Marvi Moreno, Mahtab Hamid, Francisco Servin, Bita Bashy, Travis Mize
Center for Academic Enrichment and Outreach
University of Nevada, Las Vegas; Center for Academic Enrichment and Outreach
Las Vegas, NV
Recent results imply that rare variants contribute to the risk of schizophrenia. We conducted whole genome sequencing for 99 subjects from 20 Chinese families (parents and at least two siblings with a schizophrenia diagnosis and one unaffected sibling). Of the 9 frameshift mutations identified in more than 2 families, one was at chromosome 10:125780762 on the Carbohydrate Sulfotransferase 15 (CHST15) gene and another at chromosome 18:24722723 on the Carbohydrate Sulfotransferase 9 (CHST9) gene. We observed these deletions in 4 affected persons of two families from whole. At least two types of mutations (one or three bases insertion) have been identified in 6 families. Given the frequencies of these mutations observed in the general population (data from ExAC database:http://exac.broadinstitute.org/) are between 0.002 to 0.00001, the largest p-value that CHST15 is associated with schizophrenia is less than 0.002^6, or 6.4E-17. This finding was replicated in an independent Chinese sample of 85 subjects from 17 families, where 7 families were found with similar mutations at the same location. We are in the process to validate these mutations by PCR- and cloning-based Sanger Sequencing. CHST15 and CHST9 has been reported to be associated with cancers but never with schizophrenia. Further study of the biological functions of CHST15 and CHST9 genes are warranted to understand their contribution to schizophrenia.
CHST9; Schizophrenia; Whole genome sequencing; Chromosome 10
Genetics | Medical Biotechnology | Medical Genetics
Identification of CHST9 as A Candidate Gene for Schizophrenia from Whole Genome Sequencing.
Available at: https://digitalscholarship.unlv.edu/lsamp_posters/6
Available for download on Thursday, October 01, 2020