Associations Between Vocal Symptoms and Genetic Variants in the Oxytocin Receptor and Arginine Vasopressin 1A Receptor Gene Purpose Oxytocin and arginine vasopressin are associated with different aspects of the stress response. As stress is regarded as a risk factor for vocal symptoms, we wanted to explore the association between the oxytocin receptor gene (OXTR) and arginine vasopressin 1A receptor gene (AVPR1A) single-nucleotide polymorphisms (SNPs) and vocal symptoms. ... Research Article
Research Article  |   July 12, 2017
Associations Between Vocal Symptoms and Genetic Variants in the Oxytocin Receptor and Arginine Vasopressin 1A Receptor Gene
 
Author Affiliations & Notes
  • Sofia Holmqvist Jämsen
    Faculty of Arts, Psychology and Theology, Åbo Akademi University, Turku, Finland
  • Ada Johansson
    Faculty of Arts, Psychology and Theology, Åbo Akademi University, Turku, Finland
    Department of Psychology and Speech-Language Pathology, Faculty of Social Sciences, University of Turku, Finland
    Department of Pharmacology, Institute of Neuroscience and Physiology, Sahlgrenska Academy, University of Gothenburg, Sweden
  • Lars Westberg
    Department of Pharmacology, Institute of Neuroscience and Physiology, Sahlgrenska Academy, University of Gothenburg, Sweden
  • Pekka Santtila
    Faculty of Arts, Psychology and Theology, Åbo Akademi University, Turku, Finland
  • Bettina von der Pahlen
    Faculty of Arts, Psychology and Theology, Åbo Akademi University, Turku, Finland
  • Susanna Simberg
    Faculty of Arts, Psychology and Theology, Åbo Akademi University, Turku, Finland
    Department of Special Needs Education, Faculty of Educational Sciences, University of Oslo, Norway
  • Disclosure: The authors have declared that no competing interests existed at the time of publication.
    Disclosure: The authors have declared that no competing interests existed at the time of publication. ×
  • Correspondence to Sofia Holmqvist: soholmqv@abo.fi
  • Editor: Julie Liss
    Editor: Julie Liss×
  • Associate Editor: Julie Liss
    Associate Editor: Julie Liss×
Article Information
Speech, Voice & Prosodic Disorders / Voice Disorders / Special Populations / Genetic & Congenital Disorders / Speech / Research Articles
Research Article   |   July 12, 2017
Associations Between Vocal Symptoms and Genetic Variants in the Oxytocin Receptor and Arginine Vasopressin 1A Receptor Gene
Journal of Speech, Language, and Hearing Research, July 2017, Vol. 60, 1843-1854. doi:10.1044/2016_JSLHR-S-16-0059
History: Received February 10, 2016 , Revised November 15, 2016 , Accepted December 27, 2016
 
Journal of Speech, Language, and Hearing Research, July 2017, Vol. 60, 1843-1854. doi:10.1044/2016_JSLHR-S-16-0059
History: Received February 10, 2016; Revised November 15, 2016; Accepted December 27, 2016

Purpose Oxytocin and arginine vasopressin are associated with different aspects of the stress response. As stress is regarded as a risk factor for vocal symptoms, we wanted to explore the association between the oxytocin receptor gene (OXTR) and arginine vasopressin 1A receptor gene (AVPR1A) single-nucleotide polymorphisms (SNPs) and vocal symptoms. We also wanted to explore whether such effects might be mediated by cortisol because oxytocin and vasopressin are associated with cortisol levels.

Method A population-based sample (N = 657) of Finnish twins (born 1961–1989) completed a web questionnaire on the occurrence of vocal symptoms. A total of 170 participants submitted saliva samples for hormone analysis. A total of 20 OXTR and AVPR1A SNPs were analyzed.

Results Three OXTR polymorphisms (rs2270465, rs2268493, rs7632287) and 2 AVPR1A polymorphisms (rs1587097, rs1042615) showed nominal effects (p < .05) on vocal symptoms, of which 1 (rs1587097) remained significant after correcting for multiple testing (p = .003). We found potential mediation of the effect of the OXTR rs2268493 polymorphism on vocal symptoms through levels of cortisol.

Conclusions The associations between variants of OXTR and AVPR1A and vocal symptoms indicate that oxytocin and vasopressin might influence vocal symptoms. The effect of oxytocin seems to be partly mediated through cortisol actions.

Acknowledgment
Preliminary results of this research were presented in a poster session at the Pan-European Voice Conference PEVOC 10, August 21–24, 2013, Prague, Czech Republic.
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