Bruce Kenneth R, Steiger Howard, Joober Ridha, Ng Ying Kin N M K, Israel Mimi, Young Simon N
Eating Disorders Program, Research Centre, Douglas Hospital, Department of Psychiatry, McGill University, 6875 LaSalle Boulevard, Montreal, Quebec H4H 1R3, Canada.
Am J Med Genet B Neuropsychiatr Genet. 2005 Aug 5;137B(1):40-4. doi: 10.1002/ajmg.b.30205.
Separate lines of research suggest that the functional alterations in the serotonin (5-HT) 2A receptor are associated with 5-HT tone, behavioral impulsiveness, and bulimia nervosa (BN). We explored the effect of allelic variations within the 5-HT2A receptor gene promoter polymorphism -1438G/A on trait impulsiveness and serotonin function in women with BN. Participants included women with BN having the A allele (i.e., AA homozygotes and AG heterozygotes, BNA+, N = 21); women with BN but without the A allele (i.e., GG homozygotes, BNGG, N = 12), and normal eater control women having the A allele (NEA+, N = 19) or without the A allele (NEGG; N = 9). The women were assessed for psychopathological tendencies and eating disorder symptoms, and provided blood samples for measurement of serial prolactin responses following oral administration of the post-synaptic partial 5-HT agonist meta-chlorophenylpiperazine (m-CPP). The BNGG group had higher scores than the other groups on self-report measures of non-planning and overall impulsiveness and had blunted prolactin response following m-CPP. The bulimic groups did not differ from each other on current eating symptoms or on frequencies of other Axis I mental disorders. Findings indicate that women with BN who are GG homozygotes on the -1438G/A promoter polymorphism are characterized by increased impulsiveness and lower sensitivity to post-synaptic serotonin activation. These findings implicate the GG genotype in the co-aggregation of impulsive behaviors and alterations of post-synaptic 5-HT functioning in women with BN.
不同的研究方向表明,血清素(5-羟色胺,5-HT)2A受体的功能改变与5-羟色胺水平、行为冲动性及神经性贪食症(BN)相关。我们探讨了5-HT2A受体基因启动子多态性-1438G/A中的等位基因变异对神经性贪食症女性的特质冲动性和血清素功能的影响。研究对象包括携带A等位基因的神经性贪食症女性(即AA纯合子和AG杂合子,BNA+,N = 21);携带神经性贪食症但不携带A等位基因的女性(即GG纯合子,BNGG,N = 12),以及携带A等位基因的正常饮食对照女性(NEA+,N = 19)或不携带A等位基因的正常饮食对照女性(NEGG;N = 9)。对这些女性进行了心理病理学倾向和饮食失调症状评估,并采集血样以测量口服突触后5-羟色胺部分激动剂间氯苯哌嗪(m-CPP)后的血清催乳素系列反应。BNGG组在非计划性和总体冲动性的自我报告测量中得分高于其他组,且m-CPP给药后催乳素反应减弱。贪食症组在当前饮食症状或其他轴I精神障碍的频率上彼此无差异。研究结果表明,在-1438G/A启动子多态性上为GG纯合子的神经性贪食症女性的特征是冲动性增加,对突触后血清素激活的敏感性降低。这些发现表明GG基因型与神经性贪食症女性的冲动行为共聚集及突触后5-羟色胺功能改变有关。