• 主题
高级搜索  >
历史搜索 清空历史
首页> 外文期刊>Neurochemistry International: The International Journal for the Rapid Publication of Critical Reviews, Preliminary and Original Research Communications in Neurochemistry >Analysis of serotonin receptor 2A gene (HTR2A): association study with autism spectrum disorder in the Indian population and investigation of the gene expression in peripheral blood leukocytes.
【24h】

Analysis of serotonin receptor 2A gene (HTR2A): association study with autism spectrum disorder in the Indian population and investigation of the gene expression in peripheral blood leukocytes.

机译：血清素受体2A基因（HTR2A）分析：与印度人自闭症谱系障碍的关联研究以及外周血白细胞基因表达的调查。

获取原文
获取原文并翻译 | 示例
           
页面导航
  • 摘要
  • 著录项
  • 相似文献
  • 相关主题

摘要

Several studies suggest involvement of serotoninergic system in the pathophysiology of Autism Spectrum Disorder (ASD). The 5-HT receptor binding studies using (3)H-lysergic acid diethylamide ((3)H-LSD) and linkage analysis provided evidences to consider HTR2A as a potential candidate gene for ASD. The three SNPs, -1438A/G (rs6311), 102T/C (rs6313) and 1354C/T (rs6314) of HTR2A have been well studied in the etiology of various neuropsychiatric disorders. But studies on association of this gene with ASD are limited to two reports from American and Korean populations. Additionally there are reports, which demonstrated paternal imprinting of HTR2A with expression from only one allele. So far no reports are available on HTR2A and its association with any neuropsychiatric disorders from Indian population. Therefore, the present study investigates association of the above mentioned three markers of HTR2A with ASD in Indian population using population and family-based approaches. The study also deals with allelic expression pattern of HTR2A in Peripheral Blood Leukocytes (PBLs) to understand the parental imprinting status. The genotyping analyses were carried out for probands, parents and controls. The subsequent association analyses did not show association of these markers with ASD. So, HTR2A is unlikely to be a genetic marker for ASD in Indian population. The expression analyses showed absence of monoallelic expression, suggesting lack of parental imprinting of HTR2A gene. However, we noticed methylation of the CpG sites at -1438A/G and 102T/C loci of HTR2A gene. Further bioinformatics analysis revealed absence of CpG islands in the promoter of the gene supporting biallelic expression pattern of HTR2A in PBLs.
机译：多项研究表明，5-羟色胺能系统参与自闭症谱系障碍（ASD）的病理生理。使用（3）H-麦角酸二乙酰胺（（3）H-LSD）和连锁分析进行的5-HT受体结合研究提供了将HTR2A视为潜在的ASD候选基因的证据。 HTR2A的三个SNP -1438A / G（rs6311），102T / C（rs6313）和1354C / T（rs6314）已在各种神经精神疾病的病因中进行了深入研究。但是有关该基因与ASD关联的研究仅限于美国和韩国人群的两项报道。另外，有报道表明，HTR2A的父系印记仅具有一个等位基因的表达。到目前为止，尚无关于HTR2A及其与印度人群神经精神疾病有关的报道。因此，本研究使用人口和基于家庭的方法调查了上述三种HTR2A标记与印度裔ASD的关联。该研究还涉及外周血白细胞（PBL）中HTR2A的等位基因表达模式，以了解父母的印记状态。对先证者，父母和对照进行基因分型分析。随后的关联分析未显示这些标记与ASD的关联。因此，HTR2A不太可能成为印度人群ASD的遗传标记。表达分析表明不存在单等位基因表达，表明HTR2A基因没有亲本印记。但是，我们注意到HTR2A基因的-1438A / G和102T / C位点的CpG位点甲基化。进一步的生物信息学分析表明，在支持PBLs中HTR2A双等位基因表达模式的基因启动子中没有CpG岛。

著录项

相似文献

  • 外文文献
  • 中文文献
  • 专利
获取原文

客服邮箱：kefu@zhangqiaokeyan.com

京公网安备：11010802029741号 ICP备案号：京ICP备15016152号-6 六维联合信息科技 (北京) 有限公司©版权所有

  • 客服微信

  • 服务号