Center for Eating Disorders Ursula, Leidschendam, The Netherlands; Leiden University Medical Centre, Molecular Epidemiology Section (Department of Medical Statistics), Leiden, The Netherlands; Department of Biological Psychology, VU University, Amsterdam, The Netherlands.
Int J Eat Disord. 2014 Mar;47(2):211-4. doi: 10.1002/eat.22228. Epub 2013 Nov 26.
The female preponderance and onset around puberty in the majority of eating disorders (EDs) suggest that sex hormones, like estrogens, may be involved in the onset of these disorders. An eight-SNP haplotype at the estrogen receptor I (ESR1) gene was found to be associated with anorexia nervosa (AN) (Versini et al., Neuropsychopharmacology, 35, 1818-1825, 2010) and three SNPs from this haplotype (rs726281, rs2295193, and rs3798577) were associated with AN and/or EDs. Our objective was to replicate these findings in an independent cohort of 520 patients with an eating disorder, of whom 244 had AN (142 restricting type) from the GenED study and 2,810 random women from the Netherlands Twin Registry.
The frequencies of the eight-SNP haplotype and three ESR1 SNPs were compared between patients with an eating disorder, with AN (restricting type), with bulimia nervosa (BN), and the control women.
Neither the haplotype nor the three ESR1 SNPs were associated with EDs, BN, AN, or restricting type AN.
Despite sufficient statistical power, the associations reported by Versini et al. (Neuropsychopharmacology, 35, 1818-1825, 2010) were not replicated.
大多数进食障碍（ED）中女性发病率较高且发病年龄接近青春期，这表明性激素，如雌激素，可能与这些疾病的发病有关。雌激素受体 I（ESR1）基因的一个包含 8 个单核苷酸多态性（SNP）的单倍型与神经性厌食症（AN）有关（Versini 等人，《神经精神药理学》，35，1818-1825，2010），该单倍型中的 3 个 SNP（rs726281、rs2295193 和 rs3798577）与 AN 和/或 ED 有关。我们的目的是在一个独立的 520 名进食障碍患者队列中复制这些发现，其中 244 名患者来自 GenED 研究的 AN（142 名限制型），2810 名女性来自荷兰双胞胎登记处。
在进食障碍患者、AN（限制型）、神经性贪食症（BN）患者和对照组女性中，比较包含 8 个 SNP 的单倍型和 ESR1 三个 SNP 的频率。
单倍型和三个 ESR1 SNP 均与 ED、BN、AN 或限制型 AN 无关。
尽管具有足够的统计效力，但 Versini 等人报道的关联（《神经精神药理学》，35，1818-1825，2010）并未得到复制。
