Obstructive sleep apnea (OSA) is hypothesized to be influenced by genes within pathways involved with obesity, craniofacial development, inflammation and ventilatory control. We conducted the first candidate gene study of OSA using family data from European-Americans and African-Americans, selecting biologically plausible genes from within these pathways.

Methods

1080 single nucleotide polymorphisms (SNPs) were genotyped in 729 African-Americans and 505 SNPs were genotyped in 694 European-Americans. Coding for SNPs additively, association testing on the apnea hypopnea index (AHI) as a continuous trait and OSA as a dichotomous trait (AHI 15) was conducted using methods that account for familial correlations in models adjusted for age, age-squared, and sex, with and without body mass index.

Results:

In European-Americans, variants within C-reactive protein (CRP) and glial cell line-derived neurotrophic factor (GDNF) were associated with AHI (CRP: =4.6; SE=1.1; p=0.0000402; GDNF: =4.3; SE=1.0; p=0.0000201) and with the dichotomous OSA trait (CRP: OR= 2.4; 95% CI: 1.5-3.9; p=0.000170; GDNF: OR=2.0; 95% CI: 1.4-2.89; p=0.0000433). In African-Americans, rs9526240 within serotonin receptor 2a (HTR2A: OR=2.1; 95% CI: 1.5-2.9; p=0.00005233) was associated with OSA.

Conclusion

This candidate gene analysis identified the potential role of genes operating through intermediate disease pathways to influence sleep apnea phenotypes, providing a framework for focusing future replication studies.
Researchers

Emma K Larkin, Sanjay R Patel, Robert J Goodloe, Yali Li, Xiaofeng Zhu, Courtney Gray-McGuire, Mark D Adams, and Susan Redline2

Published ahead of print on June 10, 2010
Am. J. Respir. Crit. Care Med. 2010, doi:10.1164/rccm.201002-0192OC

Related Posts with Thumbnails

Tagged with: • • • • • • • • • • • •

Filed under: Obstructive Sleep Apnea • Sleep Apnea • Sleep Apnea Research

Like this post? Subscribe to my RSS feed and get loads more!