TY  - JOUR
TI  - The Role of the Dopamine β-hydroxylase Functional Polymorphism in Patients with Early-Onset Parkinson’s Disease in the Turkish Population
AB  - 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.
AU  - Akbostanci, Muhittin Cenk
AU  - Kenangil, Gulay
AU  - Erer, Sevda
AU  - Zarifoglu, Mehmet
AU  - Egeli, Unal
AU  - DEMIRKIRAN, DURUHAN MELTEM
AU  - çakmur, raif
AU  - Saka Topçuoğlu, Esen
AU  - Elibol, Bulent
AU  - KALEAĞASI, Hakan
AU  - DOGU, OKAN
AU  - Dönmez Çolakoğlu, Berril
AU  - Cecener, Gulsah
AU  - ÇOLAK, Dilara Kamer
AU  - Karakus, Ece
AU  - Tunca, Berrin
AU  - Eryilmaz, Isil Ezgi
AU  - BORA TOKCAER, Ayse
DO  - 10.4274/tnd.2020.80633
PY  - 2021
JO  - Türk Nöroloji Dergisi
VL  - 27
IS  - 1
SN  - 1301-062X
SP  - 21
EP  - 26
DB  - TRDizin
UR  - http://search/yayin/detay/484817
ER  -