Dataset Information

Association between estrogen receptor-alpha gene PvuII and XbaI polymorphisms and osteoarthritis risk: a meta-analysis.

ABSTRACT: Estrogen receptor-alpha (ER-?) gene PvuII (T/C) and XbaI (A/G) polymorphisms have been hypothesized to be associated with osteoarthritis (OA) risk by several epidemiological studies, however, the available results were inconclusive and conflicting. We conducted a meta-analysis of 10 case-control studies that included 3328 osteoarthritis cases and 6390 case-free controls. We assessed the strength of the association, using odds ratios (ORs) with 95% confidence intervals (CIs). This meta-analysis showed that the ER-? PvuII and XbaI polymorphisms were not associated with OA risk in overall population. For the PvuII (T/C) polymorphism, however, in the subgroup analysis by country, a significantly reduced risk was observed among Chinese (TC vs. CC: OR = 0.73, 95% CI 0.54-0.99, I (2) = 0%, P heterogeneity = 0.498; dominant model, OR = 0.73, 95% CI = 0.55-0.98, I (2) = 0%, P heterogeneity = 0.555). For the XbaI (A/G) polymorphism, when stratifying by sample size, a significantly elevated risk was found in sample size ? 500 (AA vs. GG: OR = 2.60, 95% CI 1.10-6.18, I (2) = 42.9%, P heterogeneity = 0.135; dominant model: OR = 2.04, 95% CI 1.12-3.71, I (2) = 11.4%, P heterogeneity = 0.341; and recessive model: OR = 1.69, 95% CI 1.12-2.55, I (2) = 40.2%, P heterogeneity = 0.154). No publication bias was found in the present study. This meta-analysis suggests that ER-? PvuII (T/C) polymorphism may be associated with a reduced OA risk among Chinese and the XbaI (A/G) polymorphism may not be associated with OA risk, while the observed increase in OA risk for XbaI polymorphism may be due to small-study bias.

SUBMITTER: Hu W

PROVIDER: S-EPMC4402771 | biostudies-literature | 2015

REPOSITORIES: biostudies-literature

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Association between estrogen receptor-alpha gene PvuII and XbaI polymorphisms and osteoarthritis risk: a meta-analysis.

Hu Wei W Shuang Feng F Zou Hong-Xing HX Yang Huai-He HH

International journal of clinical and experimental medicine 20150215 2

Estrogen receptor-alpha (ER-α) gene PvuII (T/C) and XbaI (A/G) polymorphisms have been hypothesized to be associated with osteoarthritis (OA) risk by several epidemiological studies, however, the available results were inconclusive and conflicting. We conducted a meta-analysis of 10 case-control studies that included 3328 osteoarthritis cases and 6390 case-free controls. We assessed the strength of the association, using odds ratios (ORs) with 95% confidence intervals (CIs). This meta-analysis s ...[more]

PMID: 25932124

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Project description:Genetic factors are important in the pathogenesis of Premature ovarian failure (POF). Notably, estrogen receptor-a (ESR1) has been suggested as a possible candidate gene for POF; however, published studies of ESR1 gene polymorphisms have been hampered by small sample sizes and inconclusive or ambiguous results. The aim of this meta analysis is to investigate the associations between two novel common ESR1 polymorphisms (intron 1 polymorphisms PvuII-rs2234693: T.C and XbaI-rs9340799: A.G) and POF.A comprehensive search was conducted to identify all studies on the association of ESR1 gene polymorphisms with POF up to August 2014. Pooled odds ratio (OR) and corresponding 95 % confidence interval (CI) were calculated using fixed-or random-effects model in the meta-analysis.Three studies covering 1396 subjects were identified. Pooled data showed significant association between ESR1 gene PvuII polymorphism and risk of POF: [allele model: Cvs. T, OR?=?0.735, 95%CI: 0.624?~?0.865, p?=?0.001; co-dominant models: CCvs.TT, OR?=?0.540, 95%CI: 0.382?~?0.764, p?=?0.001, CTvs.TT, OR?=?0.735, 95%CI: 0.555?~?0.972, p?=?0.031; dominant model: CT?+?CCvs.TT, OR?=?0.618, 95%CI: 0.396?~?0.966, p?=?0.035; recessive model: CCvs.TT?+?CT, OR?=?0.659, 95%CI: 0.502?~?0.864, p?=?0.003]. Subgroup analyses showed a significant association in all models in Asian population, but no significant association in any model in European population. For the XbaI polymorphism, overall, no significant association was observed under any genetic models. However, under dominant model, ESR1 gene XbaI polymorphism is significantly association with risk of POF in Asian population.The present meta-analysis suggests that ESR1gene PvuII polymorphism is significantly associated with an increased risk of POF. And ESR1gene XbaI polymorphism is not association with risk of POF overall. However, under dominant model, ESR1gene XbaI polymorphism is significantly association with risk of POF in Asian population. Further large and well-designed studies are needed to confirm the association.

Project description:IntroductionXbaI single nucleotide polymorphism (SNP) (A/G rs934099) in estrogen receptor 1 gene (ESR1) was described to be associated with curve severity in Japanese idiopathic scoliosis (IS) patients and in Chinese patients with both curve severity and predisposition to IS. PvuII SNP (C/T rs2234693) of ESR1 was described to be associated with the occurrence of IS in the Chinese population; however, two replication studies did not confirm the findings. The ESR1 SNPs have never been studied in Caucasian IS patients.MethodsCase-control study. 287 females with IS underwent clinical, radiological and genetic examinations. The patients were divided into three groups according to curve progression velocity: non-progressive IS, slowly progressive IS (progression <1° per month), and rapidly progressive IS (progression ?1° per month). The radiological maximum Cobb angle was measured and surgery rate established. A control group consisted of 182 healthy females.ResultsAll results followed Hardy-Weinberg equilibrium. In the case-control study, genotype frequency in the patients did not differ for the XbaI (AA?=?33.5%, AG?=?49.1%, GG?=?17.4%), nor for the PvuII (TT?=?26.8%, TC?=?50.2%, CC?=?23.0%) comparing to controls (AA?=?33.5%, AG?=?50.5%, GG?=?15.9%) and (TT?=?23.1%, TC?=?51.1%, CC?=?25.8%), respectively, p?=?0.3685, p?=?0.6046. The haplotype frequency for the patients (AT?=?47.1%, GC?=?39.2%, AC?=?8.9%, GT?=?2.8%) did not differ from the controls (AT?=?44.8%, GC?=?37.4%, AC?=?14.0%, GT?=?3.8%), p?=?0.0645. No difference was found either in XbaI (p?=?0.8671) or PvuII (p?=?0.3601) allele distribution between the patients and the controls. In the case study, there was no significant difference in genotype frequency for the non-progressive, slowly progressive, and rapidly progressive scoliosis. No difference was found in genotype or haplotype distribution for the mean maximum Cobb angle or the surgery rate.ConclusionsNo association was found between ESR1 XbaI or ESR1 PvuII SNP and idiopathic scoliosis in Caucasian females. None of the previously reported associations could be confirmed, regarding curve severity, progression or operation rate.

Project description:BackgroundType 2 diabetes mellitus (T2DM) is a multifactorial disease where both genetic and environmental factors contribute to its pathogenesis. The PvuII and XbaI polymorphisms of the estrogen receptor 1 (ESR1) gene have been variably associated with T2DM in several populations. This association has not been studied in the Palestinian population. Therefore, the aim of this study was to investigate the association between the PvuII and XbaI variants in the ESR1 and T2DM and its related metabolic traits among Palestinian women.MethodsThis case-control study included 102 T2DM and 112 controls in which PvuII and XbaI variants of the ESR1 gene were genotyped using amplicon based next generation sequencing (NGS).ResultsAllele frequencies of both PvuII and XbaI variants were not significantly different between patients and control subjects (P > 0.05). In logestic regression analysis adjusted for age and BMI, the ESR1 PvuII variant was associated with risk of T2DM in three genotypic models (P < 0.025) but the strongest association was observed under over-dominant model (TT+CC vs. TC) (OR = 2.32, CI [1.18-4.55] adjusted P = 0.013). A similar but non-significant trend was also observed for the ESR1 XbaI variant under the over-dominant model (AA+GG vs. AG) (OR = 2.03, CI [1.05-3.95]; adjusted P = 0.035). The frequencies of the four haplotypes (TA, CG, CA, TG) were not significantly different in the T2DM patients compared with control group (P > 0.025). Among diabetic group, an inverse trend with risk of cardio vascular diseases was shown in carriers of CG haplotype compared to those with TA haplotype (OR = 0.28, CI [0.09-0.90]; adjusted P = 0.035). Further, stratified analyses based on ESR1 PvuII and XbaI genotypes revealed no evidence for association with lipid levels (TC, TG, HDL, LDL).ConclusionsThis is the first Palestinian study to conclude that ESR1 PuvII and XbaI variants may contribute to diabetes susceptibility in Palestinian women. Identification of genetic risk markers can be used in defining high risk subjects and in prevention trials.

Dataset Information

Association between estrogen receptor-alpha gene PvuII and XbaI polymorphisms and osteoarthritis risk: a meta-analysis.

Publications

Association between estrogen receptor-alpha gene PvuII and XbaI polymorphisms and osteoarthritis risk: a meta-analysis.

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