Abstract:

Recent genetic association studies have identified the A-allele of rs1006737 within CACNA1C as a risk factor for schizophrenia as well as mood disorders. Some evidence suggests that this polymorphism plays a role in cognitive function both in schizophrenia patients and healthy individuals; however, the precise nature of this association remains unclear. Here we investigated the possible association of this polymorphism with a wide range of neurocognitive functions in schizophrenia patients and in healthy subjects. Schizophrenia patients exhibited significantly poorer performance on all the cognitive domains as compared to healthy controls. In patients, A-allele carriers demonstrated significantly worse logical memory performance than the G-allele homozygotes. In controls, no significant association was observed between the genotype and any of the cognitive domains examined. These results add to the literature suggesting that rs1006737 may be associated with schizophrenia through its detrimental effect on endophenotypic traits.

日本語要旨:

2008年に発表された大規模なゲノムワイド関連解析においてCACNA1Cの一塩基多型rs1006737は双極性障害と関連することが示され、その後の複数の検討によりこの多型は統合失調症とも関連することが示されてきている。そこで本研究では、この多型が統合失調症の中間表現型である認知機能にどのような影響を与えているのかを調べた。リスクアレルを保有している統合失調症患者では、保有していない患者に比べ、言語性記憶の成績が有意に低いという結果が得られ、この多型は認知機能に影響を与えることで統合失調症と関連するという可能性が示唆された。