eQTL colocalization analysis highlights novel susceptibility genes in Autism Spectrum Disorders (ASD).

This analysis points up 8 genes with a significant eQTL colocalization signal in ASD ( CRHR1, KANSL1, MANBA, MAPT, MMP12, NKX2-2, PTPRE and WNT3 ) and one gene ( SRPK2 ) with a marginally significant colocalization signal ( r = 0.69, p < 1 × 10 −6 ), and specifically highlights the potentially causal role of MAPT ( r = 0.76, p < 1 × 10 −6 ), NKX2-2 ( r = 0.71, p -value = 2.26 −02 ) and PTPRE ( r = 0.97, p -value = 2.63 −04 ) when restricting the analysis to brain tissue.

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Results For each gene with a significant association between GWAS and eQTL’s p -value ( r > 0.7, p -value < 0.05), we further addressed colocalization in an additional set of GWAS studies for SZP, ADHD and MD because of previously reported highly significant genetic correlation [ 7 , 22 ], so that we get more clues on the possible mechanisms underlying the colocalization signals.

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