Lipid, haemostatic and inflammatory variables in relation to the estrogen receptor α (ESR1) PvuII and XbaI gene polymorphisms

ESR1 polymorphisms and statin therapy: a sex-specific approach

“…Other studies have found that C allele is related to CVD severity, 44,45 atherosclerosis severity 46 and higher TC levels in women of European descent. 23 The tagSNP rs2234693 is located in intron 1 and predicts three other SNPs (rs6902771, rs9479130 and rs3853252). We advise against making generalizations based on this variant, at least until a sufficient number of additional studies have been performed.…”

“…20 ERα is encoded by ESR1, 21 and several single nucleotide polymorphisms (SNPs) have been involved in mediating the effects of estrogen on LDL-C, HDL-C and TG metabolism. [22][23][24] Men and women show significant differences with regard to the risk of cardiovascular disease (CVD) development, 25 which may be the result of sex-specific differences in gene regulatory mechanisms, particularly those governed by the response to sex hormones. 26,27 A review from Yoon 28 suggests that sexual dimorphism and the ERs (α and β) are involved in the response to lipid-lowering therapy.…”

Estrogen receptor αlpha gene (ESR1) PvuII and XbaI polymorphisms are associated to metabolic and proinflammatory factors in polycystic ovary syndrome

“…The gene-encoding estrogen receptor (ESR) is located on the long arm of chromosome 6 (6q25.1). It contains 8 exons, and its introns have been shown to be highly conserved (Ponglikitmongkol et al, 1988;Molvarec et al, 2007a). Alternative splicing is observed after gene transcription, resulting in different mRNAs, which differ primarily in the 5′ untranslated region (Flouriot et al, 2000;Kos et al, 2001).…”

Are polymorphisms in oestrogen receptors genes associated with lipid levels in response to hormone therapy?

“…In a review of the literature, we identified several studies that investigated the association of ESR1 gene polymorphisms with intermediate or endpoint markers of CVD, as lipid levels [8][9][10][11][12][13][14][15][16][17][18][19][20][21][22]. Most of these studies focused on two polymorphisms, rs2234693 and rs9340799.…”