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Relationship between serum homovanillic acid, DRD2 C957T (rs6277), and hDAT A559V (rs28364997) polymorphisms and developmental stuttering.

Abstract：

:The involvement of the brain dopamine system in the pathophysiology of developmental stuttering has been previously suggested. In the present study, we aimed to investigate the relationship between developmental stuttering in children and the levels of serum homovanillic acid (HVA), dopamine D2 receptor (DRD2) C957T (rs6277), and solute carrier family 6 member 3 (SLC6A3) human dopamine transporter (hDAT) A559V (rs28364997) single-nucleotide polymorphisms. In a case-control study, serum level of HVA, DRD2 C957T, and DAT A559V were compared between 85 children who stuttered (CWS) and 85 age- and sex-matched children who did not stutter (CWNS). Although serum level of HVA was higher among the CWS (median = 25.50 ng/mL) than that in the CWNS (median = 17.40 ng/mL), the difference between the two groups was not significant (p = 0.43). No significant correlation was observed between age and the level of HVA among all the participants (r = -0.15, p = 0.06), nor was there any correlation among the CWS (r = -0.19, p = 0.14) or among the CWNS (r = -0.13, p = 0.27) according to the Spearman correlation coefficient. On the other hand, there was a significant negative correlation between age from stuttering onset and the serum level of HVA among the CWS group (r = -0.32, p = 0.01). The Spearman correlation coefficient did not indicate any significant correlation between stuttering severity and HVA in CWS (r = -0.06, p = 0.59). The mutant allele of hDAT A559V was observed neither in the CWS nor in the controls. The allele frequencies of DRD2 C957T were not significantly different between the CWS and the CWNS; however, the frequency of the TT genotype was significantly higher among the CWS (p = 0.02), which was associated with 2.25-fold susceptibility to stuttering (OR = 2.25, 95% CI = 1.03 to 4.90, p = 0.04). Our findings suggest that the serum level of HVA might be a biomarker for dopaminergic involvement in the pathogenesis of stuttering. Moreover, the present study indicates that the DRD2 C957T polymorphism might be a risk factor for the development of stuttering among Iranian Kurdish population.

journal_name

J Commun Disord

journal_title

Journal of communication disorders

authors

Mohammadi H,Joghataei MT,Rahimi Z,Faghihi F,Farhangdoost H

doi

10.1016/j.jcomdis.2018.08.003

subject

Has Abstract

pub_date

2018-01-01 00:00:00

pages

37-46

eissn

0021-9924

issn

1873-7994

pii

S0021-9924(17)30226-5

journal_volume

pub_type

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Relationship between serum homovanillic acid, DRD2 C957T (rs6277), and hDAT A559V (rs28364997) polymorphisms and developmental stuttering.