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Updated: Jun 4, 2026

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
Noncoding SNP rs17728461 modulates lung cancer progression via interchromosomal regulation of RAB27A expression
Yan Jin1, Xiaoling Tian1,2, Wenxu Liu1
1Zhejiang Key Laboratory of Medical Epigenetics, Jiande Hospital, Department of Cell Biology, School of Basic Medical Sciences, Hangzhou Normal University, Hangzhou, China.
Abstract:
Genome-wide association studies (GWASs) have revealed the lung cancer susceptibility-associated non-coding SNP rs17728461 C/G. In this study, we demonstrated that rs17728461 is also associated with lung cancer outcome. The risk G allele increases the proliferative index and motility of cancer cells and promotes cancer metastasis in vivo in a xenograft mouse model. Mechanistically, rs17728461-G establishes a physical interchromosomal interaction between the rs17728461-bearing DNA fragment and the RAB27A gene locus and thereby increases RAB27A expression and promotes subsequent exosome secretion. eQTL analysis and immunostaining revealed an association between rs17728461-G and increased RAB27A expression in human lung cancers. These findings reveal a noncoding SNP-mediated interchromosomal regulatory mechanism underlying lung cancer progression.
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