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Heritability of upper airway dimensions derived using acoustic pharyngometry

¹ Division of Pulmonary, Critical Care and Sleep Medicine, University Hospitals Case Medical Center and Case Western Reserve University, and ² Center for Clinical Investigation, Case Western Reserve University, Cleveland, OH, USA.

CORRESPONDENCE: S. R. Patel, 11400 Euclid Avenue, Room 290-D, Cleveland, OH 44106, USA. Fax: 1 2168446265. E-mail: srp20{at}case.edu

Keywords: Genetic epidemiology, heritability, oropharynx, pharyngometry, sleep apnoea, upper airway

Received: February 26, 2008
Accepted June 9, 2008

Acoustic pharyngometry represents a simple, quick noninvasive method of measuring upper airway dimensions, which are predictive of sleep apnoea risk. The aim of the present study was to assess the genetic basis of upper airway size as determined using pharyngometry.

Participants in the Cleveland Family Study aged >14 yrs underwent three acoustic pharyngometric measurements. Variance component models adjusted for age and sex were used to estimate the heritability of pharyngometry-derived airway measures.

A total of 568 out of 655 (87%) subjects provided pharyngometric curves of sufficient quality. Although African-Americans tended to show narrower airways compared with white subjects, heritability patterns were similar in these two groups. The minimum cross-sectional area exhibited a heritability of 0.34 in white subjects and 0.39 in African-Americans, suggesting that 30–40% of the total variance in this measure is explained by shared familial factors. Estimates were unchanged after adjustment for body mass index or neck circumference. In contrast, oropharyngeal length did not show significant heritability in either ethnic group.

The minimum cross-sectional area of the oropharynx is a highly heritable trait, suggesting the presence of an underlying genetic basis. These findings demonstrate the potential utility of acoustic pharyngometry in dissecting the genetic basis of sleep apnoea.