CASP8 variants D302H and -652 6N ins/del do not influence the risk of colorectal cancer in the United Kingdom population.
CASP8 variants D302H and -652 6N ins/del do not influence the risk of colorectal cancer in the United Kingdom population.
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DOI：
10.1038/sj.bjc.6604314
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发表时间：
2008-04-22
影响因子：
8.8
通讯作者：
Houlston, R. S.
中科院分区：
文献类型：
--
作者：
Pittman, A. M.;Broderick, P.;Sullivan, K.;Fielding, S.;Webb, E.;Penegar, S.;Tomlinson, I.;Houlston, R. S.
CASP 8 2q33.1的多态性与癌症发生风险相关，特别是欧洲人群中乳腺癌的D302 H变体（rs 1045485）和中国人群中包括结直肠癌（CRC）在内的多种肿瘤的−652 6 N ins/del启动子变体（rs3834129）。我们通过对4016例病例和3749例对照进行基因分型，评估了−652 6 N ins/del和D302 H变异与英国人群发生CRC风险之间的关系。两种变异均未显示与发生CRC风险相关的证据（分别为P=0.42和0.22）。相比之下，最近发现的CRC易感等位基因rs6983267定位于8 q24，与疾病风险显著相关（P=8.94 × 10−8）。因此，由−652 6 N ins/del或D302 H定义的CASP 8变异不太可能影响欧洲人群中CRC的风险。我们的研究结果的影响，无论是在特定人群的影响和出版偏见进行了讨论。
Polymorphisms in CASP8 at 2q33.1 have been associated with the risk of developing cancer, specifically, the D302H variant (rs1045485) with breast cancer in the European population and the −652 6N ins/del promoter variant (rs3834129) with multiple tumours including colorectal cancer (CRC) in the Chinese population. We evaluated the relationship between −652 6N ins/del and D302H variants and risk of developing CRC in the UK population by genotyping 4016 cases and 3749 controls. Both variants showed no evidence of an association with risk of developing CRC (P=0.42 and 0.22, respectively). In contrast, the recently identified CRC susceptibility allele rs6983267 mapping to 8q24 was significantly associated with disease risk (P=8.94 × 10−8). It is thus very unlikely that variation in CASP8 defined by −652 6N ins/del or D302H influences the risk of CRC in European populations. The implications of our findings both in terms of population-specific effects and publication bias are discussed.
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影响因子：
30.8
作者：
Zanke, Brent W.;Greenwood, Celia M. T.;Dunlop, Malcolm G.
通讯作者：
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