Evidence for an association with the serotonin transporter promoter region polymorphism and autism
Evidence for an association with the serotonin transporter promoter region polymorphism and autism
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DOI：
10.1002/ajmg.1365
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发表时间：
2001-05-08
期刊：
影响因子：
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通讯作者：
Ebstein, RP
中科院分区：
文献类型：
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作者：
Yirmiya, N;Pilowsky, T;Ebstein, RP
我们对5-羟色胺转运体启动子区域多态性(5-HTTLPR)、多巴胺D4外显子III重复区域(DRD4)和SURD儿茶酚-O-甲基转移酶(COMT)三种功能基因进行了检测，旨在确定与自闭症相关的候选基因。Long/Long 5-HTTLPR基因频率显著偏高(似然比=7.18；P=0.027；2 df；n=33个家系)以及5-HTTLPR的长等位基因优先传递(TdT卡方=5.44；P<；0.025；1 df)。在这个样本中，没有观察到COMT和DRD4基因多态与自闭症之间的关联。以前的一些研究已经观察到自闭症与5-HTTLPR多态之间的联系，目前的结果与Klauck等人首次报道的结果相似，[1997：hum Genet 100：224-229；1997：hum Mol Genet 6：2233-2238]。此外，在30%-50%的自闭症患者中一直发现5-羟色胺水平升高，这可能是家族性自闭症的一个标志，自闭症患者的高5-羟色胺血症似乎是由于5-羟色胺摄取增强所致，因为游离5-羟色胺水平是正常的，目前关于自闭症患者中Long/Long 5-HTTLPR基因过量的报道可能为自闭症患者中高水平的血小板5-羟色胺含量提供部分分子解释。(C)2001年Wiley-Liss，Inc.
We have examined three functional polymorphisms, serotonin transporter promoter region polymorphism (5-HTTLPR), dopamine D4 exon III repeat region (DRD4), surd catechol-O-methyltransferase (COMT), in a small family-based design toward identifying candidate genes that confer risk for autism. A significant excess of the long/long 5-HTTLPR genotype was observed (likelihood ratio = 7.18; P = 0.027; 2 df; n = 33 families) as well as preferential transmission of the long allele of the 5-HTTLPR (TDT chi-square = 5.44; P < 0.025; 1 df). No association was observed between the COMT and DRD4 polymorphisms and autism in this sample. Some previous studies have observed linkage between autism and the 5-HTTLPR polymorphism and the current results are similar to those first reported by Klauck et al, [1997: Hum Genet 100:224-229; 1997: Hum Mol Genet 6:2233-2238]. Additionally, elevated serotonin levels have been consistently found in 30%-50% of autistic patients and may represent a marker for familial autism, Hyperserotonemia in autism appears to be due to enhanced 5-HT uptake, as free 5-HT levels are normal and the current report of an excess of the long/long 5-HTTLPR genotype in autism could provide a partial molecular explanation for high platelet serotonin content in autism. (C) 2001Wiley-Liss,Inc.