Initial genome scan of the NIMH genetics initiative bipolar pedigrees: chromosomes 4, 7, 9, 18, 19, 20, and 21q

Am J Med Genet. 1997 May 31;74(3):254-62. doi: 10.1002/(sici)1096-8628(19970531)74:3<254::aid-ajmg4>;2-q.


An initial genome scan was performed on 540 individuals from 97 families segregating bipolar disorder, collected through the National Institutes of Mental Health Genetics Initiative. We report here affected-sib-pair (ASP) data on 126 marker loci (approximately 68,000 genotypes) mapping to chromosomes 4, 7, 9, 18, 19, 20, and 21q, under three affection status models. Modest increases in identical-by-descent (IBD) allele sharing were found at the following loci: D4S2397 and D4S391 (P < 0.05) on 4p, D4S1647 (P < 0.05) on 4q, D7S1802 and D7S1869 (low P = 0.01) on 7p, D9S302 (P = 0.004) on 9q, and D20S604 on 20p and D20S173 on 20q (P < 0.05). In addition, five markers on 7q displayed increased IBD sharing (P = 0.046-0.002). Additional ASP analyses on chromosomes 18 and 21q marker data were performed using disease phenotype models defined previously. On chromosome 18, only D18S40 on 18p and D18S70 on 18q yielded a slight elevation in allele sharing (P = 0.02), implying that the reported linkages in these regions were not confirmed. On chromosome 21q, a cluster of markers within an approximately 9 cM interval: D21S1254, D21S65, D21S1440, and D21S1255 exhibited excess allele sharing (P = 0.041-0.008). Multilocus data on overlapping marker quartets, from D21S1265 to D21S1255, which were consistent with increased IBD sharing (P < 0.01, with a low of 0.0009), overlapped a broad interval of excess allele sharing reported previously, increasing support for a susceptibility locus for bipolar disorder on 21q.

Publication types

  • Multicenter Study
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Alleles
  • Bipolar Disorder / genetics*
  • Chromosome Mapping
  • Chromosomes, Human, Pair 18
  • Chromosomes, Human, Pair 19
  • Chromosomes, Human, Pair 20
  • Chromosomes, Human, Pair 21
  • Chromosomes, Human, Pair 4
  • Chromosomes, Human, Pair 7
  • Chromosomes, Human, Pair 9
  • Female
  • Genetic Linkage*
  • Genetic Markers*
  • Genome, Human
  • Genotype
  • Humans
  • Male
  • National Institute of Mental Health (U.S.)
  • Nuclear Family
  • Pedigree
  • United States


  • Genetic Markers