Ae. Pulver et al., FOLLOW-UP OF A REPORT OF A POTENTIAL LINKAGE FOR SCHIZOPHRENIA ON CHROMOSOME 22Q12-Q13.1 .2., American journal of medical genetics, 54(1), 1994, pp. 44-50
A collaboration involving four groups of investigators (Johns Hopkins
University/Massachusetts Institute of Technology; Medical College of V
irginia/The Health Research Board, Dublin; Institute of Psychiatry, Lo
ndon/University of Wales, Cardiff; Centre National de la Recherche Sci
entifique, Paris) was organized to confirm results suggestive of a sch
izophrenia susceptibility locus on chromosome 22 identified by the JHU
/MIT group after a random search of the genome. Diagnostic, laboratory
, and analytical reliability exercises were conducted among the groups
to ensure uniformity of procedures. Data from genotyping of 3 dinucle
otide repeat polymorphisms (at the loci D22S268, IL2RB, D22S307) for a
combined replication sample of 256 families, each having 2 or more af
fected individuals with DNA, were analysed using a complex autosomal d
ominant model. This study provided no evidence for linkage or heteroge
neity for the region 22q12-q13 under this model. We conclude that if t
his region confers susceptibility to schizophrenia, it must be in only
a small proportion of families. Collaborative efforts to obtain large
samples must continue to play an important role in the genetic search
for clues to complex psychiatric disorders such as schizophrenia. (C)
1994 Wiley-Liss, Inc.