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Chunk #19 — Results — Single variant (GWAS and meta-analyses), gene and pathway analyses

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Largest GWAS of PTSD (N=20 070) yields genetic overlap with schizophrenia and sex differences in heritability.
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In the AA meta-analysis, one variant on chromosome 13 exceeded genome-wide significance (rs139558732, OR=2.19, P=3.33 × 10−8). This SNP and nearby variants were not present for analysis in the EA and LA studies because of low frequency (MAF ⩽1%) in those populations. The variant was present in the two South African data sets, and was no longer genome-wide significant in the transethnic meta-analysis (OR=2.05, P=1.31 × 10−07, only AA and South African data sets contributing data). To further investigate the possibility that this chromosome 13 locus in the KLHL1 gene (see Supplementary Figure S3 for regional plot in AA meta-analysis) was associated with PTSD in AA individuals, we requested data from the Army STARRS consortium, and meta-analyzed results from their data and ours.35 Doing so also resulted in loss of genome-wide significance for rs139558732 (OR=1.90, P=1.0 × 10−06). Thus, despite nominally achieving genome-wide significance in the AA meta-analyses, we do not report rs139558732 as a PTSD risk variant.