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Using Affected Sibling Pairs to Distinguish the Direct Effect of a Susceptibility Gene and the Indirect Effect of Linkage Disequilibrium
Author(s) -
Lee W.C.
Publication year - 2003
Publication title -
annals of human genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.537
H-Index - 77
eISSN - 1469-1809
pISSN - 0003-4800
DOI - 10.1046/j.1469-1809.2003.00018.x
Subject(s) - linkage disequilibrium , genetics , disequilibrium , sibling , allele , transmission disequilibrium test , biology , linkage (software) , gene , haplotype , psychology , medicine , developmental psychology , ophthalmology
Summary A positive result for a transmission/disequilibrium test (TDT) can occur for two reasons: a) the allele itself is a cause of disease predisposition (direct effect); or b) the allele is in linkage disequilibrium with a disease‐causing gene (indirect effect). A test was proposed based on affected sibling pairs (ASPs) to distinguish between the two. Simulation showed that the test has the correct type I error rate and favourable power (power >50% for 50 ASPs; >75% for 100 ASPs; >85% for 150 ASPs). Making this distinction is important for setting the direction for subsequent studies following a positive TDT result.