title: Akaike's information criterion for a measure of linkage disequilibrium.
abstract: The extent and distribution of linkage disequilibrium ( LD) in humans is a current topic especially for gene mapping of complex diseases. Akaike's information criterion ( AIC) was applied to estimate LD and compared with other standard LD measures, D' and r(2). By comparison of an independent model (IM; linkage equilibrium) and a dependent model (DM; linkage disequilibrium), the parsimonious model is the one with the smaller AIC score. Therefore, the extent of LD by AIC is expressed as AIC( IM) -- AIC( DM)( AIC( LD)). A total of 39 single-nucleotide polymorphisms on a 1.6-Mb region of chromosome 21 q22 were identified, and genotyped in 192 Japanese individuals. All possible pairs were analyzed to estimate LD and the analyses were compared. AIC( LD) became highly positive as the D' value increased and was negative at D' values of around 0.2. Because a negative value of AIC( LD) implies linkage equilibrium, D' values below 0.2 should be regarded as linkage equilibrium. The LD estimate by AIC yielded results similar to those obtained by r(2), indicating that AIC( LD) would be useful for fine gene mapping.
authors.affiliation: Division of Genetic Diagnostics, The Institute of Medical Science, The University of Tokyo, Japan.
authors.forename: Kazuki
authors.initials: K
authors.lastname: Shimo-onoda
authors.forename: Toshihiro
authors.initials: T
authors.lastname: Tanaka
authors.forename: Kozo
authors.initials: K
authors.lastname: Furushima
authors.forename: Toshiaki
authors.initials: T
authors.lastname: Nakajima
authors.forename: Satoshi
authors.initials: S
authors.lastname: Toh
authors.forename: Seiko
authors.initials: S
authors.lastname: Harata
authors.forename: Kazunori
authors.initials: K
authors.lastname: Yone
authors.forename: Setsuro
authors.initials: S
authors.lastname: Komiya
authors.forename: Hiroki
authors.initials: H
authors.lastname: Adachi
authors.forename: Eiji
authors.initials: E
authors.lastname: Nakamura
authors.forename: Hitoshi
authors.initials: H
authors.lastname: Fujimiya
authors.forename: Ituro
authors.initials: I
authors.lastname: Inoue
mesh_terms: D000465:Algorithms; D002891:Chromosomes, Human, Pair 21 / Q000235:genetics*; D006801:Humans; D015810:Linkage Disequilibrium; D008957:Models, Genetic; D020641:Polymorphism, Single Nucleotide; D017422:Sequence Analysis, DNA