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New Genetic Variants Linked to Schizophrenia

Findings include new variations appearing in offspring

FRIDAY, Aug. 1 (HealthDay News) -- A number of genetic abnormalities associated with schizophrenia and related disorders have been identified, including de novo variations appearing in offspring, according to two studies published online July 30 in Nature and a third study published the same day in Nature Genetics.

In the first study in Nature, Hreinn Stefansson, Ph.D., from deCODE Genetics in Reykjavik, Iceland, and colleagues performed a genome-wide search for de novo copy number variations associated with schizophrenia in 9,878 transmissions from parents to offspring. They found 66 new copy number variations, which were associated with three deletions at chromosomes 1q21.1, 15q11.2 and 15q13.3 in independent populations of patients with schizophrenia and related psychoses.

In the second study in Nature, Pamela Sklar, M.D., Ph.D., from Massachusetts General Hospital in Boston, and colleagues performed a genome-wide search for rare copy number variants in 3,391 schizophrenia patients and 3,181 matched controls. They found that, in general, schizophrenia patients had a 1.15-fold higher burden of copy number variants than controls among rare and large (100 kb) deletions, with deletions within the region critical for velo-cardio-facial syndrome (chromosome 22q11.2) and on chromosomes 15q13.3 and 1q21.1.

In the study in Nature Genetics, Michael C. O'Donovan, M.D., Ph.D., from Cardiff University in the United Kingdom, and colleagues performed a genome-wide association study for loci associated with schizophrenia in 479 schizophrenia patients and 2,937 controls. They found that three loci on chromosomes 2q32.1, 11p14.1 and 16p13.12 had strong independent associations with schizophrenia in up to 16,726 additional subjects. The authors conclude, "our findings strongly suggest that further genome-wide association analyses of larger samples will identify many additional specific genetic risk factors with the potential to shed light into the pathophysiology of one of the most enigmatic major causes of human morbidity."

All three studies received funding from GlaxoSmithKline.

Abstract - Stefansson
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Abstract - Sklar
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Abstract - O'Donovan
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