儿童中脑源性神经营养因子（BDNF）、儿茶酚-O-甲基转移酶（COMT）和5-羟色胺转运体基因与《精神疾病诊断与统计手册》第四版（DSM-IV）双相I型障碍的家系关联研究。
Family-based association study of the BDNF, COMT and serotonin transporter genes and DSM-IV bipolar-I disorder in children.
作者信息
Mick Eric, Wozniak Janet, Wilens Timothy E, Biederman Joseph, Faraone Stephen V
机构信息
Department of Psychiatry, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.
出版信息
BMC Psychiatry. 2009 Feb 4;9:2. doi: 10.1186/1471-244X-9-2.
BACKGROUND
Over the past decade pediatric bipolar disorder has gained recognition as a potentially more severe and heritable form of the disorder. In this report we test for association with genes coding brain-derived neurotrophic factor (BDNF), the serotonin transporter (SLC6A4), and catechol-O-methyltransferase (COMT).
METHODS
Bipolar-I affected offspring triads (N = 173) were drawn from 522 individuals with 2 parents in 332 nuclear families recruited for genetic studies of pediatric psychopathology at the Clinical and Research Program in Pediatric Psychopharmacology and Adult ADHD at Massachusetts General Hospital.
RESULTS
We failed to identify an association with the val66 allele in BDNF (OR = 1.23, p = 0.36), the COMT-l allele (OR = 1.27, p = 0.1), or the HTTLPR short allele (OR = 0.87, p = 0.38).
CONCLUSION
Our study suggests that the markers examined thus far in COMT and SLC6A4 are not associated with pediatric bipolar disorder and that if the val66met marker in BDNF is associated with pediatric bipolar disorder the magnitude of the association is much smaller than first reported.
背景
在过去十年中，儿童双相情感障碍已被公认为是该疾病一种可能更严重且具有遗传性的形式。在本报告中，我们检测了与编码脑源性神经营养因子（BDNF）、5-羟色胺转运体（SLC6A4）和儿茶酚-O-甲基转移酶（COMT）的基因之间的关联。
方法
双相I型障碍患儿三联体（N = 173）来自于522名个体，这些个体来自马萨诸塞州总医院儿科精神药理学及成人注意缺陷多动障碍临床与研究项目中为儿科精神病理学基因研究招募的332个核心家庭中的有两位家长的家庭。
结果
我们未能发现BDNF中val66等位基因（比值比=1.23，p = 0.36）、COMT - l等位基因（比值比=1.27，p = 0.1）或5-羟色胺转运体基因启动子区可变数目串联重复序列（HTTLPR）短等位基因（比值比=0.87，p = 0.38）存在关联。
结论
我们的研究表明，目前检测的COMT和SLC6A4中的标记物与儿童双相情感障碍无关，并且如果BDNF中的val66met标记物与儿童双相情感障碍有关联，其关联程度也远小于最初报道的。
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