OBJECTIVES: Accumulating evidence has shown that there is a genetic contribution to obstructive sleep apnea (OSA).The objectives were to use magnetic resonance imaging (MRI) cephalometry to (1) confirm heritability of craniofacial risk factors for OSA previously shown by cephalometrics; and (2) examine the heritability of new craniofacial structures that are measurable with MRI. DESIGN: A sib pair "quad" design examining apneics, apneic siblings, controls, and control siblings. The study design used exact matching on ethnicity and sex, frequency matching on age, and statistical control for differences in age, sex, ethnicity, height, and weight. SETTING: Academic medical center. PATIENTS: We examined 55 apneic probands (apnea-hypopnea index [AHI]: 46.8 ± 33.5 events/h), 55 proband siblings (AHI: 11.1 ± 15.9 events/h), 55 controls (AHI: 2.2 ± 1.7 events/h), and 55 control siblings (AHI: 4.1 ± 4.0 events/h). INTERVENTIONS: N/A. MEASUREMENTS AND RESULTS: Five independent domains reflecting different aspects of the craniofacial structure were examined. We confirmed heritability of sella-nasion-subspinale (38%, P = 0.002), saddle angle (55%, P < 0.0001), mandibular length (24%, P = 0.02) and lower facial height (33%, P = 0.006) previously measured by cephalometry. In addition, the current study added new insights by demonstrating significant heritability of mandibular width (30%, P = 0.005), maxillary width (47%, P < 0.0001), distance from the hyoid bone to the retropogonion (36%, P = 0.0018) and size of the oropharyngeal space (31%, P = 0.004). Finally, our data indicate that heritability of the craniofacial structures is similar in normal patients and those with apnea. CONCLUSIONS: The data support our a priori hypothesis that the craniofacial structures that have been associated with obstructive sleep apnea (OSA) are heritable. We have demonstrated heritability for several intermediate craniofacial phenotypes for OSA. Thus, we believe that future studies should be able to identify genes associated with these intermediate craniofacial phenotypes.
OBJECTIVES: Accumulating evidence has shown that there is a genetic contribution to obstructive sleep apnea (OSA).The objectives were to use magnetic resonance imaging (MRI) cephalometry to (1) confirm heritability of craniofacial risk factors for OSA previously shown by cephalometrics; and (2) examine the heritability of new craniofacial structures that are measurable with MRI. DESIGN: A sib pair "quad" design examining apneics, apneic siblings, controls, and control siblings. The study design used exact matching on ethnicity and sex, frequency matching on age, and statistical control for differences in age, sex, ethnicity, height, and weight. SETTING: Academic medical center. PATIENTS: We examined 55 apneic probands (apnea-hypopnea index [AHI]: 46.8 ± 33.5 events/h), 55 proband siblings (AHI: 11.1 ± 15.9 events/h), 55 controls (AHI: 2.2 ± 1.7 events/h), and 55 control siblings (AHI: 4.1 ± 4.0 events/h). INTERVENTIONS: N/A. MEASUREMENTS AND RESULTS: Five independent domains reflecting different aspects of the craniofacial structure were examined. We confirmed heritability of sella-nasion-subspinale (38%, P = 0.002), saddle angle (55%, P < 0.0001), mandibular length (24%, P = 0.02) and lower facial height (33%, P = 0.006) previously measured by cephalometry. In addition, the current study added new insights by demonstrating significant heritability of mandibular width (30%, P = 0.005), maxillary width (47%, P < 0.0001), distance from the hyoid bone to the retropogonion (36%, P = 0.0018) and size of the oropharyngeal space (31%, P = 0.004). Finally, our data indicate that heritability of the craniofacial structures is similar in normal patients and those with apnea. CONCLUSIONS: The data support our a priori hypothesis that the craniofacial structures that have been associated with obstructive sleep apnea (OSA) are heritable. We have demonstrated heritability for several intermediate craniofacial phenotypes for OSA. Thus, we believe that future studies should be able to identify genes associated with these intermediate craniofacial phenotypes.
Authors: L Chi; F-L Comyn; N Mitra; M P Reilly; F Wan; G Maislin; L Chmiewski; M D Thorne-FitzGerald; U N Victor; A I Pack; R J Schwab Journal: Eur Respir J Date: 2011-01-13 Impact factor: 16.671
Authors: Caroline Driessen; Koen F M Joosten; Natalja Bannink; Hansje H Bredero-Boelhouwer; Hans L J Hoeve; Eppo B Wolvius; Dimitris Rizopoulos; Irene M J Mathijssen Journal: Arch Dis Child Date: 2013-05-23 Impact factor: 3.791
Authors: Nicole Soranzo; Fernando Rivadeneira; Usha Chinappen-Horsley; Ida Malkina; J Brent Richards; Naomi Hammond; Lisette Stolk; Alexandra Nica; Michael Inouye; Albert Hofman; Jonathan Stephens; Eleanor Wheeler; Pascal Arp; Rhian Gwilliam; P Mila Jhamai; Simon Potter; Amy Chaney; Mohammed J R Ghori; Radhi Ravindrarajah; Sergey Ermakov; Karol Estrada; Huibert A P Pols; Frances M Williams; Wendy L McArdle; Joyce B van Meurs; Ruth J F Loos; Emmanouil T Dermitzakis; Kourosh R Ahmadi; Deborah J Hart; Willem H Ouwehand; Nicholas J Wareham; Inês Barroso; Manjinder S Sandhu; David P Strachan; Gregory Livshits; Timothy D Spector; André G Uitterlinden; Panos Deloukas Journal: PLoS Genet Date: 2009-04-03 Impact factor: 5.917
Authors: Markus Perola; Sampo Sammalisto; Tero Hiekkalinna; Nick G Martin; Peter M Visscher; Grant W Montgomery; Beben Benyamin; Jennifer R Harris; Dorret Boomsma; Gonneke Willemsen; Jouke-Jan Hottenga; Kaare Christensen; Kirsten Ohm Kyvik; Thorkild I A Sørensen; Nancy L Pedersen; Patrik K E Magnusson; Tim D Spector; Elisabeth Widen; Karri Silventoinen; Jaakko Kaprio; Aarno Palotie; Leena Peltonen Journal: PLoS Genet Date: 2007-05-02 Impact factor: 5.917
Authors: Chun Ting Au; Jihui Zhang; Jennifa Yuk Fa Cheung; Kate Ching Ching Chan; Yun Kwok Wing; Albert M Li Journal: J Clin Sleep Med Date: 2019-11-15 Impact factor: 4.062
Authors: Scott A Sands; Danny J Eckert; Amy S Jordan; Bradley A Edwards; Robert L Owens; James P Butler; Richard J Schwab; Stephen H Loring; Atul Malhotra; David P White; Andrew Wellman Journal: Am J Respir Crit Care Med Date: 2014-10-15 Impact factor: 21.405