Gene-Environment Interactions in Progressive Supranuclear Palsy
Several genetic and environmental factors have been reported in progressive supranuclear palsy (PSP), although none were identified as a definitive cause. We aimed to explore potential gene-environment interactions in PSP. Two hundred and ninety two PSP cases and 292 controls matched for age, sex, a...
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| Format: | Article |
| Language: | English |
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Frontiers Media S.A.
2021-04-01
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| Series: | Frontiers in Neurology |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fneur.2021.664796/full |
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| author | Irene Litvan James A. Proudfoot Eden R. Martin David Standaert David Riley Deborah Hall Connie Marras Ece Bayram Richard M. Dubinsky Yvette Bordelon Stephen Reich David Shprecher David Shprecher Benzi Kluger Christopher Cunningham Gerard D. Schellenberg Joseph Jankovic |
| author_facet | Irene Litvan James A. Proudfoot Eden R. Martin David Standaert David Riley Deborah Hall Connie Marras Ece Bayram Richard M. Dubinsky Yvette Bordelon Stephen Reich David Shprecher David Shprecher Benzi Kluger Christopher Cunningham Gerard D. Schellenberg Joseph Jankovic |
| author_sort | Irene Litvan |
| collection | DOAJ |
| description | Several genetic and environmental factors have been reported in progressive supranuclear palsy (PSP), although none were identified as a definitive cause. We aimed to explore potential gene-environment interactions in PSP. Two hundred and ninety two PSP cases and 292 controls matched for age, sex, and race from the ENGENE-PSP were analyzed to determine the association between PSP and minor alleles of 5 single nucleotide polymorphisms (SNPs) in 4 genes (MAPT, MOBP, EIF2AK3, and STX6), which were previously associated with PSP risk. Interactions between these SNPs and environmental factors, including previously reported occupational and agricultural risk factors for PSP, were assessed for PSP odds and age of symptom onset. Minor alleles of MAPTrs242557 and EIF2AK3rs7571971 were individually associated with increased odds; MAPTrs8070723 minor alleles were associated with lower PSP odds. There were several gene-environment interactions for PSP odds and age of symptom onset, however, they did not remain significant after FDR-correction. Larger scale studies are required to determine potential interactions. |
| first_indexed | 2024-12-16T12:15:06Z |
| format | Article |
| id | doaj.art-447dcea0aa3e41f9a0cca7706089ca6a |
| institution | Directory Open Access Journal |
| issn | 1664-2295 |
| language | English |
| last_indexed | 2024-12-16T12:15:06Z |
| publishDate | 2021-04-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Neurology |
| spelling | doaj.art-447dcea0aa3e41f9a0cca7706089ca6a2022-12-21T22:32:08ZengFrontiers Media S.A.Frontiers in Neurology1664-22952021-04-011210.3389/fneur.2021.664796664796Gene-Environment Interactions in Progressive Supranuclear PalsyIrene Litvan0James A. Proudfoot1Eden R. Martin2David Standaert3David Riley4Deborah Hall5Connie Marras6Ece Bayram7Richard M. Dubinsky8Yvette Bordelon9Stephen Reich10David Shprecher11David Shprecher12Benzi Kluger13Christopher Cunningham14Gerard D. Schellenberg15Joseph Jankovic16Department of Neurosciences, Parkinson and Other Movement Disorders Center, University of California, San Diego, La Jolla, CA, United StatesClinical and Translational Research Institute, University of California, San Diego, La Jolla, CA, United StatesJohn P. Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami, Miami, FL, United StatesDepartment of Neurology, University of Alabama at Birmingham, Birmingham, AL, United StatesInMotion, Warrensville Heights, OH, United StatesDepartment of Neurological Sciences, Rush University, Chicago, IL, United StatesMorto and Gloria Shulman Movement Disorders Centre and the Edmond J. Safra Program in Parkinson's Research, Toronto Western Hospital, University of Toronto, Toronto, ON, CanadaDepartment of Neurosciences, Parkinson and Other Movement Disorders Center, University of California, San Diego, La Jolla, CA, United StatesDepartment of General Neurology, University of Kansas Medical Center, Kansas City, KS, United StatesDepartment of Neurology, University of California, Los Angeles, Los Angeles, CA, United States0Department of Neurology, University of Maryland School of Medicine, Baltimore, MD, United States1Banner Sun Health Research Institute, Sun City, AZ, United States2Department of Neurology, University of Utah, Salt City, UT, United States3Department of Neurology, University of Colorado, Denver, CO, United States4Division of Movement Disorders, Department of Neurology, University of Louisville School of Medicine, Louisville, KY, United States5Department of Pathology and Laboratory Medicine, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, United States6Parkinson's Disease Center and Movement Disorders Clinic, Department of Neurology, Baylor College of Medicine, Houston, TX, United StatesSeveral genetic and environmental factors have been reported in progressive supranuclear palsy (PSP), although none were identified as a definitive cause. We aimed to explore potential gene-environment interactions in PSP. Two hundred and ninety two PSP cases and 292 controls matched for age, sex, and race from the ENGENE-PSP were analyzed to determine the association between PSP and minor alleles of 5 single nucleotide polymorphisms (SNPs) in 4 genes (MAPT, MOBP, EIF2AK3, and STX6), which were previously associated with PSP risk. Interactions between these SNPs and environmental factors, including previously reported occupational and agricultural risk factors for PSP, were assessed for PSP odds and age of symptom onset. Minor alleles of MAPTrs242557 and EIF2AK3rs7571971 were individually associated with increased odds; MAPTrs8070723 minor alleles were associated with lower PSP odds. There were several gene-environment interactions for PSP odds and age of symptom onset, however, they did not remain significant after FDR-correction. Larger scale studies are required to determine potential interactions.https://www.frontiersin.org/articles/10.3389/fneur.2021.664796/fullprogressive supranuclear palsygeneenvironmentepidemiologyrisk factors |
| spellingShingle | Irene Litvan James A. Proudfoot Eden R. Martin David Standaert David Riley Deborah Hall Connie Marras Ece Bayram Richard M. Dubinsky Yvette Bordelon Stephen Reich David Shprecher David Shprecher Benzi Kluger Christopher Cunningham Gerard D. Schellenberg Joseph Jankovic Gene-Environment Interactions in Progressive Supranuclear Palsy Frontiers in Neurology progressive supranuclear palsy gene environment epidemiology risk factors |
| title | Gene-Environment Interactions in Progressive Supranuclear Palsy |
| title_full | Gene-Environment Interactions in Progressive Supranuclear Palsy |
| title_fullStr | Gene-Environment Interactions in Progressive Supranuclear Palsy |
| title_full_unstemmed | Gene-Environment Interactions in Progressive Supranuclear Palsy |
| title_short | Gene-Environment Interactions in Progressive Supranuclear Palsy |
| title_sort | gene environment interactions in progressive supranuclear palsy |
| topic | progressive supranuclear palsy gene environment epidemiology risk factors |
| url | https://www.frontiersin.org/articles/10.3389/fneur.2021.664796/full |
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