Sequence variants affecting voice pitch in humans.
Rosa S GisladottirAgnar HelgasonBjarni V HalldórssonHannes HelgasonMichal BorskyYu-Ren ChienJon GudnasonSigurjon A GudjonssonScott R MoisikDan DediuGudmar ThorleifssonVinicius TraganteMariana BustamanteGudrun A JonsdottirLilja StefansdottirGudrun RutsdottirSigurdur H MagnussonMarteinn Thor HardarsonEgil FerkingstadGisli Hreinn HalldorssonSolvi RognvaldssonAstros Th SkuladottirErna V IvarsdottirGudmundur NorddahlGudmundur ThorgeirssonIngileif JónsdóttirMagnus O UlfarssonHilma HólmHreinn StefánssonUnnur ThorsteinsdottirDaníel F GuðbjartssonPatrick SulemKári StefánssonPublished in: Science advances (2023)
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.