Sanger sequencing of 313 ASD cases and 350 controls (both of Han Chinese descent) identified five common variants, including one common variant (c.1567A>G; p.T523A) associated with autism, and seven rare variants, two of which (c.2429G>A; p.R810Q, c.3496G>C; p.E1166Q) were absent in controls and dbSNP (Lu et al., 2014). Combined association analysis of THBS1 rare variants (MAF<0.01) in patients and Asian samples in the 1000 Genomes project revealed association between these rare variants and autism (P=0.039).
Adhesive glycoprotein that mediates cell-to-cell and cell-to-matrix interactions.
Type of Disorder
Common and rare variants of the THBS1 gene associated with the risk for autism.