The University of Texas MD Anderson Cancer Center, Houston, TX, USA.
Breast Cancer Res Treat. 2013 Apr;138(3):917-24. doi: 10.1007/s10549-013-2445-x. Epub 2013 Mar 26.
To examine the role of germline genetic variations in inflammatory pathways as modifiers of time to recurrence (TTR) in patients with early stage breast cancer (BC), DNA from 997 early stage BC patients was genotyped for 53 tagging single nucleotide polymorphisms (SNPs) in 12 genes involved in inflammation. SNPs were analyzed separately for Caucasians versus African-Americans and Hispanics. Cox proportional hazards models were used to evaluate the association between SNPs in the inflammatory genes and TTR, adjusted for clinical and pathologic covariates. In univariable analyses of Caucasian women, the homozygous genotype of 12 SNPs, including 6 NFKB1 SNPs, 4 IL4 SNPs, and 2 IL13 SNPs, were significantly associated with a decrease in TTR compared with the heterozygous and/or corresponding homozygous genotype (P < 0.05). The significant NFKB1 and IL4 SNPs were in an area of high linkage disequilibrium (D' > 0.8). After adjusting for stage, age, and treatment, carriage of the homozygous genotypes for NFKB1 rs230532 and IL13rs1800925 were independently associated with a shorter TTR (P = 0.001 and P = 0.034, respectively). In African-American and Hispanic patients, expression of NFKB1 rs3774932, TNFrs1799964, and IL4rs3024543 SNPs were associated with a shorter TTR in univariable model. Only NFKB1 rs3774932 (P = 0.02) and IL4Rrs3024543 (P = 0.03) had independent prognostic value in the multivariable model These data support the existence of host genetic susceptibility as a component in recurrence risk mediated by pro-inflammatory and immune factors, and suggest the potential for drugs which modify immune responses and inflammatory genes to improve prognosis in early stage BC.
为了研究炎症通路中的种系遗传变异作为早期乳腺癌(BC)患者复发时间(TTR)的调节剂的作用,对 997 例早期 BC 患者的 DNA 进行了 12 个炎症相关基因中的 53 个标记单核苷酸多态性(SNP)的基因分型。对高加索人与非裔美国人以及西班牙裔之间的 SNP 分别进行了分析。使用 Cox 比例风险模型评估炎症基因中的 SNP 与 TTR 之间的关联,调整了临床和病理协变量。在高加索女性的单变量分析中,与杂合子和/或相应的纯合子基因型相比,包括 6 个 NFKB1 SNP、4 个 IL4 SNP 和 2 个 IL13 SNP 的 12 个 SNP 的纯合基因型与 TTR 降低显著相关(P<0.05)。显著的 NFKB1 和 IL4 SNP 位于高度连锁不平衡区域(D' > 0.8)。在调整了分期、年龄和治疗后,NFKB1 rs230532 和 IL13 rs1800925 的纯合基因型的携带与更短的 TTR 独立相关(P=0.001 和 P=0.034)。在非裔美国人和西班牙裔患者中,NFKB1 rs3774932、TNF rs1799964 和 IL4 rs3024543 SNP 的表达在单变量模型中与 TTR 缩短相关。只有 NFKB1 rs3774932(P=0.02)和 IL4R rs3024543(P=0.03)在多变量模型中具有独立的预后价值。这些数据支持宿主遗传易感性作为促炎和免疫因素介导的复发风险的一个组成部分的存在,并表明修饰免疫反应和炎症基因的药物有可能改善早期 BC 的预后。