Heritability Analysis in Twins Indicates a Genetic Basis for Velopharyngeal Morphology

Cleft Palate Craniofac J. 2022 Nov;59(11):1340-1345. doi: 10.1177/10556656211045530. Epub 2021 Oct 4.

Abstract

The velopharyngeal mechanism is comprised of several muscular components that act in a coordinated manner to control airflow through the nose and mouth. Proper velopharyngeal function is essential for normal speech, swallowing, and breathing. The genetic basis of normal-range velopharyngeal morphology is poorly understood. The purpose of this study was to estimate the heritability of velopharyngeal dimensions.

We measured five velopharyngeal variables (velar length, velar thickness, effective velar length, levator muscle length and pharyngeal depth) from MRIs of 155 monozygotic and 208 dizygotic twin pairs and then calculated heritability for these traits using a structural equation modeling approach.

The heritability estimates were statistically significant (95% confidence intervals excluded zero) and ranged from 0.19 to 0.46. There was also evidence of significant genetic correlations between pairs of traits, pointing to the influence of common genetic effects.

These results indicate that genetic factors influence variation in clinically relevant velopharyngeal structures.

Keywords: genetics; mRI; soft palate; structural equation modeling; uvula.

Publication types

  • Twin Study
  • Research Support, N.I.H., Extramural

MeSH terms

  • Cleft Palate*
  • Humans
  • Magnetic Resonance Imaging / methods
  • Palate, Soft
  • Pharynx / anatomy & histology
  • Velopharyngeal Insufficiency* / genetics