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A Genetic Analysis of Correlated Traits: The Apnea Hypopnea Index and Body Mass Index

Larkin, Emma Katherine

Abstract Details

2007, Doctor of Philosophy, Case Western Reserve University, Epidemiology and Biostatistics.
In order to understand the genetics of sleep apnea, it is important to dissect the relationship between two highly correlated traits: the apnea hypopnea index (AHI), its main metric, and body mass index (BMI), a strong risk factor for sleep apnea. Genotyping data from 2 separate 10 cM genome scans of the Cleveland Family Study of Sleep Apnea were pooled to yield a data set with 634 individuals from 128 African American families and 641 individuals from 109 European Americans families. Heritability and segregation analyses were performed for a variety of AHI measurements which identified the lowest AHI measurement from longitudinal data as the optimal phenotype for linkage analysis. Univariate linkage analyses, using Haseman-Elston regression of sibling pairs and pedigree based variance component linkage analyses, were performed to identify areas where there are potential underlying quantitative trait loci for AHI that are independent of BMI and/or loci that are acting pleiotropically on both AHI and BMI together. A simulation study was proposed to assess the significance of differences in linkage peaks for two correlated traits at the same chromosomal location. Additional bivariate modeling and interaction modeling helped tease apart the relationship between the AHI and BMI. In European Americans, the most promising area of linkage to AHI was located near the orexin 2 receptor on chromosome 6, where there was evidence for underlying disease susceptibility loci for AHI that operate independently of BMI and act pleiotropically on BMI. Additional gene by BMI modeling increased the evidence for linkage to AHI on chromosomes 6, 10 and 19 in European Americans. In African Americans, the most suggestive area of linkage to a locus unique to AHI was on chromosome 8p11.1-11.2. There was also evidence in African Americans for a putative quantitative trait locus, acting on both BMI and AHI, near the serotonin 2A receptor on chromosome 13.
Robert Elston (Advisor)
1206 p.

Recommended Citations

Citations

  • Larkin, E. K. (2007). A Genetic Analysis of Correlated Traits: The Apnea Hypopnea Index and Body Mass Index [Doctoral dissertation, Case Western Reserve University]. OhioLINK Electronic Theses and Dissertations Center. http://rave.ohiolink.edu/etdc/view?acc_num=case1175825365

    APA Style (7th edition)

  • Larkin, Emma. A Genetic Analysis of Correlated Traits: The Apnea Hypopnea Index and Body Mass Index. 2007. Case Western Reserve University, Doctoral dissertation. OhioLINK Electronic Theses and Dissertations Center, http://rave.ohiolink.edu/etdc/view?acc_num=case1175825365.

    MLA Style (8th edition)

  • Larkin, Emma. "A Genetic Analysis of Correlated Traits: The Apnea Hypopnea Index and Body Mass Index." Doctoral dissertation, Case Western Reserve University, 2007. http://rave.ohiolink.edu/etdc/view?acc_num=case1175825365

    Chicago Manual of Style (17th edition)