Genetic etiology of nuclear cataract: Evidence for a major gene

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Abstract
Sibling correlations and segregation analysis were used to examine the familial distribution of age‐sex‐adgusted measures of nuclear sclerosis in 1,247 individuals from 564 sibships in the Beaver Dam Eye Study. There are highly significant sibling correlations for all sibs, and separately for sister‐sister, sister‐brother, and brother‐brother pairs. Two transformed normal distributions give the best fit to the data. The hypothesis of mendelian transmission of a major effect cannot be rejected, but the hypothesis of a random environmental major effrect is rejectd. The parameters of the τABfree model showed close similarity to the values expected under a mendelian hypothesis. Our results suggest that a single major gene can account for 35% of the total variability of age‐sex‐adjusted measures of nuclear sclerosis.