Associations of gene‑wide SNPs in SNAI1 and TWIST1 with breast cancer and ovarian cancer susceptibility among Chinese Han women.
Associations of gene‑wide SNPs in SNAI1 and TWIST1 with breast cancer and ovarian cancer susceptibility among Chinese Han women.
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SNAI1 和 TWIST1 中全基因 SNP 与中国汉族女性乳腺癌和卵巢癌易感性的关联。
DOI：
10.3892/or.2018.6725
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发表时间：
2018-09
期刊：
影响因子：
4.2
通讯作者：
Fang WG
中科院分区：
文献类型：
--
作者：
Wang YJ;Zheng LY;Wang ZF;Song R;Yang L;Mei F;Xie YT;Chen L;Liu DG;Li XH;Sun YL;Tian XX;Fang WG
大量的证据表明，乳腺癌（BC）和卵巢癌（OC）的遗传病因显示出一定程度的相似性。本研究旨在探讨SNAI 1和TWIST 1基因的单核苷酸多态性（SNPs）是否影响乳腺癌和卵巢癌的易感性。在1,161例BC病例、286例OC病例和1,273例无癌对照的中国汉族女性中，共对7个tag-SNPs（tSNPs）进行了直接基因分型。通过“计算机模拟”基因型插补对这2个基因中的28个变体进行基因分型。Logistic回归（LR）分析显示，SNAI 1 rs6125849、TWIST 1 rs 4721746和TWIST 1 rs 4721745是BC/OC的保护性基因变异。全基因SNPs的等位基因关联检验表明，SNAI 1 rs6125849、TWIST 1 rs 4721745和TWIST 1 rs 11973396的次要等位基因与BC/OC易感性密切相关。多变量LR显示，SNAI 1 rs6125849、TWIST 1 rs 4721745、rs 4721746和rs 11973396独立影响BC/OC易感性，并且携带所有四种保护基因型的女性风险最低。多因素降维分析进一步显示SNAI 1 rs6125849和TWIST 1 rs 4721745具有最强的协同交互作用。功能注释预测SNAI 1 rs6125849和TWIST 1 rs 4721745的次要等位基因分别改变了它们与转录因子E2 F6和TCF 11-MafG的结合亲和力。这些结果表明，在SNAI 1和TWIST 1的遗传变异，最有可能的SNAI 1 rs6125849和TWIST 1 rs 4721745，可以调节BC和OC的易感性。
Extensive evidence suggests that the genetic etiologies of breast cancer (BC) and ovarian cancer (OC) show a certain degree of similarity. This study aimed to find out whether the single nucleotide polymorphisms (SNPs) of genes SNAI1 and TWIST1 may affect BC and OC susceptibility. A total of 7 tagging‑SNPs (tSNPs) were directly genotyped in 1,161 BC cases, 286 OC cases and 1,273 cancer‑free controls among Chinese Han women. Twenty‑eight variants in these 2 genes were genotyped by 'in silico' genotype imputation. Logistic regression (LR) revealed that tSNPs SNAI1 rs6125849, TWIST1 rs4721746 and TWIST1 rs4721745 were protective genetic variants for BC/OC. Allelic association tests of gene‑wide SNPs demonstrated that the minor alleles of SNAI1 rs6125849, TWIST1 rs4721745 and TWIST1 rs11973396 were strongly associated with BC/OC susceptibility. Multivariate LR presented that SNAI1 rs6125849, TWIST1 rs4721745, rs4721746 and rs11973396 affected BC/OC susceptibility independently, and women harboring all four protective genoytpes had the lowest risk. Multifactor dimensionality reduction analysis further showed that SNAI1 rs6125849 and TWIST1 rs4721745 had the strongest synergistic interaction. Functional annotation predicted that the minor alleles of SNAI1 rs6125849 and TWIST1 rs4721745 altered their binding affinities with transcription factors E2F6 and TCF11‑MafG respectively. These results indicate that genetic variants in SNAI1 and TWIST1, most probably SNAI1 rs6125849 and TWIST1 rs4721745, may modulate BC and OC susceptibility.
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影响因子：
2.3
作者：
Jordan, S. J.;Cushing-Haugen, K. L.;Wicklund, K. G.;Doherty, J. A.;Rossing, M. A.
通讯作者：
Rossing, M. A.
DOI：
10.1158/1055-9965.epi-11-0062
发表时间：
2011-06
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：
Scollen S;Luccarini C;Baynes C;Driver K;Humphreys MK;Garcia-Closas M;Figueroa J;Lissowska J;Pharoah PD;Easton DF;Hesketh R;Metcalfe JC;Dunning AM
通讯作者：
Dunning AM
影响因子：
14.9
作者：
Lee, Phil Hyoun;Shatkay, Hagit
通讯作者：
Shatkay, Hagit
DOI：
10.1164/rccm.201307-1355oc
发表时间：
2014-01-15
影响因子：
24.7
作者：
Yang, Lei;Yang, Xiaorong;Lu, Jiachun
通讯作者：
Lu, Jiachun
DOI：
--
发表时间：
2008
期刊：
--
影响因子：
--
作者：
S. Westlake
通讯作者：
S. Westlake