부산대학교 도서관

Family studies are widely used for research into genetic and environmental influences on human traits. In this paper, we establish statistical methodology for the estimation of a new measure of sib similarity with respect to dichotomous traits measured on each member of within family sib-pair. We call this parameter "excess risk." For inference problems involving a single sample, we construct a large sample confidence interval on the concerned parameter. It has long been suspected that consanguinity is a risk factor for many genetic defects. Therefore, we establish a procedure to test the significance of the difference between excess risk parameters in a sample of consanguineous marriages and another sample of non-consanguineous marriages. We apply the methodology to data from a hospital-based congenital heart defects registry in Saudi Arabia, a population in which consanguinity is quite common.