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Associations of single nucleotide polymorphisms with mucinous colorectal cancer: genome-wide common variant and gene-based rare variant analyses

机译：单核苷酸多态性与粘液性结直肠癌的关联：全基因组通用变异和基于基因的罕见变异分析

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Background Colorectal cancer has significant impact on individuals and healthcare systems. Many genes have been identified to influence its pathogenesis. However, the genetic basis of mucinous tumor histology, an aggressive subtype of colorectal cancer, is currently not well-known. This study aimed to identify common and rare genetic variations that are associated with the mucinous tumor phenotype. Methods Genome-wide single nucleotide polymorphism (SNP) data was investigated in a colorectal cancer patient cohort ( n =?505). Association analyses were performed for 729,373 common SNPs and 275,645 rare SNPs. Common SNP association analysis was performed using univariable and multivariable logistic regression under different genetic models. Rare-variant association analysis was performed using a multi-marker test. Results No associations reached the traditional genome-wide significance. However, promising genetic associations were identified. The identified common SNPs significantly improved the discriminatory accuracy of the model for mucinous tumor phenotype. Specifically, the area under the receiver operating characteristic curve increased from 0.703 (95% CI: 0.634–0.773) to 0.916 (95% CI: 0.873–0.960) when considering the most significant SNPs. Additionally, the rare variant analysis identified a number of genetic regions that potentially contain causal rare variants associated with the mucinous tumor phenotype. Conclusions This is the first study applying both common and rare variant analyses to identify genetic associations with mucinous tumor phenotype using a genome-wide genotype data. Our results suggested novel associations with mucinous tumors. Once confirmed, these results will not only help us understand the biological basis of mucinous histology, but may also help develop targeted treatment options for mucinous tumors.
机译：背景大肠癌对个人和医疗系统具有重大影响。已经鉴定出许多基因来影响其发病机理。然而，粘液性肿瘤组织学的一种大胆的亚型粘液肿瘤组织学的遗传基础目前尚不为人所知。这项研究旨在确定与粘液性肿瘤表型相关的常见和罕见的遗传变异。方法在大肠癌患者队列（n = 505）中研究全基因组单核苷酸多态性（SNP）数据。对729,373个常见SNP和275,645个稀有SNP进行了关联分析。在不同遗传模型下，使用单变量和多变量logistic回归进行常见的SNP关联分析。使用多标记检验进行稀有变异关联分析。结果没有关联达到传统的全基因组意义。但是，确定了有前途的遗传关联。鉴定出的常见单核苷酸多态性显着提高了该模型对粘液性肿瘤表型的判别准确性。特别是，考虑到最重要的SNP时，接收器工作特性曲线下的面积从0.703（95％CI：0.634–0.773）增加到0.916（95％CI：0.873–0.960）。另外，稀有变异分析确定了许多可能包含与粘液性肿瘤表型相关的因果稀有变异的遗传区域。结论这是第一项应用常见和罕见变体分析来利用全基因组基因型数据鉴定与粘液性肿瘤表型相关的遗传学的研究。我们的结果表明与黏液性肿瘤的新型关联。一旦得到证实，这些结果将不仅有助于我们了解粘液组织学的生物学基础，而且还可以帮助开发针对粘液肿瘤的靶向治疗方案。

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