半胱天冬酶8（CASP8）中的一种常见编码变异与乳腺癌风险相关。
A common coding variant in CASP8 is associated with breast cancer risk.
作者信息
Cox Angela, Dunning Alison M, Garcia-Closas Montserrat, Balasubramanian Sabapathy, Reed Malcolm W R, Pooley Karen A, Scollen Serena, Baynes Caroline, Ponder Bruce A J, Chanock Stephen, Lissowska Jolanta, Brinton Louise, Peplonska Beata, Southey Melissa C, Hopper John L, McCredie Margaret R E, Giles Graham G, Fletcher Olivia, Johnson Nichola, dos Santos Silva Isabel, Gibson Lorna, Bojesen Stig E, Nordestgaard Børge G, Axelsson Christen K, Torres Diana, Hamann Ute, Justenhoven Christina, Brauch Hiltrud, Chang-Claude Jenny, Kropp Silke, Risch Angela, Wang-Gohrke Shan, Schürmann Peter, Bogdanova Natalia, Dörk Thilo, Fagerholm Rainer, Aaltonen Kirsimari, Blomqvist Carl, Nevanlinna Heli, Seal Sheila, Renwick Anthony, Stratton Michael R, Rahman Nazneen, Sangrajrang Suleeporn, Hughes David, Odefrey Fabrice, Brennan Paul, Spurdle Amanda B, Chenevix-Trench Georgia, Beesley Jonathan, Mannermaa Arto, Hartikainen Jaana, Kataja Vesa, Kosma Veli-Matti, Couch Fergus J, Olson Janet E, Goode Ellen L, Broeks Annegien, Schmidt Marjanka K, Hogervorst Frans B L, Van't Veer Laura J, Kang Daehee, Yoo Keun-Young, Noh Dong-Young, Ahn Sei-Hyun, Wedrén Sara, Hall Per, Low Yen-Ling, Liu Jianjun, Milne Roger L, Ribas Gloria, Gonzalez-Neira Anna, Benitez Javier, Sigurdson Alice J, Stredrick Denise L, Alexander Bruce H, Struewing Jeffery P, Pharoah Paul D P, Easton Douglas F
机构信息
Sheffield University Medical School, Sheffield S10 2RX, UK.
出版信息
Nat Genet. 2007 Mar;39(3):352-8. doi: 10.1038/ng1981. Epub 2007 Feb 11.
The Breast Cancer Association Consortium (BCAC) has been established to conduct combined case-control analyses with augmented statistical power to try to confirm putative genetic associations with breast cancer. We genotyped nine SNPs for which there was some prior evidence of an association with breast cancer: CASP8 D302H (rs1045485), IGFBP3 -202 C --> A (rs2854744), SOD2 V16A (rs1799725), TGFB1 L10P (rs1982073), ATM S49C (rs1800054), ADH1B 3' UTR A --> G (rs1042026), CDKN1A S31R (rs1801270), ICAM5 V301I (rs1056538) and NUMA1 A794G (rs3750913). We included data from 9-15 studies, comprising 11,391-18,290 cases and 14,753-22,670 controls. We found evidence of an association with breast cancer for CASP8 D302H (with odds ratios (OR) of 0.89 (95% confidence interval (c.i.): 0.85-0.94) and 0.74 (95% c.i.: 0.62-0.87) for heterozygotes and rare homozygotes, respectively, compared with common homozygotes; P(trend) = 1.1 x 10(-7)) and weaker evidence for TGFB1 L10P (OR = 1.07 (95% c.i.: 1.02-1.13) and 1.16 (95% c.i.: 1.08-1.25), respectively; P(trend) = 2.8 x 10(-5)). These results demonstrate that common breast cancer susceptibility alleles with small effects on risk can be identified, given sufficiently powerful studies.
乳腺癌协会联盟（BCAC）已成立，旨在进行综合病例对照分析，以增强统计效力，试图确认与乳腺癌假定的基因关联。我们对九个单核苷酸多态性（SNP）进行了基因分型，此前已有一些证据表明这些SNP与乳腺癌有关联：半胱天冬酶8（CASP8）D302H（rs1045485）、胰岛素样生长因子结合蛋白3（IGFBP3）-202 C→A（rs2854744）、超氧化物歧化酶2（SOD2）V16A（rs1799725）、转化生长因子β1（TGFB1）L10P（rs1982073）、共济失调毛细血管扩张症突变基因（ATM）S49C（rs1800054）、乙醇脱氢酶1B（ADH1B）3'非翻译区A→G（rs1042026）、细胞周期蛋白依赖性激酶抑制因子1A（CDKN1A）S31R（rs1801270）、细胞间黏附分子5（ICAM5）V301I（rs1056538）和核有丝分裂器蛋白1（NUMA1）A794G（rs3750913）。我们纳入了9至15项研究的数据，包括11391至18290例病例和14753至22670例对照。我们发现，CASP8 D302H与乳腺癌存在关联证据（杂合子和罕见纯合子与常见纯合子相比，优势比（OR）分别为0.89（95%置信区间（c.i.）：0.85 - 0.94）和0.74（95% c.i.：0.62 - 0.87）；趋势P值 = 1.1×10⁻⁷），而TGFB1 L10P的关联证据较弱（OR分别为1.07（95% c.i.：1.02 - 1.13）和1.16（95% c.i.：1.08 - 1.25）；趋势P值 = 2.8×10⁻⁵）。这些结果表明，在有足够效力的研究中，可以识别出对风险影响较小的常见乳腺癌易感等位基因。
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