儿茶酚-O-甲基转移酶（COMT）和多巴胺-β-羟化酶（DBH）cDNA表达水平的连锁研究。

Linkage studies of catechol-O-methyltransferase (COMT) and dopamine-beta-hydroxylase (DBH) cDNA expression levels.

作者信息

Xing Chao, Torres-Caban Monica, Wang Tao, Lu Qing, Xing Guan, Elston Robert C

机构信息

Department of Epidemiology and Biostatistics, Case Western Reserve University, Wolstein Research Building 2103, Cornell Drive, Cleveland, Ohio 44106, USA.

出版信息

BMC Proc. 2007;1 Suppl 1(Suppl 1):S95. doi: 10.1186/1753-6561-1-s1-s95. Epub 2007 Dec 18.

DOI:10.1186/1753-6561-1-s1-s95

PMID:18466599

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC2367604/

Abstract

The COMT and DBH genes are physically located at chromosomes 22q11 and 9q34, respectively, and both COMT and DBH are involved in catecholamine metabolism and are strong candidates for certain psychiatric and neurological disorders. Although the genetic determinants for both enzymes' activities have been widely studied, their genetic involvement on gene mRNA expression levels remains unclear. In this study we performed quantitative linkage analysis of COMT and DBH cDNA expression levels, identifying transcriptional regulatory regions for both genes. Multiple Haseman-Elston regression was used to detect both additive and interactive effects between two loci. We found that the master transcriptional regulatory region 20q13 had an additive effect on the COMT expression level. We also found that chromosome 19p13 showed both additive and interactive effects with 9q34 on DBH expression level. Furthermore, a potential interaction between COMT and DBH was indicated.

摘要

儿茶酚-O-甲基转移酶（COMT）基因和多巴胺β-羟化酶（DBH）基因分别位于22号染色体长臂1区1带（22q11）和9号染色体长臂3区4带（9q34），COMT和DBH均参与儿茶酚胺代谢，是某些精神疾病和神经疾病的重要候选基因。尽管对这两种酶活性的遗传决定因素已进行了广泛研究，但其基因对基因mRNA表达水平的影响仍不清楚。在本研究中，我们对COMT和DBH cDNA表达水平进行了定量连锁分析，确定了这两个基因的转录调控区域。采用多重哈斯曼-埃尔斯顿回归法检测两个位点之间的加性效应和交互效应。我们发现，主转录调控区域20q13对COMT表达水平有累加效应。我们还发现，19号染色体短臂1区3带（19p13）与9q34对DBH表达水平均有累加效应和交互效应。此外，还表明COMT和DBH之间存在潜在的相互作用。