Ganster Christina, Neesen Jürgen, Zehetmayer Sonja, Jäger Ulrich, Esterbauer Harald, Mannhalter Christine, Kluge Britta, Fonatsch Christa
Department of Medical Genetics, Medical University of Vienna, Vienna, Austria.
Genes Chromosomes Cancer. 2009 Sep;48(9):760-7. doi: 10.1002/gcc.20680.
Genetic polymorphisms in DNA repair genes can affect the risk of developing different forms of cancer. Therefore, we have studied the putative association of seven single nucleotide polymorphisms (SNPs) in five DNA repair genes with the incidence of chronic lymphocytic leukemia (CLL). We included 461 CLL patients and the same number of age- and sex-matched controls. As chromosomal aberrations are important prognostic markers in CLL, we additionally correlated the SNPs with the occurrence of favorable and unfavorable cytogenetic aberrations in CLL patients. Patients with del(13q) as a sole aberration were allocated to the favorable cytogenetic risk group, and patients with del(17p) and/or del(11q) to the unfavorable cytogenetic risk group. All investigated SNPs were equally distributed between patients with the favorable cytogenetic aberration and controls. However, differences were observed in the distribution of rs13181 in ERCC2 between all CLL patients and controls. Moreover, the clearest differences were found for rs13181 in ERCC2 and rs25487 in XRCC1 between CLL patients with unfavorable cytogenetic aberrations and controls. These data suggest that inborn genetic polymorphisms may predict the outcome of CLL.
DNA修复基因中的遗传多态性可能会影响患不同类型癌症的风险。因此，我们研究了五个DNA修复基因中的七个单核苷酸多态性（SNP）与慢性淋巴细胞白血病（CLL）发病率之间的假定关联。我们纳入了461例CLL患者以及相同数量的年龄和性别匹配的对照。由于染色体畸变是CLL重要的预后标志物，我们还将这些SNP与CLL患者中预后良好和不良的细胞遗传学畸变的发生情况进行了关联分析。将仅存在del(13q)作为唯一畸变的患者归入预后良好的细胞遗传学风险组，将存在del(17p)和/或del(11q)的患者归入预后不良的细胞遗传学风险组。所有研究的SNP在预后良好的细胞遗传学畸变患者和对照之间分布均匀。然而，在所有CLL患者和对照之间，ERCC2基因中的rs13181的分布存在差异。此外，在预后不良的细胞遗传学畸变的CLL患者和对照之间，ERCC2基因中的rs13181和XRCC1基因中的rs25487的差异最为明显。这些数据表明，先天性遗传多态性可能预测CLL的预后。
