paperKB
coga / coga-kb
Help
Sign in

Chunk #19 — Results — Replication

Source
Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia.
Embedded
yes

Text

When the top association signals from the PGC ASD GWAS (P < 10−4) were meta-analysed against the Danish iPSYCH data a single GWS association was observed for rs1409313-T (OR = 1.12 (95% CI 1.08–1.16); P = 1.058 × 10−8). This marker has previously been implicated as a paternally inherited risk marker for ASD within the Simons Simplex Collection (SSC) data [25]. The SSC is not independent as the PGC ASD GWAS data as these individuals are included within our analyses. Examination of the LD between adjacent associated markers and rs1409313 using the clump routine in PLINK, reveals that rs1409313 is correlated with nominally associated markers across a 405 kb region on chromosome 10q24.32 that includes 13 genes (C10orf76, CUEDC2, ELOVL3, FBXL15, GBF1, HPS6, LDB1, MIR146B, NFKB2, NOLC1, PITX3, PPRC1, and PSD). A summary linkage disequilibrium locus plot of these data is shown in Fig. 2.