Rare TP53 genetic variant associated with glioma risk and outcome.

Rare TP53 genetic variant associated with glioma risk and outcome.
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DOI:
10.1136/jmedgenet-2012-100941
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发表时间:
2012-07
影响因子:
4
通讯作者:
Thompson RC
Thompson RC
中科院分区:
医学1区
文献类型:
--
作者:
Egan KM;Nabors LB;Olson JJ;Monteiro AN;Browning JE;Madden MH;Thompson RC

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最近的一项发现证实了一种罕见的TP53变异与神经胶质瘤(最常见的原发性脑肿瘤)的风险有关。本研究对566例胶质瘤病例和603例对照进行了单核苷酸多态性(SNP) rs78378222基因分型。变异“C”等位基因(在对照组中等位基因频率为1.1%)与神经胶质瘤风险增加3.5倍相关(优势比3.54;p=0.0001)。与非携带者相比,变异携带者的生存率显著提高(风险比0.52;p=0.009)。rs78378222 SNP是胶质瘤中第一个被证实的罕见易感性变异。结果可能阐明这些肿瘤的病因和进展。
Validation of a recent finding linking a rare variant in TP53 to the risk of glioma, the most common primary brain tumour, is reported here. This study genotyped the single nucleotide polymorphism (SNP) rs78378222 in 566 glioma cases and 603 controls. The variant ‘C’ allele (with an allelic frequency of 1.1% in controls) was associated with a 3.5-fold excess in glioma risk (odds ratio 3.54; p=0.0001). Variant carriers had significantly improved survival (hazard ratio 0.52; p=0.009) when compared to non-carriers. The rs78378222 SNP is the first confirmed rare susceptibility variant in glioma. Results may shed light on the aetiology and progression of these tumours.
DOI: 10.1038/ng.926
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稀有变体会产生整个基因组的关联。
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