Issue Navigator

Volume 15 No. 11
Earn CME
Accepted Papers

Scientific Investigations

Familial Aggregation and Heritability of Obstructive Sleep Apnea Using Children Probands

Chun Ting Au, PhD1; Jihui Zhang, PhD2; Jennifa Yuk Fa Cheung, RPSGT2; Kate Ching Ching Chan, FHKAM (Paed)1; Yun Kwok Wing, FRCPsych, FHKAM (Psych)2; Albert M. Li, MD1
1Department of Paediatrics, Faculty of Medicine, The Chinese University of Hong Kong, Hong Kong; 2Department of Psychiatry, Faculty of Medicine, The Chinese University of Hong Kong, Hong Kong

Study Objectives:

Previous studies suggest the presence of familial aggregation of obstructive sleep apnea (OSA) in adults. However, similar data on childhood OSA are limited. This family study aimed to investigate the heritability and familial aggregation of childhood OSA and to examine whether significant differences existed between patients of normal weight and overweight.


Children aged 6 to 18 years were recruited as probands either from attendants to sleep clinic (with habitual snoring) or the community (without habitual snoring). Parents and siblings of the probands were also invited to participate. All participants underwent nocturnal sleep study.


A total of 229 probands took part, of whom 33 had moderate to severe OSA, 70 had mild disease, and 126 had no OSA. A total of 412 relatives were also recruited. Although the overall heritability of obstructive apnea-hypopnea index (OAHI) was not significant (h2 ± SE = 0.03 ± 0.09, P = .37), it was significant in overweight individuals on subgroup analysis (h2 ± SE = 0.43 ± 0.24, P = .032). Significant interaction effect of overweight was demonstrated in both heritability and familial aggregation analyses. Bivariate genetic analysis found that the genetic correlation between OAHI and body mass index in overweight individuals (ρg ± SE = 0.63 ± 0.18) was significantly different from both 0 (P = .005) and 1 (P = .025).


The differential results of heritability and familial aggregation of OSA in normal weight and overweight subgroups substantiated the recommendation of separating childhood OSA into normal weight and overweight subtypes. In the overweight subgroup, there may be obesity-independent components involved in the genetic variance of OAHI, although a significant proportion of the genetic variance is shared with obesity.


Au CT, Zhang J, Cheung JYF, Chan KCC, Wing YK, Li AM. Familial aggregation and heritability of obstructive sleep apnea using children probands. J Clin Sleep Med. 2019;15(11):1561–1570.

Supplemental Material

Login to view supplemental material

Please login to continue reading the full article

Subscribers to JCSM get full access to current and past issues of the JCSM.

Login to JCSM

Not a subscriber?

Join the American Academy of Sleep Medicine and receive a subscription to JCSM with your membership

Subscribe to JCSM:  $125/volume year for individuals or $225/volume year for institutions to access all current articles and archives published in JCSM.

Download this article*:   $20 to access a PDF version of a specific article from the current issue of JCSM.

*Purchase of an article provides permission to access and print the article for personal scholarly, research and educational use. Please note: access to the article is from the computer on which the article is purchased ONLY. Purchase of the article does not permit distribution, electronic or otherwise, of the article without the written permission of the AASM. Further, purchase does not permit the posting of article text on an online forum or website.