Sequence variants affecting voice pitch in humans

Author:

Gisladottir Rosa S.12ORCID,Helgason Agnar13ORCID,Halldorsson Bjarni V.14ORCID,Helgason Hannes1,Borsky Michal4,Chien Yu-Ren4ORCID,Gudnason Jon4ORCID,Gudjonsson Sigurjon A.1ORCID,Moisik Scott5ORCID,Dediu Dan678ORCID,Thorleifsson Gudmar1ORCID,Tragante Vinicius1ORCID,Bustamante Mariana1,Jonsdottir Gudrun A.1,Stefansdottir Lilja1,Rutsdottir Gudrun1ORCID,Magnusson Sigurdur H.1,Hardarson Marteinn1ORCID,Ferkingstad Egil1ORCID,Halldorsson Gisli H.19ORCID,Rognvaldsson Solvi1ORCID,Skuladottir Astros1ORCID,Ivarsdottir Erna V.1,Norddahl Gudmundur1ORCID,Thorgeirsson Gudmundur110,Jonsdottir Ingileif110ORCID,Ulfarsson Magnus O.19ORCID,Holm Hilma1ORCID,Stefansson Hreinn1ORCID,Thorsteinsdottir Unnur110ORCID,Gudbjartsson Daniel F.19ORCID,Sulem Patrick1ORCID,Stefansson Kari110ORCID

Affiliation:

1. deCODE Genetics/Amgen Inc., Sturlugata 8, 101 Reykjavik, Iceland.

2. Department of Icelandic and Comparative Cultural Studies, University of Iceland, Saemundargata 2, 102 Reykjavik, Iceland.

3. Department of Anthropology, University of Iceland, Saemundargata 10, 102 Reykjavik, Iceland.

4. Department of Engineering, Reykjavik University, Menntavegur 1, 101 Reykjavik, Iceland.

5. Division of Linguistics and Multilingual Studies, Nanyang Technological University, 50 Nanyang Avenue, Singapore 639798, Singapore.

6. Department of Catalan Philology and General Linguistics, University of Barcelona, Gran Via 585, Barcelona 08007, Spain.

7. University of Barcelona Institute for Complex Systems (UBICS), Martí Franquès 1, Barcelona 08028, Spain.

8. Catalan Institute for Research and Advanced Studies (ICREA), Passeig Lluís Companys 23, Barcelona 08010, Spain.

9. School of Engineering and Natural Sciences, University of Iceland, Dunhagi 5, 107 Reykjavik, Iceland.

10. Faculty of Medicine, University of Iceland, Vatnsmyrarvegur 16, 101 Reykjavik, Iceland.

Abstract

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.

Publisher

American Association for the Advancement of Science (AAAS)

Subject

Multidisciplinary

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