A genetic study of hypoalphalipoproteinemia.
Complex segregation analysis under the unified mixed model of inheritance (major gene and multifactorial) is performed on families ascertained through 23 probands with hypoalphalipoproteinemia (depressed HDL-cholesterol, denoted HDL-c). Evidence for segregation of a recessive major gene for depressed HDL-c with frequency q = 0.116, in addition to multifactorial transmission (H = 0.572), is found in these families. Reanalysis of a subset of families with severely depressed HDL-c confirms the conclusions based on the original analysis, except that different definitions of "affection" give rise to different estimates of gene frequency. Our finding of a recessive mode of inheritance differs from previous claims for a dominant gene because previous analyses did not use a mixed model for segregation analysis of hypoalphalipoproteinemia. When the significant multifactorial background is neglected, we also find evidence for the invalid claim of a dominant gene. This demonstrates the necessity of using mixed models for determining the mode of inheritance of a given phenotype.
D008076:Cholesterol, HDL / Q000172:deficiency; D005260:Female; D005787:Gene Frequency; D005808:Genes, Recessive; D006801:Humans; D007009:Hypolipoproteinemias / Q000235:genetics*; D008297:Male; D008957:Models, Genetic; D013631:Tangier Disease / Q000235:genetics*
D008076:Cholesterol, HDL