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Human adenosine A2a receptor (A2aAR) gene: systematic mutation screening in patients with schizophrenia


Several lines of evidence suggest an involvement of adenosine A2a receptor (A2aAR) mediated adenosinergic neuromodulation in the etiopathogenesis of schizophrenia. We therefore performed a systematic mutation scan of the complete coding region of the human A2aAR gene in a sample of 42 schizophrenic patients. We detected one rare naturally occurring receptor variant (Gly-340-Ser) and two silent mutations (405C/T and 1083C/T). To our knowledge the Gly-340-Ser substitution is the first naturally occurring molecular variant of the A2aAR identified. Determining the frequency of the three variants in 42 unrelated healthy controls, we observed a significant trend towards an overrepresentation of the 1083T variant in patients when compared to controls (p = 0.041). This trend was followed up in a large independent replication sample. However, we were not able to confirm the original trend in the second sample (p = 0.367). The Ser-340 variant was found in a single schizophrenic individual. Investigation of the patient's family revealed independent segregation between the Ser-340 variant and psychiatric illness. Our data suggest that genetically determined structural variation of the A2aAR does not play a major role in the development of schizophrenia.

Type Journal
ISBN 0300-9564 (Print)
Authors Deckert, J.;Nothen, M. M.;Rietschel, M.;Wildenauer, D.;Bondy, B.;Ertl, M. A.;Knapp, M.;Schofield, P. R.;Albus, M.;Maier, W.;Propping, P. :
Published Date 1996-01-01 00:00:00
Published Volume 103
Published Issue 12
Published Pages 1447-55
Status Published in-print
URL link to publisher's version
OpenAccess link to author's accepted manuscript version