Failure to detect significant association between estrogen receptor-alpha gene polymorphisms and endometriosis in Japanese women

Matsuzaka, Yasunari; Kikuti, Yukie Y.; Izumi, Shun-ichiro; Goya, Kenichi; Suzuki, Takahiro; Lv, Cai; Oka, Akira; Inoko, Hidetoshi; Kulski, Jerzy K.; Kimura, Minoru

doi:10.1007/s12199-011-0259-1

Cited by 9 publications

(10 citation statements)

References 33 publications

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“…Some studies indicate that common genetic variants within ER cofactor genes are unlikely to play significant role in endometrial cancer risk in the European population [91]. In a further study the c.454-397C→T CC and c.454-351A→G GG genotypes were associated with a decreased risk for endometrial cancers [92].…”

Section: Presumed Role Of Gene Polymorphism In the Alterations Of Estmentioning

confidence: 80%

Low Estrogen Exposure and/or Defective Estrogen Signaling Induces Disturbances in Glucose Uptake and Energy Expenditure

Suba¹

2013

J Diabetes Metab

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Correlations between estrogen signaling and human morbidity seems to be very unclear and difficult topic. Nowadays, the opinions of scientists have been partially changed regarding "estrogen induced diseases", but the overwhelming literary data are still contradictory. Physiological estrogen levels in healthy premenopausal women supply protection against insulin resistance, hypertension, cardiovascular diseases and malignancies as compared with men of the same age. However, after menopause a decreased ovarian estrogen synthesis will rapidly deteriorate the glucose sensitivity and increases the prevalence of life threatening diseases. New findings on the functions of tissular estrogen receptors (ERs) indicate that estradiol plays important role in the maintenance of glucose homeostasis and energy expenditure. Diverse disorders associated with insulin resistance are usually well treatable by estradiol substitution both in pre-and postmenopausal women as well as in animal experiments. ERs seem to have balanced interplay in the maintenance of adaptation to the momentarily changing intra and extracellular stimuli. This equilibrium may be shattered in case of a defective estrogen supply or by the derangement of ER signaling pathways. Understanding the crosstalk and interplay between ERs illuminates the fact that there is no good or bad ER isoform, but they construe a complex system so as to achieve an ideal internal milieu. Considering the regulatory effects of ERs on food intake, insulin secretion, glucose uptake and metabolic processes, estrogen administration may be a therapeutic avenue to repair insulin sensitivity in patients with dysmetabolism and diabetes mellitus.

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Section: Presumed Role Of Gene Polymorphism In the Alterations Of Estmentioning

confidence: 80%

Low Estrogen Exposure and/or Defective Estrogen Signaling Induces Disturbances in Glucose Uptake and Energy Expenditure

Suba¹

2013

J Diabetes Metab

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“…In a case-control study, patients homozygous for the ESR1 C allele polymorphism rs2234693 were found to be associated with a significantly augmented risk of leiomyoma (61). However, in a case-control study of 100 cases, ESR1 polymorphisms did not seem to contribute to disease susceptibility (152). In a similar study, infertile women with the ESR1 rs9340799 GG genotype presented a 4-fold higher risk of endometriosis (153).…”

Section: Genetic Association Studiesmentioning

confidence: 96%

Defining the genetic profile of endometriosis (Review)

et al. 2019

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Endometriosis is a pathological condition which has been extensively studied, since its pathophysiology stems from a broad spectrum of environmental influences and genetic factors. Familial studies aim at defining inheritance trends, while linkage analysis studies focus on the identification of genetic sites related to endometriosis susceptibility. Genetic association studies take into account candidate genes and single nucleotide polymorphisms, and hence target at unraveling the association between disease severity and genetic variation. The common goal of various types of studies is, through genetic mapping methods, the timely identification of therapeutic strategies for disease symptoms, including pelvic pain and infertility, as well as efficient counselling. While genome-wide association studies (GWAS) play a primary role in depicting genetic contributions to disease development, they entail a certain bias as regards the case-control nature of their design and the reproducibility of the results. Nevertheless, genetic-oriented studies and the implementation of the results through clinical tests, hold a considerable advantage in proper disease management. In this review article, we present information about gene-gene and gene-environment interactions involved in endometriosis and discuss the effectiveness of GWAS in identitying novel potential therapeutic targets in an attempt to develop novel therapeutic strategies for a better management and treatment of patients with endometriosis.

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“…Previous reports have shown associations of ESR1 genetic variants with susceptibility to endometriosis and fertility status [6, 8–13], but many studies failed to achieve an association regarding ESR1 variants and endometriosis-related infertility [9, 14–16]. Interestingly, Lamp et al linked ESR1 SNPs only to endometriosis without infertility [12], while Wang et al associated ESR1 rs3798573 with risk of both endometriosis and infertile endometriosis in Han Chinese women [13].…”

Section: Introductionmentioning

confidence: 99%

ESR1rs9340799 Is Associated with Endometriosis-Related Infertility andIn VitroFertilization Failure

et al. 2013

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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 fertilization (IVF) failure. We included 98 infertile women with endometriosis, 115 infertile women with at least one IVF failure and also 134 fertile women as controls. TaqMan SNP assays were used for genotyping LIF (rs929271), MDM2 (rs2279744), MDM4 (rs1563828), USP7 (rs1529916), and ESR1 (rs9340799 and rs2234693) polymorphisms. The SNP ESR1 rs9340799 was associated with endometriosis-related infertility (P < 0.001) and also with IVF failure (P = 0.018). After controlling for age, infertile women with ESR1 rs9340799 GG genotype presented 4-fold increased risk of endometriosis (OR 4.67, 95% CI 1.84–11.83, P = 0.001) and 3-fold increased risk of IVF failure (OR 3.33, 95% CI 1.38–8.03, P = 0.007). Our results demonstrate an association between ESR1 rs9340799 polymorphism and infertile women with endometriosis and also with women who were submitted to IVF procedures and had no blastocyst implantation.

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Failure to detect significant association between estrogen receptor-alpha gene polymorphisms and endometriosis in Japanese women

Cited by 9 publications

References 33 publications

Low Estrogen Exposure and/or Defective Estrogen Signaling Induces Disturbances in Glucose Uptake and Energy Expenditure

Low Estrogen Exposure and/or Defective Estrogen Signaling Induces Disturbances in Glucose Uptake and Energy Expenditure

Defining the genetic profile of endometriosis (Review)

ESR1rs9340799 Is Associated with Endometriosis-Related Infertility andIn VitroFertilization Failure

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