A genome-wide survey of human short-term memory

作者：Papassotiropoulos A^*; Henke K; Stefanova E; Aerni A; Mueller A; Demougin P; Vogler C; Sigmund J C; Gschwind L; Huynh K D; Coluccia D; Mondadori C R; Haenggi J; Buchmann A; Kostic V; Novakovic I; van den Bussche H; Kaduszkiewicz H; Weyerer S; Bickel H; Riedel Heller S; Pentzek M; Wiese B; Dichgans M; Wagner M; Jessen F; Maier W; de Quervain D J F

来源：Molecular Psychiatry, 2011, 16(2): 184-192.

DOI：10.1038/mp.2009.133

• SCN1A
• sodium channel
• memory
• functional brain imaging
• fMRI
• GWAS

Recent advances in the development of high-throughput genotyping platforms allow for the unbiased identification of genes and genomic sequences related to heritable traits. In this study, we analyzed human short-term memory, which refers to the ability to remember information over a brief period of time and which has been found disturbed in many neuropsychiatric conditions, including schizophrenia and depression. We performed a genome-wide survey at 909 622 polymorphic loci and report six genetic variations significantly associated with human short-term memory performance after genome-wide correction for multiple comparisons. A polymorphism within SCN1A (encoding the alpha subunit of the type I voltage-gated sodium channel) was replicated in three independent populations of 1699 individuals. Functional magnetic resonance imaging during an n-back working memory task detected SCN1A allele-dependent activation differences in brain regions typically involved in working memory processes. These results suggest an important role for SCN1A in human short-term memory. Molecular Psychiatry (2011) 16, 184-192; doi:10.1038/mp.2009.133; published online 29 December 2009

• 出版日期2011-2
• 单位上海市精神卫生中心