ISSN:
1435-1463
Keywords:
Adenosine A2a receptor
;
candidate gene
;
schizophrenia
;
single-strand conformational analysis
;
genetic variation
;
association study
Source:
Springer Online Journal Archives 1860-2000
Topics:
Medicine
Notes:
Summary Several lines of evidence suggest an involvement of adenosine A2a receptor (A2aAR) mediated adenosinergic neuromodulation in the etiopathogenesis of schizophrenia. We therefore perfomed 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 of Medium:
Electronic Resource
URL:
http://dx.doi.org/10.1007/BF01271259
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