Familial Aggregation and Heritability of Obstructive Sleep Apnea Using Children Probands

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 (ρ_g ± 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.