This Is AuburnElectronic Theses and Dissertations

Association of DNA Copy Number and Structural Variation with Racial Disparities in Childhood Obesity




Phillips, Megan

Type of Degree

PhD Dissertation


Nutrition, Dietetics and Hospitality Management

Restriction Status


Restriction Type


Date Available



Obesity has become a major public health concern throughout the world. Alabama is 6th highest ranked with obesity in the United States. The development of obesity can be influenced by several factors, such as diet, environment, and genetics. Genomic variability among individuals is largely due to copy number variations (CNVs). Recent genome-wide association studies (GWAS) have successfully identified quite a few loci containing CNV related to obesity. Genomic diversity influences the mechanisms of expression in a variety of genders and ethnicities. Chapter 1 reviews the current literature on the relationships between obesity and the CNV of several loci. The subsequent chapters detail the connection between DNA copy number and structural variation (CNV) and childhood obesity in European American (EA) and African American (AA) elementary school children in Alabama. Chapter 2 evaluates the association between AMY1 copy number and obesity measurements as well as racial disparities between the two ethnic groups. Our findings suggest that overweight/obese children have a low AMY1 copy number and the effect is more prominent in AA children. Chapter 3 describes the relationship between the copy number of the 11q11 gene and obesity measurements. A significant inverse association between obesity measurements and 11q11 copy number was observed. EA children have a stronger association between low 11q11 copy number and obesity compared to AA children. The last chapter illustrates the connection between telomere length ratio, blood pressure, and childhood obesity. Our results demonstrated that AA children have high telomere to the single copy gene (T/S) ratio compared to EA children. The high T/S ratio is negatively associated with diastolic pressure.