Gene-based SNP genetic association study of the corticotropin-releasing hormone receptor-2 (CRHR2) in major depression.

Gene-based SNP genetic association study of the corticotropin-releasing hormone receptor-2 (CRHR2) in major depression.
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重度抑郁症中促肾上腺皮质激素释放激素受体 2 (CRHR2) 的基于基因的 SNP 遗传关联研究。

DOI:
10.1002/ajmg.10179
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发表时间:
2002
期刊:
American journal of medical genetics
影响因子:
--
通讯作者:
S. Claes
S. Claes
中科院分区:
--
文献类型:
--
作者:
Sandra M. Villafuerte;J. Del;R. Adolfsson;D. Souery;I. Massat;J. Mendlewicz;C. van Broeckhoven;S. Claes

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越来越多的数据表明,情感性障碍与下丘脑-垂体-肾上腺(HPA)轴(应激反应系统)的失调有关。促肾上腺皮质激素释放激素受体-2 (CRHR2)缺陷小鼠表现出应激敏感和焦虑样表型,这表明CRHR2是一个可能的功能候选基因,影响HPA轴的反应性,从而导致情感性障碍的发生。本研究构建了促肾上腺皮质激素释放激素受体2 (CRHR2)基于基因的单核苷酸多态性(SNP)图谱,其中包含1个位于第10外显子的同义cSNP、2个内含子SNP和2个位于5'上游调控区的SNP。在比利时单极(UP)患者和年龄、性别和种族匹配的对照者之间,5个snp中有4个的等位基因或基因型频率没有发现显著差异。cSNP确实显示等位基因和基因型相关性,具有临界意义(P=0.04)。然而,在比利时血统的双极样本和瑞典UP样本中对该cSNP的复制研究没有显示等位基因和基因型频率的显着差异。
An increasing amount of data suggests that affective disorders are related to dysregulation of the hypothalamic-pituitary-adrenal (HPA) axis, the stress-response system. Corticotropin-releasing hormone receptor-2 (CRHR2)-deficient mice display a stress-sensitive and anxiety-like phenotype suggesting that the CRHR2 is a plausible functional candidate gene influencing the reactivity of the HPA axis and therefore the liability to develop affective disorders. In this study, a gene-based single nucleotide polymorphism (SNP) map of the corticotropin-releasing hormone receptor 2 (CRHR2) was constructed containing one synonymous cSNP in exon 10, two intronic SNPs, and two SNPs in the 5' upstream regulatory region. No significant difference in allele or genotype frequency was found for four out of the five SNPs between Belgian unipolar (UP) patients and age-, gender-, and ethnicity-matched controls. The cSNP did show allelic and genotypic association with borderline significance (P=0.04). However, a replication study of this cSNP in a bipolar sample of Belgian origin and a Swedish UP sample did not show significant differences in allele and genotype frequencies.
DOI: 10.1001/archpsyc.1985.01790350067012
发表时间: 1985-12
影响因子: --
作者:
G. Arana;R. Baldessarini;M. Ornsteen
通讯作者: G. Arana;R. Baldessarini;M. Ornsteen
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发表时间: 1996-04
期刊: Endocrinology
影响因子: 4.8
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通讯作者: Charlotte O. Ladd;M. Owens;C. Nemeroff