PMID- 27525837 OWN - NLM STAT- MEDLINE DCOM- 20170208 LR - 20210816 IS - 1676-5680 (Electronic) IS - 1676-5680 (Linking) VI - 15 IP - 3 DP - 2016 Jul 15 TI - Validation of associations between ESR1 variants and breast cancer risk in Chinese cohorts. LID - 10.4238/gmr.15036683 [doi] AB - Estrogen receptor-a (ER) protein plays a key role in breast carcinogenesis, and common genetic variants in the corresponding gene locus have been associated with breast cancer risk in different populations. Here, we analyzed estrogen receptor 1 (ESR1) associations in two hospital-based studies of patients from the south of China. Three single-nucleotide polymorphisms (SNPs; rs3757318, rs2046210, and rs3734805) in ESR1 were selected from previous genome-wide association study results and were genotyped using the Sequenom MassARRAY(R) iPLEX System in 845 breast cancer patients and 882 healthy controls. Association analysis based on unconditional logistic regression was carried out to determine the odds ratio (OR) and 95% confidence interval (95%CI) for each SNP. Stratified analyses according to the status of ER and progesterone receptor (PR) were also performed. Of the three SNPs, rs3757318 did not pass the Hardy-Weinberg equilibrium test and was excluded from the subsequent analysis. The other two SNPs (rs2046210 and rs3734805) were strongly associated with susceptibility to breast cancer. Allele T of rs2046210 and allele C of rs3734805 were risk alleles and the adjusted ORs were 1.348 (95%CI = 1.172-1.550, P = 0.0001) and 1.319 (95%CI = 1.144-1.522, P = 0.0001), respectively. Furthermore, the risk allele of rs2046210 gave negative results for ER and PR expression in an immunohistochemical test, with ORs of 0.602 (95%CI = 0.384-0.944, P = 0.027) and 0.532 (95%CI = 0.338-0.837, P = 0.006), respectively. Our study further supports associations between rs2046210 and rs3734805 and breast cancer risk in Chinese women. FAU - Li, X AU - Li X AD - Clinical Laboratory of Nanfang Hospital, Southern Medical University, Guangzhou, China. FAU - Yao, G Y AU - Yao GY AD - Breast Cancer Center, Nanfang Hospital, Southern Medical University, Guangzhou, China. FAU - Li, F X AU - Li FX AD - School of Biotechnology, Southern Medical University, Guangzhou, China. FAU - Qiu, Y R AU - Qiu YR AD - Clinical Laboratory of Nanfang Hospital, Southern Medical University, Guangzhou, China. FAU - Yang, X X AU - Yang XX AD - School of Biotechnology, Southern Medical University, Guangzhou, China yxxzb@sohu.com. LA - eng PT - Journal Article DEP - 20160715 PL - Brazil TA - Genet Mol Res JT - Genetics and molecular research : GMR JID - 101169387 RN - 0 (ESR1 protein, human) RN - 0 (Estrogen Receptor alpha) SB - IM MH - Adult MH - Aged MH - Breast Neoplasms/*genetics MH - Case-Control Studies MH - Estrogen Receptor alpha/*genetics MH - Female MH - Gene Frequency MH - Humans MH - Middle Aged MH - *Polymorphism, Single Nucleotide COIS- The authors declare no conflict of interest. EDAT- 2016/08/16 06:00 MHDA- 2017/02/09 06:00 CRDT- 2016/08/16 06:00 PHST- 2016/08/16 06:00 [entrez] PHST- 2016/08/16 06:00 [pubmed] PHST- 2017/02/09 06:00 [medline] AID - gmr6683 [pii] AID - 10.4238/gmr.15036683 [doi] PST - epublish SO - Genet Mol Res. 2016 Jul 15;15(3). doi: 10.4238/gmr.15036683.