The precision relationships between eight GWAS-identified genetic variants and breast cancer in a Chinese population

Abstract

Some of the new breast cancer susceptibility loci discovered in recent Genome-wide association studies (GWASs) have not been confirmed in Chinese populations. To determine whether eight novel Single-Nucleotide Polymorphisms (SNPs) have associations with breast cancer risk in women from southeast China, we conducted a case-control study of 1,156 breast cancer patients and 1,256 healthy controls. We first validated that the SNPs rs12922061, rs2290203, and rs2981578 were associated with overall breast cancer risk in southeast Chinese women, with the per-allele OR of 1.209 (95%CI: 1.064-1.372), 1.176 (95%CI: 1.048-1.320), and 0.852 (95%CI: 0.759-0.956), respectively. Rs12922061 and rs2290203 even passed the threshold for Bonferroni correction (P value: 0.00625). In stratified analysis, we found another three SNPs were significantly associated within different subgroups. However, after Bonferroni correction (P value: 0.000446), there were no statistically significant was observed. In gene-environment interaction analysis, we observed gene-environment interactions played a potential role of in the risk of breast cancer. These findings provide new insight into the associations between the genetic susceptibility and fine classifications of breast cancer. Based on these results, we encourage further large series studies and functional research to confirm these finding.

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

“…Many recent studies have established that genetic factor also had a vital role in progression of breast cancer (Bray et al 2013;Sehrawat et al 2011;Ruiz-Narvaez et al 2013;Han et al 2011), and there were 27% of the breast cancer risk influenced by genetic variants (Lichtenstein et al 2000). In addition, a number of genes including BRCA1, BRCA2, PTEN, TP53, CYP17 and other different genes have demonstrated that their polymorphisms were associated with risk of breast cancer (Nelson et al 2012;Liao et al 2018;Walsh and King 2007;Han et al 2016a;Wang et al 2016;Lilyquist et al 2018;He et al 2014;Chen et al 2016b;Yang et al 2018).…”

Polymorphisms of long non-coding RNA HOTAIR with breast cancer susceptibility and clinical outcomes for a southeast Chinese Han population

“…Epidemiology studies have demonstrated that age, obesity, menstrual status, positive family history and previous benign breast disease are correlated with the development of breast cancer [ 5 – 10 ]. Whereas accumulative evidences have revealed that, some genetic variants such as single nucleotide polymorphisms (SNPs) in tumor suppressor genes or oncogenes, could also play a critical role in the genetic susceptibility to breast cancer [ 11 – 17 ]. Although a great proportion of publications have focused on the cancer-related polymorphisms that are located in protein-coding genes, several SNPs located in chromosomal regions which do not encode genes are also indicated to contribute to the risk of different cancers.…”

Polymorphisms in the TOX3/LOC643714 and risk of breast cancer in south China

“…We confirmed the previous findings of the GWAS from Japan and China, showing that there was an association between BC risk and a locus in the LOC643714 region. 17,19 In our study, we found a significant difference of rs12922061 genotype distribution in postmenopausal and premenopausal patients under the dominant model (OR=3.158; 95% CI 1.410, 7.073, statistical power=82%), and the over-dominant model (OR= 2.629; 95% CI 1.170, 5.907; statistical power=76%).…”