Tag Archives: biological anthropology

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.

Rainforest Hunter-Gatherer Evolutionary Ecology

George Perry (Penn State)

Small human body size, or the “pygmy” phenotype, is strongly associated with populations who have traditionally hunted and gathered for food in tropical rainforest habitats. The phenotype appears to have evolved independently at least twice: in both Central Africa and Southeast Asia. The likely convergence has led anthropologists to hypothesize that small body size may confer direct or indirect fitness benefits in response to one or more common ecological challenges of the tropical rainforest: (i) food limitation, (ii) high heat and humidity, (iii) forest structural density, (iv) high pathogen load, or (v) high adult mortality. To study the evolutionary ecology of the pygmy phenotype and rainforest hunter-gatherers in general, with my colleagues Nate Dominy and Luis Barreiro, I have worked closely with the Batwa, who traditionally hunted and gathered for food in Bwindi Impenetrable Forest (southwest Uganda) before it was gazetted as a National Park in 1992. I will describe results from genomic studies designed to confirm the genetic basis of the pygmy phenotype, identify genetic regions associated with the phenotype, and indirectly examine the evolutionary history of the phenotype through the study of those regions. I will also present preliminary results from ecological experiments designed to assess the plausibility of various ecological hypotheses for the adaptive origins of the pygmy phenotype.

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.

People, Place, and Other Primates: Integrated Anthropology in the Multispecies Anthropocene

Agustín Fuentes (Notre Dame)

Humans and other primates share space and place across much of the globe; our entangled histories, desires, and ecologies lead to a myriad of relationships, conflicts and communities.  Integrating the evolutionary, the ecological, and the ethnographic facilitates a robust anthropology of the Anthropocene–an anthropology that places humans as significant features of local and global ecologies and allows space for other species as agents and co-participants in shaping niches, physiologies and futures.

* Co-sponsored by the Department of Biology and the Department of Psychology

With Reservations: Native Americans’ Complex Relationship with Medical/Genetics Research

Puneet Chawla Sahota (Penn Post-Doc)
10/3/2013                *in Rm. 345

This presentation will examine how competing desires shaped the multi-faceted relationship between a Southwestern Native American community and biomedical/genetics research. Tribal members navigated tensions between their desire for a solution to the diabetes epidemic versus a desire to maintain the integrity of community “traditions.” Tribal members reacted in divergent ways to previous research studies reporting that Native Americans had genetic risk factors for diabetes. Some interviewees felt fatalistic about developing diabetes as a result, while others were motivated to try to prevent the disease. Community members who had participated in past medical/genetics research studies viewed these studies as a critical source of health care, particularly for diabetes prevention and management. However, community members who identified as “traditional people” also commonly wanted biological specimens collected for research to be returned and/or disposed of in a ceremonial manner. During the fieldwork period, the tribal community formalized its unique partnership with a genetics research institute through a contract stipulating shared intellectual property rights for the tribe and the institute. Through taking control of biological specimens/data and research more broadly, tribal members are tightening the boundaries around their community and seeking to maintain its physical and cultural integrity.