精神分裂症相关基因DISC1与双相性精神障碍相关

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Schizophrenia-Linked Gene Tied to Bipolar Disorder

By David Douglas

NEW YORK (Reuters Health) Jan 22 - There is further evidence that a gene linked with schizophrenia - the disrupted-in-schizophrenia 1 (DISC1) gene -- is also associated with bipolar disorder, researchers report in the January issue of the Archives of General Psychiatry.

\"DISC1 is a very interesting candidate gene for major mental illness,\" senior investigator Dr. Pamela Sklar, of Massachusetts General Hospital, Boston, told Reuters Health. \"revious genetic studies have not yet found which part of the gene sequence causes disease.\"

Dr. Sklar and colleagues conducted a large-scale family-based association study of bipolar disorder. As part of the process, the team genotyped 1261 autosomal single-nucleotide polymorphisms in 829 individuals from 225 families.

A main aim was to probe the role of genes related to the lithium mechanism of action. However, none of these genes appeared to be associated with bipolar disorder.

There was evidence of association for genes expressing sialyltransferase 4A, tachykinin receptor 1, and gamma-aminobutyric acid-A (GABA-A)-beta-2 receptor subunit.

Of other genes associated with schizophrenia and bipolar disorder in a number of other studies, only DISC1 showed an association.

Dr. Sklar said, \"the current study adds to a growing body of work suggesting that the gene DISC1 is important in major mental illness, including schizophrenia and bipolar disorder.\"

\"Importantly,\" she concluded, \"the study emphasizes the need for far larger samples and more focuses and in-depth genetic study to clarify what is going on.\"

Arch Gen Psychiatry 2008;65:53-61.
作者：大卫-道格拉斯

纽约（路透社 健康）1月22号 研究人员在杂志《普通精神医学纪要》的一月刊中写到，有了更进一步的证据表明精神分裂症相关基因DISC1，同时也与双相性精神障碍相关。
“DISC1是成人精神病中的一个有趣的候补基因，”波斯顿麻萨诸塞州综合医院的资深研究员Pamela Sklar博士告诉我们，“前期的遗传研究并未发现该基因结构的哪个序列导致了疾病的发生。”Sklar博士和其同事策划了一次大规模的以家族为背景的关于双相性精神障碍疾病的研究。作为病变的要素之一，在来自225个家族中的829个个体中，基因1261存在常染色体单核苷酸多态性。其主要目的是查出与锂作用机理相关基因的主要作用。然而，没有一种基因显示与双相性精神障碍相关。有证据显示，这些基因联合作用表达唾液酸转移酶4A，速激肽受体1和伽玛氨酪酸-A (GABA-A)-beta-2受体亚基。在其他研究中的一系列据推测与精神分裂症和双相性精神障碍有联系的基因，只有DISC1显示出其相关性。Sklar博士说；“目前的研究提供了越来越多的证据来表明DISC1在成人精神疾病中扮演重要角色，包括精神分裂症和双相性精神障碍。”“重要的是，”她总结到，“这个研究强调了更大样本和更集中病源的必须性以及更彻底深入的遗传学研究，以便于去澄清个中原委。”

《普通精神医学纪要》2008;65:53-61.