Genetic variants in trinucleotide repeat-containing 9 (TNRC9) are associated with risk of estrogen receptor positive breast cancer in a Chinese population
Genetic variants in trinucleotide repeat-containing 9 (TNRC9) are associated with risk of estrogen receptor positive breast cancer in a Chinese population
复制标题
含三核苷酸重复序列 9 (TNRC9) 的遗传变异与中国人群患雌激素受体阳性乳腺癌的风险相关
DOI：
10.1007/s10549-010-0809-z
复制
发表时间：
2010-11-01
影响因子：
3.8
通讯作者：
Shen, Hongbing
中科院分区：
文献类型：
--
作者：
Liang, Jie;Chen, Peizhan;Shen, Hongbing
trucleotide repeat-containing 9 （TNRC9）是一种高迁移率的染色质相关蛋白，与乳腺癌骨转移有关。近年来，TNRC9的几个单核苷酸多态性（SNPs）被全基因组关联研究鉴定为新的乳腺癌易感位点，特别是在雌激素受体（ER）阳性肿瘤中。在目前的病例对照研究中，我们使用SNPstream 12-plex平台对中国人群中1,049名乳腺癌患者和1,073名无癌对照者的TNRC9基因的三个多态性（rs3803662C/T， rs12443621A/G和rs8051542C/T）进行了基因分型，以验证这些snp与该人群乳腺癌风险相关的假设。在整个数据集中，这三种多态性均未与乳腺癌风险显著相关（rs3803662、rs12443621的P = 0.151、0.644和0.737）。和rs8051542)。然而，与纯合子AA相比，rs12443621 AG/GG基因型与ER阳性乳腺癌的风险增加显著相关（OR = 1.38, 95% CI = 1.01-1.88）。此外，与野生型基因型（CC）相比，rs8051542 C/T变异基因型（CT/TT）的风险也显著增加（校正OR = 1.26, 95% CI = 0.99-1.60）。有趣的是，在病例分析中发现rs12443621A/G和ER状态对乳腺癌风险有显著的相互作用（相互作用P = 0.004）。这些发现表明，TNRC9的遗传变异可能与雌激素受体阳性乳腺癌的发展有关。
Trinucleotide repeat-containing 9 (TNRC9), a high mobility group chromatin-associated protein, has been implicated in breast cancer metastasis to the bone. Recently, several single nucleotide polymorphisms (SNPs) of TNRC9 were identified as novel breast cancer susceptibility loci by whole genome association studies, especially in estrogen receptor (ER) positive tumors. In the present case-control study of 1,049 breast cancer patients and 1,073 cancer-free controls in a Chinese population, we genotyped three polymorphisms (rs3803662C/T, rs12443621A/G, and rs8051542C/T) of the TNRC9 gene using the SNPstream 12-plex platform to test the hypothesis that these SNPs are associated with breast cancer risk in this population. None of the three polymorphisms was significantly associated with breast cancer risk in the whole data set (P = 0.151, 0.644, and 0.737 for rs3803662, rs12443621. and rs8051542, respectively). However, rs12443621 AG/GG genotypes were significantly associated with increased risk of ER positive breast cancer (OR = 1.38, 95% CI = 1.01-1.88), compared with homozygote AA. In addition, a borderline significantly increased risk was also observed for the variant genotypes (CT/TT) of rs8051542 C/T compared with the wild-type genotype (CC) (adjusted OR = 1.26, 95% CI = 0.99-1.60). Interestingly, a significant interaction was detected between rs12443621A/G and ER status on breast cancer risk in a case-only analysis (P for interaction = 0.004). These findings suggest that genetic variants of TNRC9 may contribute to the development of ER positive breast cancer.