title: Findings in an independent sample support an association between bipolar affective disorder and the G72/G30 locus on chromosome 13q33.
abstract: Markers near the nested genes G72 and G30 on chromosome 13q33 have been implicated in the etiology of schizophrenia and, recently, bipolar affective disorder (BPAD). Hattori et al (2003) reported that single-nucleotide polymorphisms (SNPs) near the G72/G30 locus were associated with BPAD in a sample of 22 pedigrees, and that SNP haplotypes were associated in a second, larger sample of triads. The present study attempts to replicate this finding in an independent case-control sample. Six SNPs near the G72/G30 locus, including the most strongly associated markers in the previous study, were tested in 139 cases and 113 ethnically matched controls. Significant association was detected between BPAD and two adjacent SNPs (smallest P=0.007; global P=0.024). Haplotype analysis produced additional support for association (smallest P=0.004; global P=0.004). Analysis of 31 unlinked microsatellite markers detected no population stratification in the cases or controls studied. Although the associated alleles and haplotypes differ from those previously reported, these new results provide further evidence, in an independent sample, for an association between BPAD and genetic variation in the vicinity of the genes G72 and G30.
authors.affiliation: Department of Human Genetics, The University of Chicago, Chicago, IL, USA.
authors.forename: Y-S
authors.initials: YS
authors.lastname: Chen
authors.forename: N
authors.initials: N
authors.lastname: Akula
authors.forename: S D
authors.initials: SD
authors.lastname: Detera-Wadleigh
authors.forename: T G
authors.initials: TG
authors.lastname: Schulze
authors.forename: J
authors.initials: J
authors.lastname: Thomas
authors.forename: J B
authors.initials: JB
authors.lastname: Potash
authors.forename: J R
authors.initials: JR
authors.lastname: DePaulo
authors.forename: M G
authors.initials: MG
authors.lastname: McInnis
authors.forename: N J
authors.initials: NJ
authors.lastname: Cox
authors.forename: F J
authors.initials: FJ
authors.lastname: McMahon
mesh_terms: D001714:Bipolar Disorder / Q000235:genetics*; D016022:Case-Control Studies; D002882:Chromosomes, Human, Pair 13; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D006239:Haplotypes; D006801:Humans; D015810:Linkage Disequilibrium; D012150:Polymorphism, Restriction Fragment Length; D020641:Polymorphism, Single Nucleotide