Genome-wide association study of INDELs identified four novel susceptibility loci associated with lung cancer risk.

Document Type

Article

Publication Date

5-15-2020

Publication Title

International journal of cancer. Journal international du cancer

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

Clinical Institute

Cancer

Department

Oncology

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