Zhi Li-Qiang, Ma Wei, Zhang Hong, Zeng Si-Xiang, Chen Bo
Department of Orthopedics, The First Affiliated Hospital of Xi'an Jiaotong University, No. 227, YanTa West Rd, Xi'an, 710061, China.
Tumour Biol. 2014 Apr;35(4):3255-9. doi: 10.1007/s13277-013-1425-4. Epub 2013 Nov 28.
Despite the knowledge on many genetic variants present in osteosarcoma, the complexity of this disease precludes placing its biology into a simple conceptual framework. RECQL is a DNA helicase involved in DNA mismatch repair and has been reported to be associated with many human cancers. We aimed to investigate the association of RECQL genetic polymorphism with osteosarcoma in a Chinese population. We selected three polymorphisms of the RECQL5 gene (rs820196, rs820200, and rs4789223) in the present study. TaqMan method was utilized for genotyping these three SNPs in 212 patients with osteosarcoma and 240 age- and sex-matched noncancer controls. In our study, we found that CC genotype in rs820196 (17.5 vs 8.3%, P = 0.005) and AA genotype in rs4789223 (21.7 vs 14.2, P < 0.001) were more frequent in osteosarcoma group compared to the control group, respectively. We also found that the C allele of rs820196 (OR = 1.492, 95% CI 1.138 ∼ 1.951; P = 0.004) and A allele of rs4789223 (OR = 1.767, 95% CI: 1.354 ∼ 2.301; P < 0.001) were common in the osteosarcoma patients than those in the control subjects, respectively. Haplotype analysis showed that TTA (OR = 3.469, 95% CI 1.798 ∼ 6.695; P < 0.001) was associated with increased risk for osteosarcoma. However, the TTG (OR = 0.578, 95% CI 0.442 ∼ 0.756) was associated with decreased risk for osteosarcoma. Our results suggested that RECQL5 genetic polymorphisms were associated with osteosarcoma in a Chinese population.
尽管对骨肉瘤中存在的许多基因变异已有了解，但这种疾病的复杂性使其生物学特性难以纳入一个简单的概念框架。RECQL是一种参与DNA错配修复的DNA解旋酶，据报道与多种人类癌症相关。我们旨在研究中国人群中RECQL基因多态性与骨肉瘤的关联。在本研究中，我们选择了RECQL5基因的三个多态性位点（rs820196、rs820200和rs4789223）。采用TaqMan方法对212例骨肉瘤患者和240例年龄及性别匹配的非癌症对照者进行这三个单核苷酸多态性（SNP）的基因分型。在我们的研究中，我们发现与对照组相比，rs820196位点的CC基因型（17.5%对8.3%，P = 0.005）和rs4789223位点的AA基因型（21.7%对14.2%，P < 0.001）在骨肉瘤组中更为常见。我们还发现，rs820196位点的C等位基因（OR = 1.492，95%可信区间1.138 ∼ 1.951；P = 0.004）和rs4789223位点的A等位基因（OR = 1.767，95%可信区间：1.354 ∼ 2.301；P < 0.001）在骨肉瘤患者中分别比对照组更为常见。单倍型分析表明，TTA（OR = 3.469，95%可信区间1.798 ∼ 6.695；P < 0.001）与骨肉瘤风险增加相关。然而，TTG（OR = 0.
