GENES IN IDIOPATHIC CALCIUM-OXALATE STONE DISEASE

An examination of the urinary excretions of 101 normal subjects indica ted that the major genetic influence on calcium excretion is a codomin ant pair of alleles giving rise to three phenotypes, low, intermediate and high (hypercalciuric) excretors. This inference was based on vari ance, Hardy-Weinberg and segregation analyses. Similar independent gen e pairs also appear to influence oxalate and citrate excretion, A 3-lo cus Hardy-Weinberg table using estimates of gene frequencies derived f rom the study of normals suggests that only 3 or 4 leading genes are i nvolved in oxalate stone disease. Strong candidate genes identified fr om molecular and physiological studies cannot be proposed at present, but it is assumed that they influence the transport of these ions in e ither the intestine, kidney or both organs. The identification of the genes involved should be facilitated by the reduction of dietary influ ences on urinary excretions through the use of formula diets.