Relative risks of diseases in the presence of incomplete penetrance and sporadics
作者:
Partha P. Majumder,
Ranajit Chakraborty,
Kenneth M. Weiss,
期刊:
Statistics in Medicine
(WILEY Available online 1983)
卷期:
Volume 2,
issue 1
页码: 13-24
ISSN:0277-6715
年代: 1983
DOI:10.1002/sim.4780020103
出版商: Wiley Subscription Services, Inc., A Wiley Company
关键词: Relative risk;Genetic epidemiology;Incomplete penetrance;Sporadics
数据来源: WILEY
摘要:
AbstractIn most diseases of contemporary interest to epidemiology, the importance of familial risk factors is often assessed by relative risk measures computed from family history data. In this paper, we examine the efficiency of relative risk measures in discerning the genetic background of a disease. It is shown that even for a simple (one locus, two alleles) genetic disease, incomplete penetrance of the disease allele and/or occurrence of sporadics (i.e. non‐heritable cases caused by environmental risk factors) often yields a rather small value of relative risk. This means that a small value of relative risk need not necessarily imply that genetic factors are unimportant in the aetiology of the disease. Furthermore, it is shown that the relative risk measures are complicated functions of disease gene frequency, the penetrance parameter and the sporadic rate. A rejection of genetic involvement for a disease on the basis of a single relative risk estimate may, therefore, be erroneou
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