单核苷酸多态性
多巴胺受体D2
生物
多巴胺
内科学
内分泌学
放射性配体
纹状体
基因型
颞叶皮质
等位基因
遗传学
体内
基因
神经科学
医学
作者
M. Hirvonen,Ville Lumme,Jussi Hirvonen,Ullamari Pesonen,Kjell Någren,Tero Vahlberg,Harry Scheinin,Jarmo Hietala
标识
DOI:10.1016/j.pnpbp.2009.02.021
摘要
The C957T (rs6277) single nucleotide polymorphism (SNP) of the human dopamine D2 receptor (DRD2) gene (DRD2) affects DRD2 mRNA stability and has been shown to predict striatal DRD2 availability (B(max)/K(D)) in vivo in man. Specifically, the C/C genotype is associated with low striatal DRD2 availability (C/CC/T>T/T). Also the TaqIA A1 allele carriers (p=0.101) tended to have higher extrastriatal DRD2 BP(ND) compared to non-carriers whereas the -141C Ins/Del genotype did not influence extrastriatal DRD2 BP(ND). Our findings indicate that the DRD2 SNPs regulate DRD2 availability in the human cortex and in the thalamus in vivo. However, the regulation pattern is different from that observed previously for striatal DRD2 availability in vivo, which may reflect distinct functional roles of dopamine and DRD2 in the cortex versus the striatum. The results provide useful information for the interpretation of genetic studies exploring the role of the DRD2 in normal physiology as well as in psychiatric and neurological diseases.
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