The rs13388259 Intergenic Polymorphism in the Genomic Context of the BCYRN1 Gene Is Associated with Parkinson’s Disease in the Hungarian Population
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 polymor...
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| Format: | Article |
| Language: | English |
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Hindawi Limited
2018-01-01
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| Series: | Parkinson's Disease |
| Online Access: | http://dx.doi.org/10.1155/2018/9351598 |
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doaj-3b02571593bc44f7a52e03b3feeefaa52020-11-25T00:43:25ZengHindawi LimitedParkinson's Disease2090-80832042-00802018-01-01201810.1155/2018/93515989351598The rs13388259 Intergenic Polymorphism in the Genomic Context of the BCYRN1 Gene Is Associated with Parkinson’s Disease in the Hungarian PopulationSándor Márki0Anikó Göblös1Eszter Szlávicz2Nóra Török3Péter Balicza4Benjamin Bereznai5Annamária Takáts6József Engelhardt7Péter Klivényi8László Vécsei9Mária Judit Molnár10Nikoletta Nagy11Márta Széll12Department of Medical Genetics, University of Szeged, Somogyi u. 4, 6720 Szeged, HungaryDepartment of Dermatology and Allergology, University of Szeged, Korányi fasor 6, 6720 Szeged, HungaryDepartment of Dermatology and Allergology, University of Szeged, Korányi fasor 6, 6720 Szeged, HungaryDepartment of Neurology, University of Szeged, Semmelweis u. 6, 6725 Szeged, HungaryInstitute of Genomic Medicine and Rare Disorders, Semmelweis University, Tömő u. 25-29, 1083 Budapest, HungaryInstitute of Genomic Medicine and Rare Disorders, Semmelweis University, Tömő u. 25-29, 1083 Budapest, HungaryDepartment of Neurology, Semmelweis University, VIII. Balassa J. u. 6, 1083 Budapest, HungaryDepartment of Neurology, University of Szeged, Semmelweis u. 6, 6725 Szeged, HungaryDepartment of Neurology, University of Szeged, Semmelweis u. 6, 6725 Szeged, HungaryDepartment of Neurology, University of Szeged, Semmelweis u. 6, 6725 Szeged, HungaryInstitute of Genomic Medicine and Rare Disorders, Semmelweis University, Tömő u. 25-29, 1083 Budapest, HungaryDepartment of Medical Genetics, University of Szeged, Somogyi u. 4, 6720 Szeged, HungaryDepartment of Medical Genetics, University of Szeged, Somogyi u. 4, 6720 Szeged, HungaryParkinson’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 PINK1-AS, UCHL1-AS, BCYRN1, SOX2-OT, ANRIL and HAR1A 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 BCYRN1 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 BCYRN1.http://dx.doi.org/10.1155/2018/9351598 |
| collection |
DOAJ |
| language |
English |
| format |
Article |
| sources |
DOAJ |
| author |
Sándor Márki Anikó Göblös Eszter Szlávicz Nóra Török Péter Balicza Benjamin Bereznai Annamária Takáts József Engelhardt Péter Klivényi László Vécsei Mária Judit Molnár Nikoletta Nagy Márta Széll |
| spellingShingle |
Sándor Márki Anikó Göblös Eszter Szlávicz Nóra Török Péter Balicza Benjamin Bereznai Annamária Takáts József Engelhardt Péter Klivényi László Vécsei Mária Judit Molnár Nikoletta Nagy Márta Széll The rs13388259 Intergenic Polymorphism in the Genomic Context of the BCYRN1 Gene Is Associated with Parkinson’s Disease in the Hungarian Population Parkinson's Disease |
| author_facet |
Sándor Márki Anikó Göblös Eszter Szlávicz Nóra Török Péter Balicza Benjamin Bereznai Annamária Takáts József Engelhardt Péter Klivényi László Vécsei Mária Judit Molnár Nikoletta Nagy Márta Széll |
| author_sort |
Sándor Márki |
| title |
The rs13388259 Intergenic Polymorphism in the Genomic Context of the BCYRN1 Gene Is Associated with Parkinson’s Disease in the Hungarian Population |
| title_short |
The rs13388259 Intergenic Polymorphism in the Genomic Context of the BCYRN1 Gene Is Associated with Parkinson’s Disease in the Hungarian Population |
| title_full |
The rs13388259 Intergenic Polymorphism in the Genomic Context of the BCYRN1 Gene Is Associated with Parkinson’s Disease in the Hungarian Population |
| title_fullStr |
The rs13388259 Intergenic Polymorphism in the Genomic Context of the BCYRN1 Gene Is Associated with Parkinson’s Disease in the Hungarian Population |
| title_full_unstemmed |
The rs13388259 Intergenic Polymorphism in the Genomic Context of the BCYRN1 Gene Is Associated with Parkinson’s Disease in the Hungarian Population |
| title_sort |
rs13388259 intergenic polymorphism in the genomic context of the bcyrn1 gene is associated with parkinson’s disease in the hungarian population |
| publisher |
Hindawi Limited |
| series |
Parkinson's Disease |
| issn |
2090-8083 2042-0080 |
| publishDate |
2018-01-01 |
| description |
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 PINK1-AS, UCHL1-AS, BCYRN1, SOX2-OT, ANRIL and HAR1A 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 BCYRN1 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 BCYRN1. |
| url |
http://dx.doi.org/10.1155/2018/9351598 |
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