The oestrogen receptor   gene is linked and/or associated with age of menarche in different ethnic groups

Long, Jirong; Xu, Hong; Zhao, Liang; Liu, P. Y.; Shen, Hui; Liu, Y. J.; Xiong, Dong Hai; Xiao, Peng; Liu, Y. Z.; Dvornyk, Volodymyr; Li, J. L.; Recker, Robert R.; Deng, Hong−Wen

doi:10.1136/jmg.2004.028381

Cited by 44 publications

(35 citation statements)

References 31 publications

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“…An alternative explanation is that the two polymorphisms in intron 1 may be in linkage disequilibrium with causal synonymous polymorphisms elsewhere in the ERα or another gene. In this regard, it has been established that intron 1 polymorphisms are in linkage disequilibrium with the upstream TA and GT repeats polymorphism in the promoter of ESR1, which were associated with microsatellite instability [26]. Searching in FASTSNP SNP function prediction web, we found that rs9340799 (xbaI) is an intronic enhancer, representing a binding site for the helix-loop-helix transcription factor Th1/E47 (G allele) and rs2234693 (pvuII) serves as transcription binding sites for v-myb (C allele) and SRY (T allele).…”

Section: Discussionmentioning

confidence: 99%

Estrogen receptor alpha polymorphisms: correlation with clinicopathological parameters in breast cancer

Anghel¹,

Raica²,

Nariţa³

et al. 2010

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Polymorphisms in estrogen receptor alpha gene (ESR1) have been previously associated with breast cancer risk; however, the results were not fully consistent. Our purpose was to study interactions between common genotypes in ESR1, breast cancer risk and tumor phenotypes. 6 ESR1 single nucleotide polymorphisms (SNPs) were genotyped in 103 breast cancer patients and 90 controls using hybridization probes; the genotypes were correlated with known prognostic factors for breast cancer and 5 years-follow up data. To assess estrogen and progesterone receptors (ER, PR) and HER2/neu expressions, immunohistochemistry was performed. Our results showed that rs3798577 was significantly associated with the risk of breast cancer, the common allele C conferring susceptibility (p-trend=4x10 -5 ); rs3798577 was also correlated with PR expression (p=0.01), but not with ER expression; rs2228480 (p=0.047) and rs1801132 (p=0.02) were associated with the age at diagnosis; rs1801132 was correlated with hypercholesterolemia (p=0.003) and increased BMI (body mass index) (p=0.01); rs2234693 showed a low significant association (p=0.042) with the tumor grade; rs3798577 was correlated with disease-free survival (p=0.05), allele C conferring increased risk for relapses, but it reached not statistical significance after adjustments. In conclusions, we identified four genotypes significantly correlated with either the risk or some tumor characteristics, suggesting that the main selection criteria of the investigated SNPs (frequency and the position in modulating domains of the gene) are pertinent instruments for establish correlations between the gene structure and the tumor phenotype.

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Section: Discussionmentioning

confidence: 99%

Estrogen receptor alpha polymorphisms: correlation with clinicopathological parameters in breast cancer

Anghel¹,

Raica²,

Nariţa³

et al. 2010

neo

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“…38 Therefore, the ER-a gene has been considered as a candidate gene for the onset of menarche, which was substantiated in several studies. 39,40 Another possible pleiotropic gene is beta 3-AR gene. Mutations in beta 3-AR gene may result in a diminished lipolytic response in adipose tissue and lower resting metabolic rate.…”

Section: Discussionmentioning

confidence: 99%

Genetic and environmental correlations between obesity phenotypes and age at menarche

Wang

Zhao

et al. 2006

Int J Obes

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Objective: To assess the extent that the genetic and environmental factors contribute to the phenotypic correlations between obesity traits and age at menarche (AAM), and also to examine the influence of AAM on obesity in both pre-and postmenopausal women. Methods: Five hundred and twelve pedigrees with 2667 Caucasian female subjects from two to four generations were recruited. Fat mass and lean mass (both in kg) were measured by dual-energy X-ray absorptiometry scanner. Body mass index (BMI) (kg/m 2 ) was calculated. We performed bivariate quantitative genetic analyses in the total sample containing 2667 Caucasian women. We also selected 206 unrelated premenopausal women and 140 unrelated postmenopausal women from the total sample, and computed the respective phenotypic correlation between obesity and AAM in these two subgroups. Results: For fat mass, lean mass and BMI, we detected their significant negative genetic correlations with AAM after adjustment for significant covariates, which were À0.3170 (Po0.001), À0.1721 (Po0.05) and À0.3665 (Po0.001), respectively. However, their environmental correlations with AAM were all nonsignificant (P40.05), ranging from À0.0016 to 0.0192. In the premenopausal subgroup, significant associations were observed between fat mass and AAM (r ¼ À0.231, Po0.01) as well as between BMI and AAM (r ¼ À0.257, Po0.01). In the postmenopausal subgroup, no such associations were observed. Conclusion: Our results for the first time suggested that significant phenotypic association between obesity phenotypes and AAM is mainly attributable to shared genetic rather than environmental factors, and AAM may have stronger effects on obesity phenotypes in pre-than in postmenopausal women.

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“…The estimated heritability for AAM ranges from 50% to 70% [15][16][17][18]. Several candidate genes have been suggested to influence AAM, such as androgen receptor (AR), estrogen receptor alpha (ER-a) and beta (ER-b) [19][20][21], vitamin D receptor (VDR), sex hormone binding globulin (SHBG) [22], insulin-like growth factor 1 (IGF-1) [23], chemokine (C-C-motif) receptor 3 (CCR3) [24], and the CYP gene family [25][26][27].…”

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confidence: 99%

Bivariate genome-wide association study suggests that the DARC gene influences lean body mass and age at menarche

Hai

Zhang

Pei

et al. 2012

Sci. China Life Sci.

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Lean body mass (LBM) and age at menarche (AAM) are two important complex traits for human health. The aim of this study was to identify pleiotropic genes for both traits using a powerful bivariate genome-wide association study (GWAS). Two studies, a discovery study and a replication study, were performed. In the discovery study, 909622 single nucleotide polymorphisms (SNPs) were genotyped in 801 unrelated female Han Chinese subjects using the Affymetrix human genome-wide SNP array 6.0 platform. Then, a bivariate GWAS was performed to identify the SNPs that may be important for LBM and AAM. In the replication study, significant findings from the discovery study were validated in 1692 unrelated Caucasian female subjects. One SNP rs3027009 that was bivariately associated with left arm lean mass and AAM in the discovery samples (P=7.26×10 6) and in the replication samples (P=0.005) was identified. The SNP is located at the upstream of DARC (Duffy antigen receptor for chemokines) gene, suggesting that DARC may play an important role in regulating the metabolisms of both LBM and AAM.bivariate genome-wide association study, age at menarche, lean body mass, DARC gene Citation:Hai R, Zhang L, Pei Y F, et al. Bivariate genome-wide association study suggests that the DARC gene influences lean body mass and age at menarche. Sci China Life Sci, 2012, 55: 516 -520,

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The oestrogen receptor gene is linked and/or associated with age of menarche in different ethnic groups

Cited by 44 publications

References 31 publications

Estrogen receptor alpha polymorphisms: correlation with clinicopathological parameters in breast cancer

Estrogen receptor alpha polymorphisms: correlation with clinicopathological parameters in breast cancer

Genetic and environmental correlations between obesity phenotypes and age at menarche

Bivariate genome-wide association study suggests that the DARC gene influences lean body mass and age at menarche

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