Gene XbaI Polymorphisms Research Articles

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 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.

Association of GLUT-1 (XbaI) Gene Polymorphism in Diabetes and Diabetes Nephropathy Patients of North Indian Population

Diabetic nephropathy (DN) is a chronic complication of both type 1 and type 2 diabetes. However, there is still inadequate understanding of the exact mechanism related to progressive diabetic renal disease. The GLUT-1 XbaI gene polymorphism in the glucose transporter has been suggested in the development of DN. However, its association with T2DM and DN is controversial and has not been established in different ethnic populations. To enhance the understanding of GLUT-1 XbaI gene polymorphism in the context of T2DM and DN. We investigated the possible genetic association of GLUT-1 XbaI polymorphism with T2DM and DN in North Indian population. 100 T2DM patients and 100 patients of DN with 100 healthy controls were included in the study. GLUT-1 XbaI polymorphism was determined by PCR (polymerase chain reaction) and RFLP (restriction fragment length polymorphism). The obtained data showed no significant association between GLUT-1 XbaI gene polymorphism with T2DM and DN leading us to conclude that GLUT-1 XbaI gene polymorphism may not have major effects on T2DM and DN in North Indian population.

HUBUNGAN POLIMORFISME GEN RESEPTOR ESTROGEN ALFA DENGAN JUMLAH SEL T CD4+ PADA ANAK TERINFEKSI HIV

Background: Estrogen plays a key role in human physiological processes. Polymorphisms of estrogen receptors have been implicated in the development of numerous diseases. The aim of this study was to evaluate the frequency of ERα gene Pvull and Xbal polymorphisms and assessing their association with CD4+ T-cell counts in HIV-infected children on highly active antiretroviral therapy.Methods: CD4+ T cell counts were determined using the FACS count system. ERα PvuII and XbaI polymorphisms were analyzed by PCR-RFLP.Results: This study enrolled 34 HIV-infected children on HAART. The frequencies of the PvuII and XbaI gene polymorphisms were PP 41,2%, Pp 26,5%, pp 32,4% and XX 35,3%, Xx 17,6%, xx 47,1% respectively. CD4+ T-cell counts were significantly associated with XbaI polymorphisms (p<0.05), but not PvuII polymorphisms (p>0.01).Discussion: Host genetic factor polymorphism is an important determinant of HIV disease progression and treatment response. The ERα Pvull and Xbal polymorphisms can increase risk for the development of HIV-related complication,including oral diseases.Conclusion: The ERα gene XbaI polymorphism was significantly associated with CD4+ T-cell counts. It may explain the role of estrogen in the regulation of HIV replication. Studying human genetic variation in HIV-infected individuals is important to guide a new therapeutic approach.

The Evaluation of IL6 and ESR1 Gene Polymorphisms in Primary Dysmenorrhea

ABSTRACTPrimary dysmenorrhea is the most common gynecological complaint with painful menstrual cramps in pelvis without any pathology. It affects about half of menstruating women, and it causes significant disruption in quality of life. We investigated the association between IL6 gene promoter and ESR1 gene XbaI and PvuII polymorphisms and primary dysmenorrhea. In this case–control study, 152 unrelated young women with primary dysmenorrhea and 150 unrelated healthy age-matched controls participated. Genomic DNA was isolated and IL6 and ESR1 gene polymorphisms were genotyped using PCR-based RFLP assay. The distribution of genotype and allele frequencies of IL6 gene promoter and ESR1 gene XbaI polymorphisms were not statistically different between patients and controls (p > 0.05). However, the genotype and allele frequencies of ESR1 gene PvuII polymorphism showed statistically significant differences between primary dysmenorrhea patients and controls (p = 0.009 and p = 0.021, respectively). Statistically significant associations were also observed between age and married status of primary dysmenorrhea patients and ESR1 gene PvuII polymorphism (p = 0.044 and p = 0.023, respectively). In combined genotype analyses, AG at ESR1 XbaI and TC at ESR1 PvuII loci encoded a p-value of 0.027. Thus, individuals who are heterozygote at both loci have a lower risk of developing primary dysmenorrhea. Our study suggests no strong association between IL6 gene promoter and ESR1 gene XbaI polymorphisms and primary dysmenorrhea in Turkish women. However, ESR1 gene PvuII polymorphism showed statistically significant differences between primary dysmenorrhea patients and controls. The potential association between ESR1 gene PvuII polymorphism and age and married status of dysmenorrhea patients deserves further consideration.

Apolipoprotein B polymorphism distribution among a sample of obese Egyptian females with visceral obesity and its influence on lipid profile.

BackgroundRegional distribution of adipose tissue is more important than total amount of body fat in predicting complications associated with obesity. Apolipoprotein B (Apo B) plays a central role in lipid metabolism.AimTo investigate the importance of the XbaI polymorphism of Apo B gene (C7673T) as risk factor for visceral obesity and its influence on lipid profile.Subjects and methodsTotal of 122 obese adult females (BMI ⩾ 30 kg/m2): 56 of them with visceral obesity (⩾7 cm by abdominal Ultrasound) and 66 without visceral obesity and 36 age matched non-obese (BMI ⩽ 25 kg/m2) without visceral obesity were studied. Anthropometric assessment, body composition, visceral obesity and lipid profile evaluation were attempted. Genetic analysis of Apo B XbaI was performed using Polymerase Chain Reaction-Restriction Fragment Length Polymorphism (PCR-RFLP).ResultsVisceral obesity was associated significantly with the presence of the heterozygous (CT) genotype of the XbaI Apo B gene (p < 0.001). Frequency of homozygous (CC) was significantly the least genotype found in females with visceral obesity, while homozygote (TT) genotype was more frequent in those without visceral obesity. T allele (about 70%) was more frequent than C allele (about 30%) in all groups. Significant lowest values of visceral obesity, triglyceride and HDL-C were associated with the presence of (CC) genotype and the highest values were associated with the presence of the heterozygous (CT) genotype; except HDL-C with (TT) genotype.ConclusionsStudy reveals considerable association of Apo B XbaI gene polymorphism with visceral obesity and some lipid profile parameters (TG and HDL-C) among Egyptian females.

Genetic polymorphism of estrogen receptor alpha gene in Egyptian women with type II diabetes mellitus

Estrogen might play an important role in type 2 diabetes mellitus pathogenesis. A number of polymorphisms have been reported in the estrogen receptor alpha gene including the XbaI and PvuII restriction enzyme polymorphisms. The aim of this study was to determine if ESRα gene polymorphisms are associated with type 2 diabetes mellitus and correlated with lipid profile. Ninety diabetic Egyptian patients were compared with forty healthy controls. ESRα genotyping of PvuII and XbaI was performed using restriction fragment length polymorphism analysis. Our study showed that there is more significant difference in the frequency of C and G polymorphic allele between patients and control groups in PvuII and XbaI respectively. Also carriers of minor C and G alleles of PvuII and XbaI gene polymorphisms were associated with increased fasting blood glucose and disturbance in lipid profile as there is an increase in total cholesterol, triglycerides and Low density lipoprotein. So findings of present study suggest the possibility that PvuII and XbaI polymorphisms in ERα are related to T2DM and with increased serum lipids among Egyptian population.

No association of apolipoprotein B gene polymorphism and blood lipids in obese Egyptian subjects.

BackgroundSeveral environmental and genetic factors are associated with high levels of lipids in obese patients. Apolipoprotein B (ApoB) is the major protein component of low-density lipoproteins (LDL), very-low density lipoproteins (VLDL) and chylomicrons and plays a central role in lipid metabolism. Several apoB restriction fragment length polymorphisms (XbaI, EcoRI, MspI) have been reported to be associated with variation in lipid levels and obesity. To date, no data are available on the relationship between XbaI polymorphism and lipid levels in Egyptian populations. Following clinical profiling, 178 obese (body mass index [BMI] >25 kg/m2) and 178 age-matched non-obese (BMI ≤ 25 kg/m2) subjects were included in this case–control study. All samples were analysed for total cholesterol, triglycerides and HDL-cholesterol. Genetic analysis of apoB XbaI (X) was performed using Polymerase Chain Reaction-Restriction Fragment Length polymorphism (PCR-RFLP). The aim of this study was to assess the association of apoB XbaI gene polymorphism (X) and lipid profiles in obese and non-obese Egyptian populations.ResultsObese subjects demonstrated significantly higher values of waist-to-hip ratio, blood pressure, and total lipid. However, in our sample we did not find significant differences in apoB XbaI gene polymorphism (X) genotype or allele frequencies. Moreover, none of the studied lipid parameters showed any association with the gene polymorphism.ConclusionThis study reveals no significant association of apoB XbaI gene polymorphism (X) with obesity or lipid profiles in an Egyptian population.

ApoB gene SpIns/Del, XbaI polymorphisms and myocardial infarction: a meta-analysis of 7169 participants.

Apolipoprotein B (ApoB) gene signal peptide insertion/deletion (SpIns/Del, I/D) and XbaI polymorphisms have been associated with susceptibility to myocardial infarction (MI). However, the results of studies on this association are still controversial. This study explored reports published from 1986 to 2008 regarding the association of ApoB gene SpIns/Del and XbaI polymorphisms with MI. A meta-analysis including 7169 participants from 19 individual studies was performed. The pooled odds ratios (ORs) and their corresponding 95% confidence intervals (95% CIs) were evaluated by fixed-effect or random-effect models. A significant relationship between ApoB SpIns/Del gene polymorphism and MI was found under allelic (OR: 1.270, 95% CI: 1.090-1.480, P = 0.002), recessive (OR: 1.360, 95% CI: 1.130-1.630, P = 0.0009), dominant (OR: 1.091, 95% CI: 1.037-1.146, P = 0.001), homozygous (OR: 1.610, 95% CI: 1.330-1.950, P <0.00001) and heterozygous (OR: 1.081, 95% CI: 1.020-1.146, P = 0.009) genetic models. A marginal relationship between ApoB XbaI polymorphism and MI was found under a dominant genetic model (OR: 1.083, 95% CI: 1.004-1.168, P = 0.039). No significant association was detected under other genetic models (P >0.05). However, in the non-European subgroup analysis, increased MI risk emerged under all genetic models (P <0.05). ApoB SpIns/Del gene polymorphism was positively associated with increased MI risk. D allele and DD genotype carriers might be predisposed to MI susceptibility. The ApoB XbaI gene polymorphism locus had a significant positive association with increased MI risk only in the non-European population. T allele and TT genotype carriers might be susceptible to MI in the non-European population. On the contrary, the ApoB gene XbaI restriction fragment length polymorphism was not associated with increased MI risk in the entire population, particularly in the European population.

CYP 17 and estrogen receptor α gene polymorphisms: association with breast cancer susceptibility and clinicopathological parameters in a cohort of Egyptian patients

The association between exposure to endogenous and exogenous steroid hormones and breast cancer (BC) risk is well established. The aim of this study was to examine whether Cytochrome P450 (CYP)17 -34T>C and estrogen receptor (ER)α XbaI gene polymorphisms might influence endogenous estrogen hormone level. Also, we aimed to examine the potential association between these polymorphisms and BC risk, as well as some clinicopathological parameters in BC patients. Eighty-one Egyptian female subjects were recruited; 41 pathologically confirmed BC patients and 40 apparently healthy, age-matched female control subjects. Serum estradiol level was assayed using radioimmunoassay. Polymerase chain reaction–restriction fragment length polymorphism technique was used for detection of CYP 17 -34T>C and ERα-XbaI polymorphisms. Serum estradiol level did not show statistically significant difference when compared between the different CYP17 and ERα genotypes in controls (p = 0.088 and 0.241, respectively). No significant association between CYP17 and ER α gene polymorphisms and BC risk was encountered. There was a statistically significant association between ER α genotypes in overall BC cases with each of age at menarche, p = 0.024, age at diagnosis, p = 0.011, and nodal involvement, p = 0.037, and between nodal number and ER α genotypes in the premenopausal BC group, p = 0.038. In conclusion, CYP17 and ERα genotypes did not influence serum estradiol level. No statistically significant association was found between CYP17 -34T>C and ERα XbaI gene polymorphisms and breast cancer risk in Egyptian women. ER α gene may have an association with some clinicopathological parameters in breast cancer in Egyptian patients.

Genetic polymorphims of estrogen receptor alpha −397 PvuII (T&gt;C) and −351 XbaI (A&gt;G) in a portuguese population: prevalence and relation with breast cancer susceptibility

Estrogen receptor alpha (ERα), that mediates the biologic effects of estrogen in estrogen-sensitive tissues like breast, is genetically polymorphic. To evaluate the association between -397 PvuII (T>C) and -351 XbaI (A>G) restriction fragment length polymorphisms (RFLPs) in intron 1 of ERα gene and susceptibility of breast cancer, we undertook a case-control study in BRCA1 185delAG and 5382insC/BRCA2 6174delT negative Portuguese women. The study population consisted of 107 patients with histological diagnosis of breast cancer and 121 women with no history of breast cancer. Genomic DNA was extracted from blood samples and genotyping analyses were performed by PCR-RFLP. XbaI polymorphism was associated with a significant reduced risk of breast cancer for carriers of the x allele in homozygozity (OR 0.178; 95% CI 0.070-0.456; P<0.001) or heterozigozity (OR 0.223; 95% CI 0.089-0.561; P=0.001). The PvuII polymorphism was associated with a non-significantly reduced risk. The combined analysis of PvuII and XbaI polymorphisms revealed none synergistic effect of the two genotypes, except for simultaneous carriers of pp and xx genotypes, that have a reduced risk of breast cancer (OR 0.226; 95% CI 0.049-1.035; P=0.044). The combination of PvuII and XbaI genotypes into haplotypes showed that carriers of two copies of the px (ppxx) haplotype had a reduced risk of breast cancer (OR 0.405; 95% CI 0.194-0.843; P=0.014), compared with PX (PPXX+PPXx+PpXX+PpXx) haplotypes. PvuII and XbaI polymorphisms were in linkage disequilibrium both in cases (D=0.044, r2=0.049, X2=5.216, P=0.022) and controls (D=0.090, r2=0.139, X2=16.819, P<0.001), but not in the entire sample population analyzed as a whole (D=0.087, r2=0.0076, X2=1.733, P=0.188). In conclusion, in this case-control study we found that ERα gene XbaI polymorphism may modify individual susceptibility for breast cancer in this population.

Association of apolipoprotein B XbaI gene polymorphism and lipid profile in northern Indian obese

BACKGROUND:Over the last few decades, obesity, diabetes, and hypertension have become main health evils. The health problems of obesity are well-recognized. However, the fact that all obese individuals are not at the same risk of developing a disease is also recognized. The apolipoprotein B (APOB) plays a central role in lipid metabolism. So we compare the association of APOB XbaI gene polymorphism and lipid profile total in obese north Indian population.MATERIALS AND METHODS:A total of 132 obese (body mass index [BMI] >25 kg/m2) and 132 age matched non-obese (BMI ≤ 25 kg/m2) subjects were studied after taking detailed clinical profile. Lipid profile in serum/plasma was done using commercial kits. Genetic analysis of APOB XbaI was done using Polymerase Chain Reaction-Restriction Fragment Leanth polymorphism (PCR-RFLP).STATISTICAL ANALYSIS:Statistical analysis was performed by Statistical Package for the Social Sciences (SPSS) (version 11.5) software (IBM Corporation). All continuous variables were expressed as mean ± SD and tested by analysis of variance test. Comparisons of categorical variables were assessed using χ2 tests or Fisher's exact test. P < 0.05 was considered as significant.RESULTS:Analysis showed that obese subjects had significantly higher value of the waist-to-hip ratio, blood pressure (systolic and diastolic), and lipid profile. In APOB XbaI gene polymorphism, we did not find significant differences in genotype or allele frequencies. Moreover, none of the studied metabolic parameters (lipid profile) showed any association with the gene polymorphism.CONCLUSIONS:Study reveals no considerable association of APOB XbaI gene polymorphism with obesity and lipid profile in north Indians.

Association of Estrogen Receptor α GenesPvuII andXbaI Polymorphisms with Type 2 Diabetes Mellitus in the Inpatient Population of a Hospital in Southern Iran

BackgroundEstrogen plays a fundamental role in the pathogenesis of type 2 diabetes mellitus (T2DM). Very few studies have shown the association between estrogen receptor α (ERα), PvuII and XbaI gene polymorphisms with T2DM in both men and women. We evaluated the hypothesis that PvuII and XbaI polymorphisms of ERα gene may be associated with T2DM in adult.MethodsFrom spring of 2010 to the fall of 2011, a case-control study was performed at clinical centers of Jahrom University of Medical Sciences. We included 174 patients with T2DM including men and women and 174 age, sex, and body mass index frequency-matched health controls. We analyzed the PvuII and XbaI polymorphisms of ERα by using the polymerase chain reaction-based restriction fragment length polymorphism method.ResultsNo significant differences between demographic characteristics of control and patients groups were observed. Allele frequencies of both PvuII and XbaI polymorphisms were significantly different between patients and control subjects (P=0.014 vs. P=0.002, respectively). When the group was separated into women and men, logistic regression analysis of genotype distribution of PvuII (pp vs. Pp+PP) in both sexes revealed that there was no significant association of PvuII genotype with men (odds ratio [OR], 1.67; confidence interval [CI], 0.86 to 3.28; P=0.89) and women (OR, 0.96; CI, 0.53 to 1.74; P=0.12).ConclusionPvuII and XbaI polymorphisms in ERα are related with T2DM in the inpatient population.

Prevalence of estrogen receptor alpha PvuII (c454-397T&gt;C) and XbaI (c454A&gt;G) polymorphisms in a population of Brazilian women

The aim of this work was to study the estrogen receptor alpha (ERS1) PvuII and XbaI gene polymorphisms prevalence in randomly selected women population from Rio de Janeiro and Espírito Santo states in Brazil by polymerase chain reaction restriction fragment lengths polymorphism (PCR_RFLP) methodology. It was shown that Rio de Janeiro women exhibited a significantly different prevalence of XbaI polymorphism comparing to Espirito Santo women. Nonetheless, similar prevalence of PvuII polymorphism was found in both women´s populations. Moreover, a strong linkage disequilibrium was observed between these SNPs reinforcing the hypothesis of differential pattern of inheritance observed on such populations.

Association Between Estrogen Receptor-α PvuII and XbaI Gene Polymorphisms With Extracranial Carotid Stenosis

Background: To determine whether estrogen receptor-α (ESR1) PvuII and XbaI gene polymorphisms affect carotid artery atherosclerosis in an Iranian population. Methods: There were 445 consecutive patients referred for isolated coronary artery bypass graft (CABG) surgery at our center registered in the study. The subjects were classified into 2 major categories with (≥50%) and without (<50%) carotid stenosis. Using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP), the presence of PvuII and XbaI polymorphism within the ESR gene were analyzed. Results: Even after controlling for age, male sex, cigarette smoking, dyslipidemia, diabetes, and hypertension in a multivariable analysis, PvuII and XbaI polymorphisms were not found to be associated with the occurrence of carotid stenosis ≥50% ( P =0.626 and P =0.992, respectively). Conclusion: Our data suggests that ESR1 PvuII and XbaI gene polymorphisms did not have an effect on carotid artery stenosis in an Iranian population undergoing CABG. * ESR1 : estrogen receptor-α CABG : coronary artery bypass graft PCR-RFLP : polymerase chain reaction-restriction fragment length polymorphism CVD : cardiovascular disease ESR2 : estrogen receptor-β SNPs : single-nucleotide polymorphisms CAD : coronary artery disease LDL : low-density lipoprotein HDL : high-density lipoprotein NASCET : North American Symptomatic Carotid Endarterectomy Trial EDTA : ethylenediaminetetraacetic acid ANOVA : analysis of variance IMT : intimal-medial thickening

Estrogen receptor alpha gene XbaI polymorphism in human mesenchymal stem cells influences osteoblast differentiation, activation and the effect of estrogen

Estrogen receptor alpha gene XbaI polymorphism in human mesenchymal stem cells influences osteoblast differentiation, activation and the effect of estrogen

Association of estrogen receptor alpha and collagen type I alpha 1 gene polymorphisms with bone mineral density in postmenopausal women

In this study, ERα gene PvuII and XbaI polymorphisms and COL1A1 gene Sp1 polymorphisms in postmenopausal women were compared with lumbar vertebra and femoral neck BMD values. In conclusion, it was designated that PvuII polymorphism was effective on average lumbar vertebra BMD value in postmenopausal women of our study group. Bone mineral density (BMD), the major determinant of osteoporotic fracture risk, has a strong genetic component. Several candidate gene polymorphisms have been implicated in the regulation of this process. In this study, the relationship among BMD values of lumbar vertebra and femoral neck and ERα gene PvuII and XbaI polymorphisms and COL1A1 gene Sp1 polymorphism in 126 postmenopausal women (30 normal, 46 osteopenic, and 50 osteoporotic in terms of bone mineral density) was researched. The ERα gene PvuII and XbaI genotypes were determined by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) whereas the COL1A1 gene Sp1 genotype was determined by real-time PCR. BMDs at the lumbar spine (vertebrae L1-L4) and hip (femur neck) were measured by dual-energy X-ray absorptiometry. According to our study results, the significant difference was found in women with normal, osteopenic, and osteoporotic bone mass in terms of ERα gene PvuII polymorphism "pp" genotype frequency. The "pp" genotype frequency was significantly lower in women with normal bone mass. Average lumbar vertebra BMD value of women with "PP" genotype was significantly higher than that with "pp" genotype. On the other hand, in the evaluations on ERα gene XbaI polymorphism and COL1A1 gene Sp1 polymorphism, it was noted that there was no difference in terms of average BMD values, genotype, and allele frequencies among groups. In conclusion, it was designated that ERα gene PvuII polymorphism was effective on average lumbar vertebra BMD value in postmenopausal women of our study group.

Lipid profile and inflammatory markers associated with estrogen receptor α PvuII and XbaI gene polymorphisms

Estrogen is established to influence lipoprotein metabolism and inflammatory markers. Alternations in estrogen receptor alpha (ESR1) expression and function may affect the role of estrogen in this regard. The aim of this study was to determine whether ESR1 PvuII and XbaI gene polymorphisms have effects on lipoprotein (a) as well as inflammatory variables in an Iranian population. Three hundred and ninety seven consecutive participants (228 men, 57.4%) who were admitted at our center for elective coronary angiography because of symptoms related to coronary artery disease (CAD) were enrolled in our study. Total cholesterol, high-density lipoprotein (HDL)-cholesterol, and triglyceride levels were determined by standard methods using commercial kits. Low-density lipoprotein (LDL)-cholesterol was calculated according to the Friedewald formula. The lipoprotein (a) levels were measured by ELISA method using Biopool kit, and the CRP concentrations were determined by Latex Immunoturbidometry. The presence of PvuII and XbaI polymorphisms within the ESR gene were analyzed using polymerase chain reaction-based restriction fragment length polymorphism (PCR-RFLP). The frequency of homozygous and heterozygous were 25.9% and 50.1%, for PvuII genotypes, and the frequency was 23.7% and 48.6%, for XbaI genotypes, respectively. After adjusting for CAD and age, no impacts of ESR1 PvuII and XbaI polymorphisms were found on lipid profile, lipoprotein (a) level, and quantitative CRP either in total population or in subgroups stratified by gender. In conclusion, our data demonstrate that ESR1 PvuII and XbaI gene polymorphisms did not seem to have an effect on lipoprotein metabolism or on inflammatory variables such as CRP.

Association of estrogen receptor α gene polymorphism with the presence of coronary artery disease documented by coronary angiography

Objectives To examine the relationship between PvuII and XbaI polymorphisms, with the presence of angiographically determined CAD in an Iranian population. Design and methods Patients having angiographic evidence of atherosclerosis (Gensini score > 6) in their epicardial coronary tree (CAD + case group) were compared with Patients with Gensini score ≤ 6 (CAD − control group). The presence of PvuII and XbaI polymorphisms was analyzed using polymerase chain reaction-based restriction fragment length polymorphism (PCR-RFLP). Results The PvuIΙ genotype distributions were not statistically different in CAD groups, and subgroups stratified by gender. For the XbaI polymorphism, after controlling for age, male sex, cigarette smoking and hyperlipidemia, XbaI GG genotype was not also found to be an independent predictor for CAD occurrence (OR = 1.65; 95% CI: 0.90–3.03; P = 0.10). Conclusions We did not observe an association between ESR1 PvuII and XbaI gene polymorphisms with CAD in the risk of CAD in an Iranian population.