Dataset Information

Prevalence of ER?-397 PvuII C/T, ER?-351 XbaI A/G and PGR PROGINS polymorphisms in Brazilian breast cancer-unaffected women.

ABSTRACT: Polymorphisms of hormone receptor genes have been linked to modifications in reproductive factors and to an increased risk of breast cancer (BC). In the present study, we have determined the allelic and genotypic frequencies of the ER?-397 PvuII C/T, ER?-351 XbaI A/G and PGR PROGINS polymorphisms and investigated their relationship with mammographic density, body mass index (BMI) and other risk factors for BC. A consecutive and unselected sample of 750 Brazilian BC-unaffected women enrolled in a mammography screening program was recruited. The distribution of PGR PROGINS genotypic frequencies was 72.5, 25.5 and 2.0% for A1A1, A1A2 and A2A2, respectively, which was equivalent to that encountered in other studies with healthy women. The distribution of ER? genotypes was: ER?-397 PvuII C/T: 32.3% TT, 47.5% TC, and 20.2% CC; ER?-351 XbaI A/G: 46.3% AA, 41.7% AG and 12.0% GG. ER? haplotypes were 53.5% PX, 14.3% Px, 0.3% pX, and 32.0% px. These were significantly different from most previously published reports worldwide (P < 0.05). Overall, the PGR PROGINS genotypes A2A2 and A1A2 were associated with fatty and moderately fatty breast tissue. The same genotypes were also associated with a high BMI in postmenopausal women. In addition, the ER?-351 XbaI GG genotype was associated with menarche ? 12 years (P = 0.02). ER? and PGR polymorphisms have a phenotypic effect and may play an important role in BC risk determination. Finally, if confirmed in BC patients, these associations could have important implications for mammographic screening and strategies and may be helpful to identify women at higher risk for the disease.

SUBMITTER: Giacomazzi J

PROVIDER: S-EPMC3854186 | biostudies-literature | 2012 Oct

REPOSITORIES: biostudies-literature

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Prevalence of ERα-397 PvuII C/T, ERα-351 XbaI A/G and PGR PROGINS polymorphisms in Brazilian breast cancer-unaffected women.

Giacomazzi J J Aguiar E E Palmero E I EI Schmidt A V AV Skonieski G G Filho D D DD Bock H H Saraiva-Pereira M L ML Ewald I P IP Schuler-Faccini L L Camey S A SA Caleffi M M Giugliani R R Ashton-Prolla P P

Brazilian journal of medical and biological research = Revista brasileira de pesquisas medicas e biologicas 20120517 10

Polymorphisms of hormone receptor genes have been linked to modifications in reproductive factors and to an increased risk of breast cancer (BC). In the present study, we have determined the allelic and genotypic frequencies of the ERα-397 PvuII C/T, ERα-351 XbaI A/G and PGR PROGINS polymorphisms and investigated their relationship with mammographic density, body mass index (BMI) and other risk factors for BC. A consecutive and unselected sample of 750 Brazilian BC-unaffected women enrolled in a ...[more]

PMID: 22584640

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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.

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: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.

Dataset Information

Prevalence of ER?-397 PvuII C/T, ER?-351 XbaI A/G and PGR PROGINS polymorphisms in Brazilian breast cancer-unaffected women.

Publications

Prevalence of ERα-397 PvuII C/T, ERα-351 XbaI A/G and PGR PROGINS polymorphisms in Brazilian breast cancer-unaffected women.

Similar Datasets

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