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. 2003 Feb;72(2):340-50.
doi: 10.1086/346064. Epub 2002 Dec 23.

A whole-genome scan for obstructive sleep apnea and obesity

Lyle J Palmer  1 , Sarah G Buxbaum, Emma Larkin, Sanjay R Patel, Robert C Elston, Peter V Tishler, Susan Redline
Affiliations

A whole-genome scan for obstructive sleep apnea and obesity

Lyle J Palmer et al. Am J Hum Genet. 2003 Feb.

Abstract

Obstructive sleep apnea (OSA) is a common, chronic, complex disease associated with serious cardiovascular and neuropsychological sequelae and with substantial social and economic costs. Along with male gender, obesity is the most characteristic feature of OSA in adults. To identify susceptibility loci for OSA, we undertook a 9-cM genome scan in 66 white pedigrees (n=349 subjects) ascertained on the basis of either an affected individual with laboratory-confirmed OSA or a proband who was a neighborhood control individual. Multipoint variance-component linkage analysis was performed for the OSA-associated quantitative phenotypes apnea-hypopnea index (AHI) and body mass index (BMI). Candidate regions on chromosomes 1p (LOD score 1.39), 2p (LOD score 1.64), 12p (LOD score 1.43), and 19p (LOD score 1.40) gave the most evidence for linkage to AHI. BMI was also linked to multiple regions, most significantly to markers on chromosomes 2p (LOD score 3.08), 7p (LOD score 2.53), and 12p (LOD score 3.41). Extended modeling indicated that the evidence for linkage to AHI was effectively removed after adjustment for BMI, with the exception of the candidate regions on chromosomes 2p (adjusted LOD score 1.33) and 19p (adjusted LOD score 1.45). After adjustment for AHI, the primary linkages to BMI remained suggestive but were roughly halved. Our results suggest that there are both shared and unshared genetic factors underlying susceptibility to OSA and obesity and that the interrelationship of OSA and obesity in white individuals may be partially explained by a common causal pathway involving one or more genes regulating both AHI and BMI levels.

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Figures

Figure 1
Figure 1
Multipoint variance-component linkage analysis of all 22 autosomes in pedigrees with OSA. Linkage analysis results are presented for ln(AHI) and BMI, with adjustment for relevant covariates. The X-axis represents genetic distance (in cM) along each of the 22 autosomes, and the Y-axis represents the multipoint variance-component LOD score. Markers are arrayed in map order along top of each plot.
Figure 2
Figure 2
Multipoint variance-component linkage analysis of chromosome 2p (0–125 cM from pter). Genetic distance (in cM) is plotted against the multipoint variance-component LOD score for ln(AHI), ln(AHI) adjusted for BMI, BMI, and BMI adjusted for ln(AHI). Chromosome 2 markers are arrayed in map order along the top of the plot.
See this image and copyright information in PMC

References

Electronic-Database Information

    1. Center for Medical Genetics, Marshfield Medical Research Foundation, http://research.marshfieldclinic.org/genetics/ (for the NHLBI mammalian genotyping service)
    1. Online Mendelian Inheritance in Man (OMIM), http://www.ncbi.nlm.nih.gov/Omim/ (for OSA [MIM 107650], obesity [MIM 601665], acid phosphatase 1 [MIM 171500], apolipoprotein B precursor [MIM 107730], proopiomelanocortin [MIM 176830], alpha-2B-adrenergic receptor [MIM 104260], neuropeptide Y [MIM 162640], vitamin D receptor [MIM 601769], insulin-like growth factor 1 [MIM 147440], and apolipoprotein E [MIM 107741])
    1. UCSC Genome Bioinformatics, http://genome.cse.ucsc.edu/ (for Human Genome Working Draft “Golden Path”)
    1. University of Arizona/Channing Labs, Programs for Genomic Applications, http://pga.bwh.harvard.edu/ (for SNPper)

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