The Role of the Dopamine β-hydroxylase Functional Polymorphism in Patients with Early-Onset Parkinson’s Disease in the Turkish Population

Yıl: 2021 Cilt: 27 Sayı: 1 Sayfa Aralığı: 21 - 26 Metin Dili: İngilizce DOI: 10.4274/tnd.2020.80633 İndeks Tarihi: 24-01-2022

The Role of the Dopamine β-hydroxylase Functional Polymorphism in Patients with Early-Onset Parkinson’s Disease in the Turkish Population

Öz:
Objective: A functional single nucleotide polymorphism, rs1611115, in the dopamine β-hydroxylase (DBH) gene, is reported to regulate plasma enzyme activity levels. Here, 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 agematched 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 genetic variants and to determine their possible roles in EOPD susceptibility in the Turkish population.
Anahtar Kelime:

Türk Popülasyonundaki Erken Başlangıçlı Parkinson Hastalarında Dopamin β-hidroksilaz Fonksiyonel Polimorfizminin Rolü

Öz:
Amaç: Dopamin β-hidroksilaz (DBH) genindeki fonksiyonel rs1611115 tek nükleotid polimorfizminin enzimin plazma aktivite seviyesini düzenlediği bildirilmektedir. Mevcut çalışmada, Türk popülasyonundaki erken başlangıçlı Parkinson hastalarında (EBPH) ve sağlıklı kontrollerde bu ilişkinin ilk değerlendirmesini sunmaktayız. Gereç ve Yöntem: Türk popülasyonundan 114 (64 erkek ve 50 kadın) EBPH hastasında ve 58 cinsiyet ve yaş uyumlu sağlıklı kontrolde DBH rs1611115 polimorfizmini değerlendirdik. EBPH genlerinde patojenik veya patojenik olmayan yanlış anlamlı, anlamsız ve/veya intronik herhangi bir varyasyona sahip olan hastalarımız (%27,2; n=31) “varyasyon pozitif EBPH hastası” olarak gruplandırıldı. Hastalarımızın %50,8’i (n=58) ise “varyasyon ve aile öyküsü negatif EBPH hastaları” olarak gruplandırıldı ve DBH rs1611115 polimorfizminin EBPH patogenezine olası katkısı bu grupta değerlendirildi. Bulgular: EBPH hastaları ve sağlıklı kontroller arasında DBH rs1611115 polimorfizminin genotipik ve allelik frekanslarında anlamlı bir fark bulunmadı. Bildiğimiz kadarıyla bu sonuç, Türk popülasyonunda EBPH hastalarında ve etnik olarak eşleştirilmiş sağlıklı kontrollerde DBH rs1611115 polimorfizminin ilk değerlendirmesidir. Sonuç: Önceki bazı çalışmalar, farklı etnik gruplarda DBH rs1611115 polimorfizmi ve PH patogenezi arasında çelişkili ilişki sonuçları olduğunu bildirmiştir. Diğer taraftan, Türk popülasyonunda dopamin metabolizması ile ilişkili genetik varyantları değerlendirmek ve EBPH duyarlılığında olası rollerini belirlemek için daha fazla çalışmaya ihtiyaç vardır.
Anahtar Kelime:

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APA Erer S, Eryilmaz I, ÇOLAK D, Egeli U, Cecener G, Tunca B, Karakus E, Dönmez Çolakoğlu B, BORA TOKCAER A, Saka Topçuoğlu E, DEMIRKIRAN D, Akbostanci M, Zarifoglu M, DOGU O, KALEAĞASI H, Kenangil G, çakmur r, Elibol B (2021). The Role of the Dopamine β-hydroxylase Functional Polymorphism in Patients with Early-Onset Parkinson’s Disease in the Turkish Population. , 21 - 26. 10.4274/tnd.2020.80633
Chicago Erer Sevda,Eryilmaz Isil Ezgi,ÇOLAK Dilara Kamer,Egeli Unal,Cecener Gulsah,Tunca Berrin,Karakus Ece,Dönmez Çolakoğlu Berril,BORA TOKCAER Ayse,Saka Topçuoğlu Esen,DEMIRKIRAN DURUHAN MELTEM,Akbostanci Muhittin Cenk,Zarifoglu Mehmet,DOGU OKAN,KALEAĞASI Hakan,Kenangil Gulay,çakmur raif,Elibol Bulent The Role of the Dopamine β-hydroxylase Functional Polymorphism in Patients with Early-Onset Parkinson’s Disease in the Turkish Population. (2021): 21 - 26. 10.4274/tnd.2020.80633
MLA Erer Sevda,Eryilmaz Isil Ezgi,ÇOLAK Dilara Kamer,Egeli Unal,Cecener Gulsah,Tunca Berrin,Karakus Ece,Dönmez Çolakoğlu Berril,BORA TOKCAER Ayse,Saka Topçuoğlu Esen,DEMIRKIRAN DURUHAN MELTEM,Akbostanci Muhittin Cenk,Zarifoglu Mehmet,DOGU OKAN,KALEAĞASI Hakan,Kenangil Gulay,çakmur raif,Elibol Bulent The Role of the Dopamine β-hydroxylase Functional Polymorphism in Patients with Early-Onset Parkinson’s Disease in the Turkish Population. , 2021, ss.21 - 26. 10.4274/tnd.2020.80633
AMA Erer S,Eryilmaz I,ÇOLAK D,Egeli U,Cecener G,Tunca B,Karakus E,Dönmez Çolakoğlu B,BORA TOKCAER A,Saka Topçuoğlu E,DEMIRKIRAN D,Akbostanci M,Zarifoglu M,DOGU O,KALEAĞASI H,Kenangil G,çakmur r,Elibol B The Role of the Dopamine β-hydroxylase Functional Polymorphism in Patients with Early-Onset Parkinson’s Disease in the Turkish Population. . 2021; 21 - 26. 10.4274/tnd.2020.80633
Vancouver Erer S,Eryilmaz I,ÇOLAK D,Egeli U,Cecener G,Tunca B,Karakus E,Dönmez Çolakoğlu B,BORA TOKCAER A,Saka Topçuoğlu E,DEMIRKIRAN D,Akbostanci M,Zarifoglu M,DOGU O,KALEAĞASI H,Kenangil G,çakmur r,Elibol B The Role of the Dopamine β-hydroxylase Functional Polymorphism in Patients with Early-Onset Parkinson’s Disease in the Turkish Population. . 2021; 21 - 26. 10.4274/tnd.2020.80633
IEEE Erer S,Eryilmaz I,ÇOLAK D,Egeli U,Cecener G,Tunca B,Karakus E,Dönmez Çolakoğlu B,BORA TOKCAER A,Saka Topçuoğlu E,DEMIRKIRAN D,Akbostanci M,Zarifoglu M,DOGU O,KALEAĞASI H,Kenangil G,çakmur r,Elibol B "The Role of the Dopamine β-hydroxylase Functional Polymorphism in Patients with Early-Onset Parkinson’s Disease in the Turkish Population." , ss.21 - 26, 2021. 10.4274/tnd.2020.80633
ISNAD Erer, Sevda vd. "The Role of the Dopamine β-hydroxylase Functional Polymorphism in Patients with Early-Onset Parkinson’s Disease in the Turkish Population". (2021), 21-26. https://doi.org/10.4274/tnd.2020.80633
APA Erer S, Eryilmaz I, ÇOLAK D, Egeli U, Cecener G, Tunca B, Karakus E, Dönmez Çolakoğlu B, BORA TOKCAER A, Saka Topçuoğlu E, DEMIRKIRAN D, Akbostanci M, Zarifoglu M, DOGU O, KALEAĞASI H, Kenangil G, çakmur r, Elibol B (2021). The Role of the Dopamine β-hydroxylase Functional Polymorphism in Patients with Early-Onset Parkinson’s Disease in the Turkish Population. Türk Nöroloji Dergisi, 27(1), 21 - 26. 10.4274/tnd.2020.80633
Chicago Erer Sevda,Eryilmaz Isil Ezgi,ÇOLAK Dilara Kamer,Egeli Unal,Cecener Gulsah,Tunca Berrin,Karakus Ece,Dönmez Çolakoğlu Berril,BORA TOKCAER Ayse,Saka Topçuoğlu Esen,DEMIRKIRAN DURUHAN MELTEM,Akbostanci Muhittin Cenk,Zarifoglu Mehmet,DOGU OKAN,KALEAĞASI Hakan,Kenangil Gulay,çakmur raif,Elibol Bulent The Role of the Dopamine β-hydroxylase Functional Polymorphism in Patients with Early-Onset Parkinson’s Disease in the Turkish Population. Türk Nöroloji Dergisi 27, no.1 (2021): 21 - 26. 10.4274/tnd.2020.80633
MLA Erer Sevda,Eryilmaz Isil Ezgi,ÇOLAK Dilara Kamer,Egeli Unal,Cecener Gulsah,Tunca Berrin,Karakus Ece,Dönmez Çolakoğlu Berril,BORA TOKCAER Ayse,Saka Topçuoğlu Esen,DEMIRKIRAN DURUHAN MELTEM,Akbostanci Muhittin Cenk,Zarifoglu Mehmet,DOGU OKAN,KALEAĞASI Hakan,Kenangil Gulay,çakmur raif,Elibol Bulent The Role of the Dopamine β-hydroxylase Functional Polymorphism in Patients with Early-Onset Parkinson’s Disease in the Turkish Population. Türk Nöroloji Dergisi, vol.27, no.1, 2021, ss.21 - 26. 10.4274/tnd.2020.80633
AMA Erer S,Eryilmaz I,ÇOLAK D,Egeli U,Cecener G,Tunca B,Karakus E,Dönmez Çolakoğlu B,BORA TOKCAER A,Saka Topçuoğlu E,DEMIRKIRAN D,Akbostanci M,Zarifoglu M,DOGU O,KALEAĞASI H,Kenangil G,çakmur r,Elibol B The Role of the Dopamine β-hydroxylase Functional Polymorphism in Patients with Early-Onset Parkinson’s Disease in the Turkish Population. Türk Nöroloji Dergisi. 2021; 27(1): 21 - 26. 10.4274/tnd.2020.80633
Vancouver Erer S,Eryilmaz I,ÇOLAK D,Egeli U,Cecener G,Tunca B,Karakus E,Dönmez Çolakoğlu B,BORA TOKCAER A,Saka Topçuoğlu E,DEMIRKIRAN D,Akbostanci M,Zarifoglu M,DOGU O,KALEAĞASI H,Kenangil G,çakmur r,Elibol B The Role of the Dopamine β-hydroxylase Functional Polymorphism in Patients with Early-Onset Parkinson’s Disease in the Turkish Population. Türk Nöroloji Dergisi. 2021; 27(1): 21 - 26. 10.4274/tnd.2020.80633
IEEE Erer S,Eryilmaz I,ÇOLAK D,Egeli U,Cecener G,Tunca B,Karakus E,Dönmez Çolakoğlu B,BORA TOKCAER A,Saka Topçuoğlu E,DEMIRKIRAN D,Akbostanci M,Zarifoglu M,DOGU O,KALEAĞASI H,Kenangil G,çakmur r,Elibol B "The Role of the Dopamine β-hydroxylase Functional Polymorphism in Patients with Early-Onset Parkinson’s Disease in the Turkish Population." Türk Nöroloji Dergisi, 27, ss.21 - 26, 2021. 10.4274/tnd.2020.80633
ISNAD Erer, Sevda vd. "The Role of the Dopamine β-hydroxylase Functional Polymorphism in Patients with Early-Onset Parkinson’s Disease in the Turkish Population". Türk Nöroloji Dergisi 27/1 (2021), 21-26. https://doi.org/10.4274/tnd.2020.80633