Variation in P2RX7 Candidate Gene (rs2230912) Is Not Associated With Bipolar I Disorder and Unipolar Major Depression in Four European Samples
Variation in P2RX7 Candidate Gene (rs2230912) Is Not Associated With Bipolar I Disorder and Unipolar Major Depression in Four European Samples
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DOI：
10.1002/ajmg.b.30952
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发表时间：
2009-10-05
影响因子：
2.8
通讯作者：
Cichon, Sven
中科院分区：
文献类型：
--
作者：
Grigoroiu-Serbanescu, Maria;Herms, Stefan;Cichon, Sven
最近的两项研究报告了12q24染色体上位置候选基因P2RX7的遗传变异与双相I型障碍（BPI）之间的关联[Barden et al. (2006)；美国医学杂志B辑141B:374-382；McQuillin et al. (2008)；Mol Psychiatry 13:1-7]和一项研究发现与单极重性抑郁症（mdup）有关[Lucae et al. (2006)；[j].生物学报，15(3):2438-2445。在本研究中，我们的目标是在德国、波兰、罗马尼亚和俄罗斯共1445例欧洲I型双相情感障碍样本、德国复发性mdup患者样本（N = 640）和2006例对照样本中复制上述研究中显示最强关联的SNP，即rs2230912 (P2RX7-E13A)，该SNP导致谷氨酰胺在460位变为精氨酸（Gln460Arg）。我们在国家样本和合并的欧洲患者样本中均未发现rs2230912与BPI或mdup之间的等位基因或基因型关联。需要进一步的研究来阐明P2RX7和SNP rs2230912在主要情感性疾病病因学中的潜在参与。(C) 2009 Wiley-Liss, Inc。
Two recent studies reported evidence for association between genetic variation of the positional candidate gene P2RX7 on chromosome 12q24 and bipolar I disorder (BPI) [Barden et al. (2006); Am J Med Genet Part B 141B:374-382; McQuillin et al. (2008); Mol Psychiatry 13:1-7] and one study found association with unipolar major depression (Mdd-UP) [Lucae et al. (2006); Hum Mol Genet 15:2438-2445]. In the present work, we aimed to replicate the SNP that showed the strongest association in the above-mentioned studies, namely rs2230912 (P2RX7-E13A) resulting in a change of the amino acid glutamine to arginine at position 460 (Gln460Arg), in four European bipolar I disorder samples from Germany, Poland, Romania, and Russia totaling 1,445 patients, in a German sample of recurrent Mdd-UP patients (N = 640), and a control sample of 2,006 subjects. We found no allelic or genotypic association between rs2230912 and BPI or Mdd-UP both in the national samples and in the combined European patient sample. Additional studies are needed to clarify the potential involvement of P2RX7 and of SNP rs2230912 in the etiology of major affective disorders. (C) 2009 Wiley-Liss, Inc.