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). Characterization of thrombospondin 1 knockout mice in Leana-Sandoval et al., 2025 found that these mice displayed decreased perineuronal net density and strengthened synaptic transmission in hippocampal field CA2, severely disrupted social interactions, and emotional alterations.
Molecular Function
Adhesive glycoprotein that mediates cell-to-cell and cell-to-matrix interactions.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Common and rare variants of the THBS1 gene associated with the risk for autism.
