Systemic lupus erythematosus (SLE) is a complex autoimmune disorder involving genetic, epigenetic and environmental factors and has higher incidence in women. In this study, we explored the association of estrogen receptor 1 (ESR1) rs2234693 (PvuII) and rs9340799 (XbaI) polymorphisms with susceptibility to SLE. PCR-RFLP and ELISA were used for genetic analysis and determination of specific auto...

Aims: To investigate the association of estrogen receptor alpha (ESR1) gene polymorphisms and its gene-gene interactions with knee osteoarthritis (OA) susceptibility. Methods: Generalized multifactor dimensionality reduction (GMDR) was used to screen the best interaction combination among SNPs. Logistic regression was performed to investigate association between 3 SNPs within ESR1 gene and knee...

Estrogen receptor alpha has a central role in human fertility by regulating estrogen action in all human reproductive tissues. Leukemia inhibitory factor (LIF) expression, a cytokine critical for blastocyst implantation, is mediated by estrogen signaling, so we hypothesized that ESR1 gene polymorphisms might be candidate risk markers for endometriosis-related infertility and in vitro fertilizat...

OBJECTIVE The association between a common variant of the ESR1 gene rs2234693 and rs9340799 polymorphisms with coronary heart disease (CHD) have been reported, but the available data on this relationship are inconsistent. A meta-analysis was performed to quantitative analysis the association of ESR1 gene polymorphisms and CHD risk using previous case-control studies in Chinese Han population. ...

BACKGROUND Women with breast cancer treated with aromatase inhibitors (AIs) may experience musculoskeletal symptoms that lead to discontinuation of effective therapy. The purpose of the current study is to evaluate the clinical and genetic predictors for AIs-related musculoskeletal adverse events(MS-AEs). METHODOLOGY AND PRINCIPAL FINDINGS We recruited 436 postmenopausal Chinese Han women rec...

We performed a meta analysis to access the relationship of estrogen receptor of alpha (ESRα) polymorphisms with the risk of prostate cancer (PC). Twenty-four case-control studies (including 5477 cases and 10708 controls) were recruited for meta-analysis. The strongest association with the risk of PC was observed between ESRα rs9340799 and rs2234693 under the two genotypic models of allele and c...

The purpose of this study was to clarify the roles of polymorphisms from the classical nuclear estrogen receptor ESR1 and from the recently described estrogen receptor coupled to G proteins GPR30 [1], in breast cancer susceptibility and prognosis. Three single nucleotide polymorphisms (SNPs), rs2234693 and rs9340799 from ESR1 and rs3808350 from GPR30 were genotyped in 260 breast cancer patients...

Studies in adolescents and adults have demonstrated that polymorphisms in putative psychiatric risk genes are associated with differences in brain structure, but cannot address when in development these relationships arise. To determine if common genetic variants in disrupted-in-schizophrenia-1 (DISC1; rs821616 and rs6675281), catechol-O-methyltransferase (COMT; rs4680), neuregulin 1 (NRG1; rs3...

We evaluated six estrogen receptor 1 (ESR1) polymorphisms for association with ten plasma lipid and apolipoprotein traits in 1,847 individuals (941 females and 906 males) in the multi-generation Rochester Family Heart Study using a generalized estimating equation approach. Apolipoprotein A-I (apoA-I), apoA-II, and HDL-cholesterol (HDL-C) were associated with exon 4 rs1801132 (Pro325Pro) genotyp...

AIMS One previous study among women with established coronary heart disease found a gene-treatment interaction between the oestrogen receptor gene (ESR1) and hormone replacement in their association with high density lipoprotein cholesterol (HDL-c). We aimed to replicate these findings in a general population sample. METHODS AND RESULTS Cross-sectional associations were assessed in a study of...