Abou Jamra Rami, Schumacher Johannes, Golla Astrid, Richter Carola, Otte Andreas C J, Schulze Thomas G, Ohlraun Stephanie, Maier Wolfgang, Rietschel Marcella, Cichon Sven, Propping Peter, Nöthen Markus M
Institute of Human Genetics, University of Bonn, Wilhelmstrasse 31, 53111 Bonn, Germany.
Am J Med Genet B Neuropsychiatr Genet. 2004 Apr 1;126B(1):79-81. doi: 10.1002/ajmg.b.20145.
Several lines of evidence suggest an involvement of the noradrenergic neurotransmitter system in the pathogenesis of bipolar affective disorder (BPAD). Three genes for alpha-adrenergic receptors (ADRA) are located in chromosomal regions that showed evidence for linkage: The alpha(1c)-adrenergic (ADRA-1C) receptor gene on 8p21, the alpha(2a)-adrenergic (ADRA-2A) receptor gene on 10q25, and the alpha(2c)-adrenergic (ADRA-2C) receptor on 4p16. In a BPAD sample of 120 parent-offspring triads, we genotyped a 492 Cys/Arg variant in exon 2 of the ADRA-1C gene, a -1291 G/C variant in the 5'UTR of the ADRA-2A gene, and a STR marker (adra2c1) in the 5'UTR of the ADRA-2C gene. Using the Transmission Disequilibrium Test (TDT), no significant differences in transmissions were observed for any of the three ADRA genes.
多条证据表明去甲肾上腺素能神经递质系统参与双相情感障碍（BPAD）的发病机制。α-肾上腺素能受体（ADRA）的三个基因位于显示有连锁证据的染色体区域：位于8p21的α（1c）-肾上腺素能（ADRA-1C）受体基因、位于10q25的α（2a）-肾上腺素能（ADRA-2A）受体基因以及位于4p16的α（2c）-肾上腺素能（ADRA-2C）受体。在一个由120个亲子三联体组成的BPAD样本中，我们对ADRA-1C基因外显子2中的一个492 Cys/Arg变体、ADRA-2A基因5'UTR中的一个-1291 G/C变体以及ADRA-2C基因5'UTR中的一个STR标记（adra2c1）进行了基因分型。使用传递不平衡检验（TDT），未观察到三个ADRA基因中的任何一个在传递上有显著差异。
