Diabetes mellitus: a “thrifty” genotype rendered detrimental by “progress”?

JV Neel - American journal of human genetics, 1962 - ncbi.nlm.nih.gov
JV Neel
American journal of human genetics, 1962ncbi.nlm.nih.gov
FOR THE POPULATION GENETICIST, diabetes mellitus has long presented an enigma.
Here is a relatively frequent disease, often interfering with reproduction by virtue of an onset
during the reproductive or even pre-reproductive years, with a well-defined genetic basis,
perhaps as simple in many families as a single recessive or incompletely recessive gene (cf.
Allan, 1933; Pincus and White, 1933, 1934; Harris, 1950; Steinberg and Wilder, 1952; Lamy,
Frezal and de Grouchy, 1957; Steinberg, 1959; Post, 1962a). If the considerable frequency …
FOR THE POPULATION GENETICIST, diabetes mellitus has long presented an enigma. Here is a relatively frequent disease, often interfering with reproduction by virtue of an onset during the reproductive or even pre-reproductive years, with a well-defined genetic basis, perhaps as simple in many families as a single recessive or incompletely recessive gene (cf. Allan, 1933; Pincus and White, 1933, 1934; Harris, 1950; Steinberg and Wilder, 1952; Lamy, Frezal and de Grouchy, 1957; Steinberg, 1959; Post, 1962a). If the considerable frequency of the disease is of relatively long duration in the history of our species, how can this be accounted for in the face of the obvious and strong genetic selection against the condition? If, on the other hand, this frequency is a relatively recent phenomenon, what changes in the environment are responsible for the increase? Current developments in the study of this disease suggest an explanation with important biological ramifications.
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