Genome-wide association study of INDELs identified four novel susceptibility loci associated with lung cancer risk.
Publication Title
International journal of cancer. Journal international du cancer
Document Type
Article
Publication Date
5-15-2020
Keywords
Genetic Predisposition to Disease; Genome-Wide Association Study; Humans; INDEL Mutation; Lung Neoplasms; genomics
Abstract
Genome-wide association studies (GWAS) have identified 45 susceptibility loci associated with lung cancer. Only less than SNPs, small insertions and deletions (INDELs) are the second most abundant genetic polymorphisms in the human genome. INDELs are highly associated with multiple human diseases, including lung cancer. However, limited studies with large-scale samples have been available to systematically evaluate the effects of INDELs on lung cancer risk. Here, we performed a large-scale meta-analysis to evaluate INDELs and their risk for lung cancer in 23,202 cases and 19,048 controls. Functional annotations were performed to further explore the potential function of lung cancer risk INDELs. Conditional analysis was used to clarify the relationship between INDELs and SNPs. Four new risk loci were identified in genome-wide INDEL analysis (1p13.2: rs5777156, Insertion, OR = 0.92, p = 9.10 × 10
Area of Special Interest
Cancer
Specialty/Research Institute
Oncology
