In this study, we performed a case-control analysis focusing on seven tag single nucleotide polymorphisms located in SATB2 gene among 985 patients with schizophrenia and 1218 healthy controls recruited from the Xinjiang Province of China.
Common variation in SATB2 locus confers risk of schizophrenia, whereas rare, de novo structural and single nucleotide variants cause severe intellectual disability and absent or limited speech.
These SATB2 gene-sets were enriched for genes containing common variants associated with schizophrenia and EA, and were enriched for genes containing rare variants reported in studies of schizophrenia, autism and intellectual disability.