Nishiguchi N, Matsushita S, Suzuki K, Murayama M, Shirakawa O, Higuchi S
Division of Clinical Research, National Institute on Alcoholism, Kurihama National Hospital, Yokosuka, Kanagawa, Japan.
Biol Psychiatry. 2001 Jul 15;50(2):123-8. doi: 10.1016/s0006-3223(00)01107-0.
Evidence from family and twin studies suggests a genetic contribution to the etiology of eating disorders (EDs). Recently, researchers have reported genetic associations between the MspI polymorphism (-1438A/G) of the promoter region of the 5HT2A receptor gene and EDs; however, reports of evidence against these findings make the association controversial.
The authors examined the prevalence of the -1438A/G polymorphism of the 5HT2A receptor gene among 182 Japanese patients with EDs and 374 normal control subjects. Interactions of the association of this polymorphism with subtypes of anorexia nervosa (AN), bulimia nervosa (BN), and various clinical characteristics were also assessed.
In contrast to previous studies reporting elevated A allele frequencies in patients with AN, the G allele had a significantly higher frequency in patients with BN but not in patients with AN, than in control subjects. Examination of the interactions revealed that the presence of the binge eating and/or purging behavior and comorbid borderline personality disorder (BPD) tended to be associated with increased frequency of the G allele.
Though preliminary, these results can be interpreted as suggesting that the G allele of the 5HT2A receptor gene -1438A/G polymorphism may be associated with pathological features that EDs and BPD have in common, especially disinhibition in eating behavior and personality trait.
家族研究和双生子研究的证据表明，饮食失调（ED）的病因有遗传因素的影响。最近，研究人员报告了5HT2A受体基因启动子区域的MspI多态性（-1438A/G）与饮食失调之间的遗传关联；然而，有证据反对这些研究结果的报告使得这种关联存在争议。
作者检测了182名日本饮食失调患者和374名正常对照者中5HT2A受体基因-1438A/G多态性的发生率。还评估了这种多态性与神经性厌食症（AN）、神经性贪食症（BN）亚型以及各种临床特征之间的关联。
与之前报道AN患者中A等位基因频率升高的研究相反，G等位基因在BN患者中的频率显著高于正常对照者，但在AN患者中并非如此。对相互作用的检测显示，暴饮暴食和/或清除行为以及共病边缘型人格障碍（BPD）的存在往往与G等位基因频率增加有关。
尽管这些结果是初步的，但可以解释为表明5HT2A受体基因-1438A/G多态性的G等位基因可能与饮食失调和BPD共有的病理特征有关，尤其是饮食行为和人格特质方面的抑制解除。
