Risk-association of five SNPs in TOX3/LOC643714 with breast cancer in southern China.
Risk-association of five SNPs in TOX3/LOC643714 with breast cancer in southern China.
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TOX3/LOC643714 中的 5 个 SNP 与中国南方乳腺癌的风险关联
DOI：
10.3390/ijms15022130
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发表时间：
2014-01-29
影响因子：
5.6
通讯作者：
Yang X
中科院分区：
文献类型：
--
作者：
He X;Yao G;Li F;Li M;Yang X
低风险遗传变异赋予乳腺癌风险的具体机制目前尚不清楚，关于TOX 3/LOC 643714中单核苷酸多态性（SNP）作为乳腺癌易感性位点的作用的证据相互矛盾。使用中国人群对该基因座的研究可能表明最初在欧洲人群中发现的结果是否可推广到其他人群，并可能为遗传变异在乳腺癌病因学中的作用提供新的见解。本研究选取623例中国女性乳腺癌患者和620例正常对照，研究TOX 3/LOC 643714基因5个SNP（rs 8051542、rs 12443621、rs3803662、rs 4784227和rs3112612）在乳腺癌发病中的作用，并进行连锁不平衡（LD）分析。此外，我们评估了这些常见的SNP如何影响特定类型乳腺癌的风险，如雌激素受体（ER）状态，孕激素受体（PR）状态和人表皮生长因子受体2（HER 2）状态所定义的。观察到rs 4784227和rs 8051542与乳腺癌风险显著相关，每个T等位基因的比值比（OR）分别为1.31（95%置信区间（CI），1.10-1.57）和1.26（95% CI，1.02-1.56）。T-rs 8051542等位基因与ER阳性和HER 2阴性携带者显著相关。rs 12443621、rs3803662和rs3112612多态性与乳腺癌风险之间无显著相关性。我们的研究结果支持了这一假设，即一个共同的易感基因座的适用性必须在遗传不同的人群中得到证实，这可能共同解释了乳腺癌遗传病因的一个可观的部分。
The specific mechanism by which low-risk genetic variants confer breast cancer risk is currently unclear, with contradictory evidence on the role of single nucleotide polymorphisms (SNPs) in TOX3/LOC643714 as a breast cancer susceptibility locus. Investigations of this locus using a Chinese population may indicate whether the findings initially identified in a European population are generalizable to other populations, and may provide new insight into the role of genetic variants in the etiology of breast cancer. In this case-control study, 623 Chinese female breast cancer patients and 620 cancer-free controls were recruited to investigate the role of five SNPs in TOX3/LOC643714 (rs8051542, rs12443621, rs3803662, rs4784227, and rs3112612); Linkage disequilibrium (LD) pattern analysis was performed. Additionally, we evaluated how these common SNPs influence the risk of specific types of breast cancer, as defined by estrogen receptor (ER) status, progesterone receptor (PR) status and human epidermal growth factor receptor 2 (HER2) status. Significant associations with breast cancer risk were observed for rs4784227 and rs8051542 with odds ratios (OR) of 1.31 ((95% confidence intervals (CI), 1.10–1.57)) and 1.26 (95% CI, 1.02–1.56), respectively, per T allele. The T-rs8051542 allele was significantly associated with ER-positive and HER2-negative carriers. No significant association existed between rs12443621, rs3803662, and rs3112612 polymorphisms and risk of breast cancer. Our results support the hypothesis that the applicability of a common susceptibility locus must be confirmed among genetically different populations, which may together explain an appreciable fraction of the genetic etiology of breast cancer.
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DOI：
10.1158/1055-9965.epi-10-0054
发表时间：
2010-09
期刊：
Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology
影响因子：
--
作者：
Long J;Shu XO;Cai Q;Gao YT;Zheng Y;Li G;Li C;Gu K;Wen W;Xiang YB;Lu W;Zheng W
通讯作者：
Zheng W
影响因子：
4.5
作者：
Long J;Cai Q;Shu XO;Qu S;Li C;Zheng Y;Gu K;Wang W;Xiang YB;Cheng J;Chen K;Zhang L;Zheng H;Shen CY;Huang CS;Hou MF;Shen H;Hu Z;Wang F;Deming SL;Kelley MC;Shrubsole MJ;Khoo US;Chan KY;Chan SY;Haiman CA;Henderson BE;Le Marchand L;Iwasaki M;Kasuga Y;Tsugane S;Matsuo K;Tajima K;Iwata H;Huang B;Shi J;Li G;Wen W;Gao YT;Lu W;Zheng W
通讯作者：
Zheng W
影响因子：
5.8
作者：
Sole, Xavier;Guino, Elisabet;Moreno, Vitor
通讯作者：
Moreno, Vitor
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
影响因子：
3.8
作者：
Liang, Jie;Chen, Peizhan;Shen, Hongbing
通讯作者：
Shen, Hongbing
DOI：
10.1073/pnas.0805555106
发表时间：
2009-02-24
影响因子：
11.1
作者：
Yuan, Shauna H.;Qiu, Zilong;Ghosh, Anirvan
通讯作者：
Ghosh, Anirvan