Estrogen receptor α polymorphism as a genetic marker for bone loss, vertebral fractures and susceptibility to estrogen

Kobayashi, Noriko; Fujino, Takafumi; Shirogane, Toru; Furuta, Itsuko; Kobamatsu, Yoko; Yaegashi, Minoru; Sakuragi, Noriaki; Fujimoto, Seiichiro

doi:10.1016/s0378-5122(01)00287-0

Cited by 66 publications

(25 citation statements)

References 18 publications

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“…The rs2234693 SNP analyzed here has been a subject of particular interest. In the literature it has been commonly referred to as the PvuII polymorphism, as many investigators characterized it by using the PvuII restriction enzyme [13][14][15][16]. In this study we did not find significant differences in estrogen receptor allele or genotype distribution between hip fracture patients and controls.…”

Section: Discussioncontrasting

confidence: 41%

Association of aromatase and estrogen receptor gene polymorphisms with hip fractures

et al. 2007

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Summary Two polymorphisms of the aromatase and estrogen receptor genes appeared to interact to influence the risk of hip fractures in women. Introduction Allelic variants of the aromatase gene have been associated with bone mineral density and vertebral fractures. Our objective was to analyze the relationship between two polymorphisms of the aromatase and estrogen receptor genes and hip fractures. Methods We studied 498 women with hip fractures and 356 controls. A C/G polymorphism of the aromatase gene and a T/C polymorphism of the estrogen receptor α gene were analyzed using Taqman assays. Aromatase gene expression was determined in 43 femoral neck samples by real-time RT-PCR. Results There were no significant differences in the overall distribution of genotypes between the fracture and control groups. However, among women with a TT genotype of the estrogen receptor, the CC aromatase genotype was more frequent in women with fractures than in controls (39 vs. 23%, p=0.009). Thus, women homozygous for T alleles of estrogen receptor and C alleles of aromatase were at increased risk of fracture (odds ratio 2.0; 95% confidence interval 1.2-3.4). The aromatase polymorphism was associated with RNA levels in bone tissue, which were three times lower in samples with a CC genotype (p=0.009). Conclusions These common polymorphisms of the aromatase and estrogen receptor genes appear to interact, influencing the risk of hip fractures in women.

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Section: Discussioncontrasting

confidence: 41%

Association of aromatase and estrogen receptor gene polymorphisms with hip fractures

et al. 2007

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“…Mitra et al obtained similar results in their study that indicated average lumbar vertebra BMD value of "PP" genotypes was found higher than those of the "pp" genotype [7]. On the other hand, the relation was not [8,9,14,16,20,21]. The results of these studies were consistent with the presented findings with regard to the relation of XbaI polymorphism and BMD, but not the relation of PvuII polymorphisms and BMD.…”

Section: Discussionsupporting

confidence: 81%

Association of estrogen receptor alpha and collagen type I alpha 1 gene polymorphisms with bone mineral density in postmenopausal women

et al. 2010

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“…Although the underlying mechanisms remain unclear, variable responses to estrogen replacement could stem from genetic variations in ESR1 and/or ESR2 genes that modify the efficacy or toxicity of treatment. This issue has been investigated in various studies performed in different ethnic populations with conflicting results [64][65][66][67][68][69][70][71][72][73][74][75][76][77]. An updated summary concerning pharmacogenomic studies of ESR1 genotypes and estrogen replacement is given on table 3.…”

Section: Gene Polymorphisms and The Response To Estrogen Replacement mentioning

confidence: 99%

Pharmacogenomics of Osteoporosis

Gennari

2010

Clinic Rev Bone Miner Metab

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Pharmacogenomics and pharmacogenetics are emerging interdisciplinary areas recently defined, respectively as ''the investigation of variations of DNA and RNA characteristics as related to drug response'', and the study of ''the influence of variations in DNA sequence on drug efficacy and toxicity''. A major challenge of future genetic studies in complex disorders such as osteoporosis is the development of specific genetic tests to identify responders from non-responders as well as to identify patients at higher risk to develop adverse reactions. Even though the knowledge of the genetic determinants of bone fragility and fracture risk has consistently increased over the past decade and despite the parallel development of multiple drugs with antiresorptive or anabolic activity in bone, there is still relatively little known about pharmacogenomics and pharmacogenetics of osteoporosis. This review provides an overview of available information and identifies potential targets for future studies in this field.

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Estrogen receptor α polymorphism as a genetic marker for bone loss, vertebral fractures and susceptibility to estrogen

Cited by 66 publications

References 18 publications

Association of aromatase and estrogen receptor gene polymorphisms with hip fractures

Association of aromatase and estrogen receptor gene polymorphisms with hip fractures

Association of estrogen receptor alpha and collagen type I alpha 1 gene polymorphisms with bone mineral density in postmenopausal women

Pharmacogenomics of Osteoporosis

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