Campbell D A, Sundaramurthy D, Gordon D, Markham A F, Pieri L F
Molecular Medicine Unit, University of Leeds, St James's University Hospital, UK.
Mol Psychiatry. 1999 Jan;4(1):68-70. doi: 10.1038/sj.mp.4000477.
Anorexia nervosa (AN) is an enigmatic syndrome affecting approximately 0.1% of the at risk population in the UK which equates to approximately 70000 sufferers. Data from a number of studies have demonstrated the heritability of this disorder, however it is only in the last few years that studies have begun to determine the involvement of particular candidate genes in this genetic predisposition. In the current study we have used classical case-control association analysis to determine whether two highly polymorphic microsatellite markers, located within a 3-cM region of the UCP-2/UCP-3 locus, show involvement of this region of the human genome in the predisposition to AN. Analysis of a cohort of 170 female Caucasian anorexia nervosa sufferers and 150 normal female controls shows evidence of association with the marker D11S911 but not D11S916. Allele 13 of the marker D11S911 is significantly over represented in the anorexia nervosa population suggesting that a mutation in linkage disequilibrium with this locus may form part of the genetic component of AN. Further work is now required to try to reproduce these data in a second independent cohort and to further characterise this region of the human genome.
神经性厌食症（AN）是一种神秘的综合征，在英国约0.1%的高危人群中出现，相当于约7万名患者。多项研究的数据已证明该疾病具有遗传性，然而直到最近几年，研究才开始确定特定候选基因在这种遗传易感性中的作用。在本研究中，我们使用经典的病例对照关联分析来确定位于UCP - 2/UCP - 3基因座3厘摩区域内的两个高度多态性微卫星标记，是否显示人类基因组的该区域与AN易感性有关。对170名患有神经性厌食症的白人女性患者和150名正常女性对照组成的队列进行分析，结果显示与标记D11S911存在关联证据，但与D11S916无关。标记D11S911的等位基因13在神经性厌食症人群中显著过度代表，这表明与该基因座处于连锁不平衡状态的一个突变可能构成AN遗传成分的一部分。现在需要进一步开展工作，试图在第二个独立队列中重现这些数据，并进一步表征人类基因组的该区域。
