Polymorphisms in ESR1 and FLJ43663 are associated with breast cancer risk in the Han population

被引：14

作者：

Xia, Peng ^{[1
,2
,3
]}

Jin, Tianbo ^{[1
,2
,4
]}

Geng, Tingting ^{[2
]}

Sun, Ting ^{[2
]}

Li, Xiaolan ^{[1
,2
]}

Dang, Chengxue ^{[3
]}

Kang, Longli ^{[4
]}

Chen, Chao ^{[1
,2
]}

Sun, Jiying ^{[5
]}

机构：

[1] NW Univ Xian, Sch Life Sci, Xian 710069, Peoples R China

[2] Natl Engn Res Ctr Miniaturized Detect Syst, Xian 710069, Peoples R China

[3] Xi An Jiao Tong Univ, Affiliated Hosp 1, Dept Oncol, Xian 710061, Peoples R China

[4] Tibet Univ Nationalities, Sch Med, Key Lab High Altitude Environm & Genes Related Di, Xianyang 712082, Peoples R China

[5] Xi An Jiao Tong Univ, Affiliated Hosp 1, Dept Outpatient, Xian 710061, Peoples R China

来源：

TUMOR BIOLOGY | 2014年 / 35卷 / 03期

基金：

中国博士后科学基金; 中国国家自然科学基金;

关键词：

Single nucleotide polymorphism (SNP); Breast cancer; ESR1; FLJ43663; Case-control studies; GENOME-WIDE ASSOCIATION; SUSCEPTIBILITY LOCUS;

D O I：

10.1007/s13277-013-1289-7

中图分类号：

R73 [肿瘤学];

学科分类号：

100214 ;

摘要：

Breast cancer is a heterogeneous disease which is influenced by genetic, environmental, and lifestyle factors. Genetic susceptibility is likely to be due to variants conferring more moderate risks. To identify susceptibility alleles, we conducted a case-control association study in 185 breast cancer cases and 199 controls in the Han population. We genotyped 14 tagging single nucleotide polymorphisms previously implicated in breast cancer using Sequenom MassARRAY SNP genotyping method and identified rs3734805 in the ESR1 gene and rs2048672 in the FLJ43663 gene were associated with breast cancer risk. Allele "C" of rs3734805 was associated with increased breast cancer progression by chi (2) test and additive model analysis (OR = 1.36; 95 % CI, 1.01-1.82; p = 0.042). Using recessive model analysis, we found that genotype "GG" of rs2048672 was the protective genotype during breast cancer progression (OR = 0.55; 95 % CI, 0.32-0.95; p = 0.029). Our results provide additional insights into the opposing roles of the ESR1 and FLJ43663 genes in breast cancer onset and progression.

引用

页码：2187 / 2190

页数：4

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