The paper titled “Whole-exome sequencing analysis identifies risk genes for schizophrenia” is published in Nature Communications.

The international study analyzed genetic data from 28,898 individuals with schizophrenia, 103,041 without the condition, and 3,444 families affected by the disorder. Researchers focused on detecting rare, high-impact mutations in protein-coding genes that are significantly more common in people with schizophrenia.

The study identified two genes—STAG1 and ZNF136—that were linked to schizophrenia with strong genetic evidence. An additional six genes—SLC6A1, KLC1, PCLO, ZMYND11, BSCL2, and CGREF—were also associated with more moderate evidence.

The research found that SLC6A1 and KLC1 are the first schizophrenia risk genes to be linked solely through missense variants, a specific type of mutation that alters the amino-acid sequence of proteins.