NBS1 rs2735383 polymorphism is associated with an increased risk of laryngeal carcinoma.
NBS1 rs2735383 polymorphism is associated with an increased risk of laryngeal carcinoma.
复制标题
NBS1 rs2735383 多态性与喉癌风险增加相关
DOI：
10.1186/s12885-018-4078-2
复制
发表时间：
2018-02-12
期刊：
影响因子：
3.8
通讯作者：
Nong Q
中科院分区：
文献类型：
--
作者：
Hu X;Liao J;Zhao H;Chen F;Zhu X;Li J;Nong Q
Nijmegen断裂综合征1（NBS 1）是DNA双链断裂（DSB）修复途径中的一个关键蛋白，在维持基因组稳定性方面起着重要作用。虽然NBS 1的单核苷酸多态性（SNPs）在多种癌症中经常被研究，但两个功能性NBS 1多态性（rs 2735383和rs 1805794）与喉癌的关系尚不清楚。因此，本研究采用病例对照研究方法，对342例喉癌患者和345例正常人进行了NBS 1基因多态性与喉癌发病风险的相关性分析。采用聚合酶链反应-限制性片段长度多态性（PCR-RFLP）方法检测NBS 1基因功能性SNPs的基因型。与纯合子rs 2735383 GG基因型相比，CC基因型与喉癌发病风险显著相关（校正OR = 1.884，95%CI = 1.215-2.921）。rs 2735383 C变异基因型（GC + CC）使喉癌的发病风险增加1.410倍（校正OR = 1.410，95%CI = 1.004-1.980）。与rs 2735383 GG基因型相比，GC和CC基因型联合表达的NBS 1 mRNA水平显著降低（P = 0.003）。而rs 1805794 G> C多态性与胃癌风险无显著相关性（GC校正OR = 1.074，95%CI = 0.759-1.518; CC校正OR = 1.100，95%CI = 0.678-1.787; GC + CC校正OR = 1.079，95%CI = 0.774-1.505）。这些研究结果表明，NBS 1的rs 2735383 G> C多态性可能在喉癌的发生中发挥关键作用。本文的在线版本（10.1186/s12885-018-4078-2）包含补充材料，可供授权用户使用。
Nijmegen breakage syndrome 1 (NBS1), as a key protein in the DNA double-strand breaks (DSBs) repair pathway, plays an important role in maintaining genomic stability. Although single nucleotide polymorphisms (SNPs) in NBS1 have frequently been studied in multiple cancers, the relationships of two functional NBS1 polymorphisms (rs2735383 and rs1805794) with laryngeal carcinoma are yet unclear. Therefore, in the present study, we performed a case-control study including 342 cases and 345 controls to analyze the associations between two polymorphisms of NBS1 and the risk of laryngeal carcinoma. We used the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method to determine the genotypes of the functional SNPs in NBS1 gene. In comparison with the homozygous rs2735383GG genotype, the CC genotype was significantly associated with an increased risk of laryngeal carcinoma (adjusted OR = 1.884, 95%CI = 1.215–2.921). The rs2735383C variant genotypes (GC + CC) conferred a 1.410-fold increased risk of laryngeal carcinoma (adjusted OR = 1.410, 95%CI = 1.004–1.980). Furthermore, when compared to rs2735383GG genotype in laryngeal carcinoma tissues, the combined GC and CC genotypes exerted a significantly lower mRNA level of NBS1 (P = 0.003). In contrast, no significant association was found between rs1805794G > C polymorphism and cancer risk (adjusted OR = 1.074, 95%CI = 0.759–1.518 for GC; adjusted OR = 1.100, 95%CI = 0.678–1.787 for CC; adjusted OR = 1.079, 95%CI = 0.774–1.505 for GC + CC). These findings indicate that rs2735383G > C polymorphism in NBS1 may play a crucial role in the development of laryngeal carcinoma. The online version of this article (10.1186/s12885-018-4078-2) contains supplementary material, which is available to authorized users.
登录
查看更多内容
影响因子：
3.8
作者：
Desjardins S;Beauparlant JC;Labrie Y;Ouellette G;Durocher F;INHERIT BRCAs
通讯作者：
INHERIT BRCAs
影响因子：
2
作者：
Sobti, R. C.;Shekari, M.;Huria, A.
通讯作者：
Huria, A.
影响因子：
6.4
作者：
van Dijk, Boukje A. C.;Karim-Kos, Henrike E.;de Vries, Esther
通讯作者：
de Vries, Esther
影响因子：
--
作者：
Xu, Jia-Li;Hu, Ling-Min;Shu, Yong-Qian
通讯作者：
Shu, Yong-Qian
影响因子：
30.8
作者：
Khanna, KK;Jackson, SP
通讯作者：
Jackson, SP