The Genetics of Gout and Hyperuricemia—an Analysis of Nineteen Families

Genome-wide search for genes affecting serum uric acid levels: the Framingham Heart Study

“…Results from segregation analyses are inconsistent, and it is uncertain if there is a major gene that determines levels of serum uric acid. Early studies suggested a major gene effect [15,16], but more recent data support a multifactorial inheritance from multiple major genes and environmental factors [9,11,13,14]. Suggestive linkage to serum uric acid levels has been demonstrated on chromosome 2, near a locus for the metabolic syndrome [17].…”

Genetics of Hyperuricaemia in Blackfeet and Pima Indians

“…In neither case did the data fit simple genetic models well. Smyth, Cotterman, and Freyberg (1948) concluded it to be inherited as a simple monofactorial dominant in which only a portion of the heterozygotes manifested the trait, while Stecher, Hersh, and Solomon (1949) concluded it to be dominant with varying penetrance in some families and recessive with varying penetrance in others. The metric character of the trait and the necessity of invoking penetrance casts doubt on the hypothesis of simple inheritance.…”

Clinical experiences

“…Initially they discussed the hereditary nature of gout in 2 families (17) and a few years later published a detailed analysis of 19 families (18). They concluded that the hyperuricemia was apparently due to a single autosomal dominant gene.…”