Association of DRD2 Gene C957T Polymorphism with Stuttering in Turkish Population

Öz

This study aims to evaluate the association of DRD2 gene C957T polymorphism with stuttering within Turkish children who stutter. The sample of the study included 121 children between the ages of 5-16, 44 children with stuttering and 77 typically developing children. The genomic DNA’s were extracted from the saliva of the individuals. The genotyping of DRD2 C957T was carried out using polymerase chain reaction-restriction fragment length polymorphism. The relationship between genotypes and stuttering was examined through logistic regression analysis. In the study, it was determined that distributions of allele frequencies and the DRD2 gene C957T polymorphism were not significantly different from the control group (OR 0.762; CI 0.458-1.267, p=0.304). The genotype distributions of the DRD2 gene were estimated for CT (OR 1.103; CI 0.443-2.743, p=0.833) and TT (OR 0.868; CI 0.306-2.461; P=0.791). The genotype distributions of DRD2 C957T polymorphism were not statistically significant for additive, dominant, recessive, and codominant models between study groups. As a result, the polymorphic feature of the alleles and genotypes for the DRD2 gene C957T in Turkish children who stutter were analyzed, and it was detected that the differences between CWS and CWNS groups were not significant.Keywords: Stuttering, DRD2, rs6277, Turkish population

Anahtar Kelimeler

• Stuttering
• DRD2
• rs6277
• Turkish population

Kaynakça

1. Alm PA, 2004. Stuttering and the Basal Ganglia Circuits: a Critical Review of Possible Relations. Journal of Communication Disorders, 37:325–369.
2. Alm PA, 2005. On the Causal Mechanisms of Stuttering. Lund University http://theses.lub.lu.se/postgrad/ (Printed)
3. Brady JP, 1991. The Pharmacology of Stuttering: A Critical Review. The American Journal of Psychiatry, 148(10):1309-16.
4. Craig A, Hancock K, Tran Y, Craig M, Peters K, 2002. Epidemiology of Stuttering in The Community Across The Entire Life Span. Journal of Speech, Language and Hearing Research, 45(6):1097-1105.
5. Domingues CE, Olivera CM, Oliveira BV, Juste FS, Andrade CR, Giacheti CM, Moretti-Ferreira D, Drayna D, 2014. A Genetic Linkage Study in Brazil Identifies a New Locus for Persistent Developmental Stuttering on Chromosome 10. Genetics and Molecular Research, 24;13(1):2094-2101
6. Dworzynski K, Remington A, Rijsdijk F, Howell P, Plomin R, 2007. Genetic Etiology in Cases of Recovered and Persistent Stuttering in an Unselected, Longitudinal Sample of Young Twins. Amrican Journal of Speech-Language Pathology, 16:169-178.
7. Fagnani C, Fibiger S, Skytthe A, Hjelmborg JV, 2011. Heritability and Environmental Effects for Self-Reported Periods with Stuttering: A Twin Study from Denmark. Logopedics, Phoniatrics Vocology, 36(3):114-120.
8. Felsenfeld S, Kirk KM, Zhu G, Statham DJ, Neale MC et al., 2000. A Study of The Genetic and Environmental Etiology of Stuttering in a Selected Twin Sample. Behavior Genetics, 30:359–366.

9. Felsenfeld S, Plomin R, 1997. Epidemiological and Offspring Analyses of Developmental Speech Disorders Using Data from the Colorado Adoption Project. Journal of Speech, Language and Hearing Research, 40:778-91.
10. Guitar B, 2006. Stuttering: An Integrated Approach to Its Nature and Treatment (3th ed.). Lippincott Williams and Wilkins Philadelphia, PA.
11. Hirvonen M, Laakso A, Nagren K, Rinne JO, Pohjalainen T, Hietala J, 2004. C957T Polymorphism of the Dopamine D2 Receptor (DRD2) Gene Affects Striatal DRD2 Availability in Vivo. Molecular Psychiatry, 9: 1060–1061.
12. Howie PM, 1981. Concordance for Stuttering in Monozygotic and Dizygotic Twin Pairs. Journal of Speech, Language and Hearing Research, 24:317-321.
13. Kang C, Domingues BS, Sainz E, Domingues CE, Drayna D, et al., 2011. Evaluation of the Association Between Polymorphisms at The DRD2 Locus and Stuttering. Journal of Human Genetics, 56(6):472-3.
14. Kraft SJ, 2010. Genome-wide association study of persistent developmental stuttering. Doctora thesis. University of Illinois, http://hdl.handle.net/2142/17054 (Printed).
15. Lan J, Song M, Pan C, Zhuang G, Wang Y, Ma W, Chu Q, Lai Q, Xu F, Li Y, Liu L, Wang W, 2009. Association Between Dopaminergic Genes (SLC6A3 And DRD2) and Stuttering Among Han Chinese. Journal of Human Genetics, 54(8):457-60.
16. Maguire GA, Riley GD, Franklin DL, Maguire ME, Nguyen CT, et al., 2004. Olanzapine in the Treatment of Developmental Stuttering: A Double-Blind, Placebo-Controlled Trial. Annals of Clinical Psychiatry, 16:63–67.
17. Mansson, H, 2000. Childhood Stuttering: Incidence and Development. Journal of Fluency Disord, 25; 47-57.
18. Mohammadi H, Joghataei MT, Rahimi Z, Faghihi F, Farhangdoost H, 2018. Relationship between Serum Homovanillic Acid, DRD2 C957T (rs6277), and hDAT A559V (rs28364997) Polymorphisms and Developmental Stuttering. Journal of Communication Disorders, 76:37-46.
19. Montag C, Bleek B, Faber J, Reuter M, 2012. The Role of the DRD2 C957T Polymorphism in Neuroticism in Persons Who Stutter and Healthy Controls. Neuroreport, 23(4):246-50.
20. Mutlu, A, 2015. Kekemelik Şiddetini Değerlendirme Aracının (Stuttering Severity Instrument 4) 6-16 Yaş Okul Çağı Çocuklarda Türkçe Uyarlaması. Gazi University, Sağlık Bilimleri Enstitüsü, Master’s Thesis (Printed).
21. Noble EP, 1998. The D2 Dopamine Receptor Gene: A Review of Association Studies in Alcoholism and Phenotypes. Alcohol, 16(Suppl1):33–45.
22. Ooki S, 2005. Genetic and Environmental Influences on Stuttering and Tics in Japanese Twin Children. Twin Research and Human Genetics: the official journal of the International Society for Twin Studies, 8:69–75.
23. Pellowski MW, Conture EG, 2002. Characteristics of Speech Disfluency and Stuttering Behaviors in 3- and 4-Year-Old Children. Journal of Speech, Language and Hearing Research, 45(1):20-34.
24. Perez HR, Stoeckle JH, 2016. Stuttering: Clinical and Research Update. Canadian Family Physician, 62(6):479-84.
25. Rautakoski P, Hannus T, Simberg S, Sandnabba NK, Santtila P, 2012. Genetic and Environmental Effects on Stuttering: A Twin Study from Finland. Journal of Fluency Disorders, 37(3):202-10.
26. Raza MH, Amjad R, Riazuddin S, Drayna D, 2012. Studies in a Consanguineous Family Reveal a Novel Locus for Stuttering on Chromosome 16q. Human Genetics,131(2):311-313.
27. Raza MH, Gertz EM, Mundorff J, Lukong J, Kuster J et al., 2013. Linkage Analysis of a Large African Family Segregating Stuttering Suggests Polygenic Inheritance. Human Genetics, 132:385-396.
28. Riaz N, Steinberg S, Ahmad J, Pluzhnikov A, Riazuddin S, Cox NJ, Drayna D, 2005. Genomewide Significant Linkage to Stuttering on Chromosome 12. American Journal of Human Genetics, 76(4):647-51.
29. Shugart YY, Mundorff J, Kilshaw J, Doheny K, Doan B, Wanyee J, Green ED, Drayna D, 2004. Results of a Genome-Wide Linkage Scan For Stuttering. American Jounal of Medical Genetics. Part A, 124A(2):133-5.
30. Stager SV, Calis K, Grothe D, Bloch M, Berensen NM, Smith PJ, Braun A, 2005. Treatment with Medications Affecting Dopaminergic and Serotonergic Mechanisms: Effects on Fluency and Anxiety in Persons Who Stutter. Journal of Fluency Disorders, 30(4):319-35.
31. Suresh R, Ambrose N, Roe C, Pluzhnikov A, Wittke-Thompson JK, Ng MC, Wu X, Cook EH, Lundstrom C, Garsten M, Ezrati R, Yairi E, Cox NJ, 2006. New Complexities in The Genetics of Stuttering: Significant Sex-Specific Linkage Signals. American Journal of Human Genetics, 78(4):554-63.
32. Tran NL, Maguire GA, Franklin DL, Riley GD, 2008. Case Report of Aripiprazole for Persistent Developmental Stuttering. Journal of Clinical Psychopharmacology, 28(4):470-2.
33. Wittke-Thompson JK, Ambrose N, Yairi E, Roe C, Cook EH, et al., 2007. Genetic Studies of Stuttering in a Founder Population. Journal of Fluency Disorders, 32(1):33-50.
34. Wu JC, Maguire G, Riley G, Fallon J, LaCasse L, et al., 1995. A Positron Emission Tomography [18F] Deoxyglucose Study of Developmental Stuttering. NeuroReport, 6:501–505.
35. Wu JC, Maguire G, Riley G, Lee A, Keator D, et al., 1997. Increased Dopamine Activity Associated with Stuttering. Neuroreport, 8(3):767-70.