Association of Long Non-Coding RNAs (lncRNAs) ANRIL and MALAT1 Polymorphism with Cervical Cancer

Pharmgenomics Pers Med. 2022 Apr 21:15:359-375. doi: 10.2147/PGPM.S358453. eCollection 2022.

Abstract

Background: Long non-coding RNAs (lncRNAs) and their polymorphisms play crucial roles in the development of different cancers.

Methods: Eight single-nucleotide polymorphisms (SNPs) in ANRIL and MALAT1 (rs1333045, rs4977574, rs1333048, and rs10757278 in ANRIL and rs11227209, rs619586, rs664589, and rs3200401 in MALAT1) were enrolled and genotyped in a total of 1248 samples, including 587 patients with cervical cancer (CC) and 661 healthy individuals using in TaqMan assay. The association of these SNPs with CC was then evaluated.

Results: Our results showed that the allele and genotype frequencies of rs3200401 in MALAT1 were significantly different between the control and CC groups after Bonferroni correction (P = 0.001 and P = 0.004, respectively), indicating that the C allele is a protective factor against CC (OR = 0.70; 95% CI = 0.57-0.87). In addition, the allele and genotype frequencies of rs4977574 in ANRIL were significantly different between the control and CC groups after Bonferroni correction (P = 0.004 and P = 0.014, respectively), and the A allele might be a protective factor for CC (OR = 0.80; 95% CI = 0.68-0.93). For subgroup analysis, the alleles of rs3200401 in MALAT1 showed significant differences between the control and adenocarcinoma (AC) and control and squamous cell carcinoma (SCC) groups (P = 0.005 and P = 0.004, respectively). The rs3200401C allele could be a protective factor for AC and SCC development (OR = 0.57; 95% CI = 0.38-0.85; OR = 0.72; 95% CI = 0.58-0.90). Moreover, the rs3200401C allele could be a protective factor for cervical cancer stage I development (OR = 0.67; 95% CI = 0.53-0.86).

Conclusion: Our results indicate that rs3200401 in MALAT1 and rs4977574 in ANRIL could play key roles in the CC development.

Keywords: association study; cervical cancer; long non-coding RNAs; single-nucleotide polymorphisms.

Grants and funding

This work was supported by grant from the CAMS Innovation Fund for Medical Sciences (CIFMS) (2021-I2M-2-004), National Science Foundation of China (82103190); PUMC Youth Fund (3332019111); Yunnan Province Clinical Research Center for Gynecological and Obstetric Disease (2022YJZX-FC04); Applied Basic Research Projects of Yunnan province (202101AS070205, 202101AU070191); Special Funds for High-level Healthy Talents of Yunnan Province (L-201615, H-2018014 and D-2018037). The funders had no role in study design, data collection and analysis, decision to publish or preparation of the manuscript.