AMERICAN JOURNAI, OF PHYSICAL ANTHROPOLOGY 6 2 - 2 (19831 Biological Anthropology and Genetic Disease Research: Introduction DENNIS H. O’ROURKE AND GLORIA M. PETERSEN Department o f Anthropology, Uniuersity o f Utah, Salt Lake City, Utah 84112 /D.H.O.i, and Diursion o f Medical Genetics, Harbor-CJCLA Medical Center, Torrance. California 90509 IG.M.P.I Biological anthropologists have long been interested in the evolution of diseases and their impact on the course of human evolution itself. Recently, biological anthropologists have utilized their unique evolutionary perspective in approaches to disease etiology. In focusing on genetic disease, they share concerns with human geneticists, and encourage the use of newer, more sophisticated genetic analytic techniques. They are also afforded opportunities to explore data bases, particularly biomedical research-generated clinical data, formerly outside the anthropological domain. As methodology and technology in biomedicine have developed, so too have the nonclinical ramifications. In a n effort to emphasize this growing research area within our discipline, we organized symposia for the Fifty-First Annual Meeting of the American Association of Physical Anthropologists, held April 1-3, 1982, in Eugene, Oregon. One of our specific aims was to stress the potential of the interface between biological anthropology and genetic disease research. Although planned independently, every effort was made to make the symposia contents complementary. The diversity of approach and application underscores the extent to which biological anthropology can both contribute to and benefit from recent developments in genetic disease research. One symposium, Genetic Analysis of Human Disease: Application to Clinical and Population Data (organized by D.H.O.), was structured to emphasize the growing use of genetic analytic techniques and broadening of data bases which are characteristic of this field of inquiry. The other symposium, Genetic Disease Research: The Evolutionary Perspective (organized by G.M.P.), was designed to bring attention to the contributions that anthropological and evolutionary approaches can make to understanding genetic diseases. Two themes can be traced through the papers presented in this issue: the interplay of biology and culture in the distribution of ge- 1983 ALAN R LISS. INC netic disease, and the evolutionary implications of genetic diseases. Both themes are of special interest to anthropologists, and they merit consideration in genetic disease research. The contributions of Morgan et al. and Mueller and Pollit utilize a population-based approach for the study of disease distribution and etiology. The study by Morgan e t al. stresses the importance of careful epidemiologic investigations as preparatory to genetic analysis, by examining the patterns of cancer incidence in a Canadian religious isolate based on ascertainment through a population registry. Mueller and Pollitt present the novel use of the analysis of familial correlations for physical growth parameters to aid in assessing malnutrition. In a further illustration of methods employed to examine genetic and environmental contributions to complex phenotypes, Rao and colleagues utilize the method of path coefficients to assess risk factors in coronary heart disease, and as a method for comparing the results of three independent family studies. Alternatively, Jorde et al. demonstrate the utility of large pedigree analysis, based on the Utah Genealogical Data Base, to examine the distribution and mode of transmission of neural tube disorders in a large, relatively homogeneous population. The studies by O’Rourke e t al. and by Suarez and Pierce illustrate not only the diversity of genetic analytic techniques available, but how well data, seldom employed by biological anthropologists, can be utilized. Suarez and Pierce take a distinctly genetic approach t o study the transmission properties of a single locus that is associated with several related but discrete disease entities. Conversely, O’Rourke et al. use a variety of genetic analytic techniques to attempt to elucidate genetic mechanisms in the Received August 5, 1982. accepted March 16, 1983 2 D.H. O’ROURKE AND G.M. PETERSEN formation of a complex behavioral phenotype. There are significant evolutionary implications of genetic disease: the impact of genetic disorders on human evolution, the evolution of the disease itself, and its interaction with human culture are important issues for physical anthropology. The theoretical contribution by Yokoyama places the study of disease distribution and etiology within an evolutionary framework through the mechanism of social selection. The papers by Petersen and Rotter on peptic ulcer disease, and Strober on glutensensitive enteropathy, postulate an interaction between human culture and infectious agents on the increase in frequency of genes predisposing to disease states. Knowler examines the relationship of shifts in Pima Indian cultural practices as they affected the development of diabetes mellitus. Using data comparing the migrant and nonmigrant populations on Tokelau, Ward discusses the gentic, environmental, and cultural effects on high blood pressure. Petrakis suggests that the wet/dry cerumen polymorphism found in different racial groups may be an indicator of predisposition to breast disease. Finally, Thomson discusses the highly polymorphic HLA system as an important focus for analyzing disease associations and evolutionary patterns, using ankylosing spondylitis as an example. In his contribution, Derek Roberts presents an overview of the issues presented in a number of the studies in this volume. The synthesis provided in his study is of major importance for our field. The cross-fertilization of biological anthropology and genetic epidemiology can only be mutually beneficial. Biological anthro- pology contributes a unique perspective from its traditional concerns with human population structure and evolutionary dynamics; it can benefit tremendously from the advanced analytic techniques and broader data bases. Further, by changing our perception of phenotype, and taking a more encompassing view of variation, more realistic and profitable approaches to the study of gene-environment interaction and covariation may be achieved. Finally, two rather more practical benefits of this disciplinary cross-fertilization should be mentioned. First, genetic disease research is multidisciplinary almost by necessity. This is especially true in the area of applied medical research. The nature of interdisciplinary collaborative research fosters the exchange of ideas, approaches, and techniques which are frequently synergistic, such that the result is superior to that which could have been achieved by any single investigator. Although collaborative research is not new to biological anthropology, a concerted approach in genetic disease research provides many more opportunities for investigation. Second, in a period of decline in funding for research in the traditional domain of physical anthropology, exploring areas in the biomedical sciences to which biological anthropologists can make significant contributions is appropriate. The greatest advances in scientific understanding were made by those who took the threads of diverse avenues of investigation and wove them into a broader synthesis. We believe the time is ripe to demonstrate the potential for biological anthropologists to be in the vanguard of this development.