A genome screen for genes predisposing to bipolar affective disorder detects a new susceptibility locus on 8q

Hum Mol Genet. 2001 Dec 1;10(25):2933-44. doi: 10.1093/hmg/10.25.2933.

Abstract

Bipolar affective disorder (BPAD), also known as manic depressive illness, is a severe psychiatric disorder characterized by episodes of mania and depression. It has a lifetime prevalence of approximately 1% in all human populations. In order to identify chromosomal regions containing genes that play a role in determining susceptibility to this psychiatric condition, we have conducted a complete genome screen with 382 markers (average marker spacing of 9.3 cM) in a sample of 75 BPAD families which were recruited through an explicit ascertainment scheme. Pedigrees were of German, Israeli and Italian origin, respectively. Parametric and non-parametric linkage analysis was performed. The highest two-point LOD score was obtained on 8q24 (D8S514; LOD score = 3.62), in a region that has not attracted much attention in previous linkage studies of BPAD. The second best finding was seen on 10q25-q26 (D10S217; LOD score = 2.86) and has been reported in independent studies of BPAD. Other regions showing 'suggestive' evidence for linkage localized to 1p33-p36, 2q21-q33, 3p14, 3q26-q27, 6q21-q22, 8p21, 13q11 and 14q12-q13. In addition, we aimed at detecting possible susceptibility loci underlying genomic imprinting by analyzing the autosomal genotype data with the recently developed extension of the GENEHUNTER program, GENEHUNTER-IMPRINTING. Putative paternally imprinted loci were identified in chromosomal regions 2p24-p21 and 2q31-q32. Maternally imprinted susceptibility genes may be located on 14q32 and 16q21-q23.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Bipolar Disorder / genetics*
  • Chromosome Mapping
  • Chromosomes, Human, Pair 14 / genetics
  • Chromosomes, Human, Pair 16 / genetics
  • Chromosomes, Human, Pair 2 / genetics
  • Chromosomes, Human, Pair 8 / genetics*
  • DNA / analysis
  • Female
  • Genetic Predisposition to Disease
  • Genetic Testing
  • Genomic Imprinting
  • Genotype
  • Humans
  • Leukocytes / physiology
  • Lod Score
  • Male
  • Microsatellite Repeats
  • Nuclear Family
  • Pedigree
  • Phenotype
  • Veins / physiology

Substances

  • DNA