دورية أكاديمية
Association of the Val66Met polymorphism of the BDNF gene with primary cranial-cervical dystonia patients from South-west China.
العنوان: | Association of the Val66Met polymorphism of the BDNF gene with primary cranial-cervical dystonia patients from South-west China. |
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المؤلفون: | Chen Y; Department of Neurology, West China Hospital, Sichuan University, 610041 Chengdu, Sichuan, China., Song W, Yang J, Chen K, Huang R, Zhao B, Cao B, Burgunder J, Shang HF |
المصدر: | Parkinsonism & related disorders [Parkinsonism Relat Disord] 2013 Nov; Vol. 19 (11), pp. 1043-5. Date of Electronic Publication: 2013 Jun 29. |
نوع المنشور: | Journal Article; Research Support, Non-U.S. Gov't |
اللغة: | English |
بيانات الدورية: | Publisher: Elsevier Science Country of Publication: England NLM ID: 9513583 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1873-5126 (Electronic) Linking ISSN: 13538020 NLM ISO Abbreviation: Parkinsonism Relat Disord Subsets: MEDLINE |
أسماء مطبوعة: | Original Publication: Kidlington, Oxford, U.K. ; Tarrytown, NY : Elsevier Science, c1995- |
مواضيع طبية MeSH: | Genetic Association Studies*/methods, Brain-Derived Neurotrophic Factor/*genetics , Methionine/*genetics , Polymorphism, Single Nucleotide/*genetics , Torticollis/*congenital , Valine/*genetics, Adult ; China/epidemiology ; Dystonia/congenital ; Female ; Humans ; Male ; Middle Aged ; Torticollis/diagnosis ; Torticollis/epidemiology ; Torticollis/genetics ; Young Adult |
مستخلص: | Background: The etiology of primary dystonia remains unclear. Recent genetic studies suggest that the Val66Met polymorphism of the BDNF gene is a genetic modifier in cranial-cervical dystonia in Caucasians. However, the finding is not consistent. Patients and Methods: A total of 193 patients with primary cranial-cervical dystonia from the Department of Neurology, West China Hospital of Sichuan University was included. From the same region, 216 healthy individuals were recruited as a control group. The Val66Met SNP was identified by polymerase chain reaction-restriction fragment length polymorphism. Results: In the present study, cervical dystonia (59.59%) was the most common type of primary cranial-cervical dystonia. No significant difference was found in the genotype and minor allele frequencies between all patients and controls, between cervical dystonia patients and controls, and between craniocervical dystonia patients and controls. However, significant differences were found in the genotype and minor allele frequencies of Val66Met SNP between blepharospasm (BSP) patients and controls (P=0.0080 and P=0.0042, respectively), and between BSP patients and patients with craniocervical derived from BSP (P=0.0010 and P=0.0002, respectively). Conclusion: Minor allele "A" of BDNF Val66Met SNP may increase the risk for developing BSP and may be a protective factor for preventing BSP progressing to craniocervical dystonia. More association studies involving a larger number of participants are needed to confirm the present findings. (Copyright © 2013 Elsevier Ltd. All rights reserved.) |
فهرسة مساهمة: | Keywords: BDNF gene; Primary dystonia; Vel66Met polymorphism |
المشرفين على المادة: | 0 (Brain-Derived Neurotrophic Factor) 7171WSG8A2 (BDNF protein, human) AE28F7PNPL (Methionine) HG18B9YRS7 (Valine) |
SCR Disease Name: | Cervical Dystonia, Primary |
تواريخ الأحداث: | Date Created: 20130703 Date Completed: 20140627 Latest Revision: 20180816 |
رمز التحديث: | 20240628 |
DOI: | 10.1016/j.parkreldis.2013.06.004 |
PMID: | 23816543 |
قاعدة البيانات: | MEDLINE |
تدمد: | 1873-5126 |
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DOI: | 10.1016/j.parkreldis.2013.06.004 |