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- Title
The rs13388259 Intergenic Polymorphism in the Genomic Context of the BCYRN1 Gene Is Associated with Parkinson’s Disease in the Hungarian Population.
- Authors
Márki, Sándor; Göblös, Anikó; Szlávicz, Eszter; Török, Nóra; Balicza, Péter; Bereznai, Benjamin; Takáts, Annamária; Engelhardt, József; Klivényi, Péter; Vécsei, László; Molnár, Mária Judit; Nagy, Nikoletta; Széll, Márta
- Abstract
Parkinson’s disease (PD) is a common neurodegenerative disorder characterized by bradykinesia, resting tremor, and muscle rigidity. To date, approximately 50 genes have been implicated in PD pathogenesis, including both Mendelian genes with rare mutations and low-penetrance genes with common polymorphisms. Previous studies of low-penetrance genes focused on protein-coding genes, and less attention was given to long noncoding RNAs (lncRNAs). In this study, we aimed to investigate the susceptibility roles of lncRNA gene polymorphisms in the development of PD. Therefore, polymorphisms (n=15) of the <italic>PINK1-AS</italic>, <italic>UCHL1-AS</italic>, <italic>BCYRN1</italic>, <italic>SOX2-OT</italic>, <italic>ANRIL</italic> and <italic>HAR1A</italic> lncRNAs genes were genotyped in Hungarian PD patients (n=160) and age- and sex-matched controls (n=167). The rare allele of the rs13388259 intergenic polymorphism, located downstream of the <italic>BCYRN1</italic> gene, was significantly more frequent among PD patients than control individuals (OR = 2.31; p=0.0015). In silico prediction suggested that this polymorphism is located in a noncoding region close to the binding site of the transcription factor HNF4A, which is a central regulatory hub gene that has been shown to be upregulated in the peripheral blood of PD patients. The rs13388259 polymorphism may interfere with the binding affinity of transcription factor HNF4A, potentially resulting in abnormal expression of target genes, such as <italic>BCYRN1</italic>.
- Subjects
HUNGARY; ALLELES; FISHER exact test; GENES; GENETIC polymorphisms; PARKINSON'S disease; TRANSCRIPTION factors; GENOMICS; CASE-control method; ODDS ratio; GENOTYPES
- Publication
Parkinson's Disease (20420080), 2018, p1
- ISSN
2090-8083
- Publication type
Article
- DOI
10.1155/2018/9351598