title: Bipolar disorder susceptibility region on Xq24-q27.1 in Finnish families.
abstract: Bipolar disorder (BPD) is a common disorder characterized by episodes of mania, hypomania and depression. The genetic background of BPD remains undefined, although several putative loci predisposing to BPD have been identified. We have earlier reported significant evidence of linkage for BPD to chromosome Xq24-q27.1 in an extended pedigree from the late settlement region of the genetically isolated population of Finland. Further, we established a distinct chromosomal haplotype covering a 19 cM region on Xq24-q27.1 co-segregating with the disorder. Here, we have further analyzed this X-chromosomal region using a denser marker map and monitored X-chromosomal haplotypes in a study sample of 41 Finnish bipolar families. Only a fraction of the families provided any evidence of linkage to this region, suggesting that a relatively rare gene predisposing to BPD is enriched in this linked pedigree. The genome-wide scan for BPD predisposing loci in this large pedigree indicated that this particular X-chromosomal region provides the best evidence of linkage genome-wide, suggesting an X-chromosomal gene with a major role for the genetic predisposition of BPD in this family.
authors.affiliation: Department of Molecular Medicine, National Public Health Institute, Helsinki Finland.
authors.forename: J M
authors.initials: JM
authors.lastname: Ekholm
authors.forename: P
authors.initials: P
authors.lastname: Pekkarinen
authors.forename: P
authors.initials: P
authors.lastname: Pajukanta
authors.forename: T
authors.initials: T
authors.lastname: Kieseppä
authors.forename: T
authors.initials: T
authors.lastname: Partonen
authors.forename: T
authors.initials: T
authors.lastname: Paunio
authors.forename: T
authors.initials: T
authors.lastname: Varilo
authors.forename: M
authors.initials: M
authors.lastname: Perola
authors.forename: J
authors.initials: J
authors.lastname: Lönnqvist
authors.forename: L
authors.initials: L
authors.lastname: Peltonen
mesh_terms: D001714:Bipolar Disorder / Q000453:epidemiology* / Q000235:genetics*; D002874:Chromosome Mapping; D041321:Chromosomes, Human, X; D005190:Family; D005260:Female; D005387:Finland / Q000453:epidemiology; D005819:Genetic Markers; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006239:Haplotypes; D006801:Humans; D008297:Male; D012042:Registries; D018709:Statistics, Nonparametric; D044465:White People
chemical_list: D005819:Genetic Markers