XbaI Polymorphisms Research Articles

Clinical variables related to the ApoB polymorphism in patients undergoing bariatric surgery

The aim of this study was to assess whether biochemical, biological, and anthropometric characteristics are related to the XbaI polymorphism of APOB in obese patients aged 50+, as well as to verify susceptibility to health impairment. This research is a cross-sectional, comparative, analytical study with both quantitative and qualitative approaches, consisting of 21 elderly women aged 50 years or older who underwent Roux-en-Y- gastric bypass surgery one year ago. Clinical data and blood samples were collected 12 months after surgery, and genotyping was performed using the PCR-RFLP technique. The data indicated that there was no statistical association between the presence of the polymorphism and morbid obesity (P=0,302); however, it was found that the X+ alelle leads to reduced median of adipose mass in patients (P=0,031).

Association between Apo B, LDL-R and PCSK9 gene polymorphisms with coronary artery diseases in Egyptians.

Many studies have focused on the significance of lipid regulatory genes in the pathophysiology of Coronary artery disease (CAD). ApoB XbaI (rs693) and EcoRI (rs1042031) single nucleoid polymorphisms (SNPs) were investigated to detect whether they are risk factors for CAD. Till now, this association remains uncertain. SMARCA4 (rs1122608) SNP has directly related to dyslipidemia. Loss of function mutations (LOF) in PCSK9 result in a reduction in LDL cholesterol and are associated with protection from the development of CAD. This study was conducted on 54 CAD patients who were admitted at Internal Medicine Specialized Hospital (Cardiology Department) and 47 healthy controls. Peripheral blood samples were taken from both groups. DNA was extracted from EDTA-blood samples, then PCR- RFLP for ApoB XbaI (rs693) and EcoRI (rs1042031), SMARCA4 (rs1122608) and PCSK9 (rs505151) SNPs was done. No statistically significant difference was found between patients and controls as regard EcoRI SNP. XbaI (rs693) X + X + genotype was significantly higher in control group (P = 0.0355). SMARCA4 (TT, GT + TT) genotypes, and T allele (P < 0.001); PCSK9 AG genotype and G allele (P = 0.027 and 0.032 respectively) were more frequent in CAD patients than controls. SMARCA4 (rs1122608) and PCSK9 (rs505151) SNPs are significantly accompanying with the risk of CAD development in the Egyptian population. X + X + genotype appeared to have a protective effect against CAD. However, no observed association between EcoRI (rs1042031) and the risk of CAD development was found.

Association between estrogen receptor alpha and aryl hydrocarbon receptor gene polymorphisms in the prognosis of breast cancer in Egypt

Breast cancer is the most malignant tumor among women in the world. Single nucleotide polymorphisms (SNPs) might better predict breast cancer prognosis. PvuII (T/C substitution), XbaI (A/G substitution), and aryl hydrocarbon (AhR) (G/A substitution) were evaluated as possible genetic prognostic factors for breast cancer. The aim of the current study was to assess the relation between PvuII (rs2234693), XbaI (rs9340799), and aryl hydrocarbon receptor gene polymorphisms AhR (rs2066853) in breast cancer prognosis. This was a case-control study that included 120 breast cancer patients classified into two groups. The first group included 60 patients with good prognostic factors, and the second group included 60 patients with poor prognostic factors. Blood samples were taken from all study participants to perform the genotyping assay. We found that positive genotypes of PvuII, XbaI, and AhR polymorphisms were strongly associated with better prognostic factors for breast cancer patients, while negative genotypes of PvuII and XbaI were more and significantly prevalent in poor prognostic breast cancer patients. We conclude that PvuII T/C, XbaI G/A, and AhR G/A alleles may be prognostic for breast cancer progression. ‎

Association of Estrogen Receptor 1 PvuII and XbaI Polymorphisms and Peripheral Estrogen Receptor 1 mRNA Levels with Alzheimer’s Disease in Turkish Patients

Association of Estrogen Receptor 1 PvuII and XbaI Polymorphisms and Peripheral Estrogen Receptor 1 mRNA Levels with Alzheimer’s Disease in Turkish Patients

An Association Study of ESR1–XbaI and PvuII Gene Polymorphism in Migraine Susceptibility in the Jammu Region

Introduction: Migraine is a neurovascular disorder and is clinically characterized by episodic attacks of mild to severe headaches. Due to the involvement of multiple environmental and genetic factors, it has become a much more complex neurological condition to understand. Apart from the environmental variables, a plethora of genes have been implicated, and one such example is ESR1. The present study was focused to find out the association of two important polymorphisms, namely, PvuII and XbaI of the ESR1 with migraine in the population of Jammu and Kashmir (UT). Methods: The PCR-RFLP genotyping method was utilized to detect PvuII and XbaI polymorphism, and the result was confirmed by statistical analysis. Results: Although we did not find a signification association of ESR-PvuII polymorphism with migraine susceptibility {OR: 1.14 at 95% CI [0.76–1.71] (p value 0.5)}, a strong association was found with the clinical subtype of migraine; migraine with aura (MA) {OR: 2.014 at 95% CI [1.069–3.792] (p value 0.028)}. Furthermore, a significant association of ESR-XbaI polymorphism was observed with migraine {OR: 1.908 at 95% CI [1.252–2.907] (p value 0.002) and its both clinical subtypes; migraine without aura (MO) {OR: 1.870 at 95% CI [1.186–2.950] (p value 0.006)} and MA {OR: 2.014 at 95% CI [1.069–3.792] (p value 0.028)}. Conclusion: In conclusion, ESR1-XbaI polymorphism is significantly associated with migraine risk including both subtypes (MA and MO) in the North Indian population of Jammu.

Association of ESR1 and ESR2 Polymorphisms with Osteoporosis: A Meta-Analysis from 36 Studies

Background: Recently, the roles of ESR1 and ESR2 polymorphisms in osteoporosis have been extensively reported, with conflicting findings. Therefore, we performed this present study to evaluate the potential associations between ESR1 and ESR2 polymorphisms and osteoporosis risk. Methodology: All included literatures published up to April 2021 were identified by searching Pubmed, Embase, Web of Science, Cochrane Library, Chinese National Knowledge Infrastructure (CNKI) and Wanfang databases. Pooled odds ratio (OR) and 95% confidence interval (CI) were calculated the associations using a fixed or random effects model. Results: 36 observational studies involving five gene polymorphisms (ESR1 PvuII, ESR1 XbaI, ESR1 G2014A, ESR2 AluI and ESR2 RsaI) covering 12507 cases and 18487 controls were included. The results of our meta-analysis demonstrated the variant A allele of ESR2 RsaI polymorphism might play a remarkable protective role in developing osteoporosis under all genetic models. However, no associations were observed between ESR1 PvuII, ESR1 XbaI, ESR1 G2014A and ESR2 AluI polymorphisms with the risk of osteoporosis under all genetic models. Conclusions: Our meta-analysis suggests that genetic polymorphism in ESR2 RsaI may lead to decreased risk for osteoporosis. Further larger studies are needed to confirm this conclusion.

Association of XbaI polymorphism of ApoB gene with lipid profile, risk factors and dietary pattern in coronary artery disease Egyptian rural and urban patients

Background: Coronary artery disease (CAD) is a complex disorder. It is thought to be a result of gene-gene and gene-environment interactions. It was reported that XbaI polymorphism of ApoB gene is associated with CAD. However, the results were conflicting and risk factors were not fully studied in the previous studies. Aim: It was to estimate the association of XbaI polymorphism of ApoB gene with lipid profile, risk factors and dietary pattern in CAD Egyptian population. Subjects and Methods: This study was conducted on 400 Egyptians (200 healthy subjects; 100 Rural and 100 Urban controls and 200 CAD patients; 100 Rural and 100 Urban patients). CAD patients were diagnosed on the bases of clinical and angiographic assessment. Polymerase chain reaction – Restriction Fragment Length Polymorphism (PCR-RFLP) was used to genotype ApoB XbaI polymorphism of ApoB gene. Results: The ApoB XbaI X+X+ genotype frequency was higher in urban control versus urban CAD subgroups. Multivariate analysis revealed that male gender, hypertension, smoking, increased body mass index (BMI), high serum total cholesterol (TC), low serum high density lipoprotein cholesterol (HDL-C) and high score of unhealthy diet were associated with CAD increased risk, while high score of healthy diet was protective.

PB2330: CORONARY ARTERY DISEASE (CAD) AND XBAI GENE POLYMORPHISM (RS693) IN EGYPTIAN PATIENTS

Background: Coronary artery disease (CAD) is a multifactorial disease leading to coronary arteries occlusion in the form of ischemic heart events. Although cardiovascular diseases (CVD) mortality have been decreasing in the developed countries along the last decade, it is still rising in the developing countries(Popkin, Adair, & Ng, 2012).Egypt has the largest population in middle east and north Africa with significant high CAD mortality rate. In 2014, about 23.14% of all deaths in Egypt were caused by CAD. This made Egypt ranked 23rd in the world(El-Moselhy et al., 2018; Ralapanawa & Sivakanesan, 2021). Aims: To determine the relationship between the presence of XbaI gene polymorphisms and coronary arteries occlusion in Egyptian CAD patients. Methods: This is a case-control study conducted on 200 CAD Subjects (153 men and 47 women) with a median age of 57.5 ± 8.73 years old and 200 control subjects (127 men and 73 women) with a median age of 56.06 ± 6.56 years. The patients were selected from Mansoura University Hospitals clinics. DNA was extracted from leukocytes using spin column (Qiagen Co. Germany). DNA sequence containing Apo B gene was amplified by PCR using set of primers (Metabion, Germany). The amplified sequence was digested at 37 C with 20 U of XbaI restricton enzyme. Digests were run on 2 % agarose gel at 50 V in 1X Tris–borate- EDTA (TBE) buffer. It resulted in fragments of 741 and 201 bp in the presence of the restriction site (X+ allele). In the absence of the XbaI cutting site, the only produced band on the agarose gel was the 942 bp sequence. Results: X+X- genotype of XbaI (rs693) polymorphism was the most common among patients (48.5%) and controls (44%). There were no significant difference regarding genotypes and alleles of both studied polymorphisms between CAD group and controls. However, X+X+ genotype of XbaI (rs693) polymorphism had non-significant increase (approaching significance) in controls compared to CAD (P=0.056). No significant differences were found between multivessel CAD patients versus single vessel CAD patients regarding genotypes and alleles of XbaI (rs693), however non-significant higher frequency of X+X+ genotype were found in single vessel vs. multi-vessel CAD patients (12.8 vs. 8.4%; OR=0.645). Image:Summary/Conclusion: XbaI ApoB gene polymorphisms showed no significant difference between CAD and control groups in the studied Egyptian patients. There is also no significant difference between uni-vessel and multi-vessel patients groups.

Association Between ESR1 XBAI and Breast Cancer Susceptibility: A Systematic Review and Meta-Analysis.

Estrogen receptor 1 (ESR1) XbaI polymorphisms may affect breast cancer susceptibility; however, the results of previously published studies are inconsistent. This meta-analysis aimed to investigate the relationship between ESR1 XbaI polymorphism and breast cancer risk. Methods: Articles from the PubMed, Embase, Cochrane Library, WoS, Scopus, Wanfang Data, CNKI, CBM and CQVIP databases were systematically searched to determine the association between ESR1 XbaI polymorphism and breast cancer risk. The pooled results were assessed using odds ratios (ORs) and 95% confidence intervals (CIs), followed by subgroup analysis. Results: Twenty-two studies involving 12,821 cases and 14,739 control subjects were analyzed. The pooled results indicated that ESR1 XbaI polymorphism may decrease risk of breast cancer in AG vs. AA (co-dominant model: OR = 0.88, 95% CI = 0.79-0.97, P = 0.015) and AG + GG vs. AA models (dominant model: OR = 0.89, 95% CI = 0.80-0.98, P = 0.022). Subgroup analysis indicated significant associations between the ESR1 XbaI polymorphism and breast cancer risk were observed in Asian subjects, non-Hardy-Weinberg equilibrium study, post-menopausal status and hospital-based subgroups under the AG vs. AA and AG + GG vs. AA models (all P < 0.05). Conclusions: Our analysis of pooled data indicated that AG genotype in ESR1 XbaI may be a protective factor for breast cancer patients in some subgroups.

Association of Polymorphisms in Estrogen Receptor Genes (ESR1 and ESR2) with Osteoporosis and Fracture-Involvement of Comorbidities and Epistasis.

Single-nucleotide polymorphisms (SNPs) in the ESR1/ESR2 genes play a role in osteoporosis (OP). Our objective was to determine associations of polymorphisms in ESR genes with OP and fracture, SNP-SNP interactions, and involvement of comorbidities. We analyzed 170 Mexican osteoporotic women (FNOP), 173 with hip fracture (HFx), and 210 controls. The SNPs, ESR1 rs2234693CC, rs851982CC and rs1999805AA, were associated with reduced OP risk (odds ratios [ORs] = 0.35, 0.40 and 0.32, respectively; p < 0.05); rs2234693CC was associated with reduced fracture risk (OR = 0.24; p < 0.05). The obese/overweight carriers of rs9340799GG had a lower OP (OR = 0.15, p = 0.016) and fracture (OR = 0.12, p = 0.0057) risk. The rs9479055AA and rs3020404AA hypertensive carriers had a higher OP risk (OR = 5.96, p = 0.032; and OR = 5.29, p = 0.02, respectively). In addition, rs3020404AA had a higher risk of fracture (OR = 4.90, p = 0.045). The rs2228480GG hypertensive carriers had a higher risk of fracture (OR = 6.22, p = 0.0038). We found a synergic relation between the ESR1 rs3020331 and rs1999805 in femoral neck OP and HFx. The rs2234693 (PvuII) and rs9340799 (XbaI) polymorphisms are associated with a high risk forming a haplotype. The epistasis analysis suggests the contribution of both genes (ESR1/ESR2) to the risk of OP and fracture. Epistasis and involvement of obesity and hypertension lead to a significant modification of the risk.

Study of Xbal and Pvull polymorphisms of estrogen receptor alpha (ERα) gene in girls with precocious/early puberty.

Studies examining association of estrogen receptor alpha (ERα) polymorphisms with early puberty are scarce and results are controversial; data in Caucasian girls are lacking. Main objective was to determine association of Xbal and Pvull polymorphisms of ERα gene in Greek girls with precocious/early puberty METHODS: We studied 107 girls with idiopathic precocious/early puberty and 81 young women with pubertal maturation within normal age (controls). Pubertal stage, height SDS (HSDS), and BMI z-score were determined in patients. In controls, height was measured and menarcheal age was self-reported. All participants in the study were genotyped for XbaI and PvuII polymorphisms of the ERα gene. There was no significant difference in XbaI and PvuII polymorphisms between patients and controls. Homozygous, xx and pp, girls had an earlier onset of puberty, although non-significant, than heterozygous or with no polymorphisms p = 0.9; in girls with pubertal onset <7 years, the association tended to become significant, p = 0.09. Girls with xxpp genotype were significantly taller, HSDS 1.63, p = 0.014. In controls, homozygosity for Xbal (xx) and PvuII (pp) was associated with significantly earlier menarche than in women with no polymorphism, p = 0.013 and p = 0.026, respectively, and xxpp genotype was associated with taller adult height, p = 0.017. XbaI and PvuII polymorphisms are not related to idiopathic precocious/early puberty. Early pubertal girls homozygous for both polymorphisms presented earlier onset of puberty, although statistically non-significant, and taller height than girls heterozygous or without these polymorphisms. Homozygosity for both polymorphisms is associated with earlier menarche and taller adult height.

Association of apolipoprotein B XbaI (rs693) polymorphism and gallstone disease risk based on a comprehensive analysis

BackgroundOur aim was to investigate the association between XbaI gene polymorphisms in the apolipoprotein B (APOB) gene and gallstone disease (GD) risk through a comparison of the allele and genotype distribution frequencies at this site using meta-analysis.MethodsA literature search was performed using PubMed and Wanfang through Jun 1, 2020. Odds ratios (ORs) and 95 % confidence intervals (CIs) were used to assess the strength of associations.ResultsAfter a comprehensive search, 14 different articles that met the inclusion criteria were selected, with 1583 cases and 1794 controls. Individuals carrying the A-allele or AA genotype of the rs693 polymorphism were determined to possibly have an increased risk of GD. For example, there was a significant relationship between the rs693 polymorphism and increased GD risk in the whole group (OR: 1.40, 95 % CI: 1.05–1.87 in the allelic contrast model), the Asian population (OR: 1.58, 95 % CI: 1.48–2.84 in the heterozygote model), and the hospital-based source of the control (OR: 1.79, 95 % CI: 1.13–2.84 in the dominant model).ConclusionsThis study suggests that the APOB rs693 polymorphism is potentially associated with GD susceptibility, which might offer a detection marker for use in future large scale clinic research.

Association between apolipoprotein gene polymorphisms and hyperlipidemia: a meta-analysis

BackgroundHyperlipidemia plays an important role in the etiology of cardio-cerebrovascular disease. Over recent years, a number of studies have explored the impact of apolipoprotein genetic polymorphisms in hyperlipidemia, but considerable differences and uncertainty have been found in their association with different populations from different regions.ResultsA total of 59 articles were included, containing in total 13,843 hyperlipidemia patients in the case group and 15,398 healthy controls in the control group. Meta-analysis of the data indicated that APOA5–1131 T > C, APOA1 -75 bp, APOB XbaI, and APOE gene polymorphisms were significantly associated with hyperlipidemia, with OR values of 1.996, 1.228, 1.444, and 1.710, respectively. All P-values were less than 0.05.ConclusionsMeta-analysis of the data indicated that the C allele of APOA5 1131 T > C, the A allele at APOA1-75 bp, the APOB XbaI T allele, and the ε2 and ε4 allele of APOE were each a risk factor for susceptibility for hyperlipidemia.

ИССЛЕДОВАНИЕ ПОЛИМОРФНЫХ ВАРИАНТОВ ГЕНОВ TNF-α И ER1 У ДЕТЕЙ, БОЛЬНЫХ АТОПИЧЕСКОЙ БРОНХИАЛЬНОЙ АСТМОЙ

Bronchial asthma (BA) is a multifactorial disease, genetic factors play an important role in its etiopathogenesis. At the same time, data on associations of polymorphic variants of the estrogen receptor gene with BA are quite contradictory. Objective of this research was to study the peculiarities of allele polymorphism frequencies of ER1 and TNF-α genes and their combinations in patients with atopic BA depending on the disease severity. Materials and methods: in the course of a retrospective single-center comparative pilot study by PCR/RFLP analysis, the frequencies of alleles and genotypes for the ER1 and TNF-α genes were determined in 78 prepubertal children (9 [6–13] years) with atopic BA. The population comparison group included 115 people. Results: the study revealed that in BA patients with moderate severity, genotypes Xx (48% and 14%; OR=6,067 CI=[1,653–22,268]), and Pp (94% and 47%, respectively; OR=18,074 CI=[2,319–140,854]) of the ER1 gene were statistically significantly more common than in the comparison group. A statistically significant difference was found in the distribution of genotype combinations for the XbaI and PvuII polymorphisms of the ER1 and –308A genes&gt;G of TNF-α gene polymorphism in patients with BA and in the comparison group (2=31,761, p=0,0043). The frequency of the combined a-PpXx genotype in BA patients was higher than in the comparison group (22% and 3%, OR=11,09, p&lt;0,0001). Conclusion: associations were found between the severity of BA and the genotype of the ER1 gene. The revealed absence of associations of polymorphism of the ER1 gene and BA with gender is probably due to the fact that we observed the direct influence of genetic factors without the influence of hormonal background.

Effect of interactions between APOE and ESR1 polymorphisms on cognitive functions in postmenopausal women.

IntroductionDuring menopause the level of estrogens is decreased, which may lead to cognitive impairment or dementia. Some forms of genetic polymorphism were found to be related to cognitive functions, including APOE and ESR1 (PvuII and XbaI) polymorphisms. In the present study we aimed to analyze the impact of interactions between APOE and ESR1 polymorphisms on cognitive functions in the group of postmenopausal women.Material and methodsThe study group consisted of 266 postmenopausal women aged 50–65 years without symptoms of dementia. A computerized battery of the Central Nervous System Vital Signs (CNS VS) test was used to diagnose cognitive functions. APOE and ESR1 polymorphisms were genotyped using multiplex PCR and PCR-RFLP methods, respectively. Statistical analysis was performed using two-way analysis of variance in Statistica software.ResultsThe best memory, visual memory, processing and psychomotor speeds were found in women carrying the C allele of the PvuII polymorphism (TC + CC genotypes) in the presence of the APOE ε2/ε3 genotype, while a lower outcome was noted in women with ε3/ε3, and the lowest if they had the ε4 allele. In the case of women with TT genotype of the PvuII polymorphism, cognitive functioning did not decrease in women with the ε4 allele. A similar effect on cognitive functions was observed for AG + GG genotypes of the XbaI and APOE polymorphisms. Women who simultaneously carried CC PvuII and GG XbaI genotypes had the lowest cognitive functions.ConclusionsInteractions of polymorphic variants of APOE and ESR1 genes influenced cognitive functions in postmenopausal women.

Estrogen receptor α polymorphism is associated with dementia in a Brazilian cohort.

The growth of the elderly population is a worldwide phenomenon and it is associated with chronic diseases, including dementia. In this scenario, the present study aimed to evaluate a possible association of estrogen receptor α polymorphisms with dementia in a Brazilian cohort. The subject sample was divided into two groups, control (n = 105) and case (n = 73), according to analysis of two predictive dementia tests (MMSE and CDR). The genotyping for the ERα PvuII (c.454-397T>C, rs2234693) and XbaI (c.454-351A>G, rs9340799) polymorphisms were performed by polymerase chain reaction-restriction fragment length polymorphism. The ERα PvuII pp genotype was associated with higher odds ratio for dementia (OR = 3.42, 95% CI = 1.33–8.77, p = 0.01, in a model including covariates. A linear regression model identified significant associations of the ERα PvuII genotypes (independent variable) with CDR scale (dependent variable), β = 0.26 and p = 0.001. In conclusion, estrogen receptor α PvuII polymorphism is associated with dementia in a Brazilian cohort. This finding may be useful for the identification of a possible set of significant genetic and clinical biomarkers for better understanding pathophysiology, early diagnosis and management of dementia.

Association between apolipoprotein B XbaI polymorphisms and coronary heart disease: A meta-analysis

BackgroundTo evaluate the association between apolipoprotein B gene polymorphism and coronary heart disease in some populations at home and abroad by means of meta-analysis.MethodsUsing the strict exclusion criteria for primary screening of the literature and applying the Hardy-Weinberg equilibrium to test the genetic balance of the selected literature. The corresponding models were selected according to the results of the heterogeneity test. The Begg’s test and Egger’s test were used to evaluate publication bias, and meta-analysis was performed using Stata 12.0.ResultsThe study included twelve articles. In the literature, a total of 1596 patients with coronary heart disease and 1431 controls.Meta-analysis results showed no statistical value in the following three genetic models: allelic comparison (a vs A,P = 0.811,OR = 0.95, 95%CI = 0.62–1.46), recessive genetic models (aa vs Aa/AA, P = 0.86,OR = 0.94, 95%CI = 0.45–1.96), or dominant genetic models (aa/Aa vs AA, P = 0.73,OR = 0.92, 95%CI = 0.58–1.47). Subgroup analysis based on ethnicity showed allelic comparison (a vs A,P = 0.464,OR = 1.32, 95%CI = 0.63–2.78), recessive genetic models (aa vs Aa/AA, P = 0.422,OR = 1.52, 95%CI = 0.55–4.21), and dominant genetic models (aa/Aa vs AA, P = 0.551,OR = 1.26, 95%CI = 0.58–2.73) in Asians, allelic comparison (a vs A,P = 0.410,OR = 0.79, 95%CI = 0.45–1.39), recessive genetic models (aa vs Aa/AA, P = 0.041,OR = 0.75,95%CI = 0.57–0.99),dominant genetic models (aa/Aa vs AA, P = 0.385,OR = 0.75, 95%CI = 0.40–1.43) in Caucasian;ConclusionThe ApoB(apolipoprotein B) XbaI locus is not a risk factor when it comes to the development of coronary heart disease in the domestic and international populations included in this paper. In Caucasians, people carrying the aa genotype may be less susceptible to CHD (coronary heart disease). The results of recessive genetic models have to take the effect of heterogeneity and sample sizes into account. Further research may require a larger and more rigorous research design.

Alpha estrogen receptor polymorphisms and their association with breast density.

In the development of breast cancer (BC), estrogen exposure and the increase in breast density (BD) are two determinant factors for BC risk. To identify the relationship between the XbaI and PvuII polymorphisms in the estrogen receptor (ER-alpha) with BD. Cross-sectional study which included 225 women, aged 40-65 years, without evident cancer data, who underwent routine mammography for early BC diagnosis in a radiology department. Two groups were formed: women with increased and with normal BD. Participants were genotyped for the XbaI and PvuII polymorphisms. 19.1% had normal weight, 37.7% overweight, and 43.2% were obese women. In relation to high-risk patterns, 105 women had increased BD and 120 had normal BD (53.3%). The frequency of women with increased BD was also lower in postmenopausal women. Regarding the type of BD, there was no statistically significant difference between frequencies of PvuII and XbaI genotypes. Logistic regression showed that only age and body mass index (BMI) were associated with BD. PvuII and XbaI ER-alpha genotypes were similar among women with dense and non-dense breasts; differently, other factors were associated with BD (age, BMI and menopausal status). Therefore, emphasis should be placed on clinical practice in the relationship between BMI and BD.

PvuII and XbaI in Estrogen Receptor 1 (ESR1) Polymorphisms and Susceptibility to Endometriosis Risk.

Studies have shown that variants in PvuII and XbaI loci are associated with the occurrence and progression of endometriosis (EM), while the results were in great debate. A systematic review and meta-analysis were conducted to evaluate the role of PvuII and XbaI polymor-phisms in estrogen receptors (ESR1). The primary sources of the reviewed studies through December 2018, with restriction on the language of English and Chinese, were Pubmed and Embase and CNKI. The pooled odds ratio 95% confidence intervals (CIs) were calculated to evaluate the associations of Pvull and Xbal polymorphisms with the risk of EM by using the STATA 14.0 software. A total of 18 studies with 4,975 patients, 2,222 in the case group, 2,753 in the control group, were in the final analysis. Overall pooled outcomes did not indicate significant correlations between the ESR1 Pvull/Xbal polymorphisms and the EM development. In subgroup analysis, PvuII was associated with endometriosis only for stage I - III and only under a recessive model (OR = 1.61, 95% CI: 1.03 to 2.07; p = 0.03). Xbal was associated with endometriosis only for the non-PCR-RFLP genotype method and also only under a recessive model (OR = 2.10, 95% CI: 1.21 to 4.47; p = 0.04). This present meta-analysis reported that polymorphisms of PvuII or Xbal were not related to the susceptibility to EM except for a slight association of stage I-III endometriosis and non-PCR-RFLP under recessive model. Future, well-designed large studies are eagerly awaited to confirm our conclusions.

ESTROGEN RECEPTOR 1 POLYMORPHISMS (PVUII AND XBAI) AND TEMPOROMANDIBULAR JOINT INTERNAL DERANGEMENT SUSCEPTIBILITY IN A GROUP OF TURKISH PATIENTS

Ponte Academic JournalFeb 2020, Volume 76, Issue 2 ESTROGEN RECEPTOR 1 POLYMORPHISMS (PVUII AND XBAI) AND TEMPOROMANDIBULAR JOINT INTERNAL DERANGEMENT SUSCEPTIBILITY IN A GROUP OF TURKISH PATIENTSAuthor(s): Ayca Dilara YILMAZJ. Ponte - Feb 2020 - Volume 76 - Issue 2 doi: 10.21506/j.ponte.2020.2.16 Abstract:Aims: Temporomandibular joint internal derangement (TMJ-ID) is the impairment of the metabolic processes in the extracellular matrix of the articular disc causing progressive tissue breakdown. Objective: The aim of this study was to investigate the association of XbaI and PvuII polymorphisms with TMJ-ID and to evaluate susceptibility to the disorder. Methods: Unrelated TMJ-ID patients (age= 31.7±7.9) (n=48; 38 female, 10 male) and healthy controls (age=28.22 ± 5.9) (n=70; 33 female, 37 male) were included in the study. DNA extraction was done by standard proteinase K/phenol-chloroform method. Polymorphisms of the Estrogen receptor 1 gene (ESR1) was investigated by a polymerase chain reaction based restriction fragment length polymorphism assay. Results: TMJ-ID patients, and the subgroups; TMJ-ID anterior disc displacement with reduction (ADDwR) and TMJ-ID anterior disc displacement without reduction (ADDwoR) cases carrying the Pp and pp genotype had a 1.28/1.27, 1.43/1.90 and 1.18/0.81-fold odds ratio (p>0.05), respectively. ESR1 polymorphisms revealed five different genotypes in both the patient and the control groups; PXpx (45.6%/47.05%), PXPX (21.7%/27.9%), pxpx (13.04%/13.2%), PXpX (15.2%/8.83%) and PXPx (4.3%/2.94%). The pxpx genotype had a 2.30 fold odds ratio in women. Conclusion: The results from this study did not confirm susceptibility of VDR polymorphisms to TMJ-ID, however, these variations should be further evaluated in a larger cohort study. Keywords: Temporomandibular joint internal derangement, temporomandibular joint osteoarthritis, anterior disc displacement with reduction, anterior disc displacement without reduction, ERα, ESR1 Download full text:Check if you have access through your login credentials or your institution Username Password