THE GENETICS OF GOUT AND HYPERURICEMIA—AN ANALYSIS OF NINETEEN FAMILIES

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Abstract
Data are presented on 87 relatives of 19 gouty male patients. Hyperuricemia in these families is apparently due to a single autosomal dominant gene, but only a portion of the heterozygotes for this factor develop recognized gouty arthritis. Sex and age are also significant factors affecting the level of serum urate, and these factors must be taken into account in classifying relatives into "normal" and "hyperuricemic" groups. Males who possess the abnormal hereditary factor apparently seldom develop marked hyperuricemia before the age of puberty. When males under 16 yrs. of age are disregarded, the proportions of hyperuricemic male relatives approach those expected on the assumption that heterozygotes are invariably hyperuricemic. By reducing the critical level for hyperuricemia from 6 mg. % in males to 5 mg. % in females, the proportions of hyperuricemic females still fall somewhat short of the expected values. It is shown that the gene for essential hyperuricemia must be considerably more common than one might suspect from the incidence of clinical gout, and that homozygotes for this gene should therefore be observed occasionally.

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