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Associations Between Vocal Symptoms and Genetic Variants in the Oxytocin Receptor and Arginine Vasopressin 1A Receptor Gene

Journal article
Authors S. H. Jamsen
Ada Johansson
Lars Westberg
P. Santtila
B. von der Pahlen
S. Simberg
Published in Journal of Speech Language and Hearing Research
Volume 60
Issue 7
Pages 1843-1854
ISSN 1092-4388
Publication year 2017
Published at Institute of Neuroscience and Physiology, Department of Pharmacology
Pages 1843-1854
Language en
Keywords single-nucleotide polymorphisms, pituitary-adrenocortical axis, autism, spectrum disorders, voice disorders, oxtr polymorphisms, aggressive-behavior, stress reactivity, social-behavior, brain oxytocin, mental-health, Audiology & Speech-Language Pathology, Linguistics, Rehabilitation
Subject categories Neurosciences, Audiology


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.

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