>
<PubMedPubDate PubStatus="accepted"><Year>2016</Year>
<Month>07</Month>
<Day>20</Day>
</PubMedPubDate>
<PubMedPubDate PubStatus="pubmed"><Year>2016</Year>
<Month>9</Month>
<Day>19</Day>
<Hour>6</Hour>
<Minute>0</Minute>
</PubMedPubDate>
<PubMedPubDate PubStatus="medline"><Year>2016</Year>
<Month>9</Month>
<Day>19</Day>
<Hour>6</Hour>
<Minute>0</Minute>
</PubMedPubDate>
<PubMedPubDate PubStatus="entrez"><Year>2016</Year>
<Month>9</Month>
<Day>19</Day>
<Hour>6</Hour>
<Minute>0</Minute>
</PubMedPubDate>
</History>
<PublicationStatus>ppublish</PublicationStatus>
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<ArticleId IdType="pii">S0197-4580(16)30150-6</ArticleId>
<ArticleId IdType="doi">10.1016/j.neurobiolaging.2016.07.013</ArticleId>
<ArticleId IdType="pmc">PMC5096891</ArticleId>
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