A research team has found a mutation on human chromosome 16 increases risk for schizophrenia by more than eight-fold for some individuals.
The mutation in question is what scientists call a copy number variant (CNV).
Geneticist Jonathan Sebat, Ph.D., of Cold Spring Harbor Laboratory, identified the mutation.
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, Sebat’s team has shown that having one extra copy of this region is associated with schizophrenia.
The mutation is a potent risk factor.
“In the general population this duplication is quite rare, occurring in roughly one in 5,000 persons”, says Sebat.
“But for people that carry the extra copy, the risk of developing schizophrenia is increased by more than eight-fold”.
This finding 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.
Source: Cold Spring Harbor Laboratory