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Sex differences in schizophrenia are well known, but their genetic basis has not been identified. We performed a genome-wide association scan for schizophrenia in an Ashkenazi Jewish population using DNA pooling. We found a female-specific association with rs7341475, a SNP in the fourth intron of the reelin (RELN) gene (p = 2.9 x 10(-5) in women), with a significant gene-sex effect (p = 1.8 x 10(-4)). We studied rs7341475 in four additional populations, totaling 2,274 cases and 4,401 controls. A significant effect was observed only in women, replicating the initial result (p = 2.1 x 10(-3) in women; p = 4.2 x 10(-3) for gene-sex interaction). Based on all populations the estimated relative risk of women carrying the common genotype is 1.58 (p = 8.8 x 10(-7); p = 1.6 x 10(-5) for gene-sex interaction). The female-specific association between RELN and schizophrenia is one of the few examples of a replicated sex-specific genetic association in any disease.

Original publication

DOI

10.1371/journal.pgen.0040028

Type

Journal article

Journal

PLoS Genet

Publication Date

02/2008

Volume

4

Keywords

Adult, Alleles, Asian Continental Ancestry Group, Case-Control Studies, Cell Adhesion Molecules, Neuronal, European Continental Ancestry Group, Extracellular Matrix Proteins, Female, Gene Frequency, Genetic Predisposition to Disease, Genetic Variation, Genome, Human, Humans, Introns, Jews, Male, Middle Aged, Nerve Tissue Proteins, Odds Ratio, Polymorphism, Single Nucleotide, Risk Factors, Schizophrenia, Serine Endopeptidases, Sex Characteristics