Functional Polymorphisms at ERCC1/XPF Genes Confer Neuroblastoma Risk in Chinese Children.
Functional Polymorphisms at ERCC1/XPF Genes Confer Neuroblastoma Risk in Chinese Children.
复制标题
ERCC1/XPF 基因的功能多态性导致中国儿童患神经母细胞瘤的风险。
DOI：
10.1016/j.ebiom.2018.03.003
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发表时间：
2018-04
期刊：
影响因子：
11.1
通讯作者：
Xia H
中科院分区：
文献类型：
--
作者：
Zhuo ZJ;Liu W;Zhang J;Zhu J;Zhang R;Tang J;Yang T;Zou Y;He J;Xia H
核苷酸切除修复途径基因的变异可能易诱发癌症。然而，ERCC 1/XPF基因多态性和神经母细胞瘤的风险尚未调查。为了评估ERCC 1/XPF基因多态性与神经母细胞瘤易感性的相关性，我们对393例中国人和812例对照进行了ERCC 1/XPF基因的4个多态性基因分型。结果显示ERCC 1 rs 2298881和rs 11615倾向于增加神经母细胞瘤风险[CA vs. AA：校正比值比（OR）= 1.94，95%置信区间（CI）= 1.30-2.89，P = 0.0012; CC vs. AA：rs 2298881的校正OR = 2.18，95%CI = 1.45-3.26，P = 0.0002，AG与GG：rs 11615的校正OR = 1.31，95%CI = 1.02-1.69，P = 0.038]。此外，XPF rs 2276466也与神经母细胞瘤风险增加相关（GG vs. CC：校正OR = 1.66，95%CI = 1.02-2.71，P = 0.043）。在ERCC 1基因的联合分析中，我们发现具有2-3个危险基因型的携带者比具有0-1个危险基因型的携带者更容易患神经母细胞瘤（校正OR = 1.75，95%CI = 1.25-2.45，P = 0.0012）。我们的研究表明，ERCC 1/XPF基因中的常见遗传变异容易导致神经母细胞瘤风险，这需要通过持续的努力进一步验证。ERCC 1 rs 2298881、rs 11615和XPF rs 2276466与神经母细胞瘤风险增加相关。ERCC 1 rs 2298881 CC和AC/CC基因型携带者与ERCC 1 mRNA表达增加相关。这是ERCC 1/XPF基因多态性与神经母细胞瘤风险的最全面的研究。在目前对393例神经母细胞瘤病例和812例对照的中国人群的研究中，我们发现ERCC 1 rs 2298881、rs 11615和XPF rs 2276466与神经母细胞瘤风险增加相关。我们还证实了ERCC 1 rs 2298881 CC和AC/CC基因型携带者与ERCC 1 mRNA表达增加相关。这是迄今为止调查ERCC 1/XPF基因多态性与神经母细胞瘤风险之间关系的最全面的研究。
Variations in nucleotide excision repair pathway genes may predispose to initiation of cancers. However, polymorphisms of ERCC1/XPF genes and neuroblastoma risk have not been investigated before. To evaluate the relevance of polymorphisms of ERCC1/XPF genes in influencing neuroblastoma susceptibility, we genotyped four polymorphisms in ERCC1/XPF genes using a Chinese population of 393 cases and 812 controls. The results showed that ERCC1 rs2298881 and rs11615 predisposed to enhanced neuroblastoma risk [CA vs. AA: adjusted odds ratio (OR) = 1.94, 95% confidence interval (CI) = 1.30–2.89, P = 0.0012; CC vs. AA: adjusted OR = 2.18, 95% CI = 1.45–3.26, P = 0.0002 for rs2298881, and AG vs. GG: adjusted OR = 1.31, 95% CI = 1.02–1.69, P = 0.038 for rs11615]. Moreover, XPF rs2276466 was also associated with increased neuroblastoma risk (GG vs. CC: adjusted OR = 1.66, 95% CI = 1.02–2.71, P = 0.043). In the combined analysis of ERCC1, we found that carriers with 2–3 risk genotypes were more likely to get risk of neuroblastoma, when compared to those with 0–1 risk genotype (adjusted OR = 1.75; 95% CI = 1.25–2.45, P = 0.0012). Our study indicates that common genetic variations in ERCC1/XPF genes predispose to neuroblastoma risk, which needs to be further validated by ongoing efforts. ERCC1 rs2298881, rs11615 and XPF rs2276466 were associated with increased neuroblastoma risk. ERCC1 rs2298881 CC and AC/CC genotypes carriers were associated with increased ERCC1 mRNA expression. This is the most comprehensive study for ERCC1/XPF genes polymorphisms and neuroblastoma risk. In the current study with a Chinese population of 393 neuroblastoma cases and 812 controls, we found that ERCC1 rs2298881, rs11615 and XPF rs2276466 were associated with increased neuroblastoma risk. We also confirmed that ERCC1 rs2298881 CC and AC/CC genotypes carriers were associated with increased ERCC1 mRNA expression. This is by far the most comprehensive study investigating the association between the ERCC1/XPF genes polymorphisms and neuroblastoma risk.
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影响因子：
5.3
作者：
He J;Yang T;Zhang R;Zhu J;Wang F;Zou Y;Xia H
通讯作者：
Xia H
影响因子：
11
作者：
Esposito MR;Aveic S;Seydel A;Tonini GP
通讯作者：
Tonini GP
影响因子：
56.9
作者：
Houtsmuller, AB;Rademakers, S;Vermeulen, W
通讯作者：
Vermeulen, W
影响因子：
5.3
作者：
He, Jing;Qiu, Li-Xin;Li, Jin
通讯作者：
Li, Jin
影响因子：
5
作者：
Cook, MN;Olshan, AF;Pollock, BH
通讯作者：
Pollock, BH