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Chunk #27 — Genotype-Sex Interaction Effects in Humans — Example 2: Schizophrenia

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Sex-specific genetic architecture of human disease.
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To confirm that rs7341475 is a female-specific risk factor for schizophrenia, the investigators assessed whether the GG genotype was increased in women with schizophrenia in four other samples from the U.K., U.S., Ireland, and China The predicted direction of effect was present in all the samples, but differences were only significant in the U.K. sample (Table 2). In the combined samples (with and without the primary Ashkenazi Jewish sample), the recessive (GG) genotype was a significant risk factor for schizophrenia in females only (Figure 2, panel D).