An international team of scientists has identified a mutation on human chromosome 16 that dramatically raises risk for schizophrenia.
The mutation in question is what scientists call a copy number variant (CNV). CNVs are areas of the genome where the number of copies of genes differs between individuals. The CNV is located in a region referred to by scientists as 16p11.2.
By studying the genomes of 4,551 patients and 6,391 healthy individuals, the team, led by geneticist Jonathan Sebat, Ph.D., of Cold Spring Harbor Laboratory (CSHL), has shown that having one extra copy of this region is linked to schizophrenia.
The mutation identified in this study is a potent risk factor.
"In the general population this duplication is quite rare, occurring in roughly one in 5,000 persons but for people that carry the extra copy, the risk of developing schizophrenia is increased by more than eight-fold," says Sebat.
The new discovery is the latest in a series of studies that have pinpointed rare CNVs that confer substantial risk of schizophrenia. Others include deletions on chromosomes 1, 15 and 22.
The study appears online today ahead of print in the journal Nature Genetics.