4.4 Article

Association of follicular lymphoma risk with BRCA2 N372H Polymorphism in Slovak population

期刊

MEDICAL ONCOLOGY
卷 29, 期 2, 页码 1173-1178

出版社

HUMANA PRESS INC
DOI: 10.1007/s12032-011-9925-9

关键词

Follicular lymphoma; DNA repair genes; Single-nucleotide polymorphisms

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资金

  1. Ministry of Education of Slovak Republic [VEGA 1/0864/08]
  2. project Network of Excellent Laboratories for Oncology, Operational Program Research and Development
  3. European Fund for Regional Development
  4. SEPO [007/2009/2.1/(25%)]

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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.

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