Evaluating the Association of Eight Polymorphisms with Cancer Susceptibility in a Han Chinese Population.
Evaluating the Association of Eight Polymorphisms with Cancer Susceptibility in a Han Chinese Population.
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评估汉族人群中八种多态性与癌症易感性的关联。
DOI：
10.1371/journal.pone.0132797
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发表时间：
2015
期刊：
影响因子：
3.7
通讯作者：
Yang W
中科院分区：
文献类型：
--
作者：
Dong Y;Chen J;Chen Z;Tian C;Lu H;Ruan J;Yang W
特定类型癌症的易感基因的鉴定可以为癌症综合征的完整表征提供必要的信息。全基因组关联研究（GWAS）报告了 8 个单核苷酸多态性（SNP），即 rs465498、rs17728461、rs4488809、rs753955、rs13361707、rs9841504、rs2274223 和 rs13042395，它们与中国北方或南方汉族人群肺癌（LC）、胃癌（GC）或食管癌（EC）的易感性。然而，来自不同地理区域的中国汉族可能有不同的遗传背景。本研究旨在评估上述 8 个 SNP 与中国西北汉族人群中三种癌症风险的遗传关联。共有186例无癌对照者和436例非小细胞肺癌（NSCLC）（159例）、非贲门GC（167例）或EC（110例）纳入本研究。使用卡方检验和多元逻辑回归分析来估计中国西北汉族人群中八个癌症相关 SNP 与三种癌症之间的关联。对逻辑回归结果进行混杂因素调整，并使用Benjamini和Hochberg错误发现率（FDR）方法调整多重假设检验。通过交叉分析对吸烟或饮酒状况进行关联分析。 8 个 SNP 之一 rs17728461 与 NSCLC 易感性相关（在杂合模型中，OR = 0.44，95% CI = 0.27–0.72，p = 0.001）。两个 SNP，rs753955 和 rs13042395，在不同的遗传模型中与非贲门 GC 的风险相关（p < 0.05）。没有 SNP 与 EC 相关。交叉分析显示，rs13042395 CT 基因型与吸烟或饮酒相结合，可进一步增加非贲门 GC 的风险（p < 0.05）。这些结果表明rs17728461可能与NSCLC的风险特异性相关。 rs753955和rs13042395与宁夏汉族人对非贲门GC的易感性特别相关。西北汉族人群的易感性相关多态性与北方汉族或南方汉族的易感性多态性不太一致。仍然需要通过功能评估和更大的人群来验证这些发现。
The identification of susceptibility genes for specific types of cancer can provide necessary information for the complete characterization of cancer syndromes. Eight single nucleotide polymorphisms (SNPs), rs465498, rs17728461, rs4488809, rs753955, rs13361707, rs9841504, rs2274223, and rs13042395, were reported by genome wide association studies (GWASs) to be closely related to the susceptibility of lung cancer (LC), gastric cancer (GC) or esophageal cancer (EC) in Han population from northern or southern China. However, Chinese Han people from different geographic areas may have different genetic backgrounds. This study aims to assess the genetic associations of the eight SNPs mentioned above with three cancers risk in a Han population from northwest China. A total of 186 cancer-free controls and 436 cases with non-small cell lung cancer (NSCLC) (159 cases), non-cardia GC (167 cases) or EC (110 cases) were enrolled in this study. Chi-square test and polytomous logistic regression analyses were used to estimate the association between eight cancer-related SNPs and three cancers in a Han Chinese population from northwest China. The logistic regression results were adjusted for confounding factors and Benjamini and Hochberg False Discovery Rate (FDR) method was used to adjust the multiple hypothesis tests. Association analyses by cigarette smoking or alcohol drinking status were analyzed by crossover analyses. One of the eight SNPs, rs17728461 was associated with NSCLC susceptibility (in a heterozygous model, OR = 0.44, 95% CI = 0.27–0.72, p = 0.001). Two SNPs, rs753955 and rs13042395, were associated with the risk of non-cardia GC in different genetic models (p < 0.05). No SNPs were associated with EC. The crossover analyses showed that the rs13042395 CT genotype, combined with cigarette smoking or alcohol drinking, could further increase the risk for non-cardia GC (p < 0.05). These results indicated that rs17728461 may be specifically associated with the risk of NSCLC. rs753955 and rs13042395 were specifically associated with susceptibility to non-cardia GC in Ningxia Han Chinese. Susceptibility-associated polymorphisms in the northwestern Han Chinese were not very consistent with those in the northern Han Chinese or southern Han Chinese. The validation of these findings with a functional evaluation and a larger population is still required.