The association of CASC16 variants with breast Cancer risk in a northwest Chinese female population

Abstract

Purpose: Genetic variants play a critical role in the development of breast cancer. This investigation aimed to explore the association between CASC16 polymorphisms and breast cancer susceptibility. Methods: We conducted a case-control study of 681 patients and 680 healthy individuals to investigate the correlation of five SNPs with breast cancer in a Northwest Chinese female population. Odds ratios (OR) and 95% confidence intervals (CIs) were used to assess the association. Results: Our study found that rs4784227 and rs12922061 were significantly related to an increased susceptibility to breast cancer (OR 1.22, p = 0.022; OR 1.21, p = 0.026). While rs3803662 was a protective role in breast cancer risk (OR 0.69, p = 0.042). Stratified analyses indicated that rs4784227 and rs12922061 would increase breast cancer susceptibility at age > 50 years. Rs3803662 was a reduced factor of breast cancer risk by age ≤ 50 years. Rs4784227 was significantly increased risk of breast cancer in stage III/IV. The rs45544231 and rs3112612 had a protective effect on breast cancer with tumor size > 2 cm. Rs4784227 and rs12922061 could enhance breast cancer risk in lymph node metastasis positive individuals. CASC16 rs12922061 and rs4784227 polymorphisms correlated with an increased risk of breast cancer in BMI > 24 kg/m 2. Haplotype analyses revealed that G rs45544231 T rs12922061 A rs3112612 and G rs45544231 C rs12922061 A rs3112612 haplotypes decreased breast cancer risk. Conclusion: Our study revealed that CASC16 genetic variants were significantly related to breast cancer susceptibility, which might give scientific evidence for exploring the molecular mechanism of breast cancer.

Association between the CASC16 rs4784227 polymorphism and breast cancer risk and prognosis in a northeast Chinese Han population

“…However, the same findings of perineural invasion and histological grade were not found in other studies. In addition, Zuo et al (2020) and Sun et al (2020) found that there was a significant association between rs4784227 and lymph node metastasis status, but this conclusion was not reached in our study. We propose that this may be because the number of people who carried the TT genotype in our sample was small.…”

“…In our study, we found that the T allele was the minor allele of rs4784227 , and the distribution of alleles and genotypes of SNP rs4784227 ( C = 69.93%, T = 30.07%, CC =48.43%, CT = 43.00%, TT = 8.57%) was consistent with current research. The results indicated that those who carried the T allele had high BC susceptibility, which was in line with Zuo et al (2020) , Tajbakhsh et al (2019) and He et al (2014) . In our study, the best-fitting inheritance model of rs4784227 was the dominant model, and in this model, we found that the CC genotype of SNP rs4784227 provided a protective effect against BC, which was consistent with Zuo et al (2020) and Tajbakhsh et al (2019) .…”

“…The results indicated that those who carried the T allele had high BC susceptibility, which was in line with Zuo et al (2020) , Tajbakhsh et al (2019) and He et al (2014) . In our study, the best-fitting inheritance model of rs4784227 was the dominant model, and in this model, we found that the CC genotype of SNP rs4784227 provided a protective effect against BC, which was consistent with Zuo et al (2020) and Tajbakhsh et al (2019) . However, Sun et al (2020) did not find this association.…”

“…CASC16 is an RNA gene that is located at chromosome 16q12.1 and is affiliated with the lncRNA class. One study showed that the CASC16 gene had higher expression in breast cancer cells than in normal cells ( Han et al, 2016 ), and some loci of CASC16 have been demonstrated to be significantly associated with BC susceptibility ( Long et al, 2010 ; Zuo et al, 2020 ; Tajbakhsh et al, 2019 ; Lin et al, 2014 ). However, the association between this gene and other cancers has not yet been found.…”

“…However, whether the interaction between FOXA1 and CASC16 participates in the above functions and what will be caused by it are not clear. Current studies are limited to the relationship between this locus and BC susceptibility, and the functions of CASC16 are still unknown ( Zuo et al, 2020 ).…”