Genome-Wide Linkage Scan of Bipolar Disorder in a Colombian Population Isolate Replicates Loci on Chromosomes 7p21–22, 1p31, 16p12 and 21q21–22 and Identifies a Novel Locus on Chromosome 12q

ABSTRACT: Background/Aims: Bipolar disorder (BP) is a severe psychiatric illness, characterised by alternating episodes of depression and mania, which ranks among the top ten causes of morbidity and life-long disability world-wide. We have previously performed a whole-genome linkage scan on 6 pedigrees segregating severe BP from the well-characterised population isolate of Antioquia, Colombia. We recently collected genotypes for the same set of 382 autosomal microsatellite markers in 9 additional Antioquian BP pedigrees. Here, we report the analysis of the combined pedigree set. Methods: Linkage analysis using both parametric and nonparametric approaches was conducted for 3 different diagnostic models: severe BP only (BPI); mood disorders (BPI, BPII and major depression); and psychosis (operationally defined by the occurrence of at least 1 episode of hallucinations and/or delusions). Results and Conclusion: For BPI only, the most interesting result was obtained for chromosome 7p21.1–p22.2 under a recessive model of inheritance (heterogeneity LOD score = 2.80), a region that had previously been linked to BP in a study on Portuguese Island families. For both BPI and mood disorders, nonparametric analyses identified a locus on chromosome 12ct–q14 (nonparametric linkage = 2.55 and 2.35, respectively). This locus has not previously been reported as a candidate region for BP. Additional candidate regions were found on chromosomes 1p22–31 (mood disorders) and 21q21–22 (BPI), 2 loci that have repeatedly been implicated in BP susceptibility. Linkage analysis of psychosis as a phenotype identified candidate regions on chromosomes 2q24–31 and 16p12–q12. The finding on chromosome 16p is noteworthy because the same locus has been implicated by genome-wide association analyses of BP.

• Autores: García Valencia, Jenny; Parra Marín, María Victoria; Duque Vélez, Constanza Elena; Vega Parra, Jorge Arturo; Montoya Guerra, Claudia Patricia; López Tobón, María Cecilia; Bedoya Berrío, Gabriel de Jesús; Palacio Acosta, Carlos Alberto; López Jaramillo, Carlos Alberto; Ospina Duque, Jorge; Ruíz Linares, Andrés; Kremeyer, Barbara; Müller, H.; Burley, W.; Herzberg, Ibi; Freimer, Nelson; Reus, Victor
• Tipo de recurso: Article of investigation
• Fecha de publicación: 2010
• Institución: Universidad de Antioquia
• Repositorio: Repositorio UdeA
• Idioma: eng
• OAI Identifier: oai:bibliotecadigital.udea.edu.co:10495/41529
• Acceso en línea: https://hdl.handle.net/10495/41529
• Palabra clave: Mapeo Cromosómico; Chromosome Mapping; Adolescente; Adolescent; Trastorno Bipolar - genética; Bipolar Disorder - genetics; Cromosomas Humanos Par 1; Chromosomes, Human, Pair 1; Cromosomas Humanos Par 16; Chromosomes, Human, Pair 16; Cromosomas Humanos Par 21; Chromosomes, Human, Pair 21; https://id.nlm.nih.gov/mesh/D002891; Cromosomas Humanos Par 7; Chromosomes, Human, Pair 7; Colombia; Ligamiento Genético; Genetic Linkage; https://id.nlm.nih.gov/mesh/D002874; https://id.nlm.nih.gov/mesh/D000293; https://id.nlm.nih.gov/mesh/D001714; https://id.nlm.nih.gov/mesh/D002878; https://id.nlm.nih.gov/mesh/D002885; https://id.nlm.nih.gov/mesh/D002897; https://id.nlm.nih.gov/mesh/D003105; https://id.nlm.nih.gov/mesh/D008040
• Rights: openAccess
• License: http://creativecommons.org/licenses/by-nc/2.5/co/