Schizophrenia and the androgen receptor gene: Report of a sibship showing co-segregation with reifenstein syndrome but no evidence for linkage in 23 multiply affected families

Crow et al. [1993: Am J Med Genet (Neuro‐psychiatr Genet) 48:159–160] have reported excess sharing of alleles by male sibling pairs with schizophrenia, at a triplet repeat marker within the androgen receptor gene, indicating that mutations at or near this gene may be a risk factor for males. In this report, we describe a pair of male siblings concordant for both schizophrenia and Reifenstein syndrome, which is caused by a mutation in this gene. This provides support for the hypothesis that the androgen receptor may contribute to liability to develop schizophrenia. Because of this, we have examined a collection of 23 pedigrees multiply affected by schizophrenia for linkage to the androgen receptor. We have found no evidence for linkage by both the LOD score and affected sibling‐pair methods, under a range of genetic models with a broad and narrow definition of phenotype, and when families with male‐to‐male transmission are excluded. However, because of the small number of informative male‐male pairs in our sample, we cannot confirm or refute the excess allele sharing for males reported by Crow. © 1995 Wiley‐Liss, Inc.