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BRCA2 N372H 多态性与斯洛伐克人群滤泡性淋巴瘤风险的关联。

Association of follicular lymphoma risk with BRCA2 N372H polymorphism in Slovak population.

机构信息

Department of Medical Biology, School of Medicine, University of P. J. Šafárik, Tr. SNP 1, 040 11, Košice, Slovakia.

出版信息

Med Oncol. 2012 Jun;29(2):1173-8. doi: 10.1007/s12032-011-9925-9. Epub 2011 Apr 8.

DOI:10.1007/s12032-011-9925-9
PMID:21476145
Abstract

Follicular lymphoma (FL) is one of the most common Non-Hodgkin lymphoma (NHL) subtype. Only small number of studies concerning NHL and DNA reparation gene polymorphisms has been performed so far. Hence, we have assessed the effect of 4 selected polymorphisms with possible influence on risk of FL development in a case-control study in Slovak population. We have genotyped polymorphisms in the RAG1 (K820R), LIG4 (T9I), BRCA2 (N372H), and WRN (V114I) genes in 108 patients with histologically proven FL diagnosis and 127 healthy controls. For discrimination between the allelic variants, we have established the genotyping by real-time melting analysis of an unlabeled probe. The most notable finding was related to polymorphism N372H in the BRCA2 gene. Compared with the wild-type genotype (NN), the homozygous variant genotype (HH) was associated with an increased FL risk (OR = 2.91, 95% CI: 0.96-8.81), although on the borderline of statistical significance (P = 0.050). However, after stratification by gender and age, the FL risk was significantly increased in men with variant-containing genotypes (OR = 2.79, 95% CI: 1.20-6.45) and even severalfold significantly increased among men with homozygous variant BRCA2 genotype (OR = 21.18, 95% CI: 2.46-182.2). No significant associations with FL risk were identified for other polymorphisms.

摘要

滤泡性淋巴瘤 (FL) 是最常见的非霍奇金淋巴瘤 (NHL) 亚型之一。迄今为止,仅有少数关于 NHL 和 DNA 修复基因多态性的研究。因此,我们在斯洛伐克人群中进行了一项病例对照研究,评估了 4 个选定的多态性对 FL 发病风险的影响,这些多态性可能对风险有影响。我们对 108 例经组织学证实的 FL 诊断患者和 127 名健康对照者的 RAG1 (K820R)、LIG4 (T9I)、BRCA2 (N372H) 和 WRN (V114I) 基因中的多态性进行了基因分型。为了区分等位基因变异,我们建立了实时熔解分析非标记探针的基因分型。最显著的发现与 BRCA2 基因中的多态性 N372H 有关。与野生型基因型 (NN) 相比,纯合变异基因型 (HH) 与 FL 风险增加相关 (OR = 2.91, 95% CI: 0.96-8.81),尽管处于统计学意义的边缘 (P = 0.050)。然而,在按性别和年龄分层后,携带变异基因型的男性 FL 风险显著增加 (OR = 2.79, 95% CI: 1.20-6.45),甚至携带纯合变异 BRCA2 基因型的男性 FL 风险增加了数倍 (OR = 21.18, 95% CI: 2.46-182.2)。其他多态性与 FL 风险无显著关联。

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