Mikołajczyk Elzbieta, Smiarowska Małgorzata, Grzywacz Anna, Samochowiec Jerzy
Department of Psychiatry, Pomeranian Medical University, Szczecin, Poland.
Neuropsychobiology. 2006;54(1):82-6. doi: 10.1159/000096043. Epub 2006 Oct 5.
The aim of this study was to evaluate functional catechol-O-methyltransferase (COMT) genetic variation as a risk factor for eating disorders (ED).
Eighty women receiving treatment for serious ED (52 for anorexia nervosa, 28 for bulimia nervosa) and 116 age-matched females in the control group underwent COMT genotyping for polymorphism in exon 4 (codon 158). Both the low-activity allele and the high-activity allele (H) were determined.
The H/H genotype was twice as frequent in the ED group as in the control group (52.5% in the ED group and 25% in controls, chi(2) = 15.5, d.f. = 2, p < 0.001, odds ratio = 3.343). The H/H genotype was found in 57.7% of anorexia nervosa patients (chi(2) = 16.860, p < 0.001, Hardy-Weinberg equilibrium = 0.003, odds ratio = 4.202). The H allele (val) was discovered in 66.9% of ED patients in comparison to 47.8% of patients from the control group (chi(2) = 13.89, p < 0.001, odds ratio = 6.088). In the anorexia group, H allele frequency was enhanced even higher (70.2 vs. 47.8%, chi(2) = 14.48, p < 0.001, odds ratio = 8.175). The genotype associations in the subgroup of bulimia patients were not significant, but a trend for a higher frequency of the H allele was found (p = 0.084, odds ratio = 5.309).
These findings seem to suggest that a turnover of catecholamines, connected with polymorphism determining high activity of COMT enzyme, is connected with the risk of ED occurrence, particularly anorexia nervosa. The risk is significantly higher for women with an allele of higher activity.
本研究旨在评估功能性儿茶酚-O-甲基转移酶(COMT)基因变异作为饮食失调(ED)的风险因素。
80名接受严重饮食失调治疗的女性(52名神经性厌食症患者,28名神经性贪食症患者)和116名年龄匹配的对照组女性接受了COMT基因分型,检测外显子4(密码子158)的多态性。确定了低活性等位基因和高活性等位基因(H)。
饮食失调组中H/H基因型的频率是对照组的两倍(饮食失调组为52.5%,对照组为25%,卡方值=15.5,自由度=2,p<0.001,优势比=3.343)。在57.7%的神经性厌食症患者中发现了H/H基因型(卡方值=16.860,p<0.001,哈迪-温伯格平衡=0.003,优势比=4.202)。与47.8%的对照组患者相比,66.9%的饮食失调患者中发现了H等位基因(缬氨酸)(卡方值=13.89,p<0.001,优势比=6.088)。在厌食症组中,H等位基因频率甚至更高(70.2%对47.8%,卡方值=14.48,p<0.001,优势比=8.175)。贪食症患者亚组中的基因型关联不显著,但发现H等位基因频率有升高趋势(p=0.084,优势比=5.309)。
这些发现似乎表明,儿茶酚胺的代谢转换与决定COMT酶高活性的多态性有关,与饮食失调尤其是神经性厌食症的发生风险有关。具有高活性等位基因的女性风险显著更高。