Single-nucleotide polymorphisms (SNPs) in lncRNAs could be biomarkers for susceptibility to colorectal cancer (CRC), but the association of polymorphisms and CRC susceptibility is yet to be studied. Five tagSNPs covering the gene were detected through Kompetitive Allele-Specific PCR among 436 CRC patients and 510 controls. An expression quantitative trait locus (eQTL) bioinformatic analysis was then performed. In the present study, rs2632159 polymorphism increased CRC risk by 1.37-fold and 2.19-fold in the dominant and recessive models, respectively (=0.040 and 0.041). When the CRC cases were divided into colon cancer and rectal cancer, we found that this polymorphism affected colon cancer risk under the dominant model (=0.022, OR = 1.51) and affected rectal cancer susceptibility under the recessive model (=0.009, OR = 3.03). A more pronounced effect was observed in the male subgroup in that rs2632159 SNP increased rectal cancer risk by 3.97-fold (=0.017). When rs2632159 was present, epistatic effects were observed with rs1902432 and rs785005 (=0.011 and 0.008, respectively). eQTL analysis showed that rs2632159 could influence binding with the transcription factors EBF, LUN-1, and TCF12. rs2632159 SNP could be a biomarker for CRC risk. And the rs1902432 SNP might only have potential to be a biomarker for colon cancer risk.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6629943PMC
http://dx.doi.org/10.1042/BSR20190708DOI Listing

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