Lipid profile and inflammatory markers associated with estrogen receptor α PvuII and XbaI gene polymorphisms

Boroumand, Mohammadali; Ghaedi, Mahboubeh; Mohammadtaghvaei, Narges; Pourgholi, Leyla; Anvari, Maryam Sotoudeh; Davoodi, Gholamreza; Amirzadegan, Alireza; Saadat, Soheil; Sheikhfathollahi, Mahmood; Goodarzynejad, Hamidreza

doi:10.1016/j.trsl.2009.02.006

Cited by 13 publications

(11 citation statements)

References 33 publications

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“…ESR1 is an interesting candidate gene because estrogen has benefi cial eff ects on cardiovascular health. Of the polymorphisms identifi ed in the ESR1 gene, 2 single nucleotide polymorphisms (SNPs), c.454-351 A>G and c.454-397 T>C, are most widely investigated (14,15).…”

Section: Introductionmentioning

confidence: 99%

Op-025: The Esr1 Gene Polymorphisms in Coronary Artery Disease in the Southeastern Turkish Population

Hazar¹,

Dilmeç²,

Koçarslan³

et al. 2011

International Journal of Cardiology

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Section: Introductionmentioning

confidence: 99%

Op-025: The Esr1 Gene Polymorphisms in Coronary Artery Disease in the Southeastern Turkish Population

Hazar¹,

Dilmeç²,

Koçarslan³

et al. 2011

International Journal of Cardiology

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“…The homozygous mutant in the ESR1 XbaI AA shows two bands sized 936 and 436 bp, the heterozygous AG produces three bands (1327, 936 and 436 bp), and the homozygous wildtype GG shows a band size of 1327 bp (FIGURE 2). 14 We also analyzed and compared the mammography density in all groups. The mean percentage density in women with one or two copies of the PvuII p allele (CT/Pp and TT/pp, 49% and 48%, respectively) was higher than in those with the CC/PP genotype (39%).…”

Section: Resultsmentioning

confidence: 99%

“…9 For ESR1 PvuII, the TT homozygous mutant shows two bands sized 982 and 390 bp, the heterozygous CT produces three bands (1372, 982 and 390 bp), and the homozygous CC wildtype shows a single band of 1327 bp. 14…”

Section: Polymerase Chain Reaction-restriction Fragment Length Polymomentioning

confidence: 99%

Mammographic density and estrogen receptor a gene polymorphism in Javanese women

et al. 2017

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Estrogen plays important roles in breast cancer as it binds its receptor in breast tissue. The most studied variants in estrogen receptor a encoded by ESR1 gene are the ESR1 PvuII and XbaI polymorphisms, which were associated with lower sensitivity to estrogen. We determined the proportion of ESR1 XbaI and PvuII polymorphisms in Javanese woman in Yogyakarta, Indonesia and analyzed the correlation between genetic variations with mammogram density. ESR1 XbaI and PvuII polymorphisms of 50 cases and 58 controls were identified using PCR-RFLP. Breast density was assessed based on digitizer mammograms. Quantitative analysis was performed using an interactive program based on cumulus of two thresholds. Mean of density and frequencies of SNPs were compared between cases and controls to identify the association between SNPs and cancer susceptibility. Mammographic density was significantly higher in cases (52%) than controls (0.41%) (p < 0.05). Women with one or two copies of the PvuII T allele and XbaI A allele had higher mammographic density compared with women with C and G alleles, respectively. The proportion between PP and TT genotype was not statistically significant (p > 0.05), while the proportion between AA and GG was significantly different (p < 0.05). Haplotype 2 (CG/PX) was associated with lower sensitivity to estrogen and reflects a decrease of mammographic density. These findings were consistent with other studies that showed that ESR1 polymorphisms may affect breast cancer risk through differences in breast density. dibandingkan dengan wanita dengan alel C dan G, secara berurutan. Proporsi antara genotipe PP dan TT tidak signifikan secara statistik (p> 0,05), sedangkan proporsi antara AA dan GG berbeda secara signifikan (p <0,05). Haplotype 2 (CG / PX) berkaitan dengan sensitivitas yang lebih rendah terhadap estrogen dan mencerminkan penurunan kepadatan mamografi. Temuan ini konsisten dengan penelitian lain yang menunjukkan bahwa polimorfisme ESR1 dapat mempengaruhi risiko kanker payudara melalui perbedaan kepadatan payudara.

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“…Some genetic investigations were conducted to establish the effect of PvuII ER - α gene polymorphism on systemic inflammation. Some studies indicated proinflammatory profile in individuals with TT variant of this polymorphism [ 22 ], whereas other showed lack of such connection [ 23 ] or even inverse relationship between presence of this particular genotype and chosen inflammation-related factors [ 18 ]. Despite their differences, these studies have provided further evidence of the potential role of PvuII ER - α gene polymorphism in inflammation.…”

Section: Introductionmentioning

confidence: 99%

Estrogen receptor α gene polymorphism and vascular complications in girls with type 1 diabetes mellitus

et al. 2017

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The effect of estrogens is mediated by activation of estrogen receptors (ERs). Because ER-α gene polymorphisms may exert different effects in childhood, we analyzed the associations between the IVS1 −397T>C (PvuII) polymorphism and systemic inflammatory state, proangiogenic factors, frequency of monocyte subsets, lipid profile, blood pressure, and vascular complications in girls with type 1 diabetes mellitus (DM1). We examined 180 young girls with DM1 and 120 healthy age-matched controls. The analysis concerned PvuII polymorphism of the ER-α gene as well as the levels of serum inflammatory markers (CRP, IL-6, TNF-α), proangiogenic factors (VEGF, angiogenin), 17β-estradiol, values of monocyte subsets (CD14++CD16− and CD14+CD16+), lipid profile, and blood pressure. In our study, girls with CC genotype had lower level of inflammatory and angiogenic factors and lower frequencies of CD14+CD16+ monocytes in comparison to CT or TT carriers. Simultaneously, the CC carriers had a greater population of CD14++CD16− monocytes, increased blood pressure, and serum levels of: estrogen, total cholesterol, triglycerides, and low-density lipoprotein cholesterol than girls bearing CT or TT genotype. Our study suggests a pleiotropic effect of PvuII polymorphic CC variant on diabetic vasculopathies. Although the CC genotype carriers demonstrate less inflammatory and angiogenic activity, they seem to display less favorable cardiometabolic features. Based on our study, we cannot distinguish PvuII ER-α genotype that could be useful in identification of DM1 girls that are more prone to develop of late vascular complications, before the occurrence of first clinical symptoms.

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Lipid profile and inflammatory markers associated with estrogen receptor α PvuII and XbaI gene polymorphisms

Cited by 13 publications

References 33 publications

Op-025: The Esr1 Gene Polymorphisms in Coronary Artery Disease in the Southeastern Turkish Population

Op-025: The Esr1 Gene Polymorphisms in Coronary Artery Disease in the Southeastern Turkish Population

Mammographic density and estrogen receptor a gene polymorphism in Javanese women

Estrogen receptor α gene polymorphism and vascular complications in girls with type 1 diabetes mellitus

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