Association of multiple genetic variants with breast cancer susceptibility in the Han Chinese population

Abstract

We selected 13 tag single nucleotide polymorphisms (tSNPs) to investigate whether they were associated with breast cancer risk in the Chinese Han population. Upon statistical analyses of clinical data from 551 patients and 577 controls, we found that six of the 13 SNPs were associated with breast cancer; namely, rs4973768(Odds ratio (OR) = 1.30, 95% confidence interval (CI) =1.01-1.67), rs981782(OR =1.30, 95% CI=1.01-1.66), rs1432679(OR =0.84, 95% CI=0.70-0.99), rs10759243(OR=1.30, 95%CI=1.09-1.55), rs10822013(OR =1.18, 95% CI=1.00-1.39) and rs704010(OR =1.63, 95% CI=1.04-2.56). When stratified based on breast cancer subtype, our analyses revealed that three SNPs (rs981782, rs10759243 and rs704010) correlated with ER+ breast cancer, while another three (rs4973768, rs1432679 and rs10822013) correlated with ER- breast cancer. We obtained similar results while investigating the correlation of SNPs with PR status or clinical stage. Our results suggest that associations identified between SNPs and breast cancer through genome-wide association studies (GWAS) may not always be generalizable across races.

Association of lncRNA H19 Gene Polymorphisms with the Occurrence of Hepatocellular Carcinoma

“…However, numerous investigations point to the contradictory effects of H19 on tumor development, progression, and treatment [16,17,18,19,20], and indicate the complexity of H19 functionality. In addition, polymorphisms within the H19 gene in many ethnic populations have been related to the susceptibility to various tumor types, including bladder [21,22], gastric [23], colorectal [24], lung [25], breast [26,27,28], ovarian [29,30], liver [31], bone [32], and oral cancer [33]. Nevertheless, these results provide no consensus regarding the promotive or protective effect of individual H19 SNPs on cancer risk.…”

Associations between H19 polymorphisms and neuroblastoma risk in Chinese children

“…The association between these SNPs and cancer risk has been studied, while evidence of rs3024270 GG genotype and cancer risk are relatively limited. A study by Li et al [20] reported an increased risk of colorectal cancer in a Chinese population with the rs3024270 GG genotype. A meta-analysis conducted by Lv et al [21] investigated the association between long noncoding RNA polymorphisms and cancer risk, and the rs3024270 C>G polymorphism was reported to be correlated with an overall cancer risk.…”

“…However, another study found a decreased risk of invasive bladder cancer in patients with the rs3024270 CC genotype in the Chinese population [41]. Besides the rs3024270 C>G polymorphism, a series of studies reported the role of the rs2839698 G>A polymorphism in platinum-based chemotherapy response in lung cancer [42], colorectal cancer [20], gastric cancer [24] and rheumatoid arthritis [22]. The rs217727 G>A polymorphism was also reported to be associated with a risk of oral squamous cell carcinoma [19], osteosarcoma [43], bladder cancer [44], cervical cancer of the squamous carcinomas subtype [20], and breast cancer [27].…”

“…SNPs studied in our research are all located in the H19 gene and were reported to have an impact on the folding structure of H19 [20], which may affect the expression or functions of H19. The role of H19 in cancers has been widely studied.…”

“…Recently, a GWAS revealed that SNPs in H19 are associated with cancer susceptibility [18], and the correlation of H19 polymorphisms and cancers were confirmed in subsequent studies [19–21]. A study on colorectal cancer reported that the SNPs rs2839698 G>A, rs3024270 C>G, and rs217727 G>A, which are located at exon 1, exon 5, and intron region of the H19 gene, respectively, have effects on the secondary structure of H19 [20], and these SNPs were found to be associated with an increased cancer risk in Chinese populations [20,22–27]. However, few studies have focused on neuroblastoma.…”