Predisposition locus for major depression at chromosome 12q22-12q23.2

Am J Hum Genet. 2003 Dec;73(6):1271-81. doi: 10.1086/379978. Epub 2003 Nov 5.


Major depression disorder is a common psychiatric disease with a major economic impact on society. In many cases, no effective treatment is available. The etiology of major depression is complex, but it is clear that the disease is, to a large extent, determined genetically, especially among individuals with a familial history of major depression, presumably through the involvement of multiple predisposition genes in addition to an environmental component. As a first step toward identification of chromosomal loci contributing to genetic predisposition to major depression, we have conducted a genomewide scan by using 628 microsatellite markers on 1,890 individuals from 110 Utah pedigrees with a strong family history of major depression. We identified significant linkage to major depression in males at marker D12S1300 (multipoint heterogeneity LOD score 4.6; P=.00003 after adjustment for multiple testing). With additional markers, the linkage evidence became highly significant, with the multipoint heterogeneity LOD score at marker D12S1706 increasing to 6.1 (P=.0000007 after adjustment for multiple testing). This study confirms the presence of one or more genes involved in psychiatric diseases on the q arm of chromosome 12 and provides strong evidence for the existence of a sex-specific predisposition gene to major depression at 12q22-q23.2.

Publication types

  • Comparative Study

MeSH terms

  • Chromosome Mapping
  • Chromosomes, Human, Pair 12 / genetics*
  • Depressive Disorder, Major / genetics*
  • Genetic Linkage / genetics*
  • Genetic Testing
  • Genome, Human
  • Humans
  • Microsatellite Repeats / genetics
  • Pedigree
  • Utah