Division of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, DHHS, Bethesda, Maryland 20892-7240, USA.
Environ Mol Mutagen. 2013 Jan;54(1):72-7. doi: 10.1002/em.21739. Epub 2012 Oct 11.
The pattern-recognition pathway plays an important role in infection recognition and immune responses, and previous studies have suggested an association between genetic variation in innate immunity genes and non-Hodgkin lymphoma (NHL). We evaluated NHL risk associated with genetic variation in pattern-recognition genes using data from a case-control study of NHL conducted in Connecticut women. Single nucleotide polymorphisms (SNPs) in 27 pattern-recognition genes were genotyped in 432 Caucasian incident NHL cases and 494 frequency-matched controls. Unconditional logistic regression was used to compute odds ratios (ORs) for NHL and common NHL subtypes in relation to individual SNPs and haplotypes. A gene-based analysis that adjusted for the number of tagSNPs genotyped in each gene showed a significant association with overall NHL for the MBP gene (P = 0.028), with the diffuse large B-cell lymphoma (DLBCL) subtype for the MASP2 gene (P = 0.011), and with the follicular lymphoma (FL) subtype for DEFB126 (P = 0.041). A SNP-based analysis showed that MBP rs8094402 was associated with decreased risks of overall NHL (allele risk OR = 0.72, P-trend = 0.0018), DLBCL (allele risk OR = 0.72, P-trend = 0.036), and FL (allele risk OR = 0.67, P-trend = 0.021), while MASP2 rs12711521 was associated with a decreased risk of DLBCL (allele risk OR = 0.57, P-trend = 0.0042). We also observed an increased risk of FL for DEFB126 rs6054706 (allele risk OR = 1.39, P-trend = 0.033). Our results suggest that genetic variation in pattern-recognition genes is associated with the risk of NHL or specific NHL subtypes, but these preliminary findings require replication in larger studies.
模式识别途径在感染识别和免疫反应中发挥着重要作用，先前的研究表明，固有免疫基因的遗传变异与非霍奇金淋巴瘤（NHL）之间存在关联。我们使用在康涅狄格州女性中进行的 NHL 病例对照研究的数据，评估了模式识别基因遗传变异与 NHL 风险之间的关系。对 432 名白种人 NHL 发病病例和 494 名频数匹配对照的 27 个模式识别基因中的单核苷酸多态性（SNP）进行了基因分型。使用条件逻辑回归计算了个体 SNP 和单倍型与 NHL 和常见 NHL 亚型之间的比值比（OR）。在对每个基因中所检测到的标签 SNP 数量进行校正的基于基因的分析中，MBP 基因与 NHL 总体（P = 0.028）、MASP2 基因与弥漫性大 B 细胞淋巴瘤（DLBCL）亚型（P = 0.011）和 DEFB126 基因与滤泡性淋巴瘤（FL）亚型（P = 0.041）存在显著关联。基于 SNP 的分析表明，MBP rs8094402 与 NHL 总体（等位基因风险 OR = 0.72，P 趋势= 0.0018）、DLBCL（等位基因风险 OR = 0.72，P 趋势= 0.036）和 FL（等位基因风险 OR = 0.67，P 趋势= 0.021）的发病风险降低相关，而 MASP2 rs12711521 与 DLBCL 的发病风险降低相关（等位基因风险 OR = 0.57，P 趋势= 0.0042）。我们还观察到 DEFB126 rs6054706 与 FL 的发病风险增加相关（等位基因风险 OR = 1.39，P 趋势= 0.033）。我们的研究结果表明，模式识别基因的遗传变异与 NHL 或特定 NHL 亚型的风险相关，但这些初步发现需要在更大的研究中得到验证。
