A single nucleotide polymorphism (rs7341475) in RELN has recently been shown to be associated with schizophrenia (SZ) in an Ashkenazi Jewish (AJ) case--control study specifically in women by Shifman et al. We have replicated this association in women in another large independent Ashkenazi Jewish collection (721 cases, 259 female; 1455 controls, 834 female) and confirmed that it applies to both SZ and schizoaffective disorder. Furthermore, we explore the effects of this polymorphism through quantitative trait loci analysis of nine SZ related factors providing information on sex-specific genotype--phenotype correlations.
aInstitute of Genetic Medicine
bDepartment of Psychiatry, Johns Hopkins University School of Medicine
Departments of cEpidemiology and
dBiostatistics, Johns Hopkins Bloomberg School of Public Health, Baltimore, Maryland, USA
Correspondence to Dr Dimitrios Avramopoulos, MD, PhD, Johns Hopkins University, 733 N. Broadway - BRB-509, Baltimore, MD 21205, USA
Tel: +1 410 955 8323; fax: +1 410 955 7397;
Received 6 October 2009 Revised 5 February 2010 Accepted 11 March 2010