Association between estrogen receptor alpha gene polymorphisms and bone mineral density in Polish female patients with Graves' disease.

Ignaszak-Szczepaniak, Magdalena; Horst‐Sikorska, Wanda; Dytfeld, Joanna; Gowin, Ewelina; Słomski, Ryszard; Stajgis, Marek

doi:10.18388/abp.2011_2292

Cited by 4 publications

(2 citation statements)

References 30 publications

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“…They found that in premenopausal women with GD, homozygous for xx of Xba I (AA) and pp of Pvu II (TT) had the lowest BMD at the lumbar spine. Moreover, the px haplotype was predisposed to reduced lumbar spine BMD [55].…”

Section: Discussionmentioning

confidence: 99%

ESR1 Gene Variants Are Predictive of Osteoporosis in Female Patients with Crohn’s Disease

Krela‐Kaźmierczak

Skrzypczak-Zielińska

Kaczmarek-Ryś

et al. 2019

JCM

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Decreased bone mass in patients with inflammatory bowel diseases (IBD) is a clinical problem with extremely severe consequences of osteoporotic fractures. Despite its increasing prevalence and the need for mandatory intervention and monitoring, it is often ignored in IBD patients’ care. Determining the biomarkers of susceptibility to bone mineral density disorder in IBD patients appears to be indispensable. We aim to investigate the impact of estrogen receptor gene (ESR1) gene polymorphisms on bone mineral density (BMD) in patients with ulcerative colitis (UC) and Crohn’s disease (CD), as they may contribute both, to osteoporosis and inflammatory processes. We characterised 197 patients with IBD (97 with UC, 100 with CD), and 41 controls carrying out vitamin D, calcium and phosphorus serum levels, and bone mineral density assessment at the lumbar spine and the femoral neck by dual-energy X-ray absorptiometry (DXA), ESR1 genotyping and haplotype analysis. We observed that women with CD showed the lowest bone density parameters, which corresponded to the ESR1 c.454-397T and c.454-351A allele dose. The ESR1 gene PvuII and XbaI TA (px) haplotype correlated with decreased femoral neck T-score (OR = 2.75, CI = [1.21–6.27], P-value = 0.016) and may be predictive of osteoporosis in female patients with CD.

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Section: Discussionmentioning

confidence: 99%

ESR1 Gene Variants Are Predictive of Osteoporosis in Female Patients with Crohn’s Disease

Krela‐Kaźmierczak

Skrzypczak-Zielińska

Kaczmarek-Ryś

et al. 2019

JCM

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“…Recent studies have determined that the single nucleotide polymorphisms (SNPs) of ESRα might be related to many disorders, including osteoporosis [19], stroke [20], and Alzheimer’s disease [21]. Interestingly, other studies have indicated that the SNPs in ESRα are also associated with many psychiatric disorders.…”

Section: Introductionmentioning

confidence: 99%

Association of estrogen receptor alpha gene polymorphism with age at onset, general psychopathology symptoms, and therapeutic effect of schizophrenia

Wang

Zhao

et al. 2013

Behav Brain Funct

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BackgroundEstrogen is believed to play an important role in the central nervous system (CNS) and exert a protective role against schizophrenia. Estrogen receptor alpha (ESRα) mediates the biological action of estrogen. Rs2234693 and rs9340799, single nucleotide polymorphisms of ESRα, may be related to many psychiatric disorders, while their association with schizophrenia has not been clarified.MethodsGenotypes rs2234693 and rs9340799 were detected in 303 schizophrenic patients and 292 healthy controls in a Chinese population. The positive and negative syndrome scale (PANSS) was used to estimate symptoms and therapeutic effects. The association of these polymorphisms with schizophrenia and clinical characteristics was analyzed by the chi-square test, analysis of variance, and others.ResultsThe distribution of genotypes and allele frequencies of rs2234693 and rs9340799 exhibited no significant differences between patients and controls, while haplotypes consisting of these polymorphisms had significant differences. For 2234693, T-allele carriers had an earlier age at onset. CC-homozygote carriers had a higher general psychopathology score and its percentage reduction in male and paranoid patients, respectively. CC-homozygote carriers had a higher tension (G4) and poor impulse control (G14) score, mainly in paranoid patients. Furthermore, patients with the CC homozygote had higher reductions of G4 and G14 scores when treated by aripirazole and risperidone, respectively.ConclusionsHaplotypes consisting of these two polymorphisms in ESRα may be strongly associated with schizophrenia. The rs2234693 was related to age at onset, general psychopathology, G4 and G14 symptoms, even the therapeutic effect in different groups.

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Influence of Estrogen Receptor Alpha Polymorphism on Bone Mineral Density in Iranian Children

et al. 2019

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Background: Bone mass acquisition in childhood is directly linked to adult bone mineral density (BMD) and fracture risk. BMD is a heritable trait, more than 70% of its variability among a population is affected by genetic factors. Objectives: In the present study, we wanted to investigate the association between estrogen receptor alpha (ESR1) polymorphisms, PvuII (rs2234693) and XbaI (rs9340799), and bone area, bone mineral content (BMC), and BMD of the lumbar spine, femoral neck, and also of the total body less the head in Iranian children. Methods: The ESR1 gene PvuII and XbaI genotypes were determined by polymerase chain reaction-restriction fragment length polymorphism. Bone area, BMC, BMD, and bone mineral apparent density (BMAD) were assessed by dual-energy X-ray absorptiometry (DEXA). Linear regression was carried out to examine the effects of the ESR1 (PvuII and XbaI) polymorphisms on DEXA outputs when adjusted for confounding factors (i.e., age, sex, BMI, and pubertal stage) in 3 models. Results: ESR1 (PvuII) gene polymorphisms (CT vs. CC) showed significant effects on the BMC of the total body less the head in all 3 models. For ESR1 (XbaI), individuals with the AG genotype had higher lumbar spine BMD and lumbar spine BMAD compared to other genotypes. Conclusions: It seems that the PvuII and XbaI polymorphisms of ESR1 could be associated with BMC and BMD variation in Iranian children and adolescents.

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Association between estrogen receptor alpha gene polymorphisms and bone mineral density in Polish female patients with Graves' disease.

Cited by 4 publications

References 30 publications

ESR1 Gene Variants Are Predictive of Osteoporosis in Female Patients with Crohn’s Disease

ESR1 Gene Variants Are Predictive of Osteoporosis in Female Patients with Crohn’s Disease

Association of estrogen receptor alpha gene polymorphism with age at onset, general psychopathology symptoms, and therapeutic effect of schizophrenia

Influence of Estrogen Receptor Alpha Polymorphism on Bone Mineral Density in Iranian Children

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