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Biological anthropology and genetic disease research Introduction.

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Biological Anthropology and Genetic Disease Research:
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
Two themes can be traced through the papers presented in this issue: the interplay of
biology and culture in the distribution of ge-
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
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.
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introduction, research, biological, Anthropology, disease, genetics
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