Transmission disequilibrium studies of the serotonin 5-HT2A receptor gene (HTR2A) in autism.
Transmission disequilibrium studies of the serotonin 5-HT2A receptor gene (HTR2A) in autism.
复制标题
自闭症血清素 5-HT2A 受体基因 (HTR2A) 的传递不平衡研究。
DOI：
10.1002/ajmg.10192
复制
发表时间：
2002
期刊：
影响因子：
--
通讯作者：
CookJr,EdwinH
中科院分区：
文献类型：
--
作者：
Veenstra-VanderWeele,Jeremy;Kim,Soo-Jeong;Lord,Catherine;Courchesne,Rachel;Akshoomoff,Natasha;Leventhal,BennettL;Courchesne,Eric;CookJr,EdwinH
自闭症患者的高胆固醇血症是精神疾病中存在时间最长的生化发现之一。这一重复性很好的发现和随后对自闭症患者血小板5-羟色胺受体的研究表明，染色体13 q上的5-羟色胺2A受体基因（HTR 2A）是自闭症的主要候选基因。从最近的基因组筛选中得到的数据也暗示了含有HTR 2A的基因组区域。基于这些证据，我们使用传递/不平衡检验（transmission/disequilibrium test，TDT）来评估孤独症与三种单倍型的传递不平衡，包括启动子-1438 G/A单核苷酸多态性（single nucleotide polymorphism，SNP），与先前研究中的102 T/C SNP完全连锁不平衡，一种新发现的位于内含子1靠近外显子2的SNP，以及负责外显子3中His 452 Tyr氨基酸改变的SNP。因为表达研究表明HTR 2A在大脑中是多态性印记，所以二次分析分为母亲和父亲的传播。没有证据表明单倍型的不平等传播;然而，功效分析显示在该样本量中检测父源效应的功效较低。© 2002 Wiley利斯公司
Hyperserotonemia in autism is one of the longest‐standing biochemical findings in a psychiatric disorder. This well‐replicated finding and subsequent studies of platelet serotonin receptors in autism indicate that the serotonin 2A receptor gene (HTR2A) on chromosome 13q is a primary candidate gene in autism. Converging data from recent genome screens also implicates the genomic region containingHTR2A. Based on these lines of evidence, the transmission/disequilibrium test (TDT) was used to assess transmission disequilibrium between autism and haplotypes of three polymorphisms, including the promoter ‐1438 G/A single nucleotide polymorphism (SNP) in perfect linkage disequilibrium with the 102 T/C SNP in previous studies, a newly identified SNP in intron 1 near exon 2, and the SNP responsible for the His452Tyr amino acid change in exon 3. Because expression studies have shownHTR2Ato be polymorphically imprinted in the brain, secondary analyses were split into maternal and paternal transmissions. No evidence was found for unequal transmission of haplotypes; however, power analysis reveals low power to detect a parent‐of‐origin effect in this sample size. © 2002 Wiley‐Liss, Inc.