A schizophrenia-susceptibility locus at 6q25, in one of the world's largest reported pedigrees

Am J Hum Genet. 2001 Jul;69(1):96-105. doi: 10.1086/321288. Epub 2001 May 25.

Abstract

We have completed a genome scan of a 12-generation, 3,400-member pedigree with schizophrenia. Samples from 210 individuals were collected from the pedigree. We performed an "affecteds-only" genome-scan analysis using 43 members of the pedigree. The affected individuals included 29 patients with schizophrenia, 10 with schizoaffective disorders, and 4 with psychosis not otherwise specified. Two sets of white-European allele frequencies were used-one from a Swedish control population (46 unrelated individuals) and one from the pedigree (210 individuals). All analyses pointed to the same region: D6S264, located at 6q25.2, showed a maximum LOD score of 3.45 when allele frequencies in the Swedish control population were used, compared with a maximum LOD score of 2.59 when the pedigree's allele frequencies were used. We analyzed additional markers in the 6q25 region and found a maximum LOD score of 6.6 with marker D6S253, as well as a 6-cM haplotype (markers D6S253-D6S264) that segregated, after 12 generations, with the majority of the affected individuals. Multipoint analysis was performed with the markers in the 6q25 region, and a maximum LOD score of 7.7 was obtained. To evaluate the significance of the genome scan, we simulated the complete analysis under the assumption of no linkage. The results showed that a LOD score >2.2 should be considered as suggestive of linkage, whereas a LOD score >3.7 should be considered as significant. These results suggest that a common ancestral region was inherited by the affected individuals in this large pedigree.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Age of Onset
  • Alleles
  • Case-Control Studies
  • Chromosome Mapping
  • Chromosomes, Human, Pair 6 / genetics*
  • Computer Simulation
  • Female
  • Gene Frequency / genetics
  • Genetic Linkage / genetics*
  • Genetic Predisposition to Disease / genetics*
  • Haplotypes / genetics
  • Humans
  • Lod Score
  • Male
  • Middle Aged
  • Pedigree
  • Polymorphism, Genetic / genetics
  • Schizophrenia / genetics*
  • Sweden