Sequence variants affecting voice pitch in humans

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.

Genetic association analysis of human median voice pitch identifies a common locus for tonal and non-tonal languages

“…1 ). The variant rs11046212-T in an intron of the ABCC9 gene, associated with a pitch in the Iceland study 6 , was one of the strongest associations in our study ( , 2.3 Hz per allele, ). Association with one other locus on the same chromosome, rs10859172-C, achieved almost equal significance ( ).…”

“…We used the median F0 to measure pitch, the same measure used in the Iceland study 6 . The mean over all subjects was 206.25 Hz (SD = 26.31 Hz).…”

“…There is a broad set of acoustic measures, each representing a specific aspect of the human vocal system and its psychological correlates 6 . A recent genome-wide association study (GWAS) discovered the first genetic locus associated with median voice pitch 6 , which reflects the rate of vocal fold vibration and is perceived as how deep or high the voice sounds.…”

“…There is a broad set of acoustic measures, each representing a specific aspect of the human vocal system and its psychological correlates 6 . A recent genome-wide association study (GWAS) discovered the first genetic locus associated with median voice pitch 6 , which reflects the rate of vocal fold vibration and is perceived as how deep or high the voice sounds. By recording the voice of 12,901 Icelanders during a reading task, a single locus was found that exceeded a corrected significance threshold, on chromosome 12 at the adenosine triphosphate binding cassette subfamily C member 9 gene ( ABCC9 ).…”

“…The Icelandic finding, so far not replicated in an independent sample, raises several questions: First, does the chromosome 12 locus have the same effect in other populations? Iceland is genetically and linguistically homogeneous with minor dialectal variation in their non-tonal language 6 . Second, how does the chromosome 12 locus affect pitch in speakers of tonal languages?…”