Re-evaluation of Genetic Variants in Parkinson's Disease Using Targeted Panel and Next-Generation Sequencing

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dc.authorid-en_US
dc.authorid0000-0001-7191-2240en_US
dc.authorid0000-0003-1057-3235en_US
dc.authorscopusid57215598562en_US
dc.authorscopusid56031176400en_US
dc.authorscopusid55595702200en_US
dc.authorwosid-en_US
dc.authorwosid-en_US
dc.authorwosid-en_US
dc.contributor.authorKablan, Ahmet
dc.contributor.authorSılan, Fatma
dc.contributor.authorÖzdemir, Öztürk
dc.date.accessioned2024-01-24T10:34:40Z
dc.date.available2024-01-24T10:34:40Z
dc.date.issued2023en_US
dc.departmentFakülteler, Tıp Fakültesi, Dahili Tıp Bilimleri Bölümü
dc.description.abstractParkinson's disease (PD) is a complex disorder with a significant genetic component. Genetic variations associated with PD play a crucial role in the disease's inheritance and prognosis. Currently, 31 genes have been linked to PD in the OMIM database, and the number of genes and genetic variations identified is steadily increasing. To establish a robust correlation between phenotype and genotype, it is essential to compare research findings with existing literature. In this study, we aimed to identify genetic variants associated with PD using a targeted gene panel with next-generation sequencing (NGS) technology. Our objective was also to explore the idea of re-analyzing genetic variants of unknown significance (VUS). We screened 18 genes known to be related to PD using NGS in 43 patients who visited our outpatient clinic between 2018-2019. After 12-24 months, we re-evaluated the detected variants. We found 14 different heterozygous variants classified as pathogenic, likely pathogenic, or VUS in 14 individuals from nonconsanguineous families. We re-evaluated 15 variants and found changes in their interpretation. Targeted gene panel analysis with NGS can help identify genetic variants associated with PD with confidence. Re-analyzing certain variants at specific time intervals can be especially beneficial in selected situations. Our study aims to expand the clinical and genetic understanding of PD and emphasizes the importance of re-analysis.en_US
dc.identifier.citationKablan, A., Sılan, Fatma, & Ozdemir, O. (2023). Re-evaluation of Genetic Variants in Parkinson’s Disease Using Targeted Panel and Next-Generation Sequencing. Twin Research and Human Genetics, 26(2), 164-170. doi:10.1017/thg.2023.14en_US
dc.identifier.doi10.1017/thg.2023.14
dc.identifier.endpage170en_US
dc.identifier.issn1832-4274
dc.identifier.issn1839-2628
dc.identifier.issue2en_US
dc.identifier.pmid37139776
dc.identifier.scopus2-s2.0-85165520237
dc.identifier.startpage164en_US
dc.identifier.urihttps://doi.org/10.1017/thg.2023.14
dc.identifier.urihttps://hdl.handle.net/20.500.12428/5383
dc.identifier.volume26en_US
dc.identifier.wosWOS:000980225000001
dc.identifier.wosqualityQ4
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakScopus
dc.indekslendigikaynakPubMed
dc.institutionauthorKablan, Ahmet
dc.institutionauthorSılan, Fatma
dc.institutionauthorÖzdemir, Öztürk
dc.language.isoen
dc.publisherCambridge University Pressen_US
dc.relation.ispartofTwin Research and Human Geneticsen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectCanakkale populationen_US
dc.subjectNext generation sequencingen_US
dc.subjectParkinson's diseaseen_US
dc.subjectParkinson's geneticen_US
dc.subjectParkinsonismen_US
dc.subjectReanalysisen_US
dc.titleRe-evaluation of Genetic Variants in Parkinson's Disease Using Targeted Panel and Next-Generation Sequencing
dc.typeArticle

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