ERα Gene Polymorphisms Research Articles

Association of the KISS1, LIN28B, VDR and ERα gene polymorphisms with early and fast puberty in Chinese girls

Objectives To explore the association of KISS1, LIN28B, vitamin D receptor (VDR), and estrogen receptor α (ERα) gene polymorphisms and the risk of early with fast puberty (EFP) risk, and with hormone levels in EFP cases, in Chinese girls. Methods The analysis was based on the data of 141 girls with EFP and 152 girls without EFP. Clinical features were documented, and all SNP genotyping was conducted using SNaPshot method. Statistical analysis was performed to assess the association of the SNPs with EFP risk, and with hormone levels in EFP cases. Results There was a significant association between rs7759938-C polymorphism in the LIN28B gene and the risk for EFP in the recessive (TT + CT vs. CC) model (p = 0.040). Remarkably, rs5780218-delA polymorphism in the KISS1 gene and rs2234693-C polymorphism in the ERα gene were significantly associated with peak LH (luteinizing hormone) levels (p = 0.008, 0.045) and peak LH/FSH (follicle-stimulating hormone) ratio (p = 0.007, 0.006). Additionally, on 7 of the 8 variant loci the alleles associated with increased levels of both peak LH levels and peak LH/FSH ratio in EFP cases were also associated with increased CPP risk. Conclusions Our findings indicate that rs7759938-C polymorphism in the LIN28B gene might have a protective effect on EFP susceptibility. The most striking findings of this study is that, rs5780218-delA polymorphism in the KISS1 gene and rs2234693-C polymorphism in the ERα gene influenced levels of GnRH-stimulated peak LH and LH/FSH ratio, and in general CPP risk genes might also contributes to the abnormality of hormonal levels in EFP.

Correlation between ERα gene polymorphism and multiple sclerosis and neuromyelitis optica.

Objective:To study the polymorphism distribution of estrogen receptor (ER) α gene and the correlation between different types of polymorphism in multiple sclerosis (MS) and neuromyelitis optica (NMO) patients.Methods:Forty-six cases of MS and NMO diagnosed from June 2018 to December 2019 were collected. Peripheral venous blood samples were collected. The patient’s gender, age of onset, course of disease, and other clinical data were recorded. Fifty-eight healthy volunteers of the same age and sex were selected. By means of Pvu II and Xba I restriction fragment length polymorphism enzyme recognition sites of ER α gene, polymerase chain reaction-restriction fragment length polymorphism analysis was conducted.Results:There was no significant difference in the frequency distribution of ER α gene’s PP, Pp, and pp genotype between MS and NMO case group and control group (P = .598). Frequency distribution of ER α gene’s XX, Xx, and xx was statistically significant between MS and NMO case group and control group (P = .021). Among them, distribution of Xx and Xx gene frequency between patient group and the control group was statistically significant (P = .001, OR = 4.622, 95% CI: 1.803–11.852). There was no significant correlation between ER α genotypes and the onset age in patient group (P > .05). The difference was statistically significant in disease duration of XX and Xx genotype (P = .006). The comparison of Xx and xx genotype frequency distribution in gender exists a difference(P = .047, OR = 7.500, 95% CI: 1.023–54.996).Conclusions:Xba I gene polymorphisms in the ER α gene have correlation with MS and NMO. Xba I gene could be a risk factor of MS and NMO pathogenesis, especially the women with Xx genotype are more vulnerable. Xba I gene polymorphisms in the ER α gene may impact the disease duration of MS and NMO, or rather, the disease duration of Xx genotype persists longer than Xx genotype. Pvu II gene polymorphisms in the ER α gene has no correlation with MS and NMO.

The correlation between Erα gene polymorphism and the distribution pattern of fascia syndrome in women with knee osteoarthritis

Objective To study the correlation between Erα gene polymorphism and the distribution pattern of TCM meridian syndrome in women with knee osteoarthritis. Methods A total of 120 Knee osteoarthritis (KOA) female patients admitted to our hospital between January 2018 and December 2018 were selected as the observation group, and 120 healthy female subjects accepted physical examination at our hospital over the same period were selected as the control group. The Erα gene distribution of estrogen receptor was compared between the two groups to identify the differences between KOA women and healthy women. The TCM syndromes and meridians types of the patients in the observation group were defined to evaluate the degree of KOA. The correlation among KOA status, Erαgenotypes, TCM syndromes and meridians was analyzed. Results The distribution of Erα gene XbaI was significantly different between the observation group and the control group (χ2=35.339, P<0.001). There was a statistical difference in the distribution of XbaI genotypes between mild to moderate and severe patients in the observation group (χ2=29.088, P<0.001). There was a moderate correlation between the Lequesne score and the fascia type in KOA women, and a high correlation between the Lequesne score and the TCM syndrome differentiation type, and a moderate correlation between the Lequesne score and the Erα gene and the XbaI genotype (P<0.05). The Erα gene polymorphisms, meridians and syndrome differentiation were moderately correlated (P<0.05). Conclusions In female patients with knee osteoarthritis, the conditions are more serious in patients with complex type of tendons, deficiency of liver and kidney, phlegm and blood stasis, Erα gene xx genotype, and there is a clear correlation between the TCM type of tendons and ER gene polymorphism. Key words: Osteoarthritis, knee; Female; Estrogen receptor alpha; Genotype; Syndrome differentiation classification; Syndrome type

Association of Estrogen Receptor α Gene Polymorphism and its Expression with Gestational Diabetes Mellitus

Background:The estrogen receptor α (ERα) gene is a potential candidate gene of gestational diabetes mellitus (GDM). Objectives: The purpose of the study was to investigate the relationship of ERα gene polymorphism (single nucleotide polymorphism [SNP]) and its expression in placental tissues with the development of GDM. Methods: The SNPs of PvuII and Xba I in the ERα gene of 175 pregnant women with GDM and 240 healthy pregnant women were detected by polymerase chain reaction-restriction fragment length polymorphism. Immunohistochemistry and western blotting were used to analyze the expression of the ERα gene in placental tissues. Results: The results showed that the frequency of the CC + CT genotype and the C allele frequency of PvuII in the GDM group was significantly higher than that of the control group (p < 0.05). There was no significant difference in the genotype distribution and allele frequency of Xba I between the GDM group and control group. The expression of ERα in placental tissues of pregnant women with GDM was higher than that in the control group (p < 0.05). The participants with the PvuII CC + CT genotype had elevated levels of fasting blood glucose, homeostasis model assessment of insulin resistance (IR), and ERα expression in placental tissues compared with those with the TT genotype in the GDM group (p < 0.05). The SNP of Xba I of ERα gene had no correlation with clinical biochemical indicators of GDM and the expression of ERα in placental tissues (p > 0.05). Conclusions: This study suggested that SNP of the ERα gene and abnormal expression of ERα in placenta tissues were associated with GDM. The C allele of PvuII may be associated with GDM. In addition, SNP of the PvuII site in pregnant women with GDM was related to the degree of IR and to the upregulation of ERα expression in placental tissues, which may play an important role in the pathogenesis of GDM.

Association of glutathione S-transferase M1 and T1 null/present polymorphism with physical performance in the Korean population.

Human physical performance is a highly complex phenotype that is influenced by various factors. In particular, genetic factors related to muscle fiber type, bone density, muscle performance, and metabolic processes are known to contribute in varying degrees to athlete status and physical performance in various ethnic groups. To investigate the relationship between these genetic factors and physical performances, we genotyped five genetic polymorphisms (ACE Ins/Del, ACTN3 R577X, ER-α C/T, GSTM1 null/present, and GSTT1 null/present) in 111 Korean athletes and 145 controls. We examined genotype and allele frequency differences between athletes and control groups, along with the odds ratios, using Chi square. One-way analysis of variance (ANOVA) was used to test the significance of differences in continuous variables between the multiple genetic polymorphisms and physical performance test results. The GSTM1 polymorphism exhibited a highly significant association in athletes (p = 0.017). Combined analysis of GSTM1 and GSTT1 also revealed significant differences between athletes and controls (p < 0.05). In the analysis of physical performance within athletes, the ER-α gene polymorphism was associated with the sargent jump and the side-step (p < 0.05), and the GSTM1 gene polymorphism was significantly associated with the 20m shuttle run and sit-up (p < 0.05). Thus, our data imply that GSTM1 and ER-α gene polymorphisms were associated with physical performance in Korean athletes, although functional studies with larger sample sizes are necessary to elaborate upon these findings.

Association of PvuII T&gt; C and XbaI A&gt; G Polymorphisms of Estrogen Receptor α Gene with Uterine Leiomyoma: A Case-Control Study

Background: Uterine leiomyomas (ULs) are benign tumors in the uterus that their growth and progression are stimulated by the estrogen hormone. In the current study, we aimed to determine if estrogen receptor α (ERα) polymorphisms could be used as the markers of the susceptibility to UL. Methods: The ERα gene polymorphisms of 154 UL women and 186 controls were genotyped by PCR or PCR-RFLP methods. Results: The frequency of ESRα PvuII T> C polymorphism genotypes did not differ among the women with leiomyoma and controls. However, the frequency of ESRα XbaI GG genotype was significantly higher than the frequency of AA genotype (27% vs 10%) in UL women and the UL risk was 4.1 folds greater in women carrying GG genotype (P G polymorphism and TG and CG haplotypes of PvuII T> C / XbaI A> G polymorphisms could increase the risk of UL.

Associations between ER\u03b1/\u03b2 gene polymorphisms and osteoporosis susceptibility and bone mineral density in postmenopausal women: a systematic review and meta-analysis

BackgroundMany studies have reported associations between estrogen receptor (ER) gene polymorphisms and postmenopausal osteoporosis (PMOP) risk and bone mineral density (BMD), but the results are controversial. The aim of the present meta-analysis is to verify the association between ERα and ERβ gene polymorphisms and osteoporosis susceptibility and BMD in postmenopausal women.MethodsPubMed, EMBASE, Web of Science, the Cochrane Library and China WeiPu Library were searched. OR and WMD with 95% CI were calculated to assess the association.ResultsOverall, no significant association was observed between ERα XbaI, ERα PvuII and PMOP susceptibility in either overall, Caucasian or Asian populations. ERα G2014A was significantly associated with a decreased risk of PMOP in Caucasian populations. There was a significant association between ERβ RsaI and PMOP risk in both overall and Asian populations. Caucasian PMOP women with ERα XbaI XX and Xx genotypes had a higher LS Z value than women with xx genotype. ERα XbaI XX genotype was associated with increased FN BMD in overall and Caucasian populations, an increased FN Z value in Asians, and a decreased FN Z value in Caucasians. There was also a significant association between ERα XbaI Xx genotype and an increased FN Z value in either Asians or Caucasians. ERα PvuII PP genotype was associated with a low LS Z value in Caucasians and a low FN BMD and Z value in Asians. Pp genotype in PMOP women was significantly correlated with low LS BMD in overall populations, a low FN Z value in either overall, Caucasian or Asian populations.ConclusionEach ERα and ERβ gene polymorphism might have different impact on PMOP risk and BMD in various ethnicities.

Association between ERα polymorphisms and systemic lupus erythematosus: susceptibility and in silico analysis.

Systemic lupus erythematous (SLE) is a multisystem and autoimmune disorder leading to damage of multi-organ systems. The current study aimed to assess the possible association between ERα gene polymorphisms and SLE in a southeast Iranian population. The ERα PvuII and XbaI polymorphisms were genotyped by polymerase chain reaction restriction fragment length polymorphism (PCR-RFLP) method in 170 SLE patients and 186 healthy subjects. There was no association between ERα PvuII and XbaI polymorphisms and SLE susceptibility; however, the combination of the TC/AA and CC/GG genotypes of ESR α PvuII and XbaI polymorphisms were more frequent in SLE patients. The results indicated that TT haplotype of the ERα gene polymorphisms could increase the SLE risk almost 2.4-fold (odds ratio 2.4, 95% CI 1.3-4.3, P=0.005). The in silico analysis revealed that the ERα PvuII and XbaI single nucleotide polymorphisms occurred in acceptor splicing sites, and these mutations can lead to the increase of Human Splicing Finder score of the mutant alleles. The ESR α PvuII and XbaI polymorphisms have no association with SLE; however, the combination of the TC/AA and CC/GG genotypes were associated with SLE susceptibility.

No Association of Genetic Markers with Carotid Intimal Medial Thickness in β-Thalassemia Major Patients

Regular transfusion leads to cardiac siderosis resulting in cardiac complications that account for more than 71% of the total mortality in thalassemia patients. We aimed to study the variants of matrix metalloproteinase-9 (MMP9), matrix Gla protein (MGP), and estrogen receptor α(ERα), which might be contributing to atherosclerosis, leading to heart failure in thalassemia major. One hundred and five thalassemia patients on regular transfusion and iron chelation therapy were enrolled for the study. Carotid artery intimal medial thickness (CIMT) measurement was done to check for atherosclerosis. MMP 9 (C1562T), MGP (T138C), and ER α gene ( Pvu II (rs2234693T > C) and Xba I (rs9340799A > G) polymorphism were analyzed using the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method. CIMT values were within the normal range (<0.90 mm) in all patients. There was no difference in mean CIMT values between males and females (0.56 ± 0.11 versus 0.56 ± 0.12, p = 0.928). There was no correlation of CIMT with age, body surface area, and body mass index as well as with serum ferritin levels. No statistically significant difference in frequency of MMP9, MGP, and ERα genotypes was seen in two dichotomized groups of CIMT (CIMT < 0.56 and CIMT ≥ 0.56). Variants of MMP9 , MGP , and ERα have a reserved influence on cardiac disease pathogenesis, and the disease phenotype in thalassemia patients may be more strongly impacted by other factors.

Gene-environment interaction: Does fluoride influence the reproductive hormones in male farmers modified by ERα gene polymorphisms?

The occurrence of endemic fluorosis is derived from high fluoride levels in drinking water and industrial fumes or dust. Reproductive disruption is also a major harm caused by fluoride exposure besides dental and skeletal lesions. However, few studies focus on the mechanism of fluoride exposure on male reproductive function, especially the possible interaction of fluoride exposure and gene polymorphism on male reproductive hormones. Therefore, we conducted a cross-sectional study in rural areas of Henan province in China to explore the interaction between the estrogen receptor alpha (ERα) gene and fluoride exposure on reproductive hormone levels in male farmers living in the endemic fluorosis villages. The results showed that fluoride exposure significantly increased the serum level of estradiol in the hypothalamic-pituitary-testicular (HPT) axis in male farmers. Moreover, the observations indicated that fluoride exposure and genetic markers had an interaction on serum concentration of follicle-stimulating hormone and estradiol, and the interaction among different loci of the ERα gene could impact the serum testosterone level. Findings in the present work suggest that chronic fluoride exposure in drinking water could modulate the levels of reproductive hormones in males living in endemic fluorosis areas, and the interaction between fluoride exposure and ERα polymorphisms might affect the serum levels of hormones in the HPT axis in male farmers.

No association between estrogen receptor gene polymorphisms and premature thelarche in girls

Objective: Premature thelarche (PT) is a benign, nonprogressive condition defined as isolated breast development. While the pathophysiology of PT remains unclear, increased sensitivity to estrogen may cause PT. The aim of this study was to investigate the association between polymorphisms in the estrogen receptor alpha (ERα) gene and PT in girls.Methods: In this case–control study, we examined 96 girls referred for early breast development (before the age of 8 years). The control group included healthy Korean females with normal pubertal progression. Anthropometric and hormonal parameters were measured and PvuII and XbaI ERα gene polymorphisms were evaluated by PCR. Out of the 96 girls, all coding exon and exon-intron boundaries of ERα were sequenced from the DNA of 46 girls.Results: There was no significant difference in the distribution of PvuII and XbaI polymorphisms between patients and controls. However, the carriers of XbaI polymorphisms had more advanced Tanner stage than did the non-carriers. Also, four ERα gene polymorphisms were previously identified, but these polymorphisms had no clinical significance.Conclusion: No association was found between the ERα gene polymorphisms and PT in girls. However, XbaI polymorphisms may contribute to early breast budding.

Estrogen receptor alpha XbaI GG genotype was associated with severe preeclampsia

ABSTRACTPurpose: Estrogen receptor-α (ERα) plays an essential role in the adaptation of increased uterine blood flow during gestation. Therefore, ERα gene could be a possible candidate for preeclampsia (PE) susceptibility. In current study we aimed to investigate the association of the ERα gene polymorphisms and PE in an Iranian population. Methods: A total of 192 pregnant women with PE and 186 normotensive women were genotyped for ERα gene (PvuII and XbaI) polymorphisms by polymerase chain reaction-restriction fragment length polymorphism method. Results: The frequencies of alleles and genotypes of ERα PvuII and XbaI polymorphisms were not different between PE and normotensive control women. However, higher frequency of GG genotype was observed in women with severe PE compared to mild PE (OR, 1.8 [95% CI, 1.1 to 3]; p = 0.02) and in severe PE compared to normotensive women [OR = 1.8 (1.1–3), p = 0.02] after adjusting for age, ethnicity, and primiparity. Conclusions: The GG genotype of ERα XbaI polymorphism could be a genetic risk factor for PE predisposition.

Does genetic testing for ERα gene polymorphisms provide new possibilities of treatment for cognitive function disorders in postmenopausal women?

It is commonly considered that cognitive abilities decrease with age, especially with respect to processing and psychomotor speed. It is an interesting issue whether, apart from the ageing process, the undergoing of menopause itself deteriorates cognitive functions, compared to women at reproductive age. Hopes for improvement of cognitive functions were pinned on the use of menopausal hormone therapy. However, the results of studies concerning the effect of hormone replacement therapy on cognition proved to be contradictory. It seems that the essence of the problem is more complicated than only estrogen deficiency. It is suggested that estrogen receptor α (ERα) polymorphism may be responsible for the differences in the effect of estrogens on cognitive processes. The article presents current knowledge concerning the effect of estrogens on the central nervous system, especially the role of ERα polymorphism, with respect to foreseeing benefits from the use of exogenous estrogens for cognitive functions. At the present stage of research, ERα appears to be poorly specific; nevertheless, it may be an important instrument for the classification of peri- and post-menopausal patients in the group where therapy with the use of estrogens may bring about benefits in terms of prevention and treatment of cognitive disorders. It also seems necessary to conduct prophylactic, screening examination of cognitive functions in post-menopausal women, in order to identify those at risk of the development of dementia.

Estrogen receptor gene polymorphism in patients with degenerative lumbar scoliosis

Objective: To examine the association between development of degenerative lumbar scoliosis (DLS) and sex hormones.Methods: We investigated the association between DLS and estrogen receptor alpha (ERα) gene polymorphisms in 184 patients with a diagnosis of DLS, by determining the presences of the Pvu II and Xba I polymorphisms, measuring bone mineral densities at the lumbar spine (LSBMD) and femoral neck (FNBMD), and by investigating biochemical markers of bone turnover and comparing these results with those of 220 healthy normal controls.Results: Genotype frequencies in DLS patients and controls revealed a significant difference for the Pvu II polymorphism only (p = 0.0287). No significant difference was found between the DLS and control groups with respect to the Xba I polymorphism, bone mineral density (BMD), or biochemical markers. Furthermore, no significant association was observed between the Pvu II polymorphism and BMD, lumbar scoliosis, lateral listhesis, or biochemical markers in patients with DLS.Conclusion: These results suggest that the ERα Pvu II polymorphism influences the prevalence of DLS.

Endemic fluorosis in Henan province, China: ERα gene polymorphisms and reproductive hormones among women.

The aim of this study was to explore the influence of fluoride exposure and ERα gene polymorphisms on reproductive hormone concentrations of women in accordance with endemic fluorosis residence. A cross sectional study was conducted in Tongxu county, Henan Province, China. A total of 679 women were recruited using cluster sampling and each subject provided fasting blood and an associated urine sample. We measured the concentrations of serum gonadotropin releasing hormone (GnRH), follicle-stimulating hormone, luteinizing hormone, and estradiol and urinary fluoride. In the defluoridation project group (DFPG), serum GnRH was lower in women carrying C/C genotype compared to in those carrying C/T and T/T genotypes of ERα gene rs3798577 (p<0.05). In the endemic fluorosis group (EFG), serum GnRH was lower in women carrying Pp genotype compared to in those carrying PP and pp genotypes of ERα PvuII (p<0.05). Serum GnRH in women from EFG who carried Pp, pp, Xx and xx genotypes in ERα gene PvuII and XbaI was lower than in those in the control group (CG) who carried same genotypes (p<0.05). Furthermore, serum GnRH in women from EFG was significantly lower than in those in CG, regardless of whether the women were carrying C/C, C/T or T/T genotypes of ERα rs3798577 (p<0.05). Serum estradiol concentrations in EFG were significantly lower than in CG when the women were carrying the Pp, Xx and T/T genotypes in ERα gene (p<0.05). Interaction of ERα gene and fluoride exposure may influence women's serum reproductive hormone concentrations.

Grade of inflammation in boys with type 1 diabetes depends on the IVS1 −397T>C estrogen receptor α polymorphism

Background and aimsThe effect of estrogens is mediated by activation of estrogen receptors (ERs), which are expressed in many tissues. Because ER-α gene polymorphisms may exert different effects in childhood, in the present study we analyzed associations between the IVS1 −397T>C polymorphism and indicators of inflammatory response as well as late complications in boys with type 1 diabetes mellitus (DM1). Methods and resultsWe examined 108 young boys with DM1 and 64 healthy age-matched control individuals. ER-α genotyping, as well as the CRP and IL-6 serum level and blood pressure, was analyzed. In our study boys with CC genotype had lower blood pressure and IL-6 and CRP serum levels. Similar results were obtained for DM1 boys with microvascular complications — the blood pressure and serum level of IL-6, but not CRP, were still lower in the CC patients. ConclusionsOur findings suggest that the presence of −397T allele may indicate macro- and microvascular complications in DM1 boys, before the occurrence of first clinical symptoms.

Genetic polymorphism of the estrogen receptor alpha gene and susceptibility to osteoarthritis: evidence based on 15,022 subjects

Objective:Several lines of evidence suggest that estrogen receptor alpha (ER-α) gene polymorphism may influence the development of osteoarthritis (OA). However, the results are inconsistent. The aim of this study was to explore using a meta-analysis whether rs2234693 (ER-α PvuII T/C) polymorphism confers significant susceptibility to OA.Methods and results:A systematic search of all relevant studies published through 17 August 2014 was conducted using the PubMed, Web of Science, Embase, Cochrane database, Current Controlled Trials, Clinicaltrials.gov, Chinese Clinical Trial Registry, CBMdisc, CNKI and Google Scholar. All statistical analyses were done with Review Manager 5.1.4. Twelve articles involving 15 studies were included in the final meta-analysis, which contained 6417 OA cases and 8605 controls. Overall, no significant association was found between the rs2234693 polymorphism and OA risk when all studies were pooled into the meta-analysis (for C allele vs. T allele: OR = 0.99, 95% CI = 0.94–1.04, p = 0.63; for C/C vs. T/T: OR = 0.97, 95% CI = 0.87–1.08, p = 0.53; for C/C vs. T/C + T/T: OR = 0.96, 95% CI = 0.88–1.06, p = 0.43; for C/C + T/C vs. T/T: OR = 1.00, 95% CI = 0.89–1.14, p = 0.94). In the subgroup analysis, significant association was found between the rs2234693 polymorphism and the OA risk in the knee osteoarthritis (KOA) group (for C/C + T/C vs. T/T: OR = 1.15, 95% CI = 1.02–1.29, p = 0.02).Conclusions:The present meta-analysis suggests that the rs2234693 polymorphism is associated with an increased KOA risk. Additional well designed genome-wide association studies are required to confirm the result.

Association between dietary phytoestrogen intake and bone mineral density varied with estrogen receptor alpha gene polymorphisms in southern Chinese postmenopausal women.

several studies have investigated the relationship between the estrogen receptor (ER) gene polymorphisms and the efficacy of estrogen replacement therapy in postmenopausal osteoporosis. However, the association of ER polymorphisms with the effects of dietary phytoestrogens on bone metabolism has not yet been reported. This study explores the possibility that ER alpha subtype (ERα) gene polymorphisms are involved in the effects of dietary phytoestrogens on bone mineral density (BMD) in postmenopausal women. a total of 301 postmenopausal southern Chinese women were enrolled. Dietary phytoestrogen intake was evaluated using a food frequency questionnaire. ERα polymorphisms were examined with restriction fragment length polymorphism at the polymorphic PvuII and XbaI sites within intron 1. Dual-energy X-ray absorptiometry scans were performed to determine the BMD of the lumbar spine and hip. the positive association of the lumbar spine BMD with dietary phytoestrogen intake was maintained only in groups with pp or xx genotypes (p < 0.05) and disappeared in groups with other genotypes. A positive association of the hip BMD with dietary phytoestrogen intake was observed only in the xx genotype group (p < 0.05). the association of the dietary phytoestrogen intake and BMD in southern Chinese postmenopausal women varied with ERα gene polymorphisms.

Association between Estrogen Receptor-α Gene XbaI and PvuII Polymorphisms and Periodontitis Susceptibility: A Meta-Analysis.

Background. Certain studies have previously explored the association between the estrogen receptor-α (ER-α) gene polymorphisms and periodontitis susceptibility, although the current results are controversial. The present study, using meta-analysis, aimed to investigate the nature of the genetic susceptibility of the ER-α for developing periodontitis. Methods. A comprehensive literature search of PubMed, Embase, CNKI, and Wanfang databases was conducted up to January 8, 2015. Statistical manipulation was performed using Stata version 13.0 software. Odds ratios (ORs) and corresponding 95% confident intervals (CIs) were calculated to estimate the association in five genetic models. Results. A total of 17 eligible case-control studies from seven identified publications consisting of nine studies for the XbaI polymorphism and eight studies for the PvuII polymorphism were included in the meta-analysis. We found elevated risk of periodontitis in XbaI XX genotype carriers. Moreover, subgroup analyses demonstrated increased risk for chronic periodontitis of XbaI XX genotype carriers, specifically in the Chinese Han female population. No significant association was observed between PvuII polymorphism and periodontitis. Conclusion. Current evidence indicated that the homozygote (XX) genotype of ER-α gene XbaI polymorphism, but not PvuII mutation, may increase the risk of chronic periodontitis, specifically in the Chinese Han female population.

The estrogen receptor α gene (XbaI, PvuII) polymorphisms and susceptibility to idiopathic scoliosis: a meta-analysis

Study design A genetic association meta-analysis of estrogen receptor α gene (ERα) polymorphisms with idiopathic scoliosis.Objective To determine whether the ERα gene polymorphisms correlate with idiopathic scoliosis.Summary of background data Idiopathic scoliosis represents a complex genetic trait under the influence of multiple predisposition genes. Several studies showed that single nucleotide polymorphism (SNP) in ERα was associated with idiopathic scoliosis, but the results from some studies were conflicting.Methods We searched PubMed, EMBASE, and Cochrane CENTRAL databases from January 1994 to January 2014. All the case–control studies included should mainly study the relationship between XbaI A/G, PvuII T/C polymorphisms and the susceptibility of idiopathic scoliosis.Results A total of 299 articles were found, six of which fulfilled the inclusion criteria after being assessed by two reviewers. A pooled odds ratio (OR) with 95 % confidence interval (95 % CI) was calculated to assess the associations. Subgroup meta-analyses were performed according to ethnicity. Overall, ERα Xbal A/G polymorphism was not associated with risk of idiopathic scoliosis (G versus A, OR 1.07, 95 % CI 0.88–1.30, P = 0.51; AG versus AA, OR 1.03, 95 % CI 0.89–1.21, P = 0.67; GG versus AA, OR 1.12, 95 % CI 0.72–1.73, P = 0.61; AG/GG versus AA, OR 1.05, 95 % CI 0.91–1.22, P = 0.49; GG versus AG/AA, OR 1.10, 95 % CI 0.75–1.63, P = 0.62). ERα PvuII T/C polymorphism was also not associated with risk of idiopathic scoliosis under five models (C versus T, OR 0.93, 95 % CI 0.75–1.14, P = 0.48; TC versus TT, OR 0.99, 95 % CI 0.80–1.23, P = 0.93; CC versus TT, OR 1.05, 95 % CI 0.80–1.39, P = 0.72; TC/CC versus TT, OR 1.01, 95 % CI 0.83–1.23, P = 0.93; CC versus TC/TT, OR 1.05, 95 % CI 0.82–1.33, P = 0.72).Conclusion ERα Xbal and ERα PvuII polymorphisms are not obviously associated with risk of idiopathic scoliosis.