Lack of association between variations in the melanocortin 5 receptor gene and bipolar disorder.
Lack of association between variations in the melanocortin 5 receptor gene and bipolar disorder.
复制标题
黑皮质素 5 受体基因变异与双相情感障碍之间缺乏关联。
DOI：
10.1097/00041444-200512000-00007
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发表时间：
2005
期刊：
影响因子：
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通讯作者：
Berrettini,WadeH
中科院分区：
文献类型：
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作者：
Lohoff,FalkW;Berrettini,WadeH
目的黑皮质素5受体基因定位于染色体18p11上的双极易感位点。 2. 鉴于黑皮质素的生物学作用及其对下丘脑-垂体-肾上腺轴的影响，黑皮质素 5 受体基因可能是双相情感障碍的候选基因。我们在一项病例对照研究中测试了潜在的功能变异 Phe209Leu 赋予双相情感障碍易感性的假设。方法从 345 名不相关的 I 型双相情感障碍患者和 275 名对照样本中获得了编码区的两种变异和编码区上游约 7 kb 处的一种变异的基因型。采用χ 2 列联分析比较各组之间的基因型和等位基因频率。结果Phe209Leu 多态性等位基因频率在双相情感障碍患者和对照组之间无显着差异（P=0.679）。 C744T 等位基因频率和基因间 A/G 多态性在双相情感障碍患者和对照之间没有显着差异。所有变异均处于强连锁不平衡状态。 结论 黑皮质素 5 受体基因的变异不太可能导致该样本对双相情感障碍的易感性。需要进一步的研究来阐明染色体 18p11 上双相情感障碍的易感位点。
ObjectiveThe melanocortin 5 receptor gene maps to the bipolar susceptibility locus on chromosome 18p11. 2. Given the biological role of melanocortins and their influence on the hypothalamic–pituitary–adrenal axis, the melanocortin 5 receptor gene is a plausible candidate gene for bipolar disorder. We tested the hypothesis that the potential functional variation Phe209Leu confers susceptibility to bipolar disorder in a case–control study.MethodsGenotypes for two variations in the coding region and one variation approximately 7 kb upstream from the coding region were obtained from 345 unrelated bipolar I patients and 275 control samples. Genotypes and allele frequencies were compared between groups using χ 2 contingency analysis.ResultsAllele frequencies of the Phe209Leu polymorphism did not differ significantly between bipolar patients and controls (P= 0.679). Allele frequencies of the C744T and the intergenic A/G polymorphism did not differ significantly between bipolar patients and controls. All variations were in strong linkage disequilibrium.ConclusionVariations in the melanocortin 5 receptor gene are unlikely to confer susceptibility to bipolar disorder in this sample. Further studies are required to elucidate the susceptibility locus for bipolar disorder on chromosome 18p11.