Single Nucleotide Polymorphism p.Val66Met in BDNF Gene in the Czech Population


Authors: S. Walczysková 1;  P. Ressner 2;  Š. Hilscherová 1
Authors‘ workplace: Laboratoř DNA diagnostiky, oddělení lékařské genetiky, FN Ostrava 1;  Ambulance pro extrapyramidová onemocněni a kognitivni poruchy, Neurologická klinika, LF OU a FN Ostrava 2
Published in: Cesk Slov Neurol N 2017; 80/113(5): 597-600
Category: Short Communication
doi: https://doi.org/10.14735/amcsnn2017597

Overview

Aim:
To determine the allele frequency of the p.Val66Met (rs6265) polymorphism in BDNF gene (brain-derived neurotrophic factor, BDNF) in the Czech population. The p.Val66Met (rs6265) polymorphism in the BDNF gene is associated with impaired intracellular trafficking and secretion of BDNF. Alterations in BDNF expression and function are involved in different brain disorders and represent a major downstream mechanism for stress response.

Material and methods:
Retrospectively, 317 DNA control samples of Czech individuals aged between 45 and 81 years (173 men and 144 women), were examined for p.Val66Met polymorphism in the BDNF gene using the melting analysis.

Results:
Frequency of the mutant allele (A) was 16.3% and it was 83.7% for the wild type allele (G).

Conclusion:
The requency of the p.Val66Met polymorphism in the BDNF gene in the Czech population was determined.

Key words:
brain-derived neurotrophic factor (BDNF) – single nucleotide polymorphism – genotype – Czech population

The authors declare they have no potential conflicts of interest concerning drugs, products, or services used in the study.

The Editorial Board declares that the manuscript met the ICMJE “uniform requirements” for biomedical papers.


Chinese summary - 摘要

捷克人口BDNF基因的单核苷酸多态性p.Val66Met

目标:

为了确定捷克人口的BDNF基因(脑源性神经营养因子,脑源性神经营养因子)中p.Val66Met(rs6265)多态性的等位基因频率。BDNF基因中的p.Val66Met(rs6265)多态性与受损的细胞内运输和BDNF的分泌有关。BDNF表达和功能的改变涉及不同的脑疾病,并且是应激反应的主要下游机制。

材料和方法:

使用融合分析方法,回顾性分析了317例45〜81岁捷克人(173例男性,144例女性)的DNA对照样本,检测其BDNF基因中的p.Val66Met多态性。

结果:

突变等位基因(A)的频率为16.3%,野生型等位基因(G)为83.7%。

结论:

确定了捷克人口BDNF基因中的p.Val66Met多态性的频率。

关键词:

脑源性神经营养因子(BDNF) - 单核苷酸多态性 - 基因型 - 捷克人口


Sources

1. Duman RS, Menteggia LM. A neurotrophic model for stres­s-related mood disorders. Biol Psychiatry 2006;59:1116– 27.

2. Egan MF, Kojima M, Cal­licott JH, et al. The BDNF val66met Polymorphism Af­fects Activity-Dependent Secretion of BDNF and Human Memory and Hippocampal Function. Cell 2003;112:257– 69.

3. Begni V, Riva MA, Cattaneo A. Cel­lular and molecular mechanisms of the brain-derived neurotrophic factor in physiological and pathological conditions. Clin Sci (Lond) 2016;131(2):123– 138. doi: 10.1042/ CS20160009.

4. Pan W, Banks WA, Fasold MB, et al. Transport of brain-derived neurotrophic factor Gross the blood-brain bar­rier. Neuropharmacology 1998;37(12):1553– 61.

5. Chen SL, Lee SY, Chang YH, et al. The BDNF Val66Met polymorphism and plasma brain-derived neurotroph­-ic factor levels in Han Chinese patients with bipolar disorder and schizophrenia. Prog Neuropsychopharmacol Biol Psychiatry 2014;51:99– 104. doi: 10.1016/ j.pnpbp.2014.01.012.

6. Mandelman SD, Grigorenko EL. BDNF Val66Met and cognition: al­l, none, or some? A meta-analysis of the genetic as­sociation. Genes Brain Behav 2012;11(2):127– 36. doi: 10.1111/ j.1601-183X.2011.00738.x.

7. Coskun S, Varol S, Ozdemir HH, et al. As­sociation of brain-derived neurotrophic factor and nerve growth factor gene polymorphisms with susceptibility to migraine. Neuropsychiatr Dis Treat 2016;19(12):1779– 85. doi: 10.2147/ NDT.S108814.

8. Jin T, Zhang H, Yang Q, et al. The relationship between polymorphisms of BDNFOS and BDNF genes and heroin addiction in the Han Chinese population. J Gene Med 2016;18(10):288– 293. doi: 10.1002/ jgm.2927.

9. Chen K, Wang N, Zhang J, et al. Is the Val66Met polymorphism of the brain-derived neurotrophic factor gene as­sociated with panic disorder? A meta-analysis. Asia Pac Psychiatry 2015;9(2):e12228. doi:10.1111/ appy.12228.

10. Bruenig D, Lurie J, Mor­ris CP, et al. A Case-Control Study and Meta-Analysis Reveal BDNF Val66MetIs a Pos­sible Risk Factor for PTSD. Neural Plast 2016;2016:6979435. doi: 10.1155/ 2016/ 6979435.

11. Morales-Marín ME, Genis-Mendoza AD, Tovil­la-Zarate CA, et al. As­sociation between obesity and the brain-derived neurotrophic factor gene polymorphism Val66Met in individuals with bipolar disorder in Mexican population. Neuropsychiatr Dis Treat 2016;25(12):1843– 8. doi: 10.2147/ NDT.S104654.

12. Lang UE, Hel­lweg R, Sander T, et al. The Met al­lele of the BDNF Val66Met polymorphism is as­sociated with increased BDNF serum concentrations. Mol Psychiatry 2009;14(2):120– 2. doi: 10.1038/ mp.2008.80.

13. Bus BA, Moledijk ML, Tendolkar I, et al. Chronic depres­sion is as­sociated with a pronounced decrease in serum brain-derived neurotrophic factor over time. Mol Psychiatry 2015;20(5):602– 8. doi:10.1038/ mp.2014.83.

14. Ihara K, Yoshida H, Jones PB, et al. Serum BDNF levels before and after the development of mood disorders: a case- control study in a population kohort. Transl Psychiatry 2016;6:e782. doi: 10.1038/ tp.2016.47.

15. Zhang L, Li X, Hu XZ. Post-traumatic stress disorder risk and brain-derived neurotrophic factor Val66Met. World J Psychiatr 2016;6(1):1– 6. doi:10.5498/ wjp.v6.i1.1

16. Pivac N, Nikolac M, Nedic M, et al. Brain derived neurotrophic factor Val66Met polymorphism and psychotic symp­toms in Alzheimer‘s disease. Prog Neuropsychopharmacol Biol Psychiatry 2011;35(2):356– 62.

17. Zhang H, Ozbay F, Lappalainen J, et al. Brain derived neurotrophic factor (BDNF) gene variants and Alzheimer’s disease, af­fective disorders, posttraumatic stress disorder, schizophrenia, and substance dependence. Am J Med Genet B Neuropsychiatr Genet 2006;141B:387– 93. doi: 10.1002/ ajmg.b.30332.

18. Elfv­ing B, Buttenschøn HN, Foldager L, et al. Depres­sion, the Val66Met polymorphism, age, and gender influence the serum BDNF level. J Psychiatr Res 2012;46(9):1118– 25. doi: 10.1016/ j.jpsychires.2012.05.003.

19. Petryshen TL, Sabetti PC, Aldinger KA, et al. Population genetic study of the brain-derived neurotrophic factor (BDNF) gene. Mol Psychiatry 2010;15(8):810– 15. doi: 10.1038/ mp.2009.24.

20. Wiłkość M, Szałkowska A, Skibińska M, et al. BDNF gene polymorphisms and haplotypes in relation to cognitive performance in Polish healthy subjects. Acta Neurobio­l Exp 2016;76:43– 52.

21. van den Heuvel L, Suliman S, Malan-Mül­ler S, et al. Brain-derived neurotrophic factor (BDNF) Val66Met polymorphism and plasma levels in road tradic akcident survivors. Anxiety Stress Coping 2016;29(6):616-29. doi:10.1080/ 10615806.2016.1163545.

22. Chen SL, Lee SY, Chang YH, et al. The BDNF Val66Met polymorphism and plasma brain-derived neurotrophic factor levels in Han Chinese heroin-dependent patiens. Sci Rep 2015;5:8148. doi: 10.1038/ srep08148.

23. Col­le R, Defles­sel­le E, Martin S, et al. BDNF/ TRKB/  P75NTR polymorphisms and their consequences on antidepres­sant ef­ficacy in depres­sed patients. Pharmacogenomics 2015;16(9):997– 1013. doi: 10.2217/ pgs.15.56.

24. Nectoux J, Bahi-Buis­son N, Guel­lec I, et al. The p.Val66Met polymorphism in the BDNF gene protects against early seizures in Rett syndrome. Neurology 2008;70(22):2145– 51. doi: 10.1212/ 01.wnl.0000304086.75913.b2.

Labels
Paediatric neurology Neurosurgery Neurology

Article was published in

Czech and Slovak Neurology and Neurosurgery

Issue 5

2017 Issue 5

Most read in this issue
Login
Forgotten password

Enter the email address that you registered with. We will send you instructions on how to set a new password.

Login

Don‘t have an account?  Create new account