Sequence variants affecting voice pitch in humans

• Main Authors: Gisladottir, Rosa S., Helgason, Agnar, Halldorsson, Bjarni V., Helgason, Hannes, Borsky, Michal, Chien, Yu-Ren, Gudnason, Jon, Gudjonsson, Sigurjon A., Moisik, Scott, Dediu, Dan, Thorleifsson, Gudmar, Tragante, Vinicius, Bustamante, Mariana, Jonsdottir, Gudrun A., Stefansdottir, Lilja, Rutsdottir, Gudrun, Magnusson, Sigurdur H., Hardarson, Marteinn, Ferkingstad, Egil, Halldorsson, Gisli H., Rognvaldsson, Solvi, Skuladottir, Astros, Ivarsdottir, Erna V., Norddahl, Gudmundur, Thorgeirsson, Gudmundur, Jonsdottir, Ingileif, Ulfarsson, Magnus O., Holm, Hilma, Stefansson, Hreinn, Thorsteinsdottir, Unnur, Gudbjartsson, Daniel F., Sulem, Patrick, Stefansson, Kari
• Other Authors: School of Humanities
• Format: Article
• Language: English
• Published: 2023
• Subjects: Humanities::Linguistics; Coverage Neanderthal Genome; Vocal Fold Health
• Online Access: https://hdl.handle.net/10356/171686
• Institution: Nanyang Technological University

The genetic basis of the human vocal system is largely unknown, as are the sequence variants that give rise to individual differences in voice and speech. Here, we couple data on diversity in the sequence of the genome with voice and vowel acoustics in speech recordings from 12,901 Icelanders. We show how voice pitch and vowel acoustics vary across the life span and correlate with anthropometric, physiological, and cognitive traits. We found that voice pitch and vowel acoustics have a heritable component and discovered correlated common variants in ABCC9 that associate with voice pitch. The ABCC9 variants also associate with adrenal gene expression and cardiovascular traits. By showing that voice and vowel acoustics are influenced by genetics, we have taken important steps toward understanding the genetics and evolution of the human vocal system.