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1.	Dai, Juncheng, et al. (author) Genome-wide association study of INDELs identified four novel susceptibility loci associated with lung cancer risk 2020 In: International Journal of Cancer. - : John Wiley & Sons. - 0020-7136 .- 1097-0215. ; 146:10, s. 2855-2864 Journal article (peer-reviewed)abstract Genome-wide association studies (GWAS) have identified 45 susceptibility loci associated with lung ncer. Only less than SNPs, small insertions and deletions (INDELs) are the second most abundant netic polymorphisms in the human genome. INDELs are highly associated with multiple human seases, including lung cancer. However, limited studies with large-scale samples have been available to stematically evaluate the effects of INDELs on lung cancer risk. Here, we performed a large-scale meta- alysis to evaluate INDELs and their risk for lung cancer in 23,202 cases and 19,048 controls. Functional notations were performed to further explore the potential function of lung cancer risk INDELs. nditional analysis was used to clarify the relationship between INDELs and SNPs. Four new risk loci re identified in genome-wide INDEL analysis (1p13.2: rs5777156, Insertion, OR = 0.92, p = 9.10 x 10(- ; 4q28.2: rs58404727, Deletion, OR = 1.19, p = 5.25 x 10(-7); 12p13.31: rs71450133, Deletion, OR = 09, p = 8.83 x 10(-7); and 14q22.3: rs34057993, Deletion, OR = 0.90, p = 7.64 x 10(-8)). The eQTL alysis and functional annotation suggested that INDELs might affect lung cancer susceptibility by gulating the expression of target genes. After conducting conditional analysis on potential causal SNPs, e INDELs in the new loci were still nominally significant. Our findings indicate that INDELs could be tentially functional genetic variants for lung cancer risk. Further functional experiments are needed to tter understand INDEL mechanisms in carcinogenesis.

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Type of publication: journal article (1)

Type of content: peer-reviewed (1)

Author/Editor: Melander, Olle (1); Albanes, Demetrius (1); Grankvist, Kjell (1); Johansson, Mattias (1); Bojesen, Stig E. (1); Le Marchand, Loïc (1); show more...; Wichmann, H. Erich (1); Brennan, Paul (1); Johansson, Mikael (1); Kiemeney, Lambertus ... (1); Shete, Sanjay (1); Amos, Christopher I. (1); Risch, Angela (1); Aldrich, Melinda C (1); Landi, Maria Teresa (1); Andrew, Angeline (1); Arnold, Susanne (1); Brunnstrom, Hans (1); Caporaso, Neil (1); Chen, Chu (1); Christiani, David C. (1); Field, John K. (1); Goodman, Gary (1); Lazarus, Philip (1); Liu, Geoffrey (1); Rennert, Gadi (1); Schabath, Matthew B. (1); Tardon, Adonina (1); Woll, Penella (1); Zienolddiny, Shan (1); Hung, Rayjean J. (1); Dai, Juncheng (1); Shen, Hongbing (1); Lam, Stephan (1); Huang, Mingtao (1); Fan, Jingyi (1); Bickeboller, Heike (1); Stevens, Victoria (1); Hu, Zhibin (1); show less...

University: Umeå University (1); Lund University (1)

Language: English (1)

Research subject (UKÄ/SCB): Medical and Health Sciences (1)

Year: 2020 (1)

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