ABCA7 showed the strongest evidence of being associated with autism (OR=8.5 0.75) with all rare variant transmission disequilibrium test (RV-TDT) methods (range of p-values, 1.4E-04 to 2.9E-04) that were used to analyze exome data from 199 autism trios from the Simons Simplex Collection (He et al., 2014).
The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. It plays a role in phagocytosis by macrophages of apoptotic cells and may function in apolipoprotein-mediated phospholipid efflux from cells, mediate cholesterol efflux, and regulate cellular ceramide homeostasis during keratinocytes differentiation.
Type of Disorder
Rare-variant extensions of the transmission disequilibrium test: application to autism exome sequence data.