The strongest independent locus, rs57709857-A (OR 0.93, 95% CI 0.91–0.95; P = 4.15 × 10−9) identifies a region previously branded as a neurodevelopmental hub on chromosome 8p (8p11.23). Other GWS associations include the marker rs9879311-T, indexing an association signal within the ATP2B2 gene located at 3p25.3 (OR 1.06, 95% CI 1.04–1.08; P = 6.04 × 10−9) and rs6803008-T, indexing the FOXP1 locus at 3p13 (OR 0.94, 95% CI 0.93–0.96; P = 1.34 × 10−8) (see Additional file 1: Figure S16 for corresponding locus plots). ATP2B2 (ATPase, Ca(2+)-transporting, plasma membrane, 2) plays an important role in intracellular calcium homeostasis and has previously been implicated in ASD through reported genetic associations in North American, Italian, and Chinese samples [61–63], as well as through differential expression in ASD brain tissue [64]. FOXP1, a member of the Forkhead Box P family of transcription factors has been implicated in ASD aetiology based on observations of multiple de novo SNVs [65–67]. FOXP1 has also been implicated in several related cognitive phenotypes including language impairment and intellectual disability [68–70]. Moreover, in a murine Foxp1 KO mouse model,
