Tag Archives: genetics

Genetic, Epigenetic, and Sociocultural Data Applied to Questions of Human Health and Disease

Connie Mulligan (University of Florida)

A host of genetic and environmental factors, including sociocultural influences, impact complex phenotypes in humans. Based on this definition, complex phenotypes include complex diseases, such as cardiovascular disease and mental illness, as well as more broadly defined conditions such as stress and racial health disparities. My research takes a uniquely anthropological perspective and integrates biological and cultural factors to examine human health and disease. Specifically, I use genetic, epigenetic, biological and cultural data to investigate a diverse set of complex phenotypes. I’m interested in conditions with a stress component since stress is highly prevalent in our society and has many different facets, including genetic, biological, cultural and psychological aspects. I’m interested in racial health disparities since they, too, are prevalent in our society and have both genetic and environmental components. Epigenetic modifications may also play a role in complex phenotypes, possibly with an evolutionary component, by altering gene expression in response to events that happen during one’s lifetime. I’ll discuss two projects in my lab that 1) examine the genetic and cultural risk factors for hypertension in African Americans living in Tallahassee, FL and 2) investigate an epigenetic mechanism to mediate the effect of maternal stress on maternal and infant health in the Democratic Republic of Congo.

Using High Altitude Adaptation to Understand Complex Phenotypes

Abigail Bingham (University of Michigan)

High-altitude hypoxia, or the decrease in oxygen levels caused by lowered barometric pressure, challenges the ability of humans to live and reproduce. Human physiological responses to high-altitude have been extensively documented among long-term high-altitude residents (i.e. Andeans and Tibetans). Furthermore, recent research has begun to unravel the genetic bases for the observed physiological traits. Among Andeans, genome scans for natural selection have identified several selection nominated candidate genes or gene regions for high-altitude adaptation. This includes several genes that are part of the hypoxia inducible transcription factor (HIF) pathway involved in oxygen sensing and metabolism as well as genomic regions with previously unknown function with respect to altitude phenotypes.  In order to explore selection nominated candidate SNP genotype associations with particular altitude phenotypes, we conducted genotype-phenotype association studies among Peruvian Quechua.  Our subject participants included Quechua who were lifelong sea level residents transiently exposed to hypobaric hypoxia and Quechua who were lifelong residents of high-altitude.  Significant associations were identified for the higher arterial hemoglobin-oxygen saturation (SaO2) observed at rest and during exercise among Quechua. These results provide key insights into the patterns of genetic adaptation to high altitude in Andean populations, shed light on variants controlling this complex phenotype, and are of potential importance for public health given HIF-pathway involvement with various disease processes, e.g., regulation of tumor growth.