Publication:
The role of the dopamine β-hydroxylase functional polymorphism in patients with early-onset parkinson's disease in the Turkish population

dc.contributor.authorErer, Sevda
dc.contributor.authorEryılmaz, Işıl Ezgi
dc.contributor.authorÇolak, Dilara Kamer
dc.contributor.authorEgeli, Ünal
dc.contributor.authorÇeçener, Gülşah
dc.contributor.authorTunca, Berrin
dc.contributor.authorKarakuş, Ece
dc.contributor.authorÇolakoğlu, Beril
dc.contributor.authorTokçaer, Ayşe Bora
dc.contributor.authorSaka, Esen
dc.contributor.authorDemirkıran, Meltem
dc.contributor.authorAkbostancı, Cenk
dc.contributor.authorZarifoğlu, Mehmet
dc.contributor.authorDoğu, Okan
dc.contributor.authorKaleagasi, Hakan
dc.contributor.authorKenangil, Gülay
dc.contributor.authorÇakmur, Raif
dc.contributor.authorElibol, Bülent
dc.contributor.buuauthorERER ÖZBEK, ÇİĞDEM SEVDA
dc.contributor.buuauthorERYILMAZ, IŞIL EZGİ
dc.contributor.buuauthorÇolak, Dilara Kamer
dc.contributor.buuauthorEGELİ, ÜNAL
dc.contributor.buuauthorÇEÇENER, GÜLŞAH
dc.contributor.buuauthorTUNCA, BERRİN
dc.contributor.buuauthorKarakuş, Ece
dc.contributor.buuauthorZARİFOĞLU, MEHMET
dc.contributor.departmentTıp Fakültesi
dc.contributor.departmentNöroloji Ana Bilim Dalı
dc.contributor.orcid0000-0001-7904-883X
dc.contributor.orcid0000-0002-3316-316X
dc.contributor.orcid0000-0002-2274-3230
dc.contributor.orcid0000-0003-4968-2826
dc.contributor.orcid0000-0002-3820-424X
dc.contributor.orcid0000-0002-1619-6680
dc.contributor.orcid0000-0003-2982-0961
dc.contributor.researcheridGWV-3548-2022
dc.contributor.researcheridAAH-1420-2021
dc.contributor.researcheridDVY-9744-2022
dc.contributor.researcheridJIP-4494-2023
dc.contributor.researcheridAAP-9988-2020
dc.contributor.researcheridABI-6078-2020
dc.contributor.researcheridFDA-2023-2022
dc.contributor.researcheridEHN-5825-2022
dc.date.accessioned2024-06-06T08:28:49Z
dc.date.available2024-06-06T08:28:49Z
dc.date.issued2021-03-01
dc.description.abstractObjective: A functional single nucleotide polymorphism, rs1611115, in the dopamine beta-hydroxylase (DBH) gene, is reported to regulate plasma enzyme activity levels. Mere, we report the first evaluation of this association in patients with early-onset Parkinson's disease (EOPD) and healthy controls in the Turkish population.Materials and Methods: We evaluated the DBH rs1611115 polymorphism in 114 (64 male and 50 female) Turkish patients with EOPD and 58 sex- and age-matched healthy controls from the Turkish population. A total of 27.2% (n=31) of our patients who had any variation including pathogenic or non-pathogenic missense, non-sense and/or intronic variation with unknown significance in EOPD genes were grouped as "variation-positive EOPD". A total of 50.8% (n=58) of our patients were grouped as "variation and family history-negative EOPD" and the possible contribution of the DBH rs1611115 polymorphism to EOPD pathogenesis was evaluated in this group.Results: There was no significant difference in the genotypic and allelic frequencies of DBH rs1611115 between patients with EOPD and controls. To our knowledge, this is the first evaluation of the DBH rs1611115 polymorphism in patients with EOPD and ethnically matched controls in the Turkish population.Conclusion: Some previous studies have reported conflicting association results between DBH rs1611115 polymorphism and PD pathogenesis in different ethnic groups. Therefore, further studies are needed to evaluate dopamine metabolism-related generic variants and to determine their possible roles in EOPD susceptibility in the Turkish population.
dc.identifier.doi10.4274/tnd.2020.80633
dc.identifier.eissn1309-2545
dc.identifier.endpage26
dc.identifier.issn1301-062X
dc.identifier.issue1
dc.identifier.startpage21
dc.identifier.urihttps://doi.org/10.4274/tnd.2020.80633
dc.identifier.urihttps://tjn.org.tr/abstract/212/eng
dc.identifier.urihttps://hdl.handle.net/11452/41820
dc.identifier.volume27
dc.identifier.wos000647578900001
dc.indexed.wosWOS.ESCI
dc.language.isoen
dc.publisherTurkish Neurological Soc
dc.relation.bap2017/39
dc.relation.journalTurkish Journal of Neurology
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi
dc.rightsinfo:eu-repo/semantics/openAccess
dc.subjectEarly-onset parkinson's disease
dc.subjectDopamine beta-hydroxylase (DBH)
dc.subjectPolymorphism
dc.subjectTurkish population
dc.subjectNeurosciences & neurology
dc.titleThe role of the dopamine β-hydroxylase functional polymorphism in patients with early-onset parkinson's disease in the Turkish population
dc.typeArticle
dspace.entity.typePublication
local.contributor.departmentTıp Fakültesi/Nöroloji Ana Bilim Dalı
local.contributor.departmentTıp Fakültesi/Tıbbi Biyoloji Ana Bilim Dalı
local.contributor.departmentTıp Fakültesi
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relation.isAuthorOfPublication.latestForDiscoveryfb9c4353-c7bb-4165-951e-f6153aadc524

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