PP Genotype Research Articles

Association of Estrogen Receptor Alpha Gene Polymorphisms and Risk of Fracture

The association between estrogen receptor alpha (ESR1) gene polymorphisms and risk of fracture is still controversial and ambiguous. The objective of this study was to evaluate the effect of PvuII polymorphisms of the ESR1 gene on fracture risk in Chinese patients. A population-based control study of elderly subjects was conducted in 120 fracture patients and 120 controls. The PvuII pp genotype of the ESR1 gene was determined by using a polymerase chain reaction-restriction fragment length polymorphism assay. There was no relationship between ESR1 gene PvuII polymorphism and fracture risk. When stratifying by fracture type, it was found that vertebral fracture cases had a significantly higher frequency of the PvuII pp genotype (odds ratio=2.00, 95% confidence interval=1.03, 3.88; p=0.04) than controls. This study suggested that there was a modest but statistically significant association between the PvuII pp genotype of the ESR1 gene and vertebral fracture in Chinese patients. The molecular mechanism underlying this association needs further study.

Estrogen receptor gene polymorphisms in a group of postmenopausal Turkish women: association with bone mineral density

ABSTRACTObjective To evaluate the frequency of the estrogen receptor (ER) gene PvuII and XbaI polymorphisms and their associations with bone mineral density (BMD) in a group of postmenopausal Turkish women.Design A total of 125 healthy postmenopausal women and 125 premenopausal healthy young women as controls were included in the study. The PvuII and XbaI polymorphisms in the ER gene were studied by the polymerase chain reaction-restriction fragment length polymorphism method. The BMD of the lumbar vertebrae and femoral neck were measured by dual-energy X-ray absorptiometry.Results The frequencies of the ERα PVuII genotypes PP, Pp and pp were 20%, 54.4% and 25.6% in premenopausal and 24.8%, 44.8% and 30.4% in postmenopausal women, respectively. The frequencies of the ER XbaI genotypes XX, Xx, xx were 16.8%, 48.8% and 34.4% in premenopausal and 16.8%, 48% and 35.2% in postmenopausal women, respectively. There was no difference in the frequencies of ER gene polymorphisms between premenopausal and postmenopausal women. BMD measurements were not different between ER PvuII and XbaI genotypes in premenopausal and postmenopausal women.Conclusions ER gene PvuII and XbaI polymorphisms have no major influence on bone mineral density in our group of postmenopausal women.

The symptomatology of climacteric syndrome: whether associated with the physical factors or psychological disorder in perimenopausal/postmenopausal patients with anxiety–depression disorder

PurposeTo explore whether the symptoms of climacteric syndrome associated with its physical factors or psychological disorder in perimenopausal/postmenopausal patients with anxiety–depression disorder.MethodsWe recruited 78 climacteric patients with anxiety–depression disorder and 72 control participants in perimenopausal/postmenopausal without anxiety–depression disorder for this study. We measured symptoms using the Greene Climacteric Symptom Scale in all cases. We also collected demographic data and tested sexual hormone, blood pressure, bone density, cognitive, estrogen receptor-alpha (ERα) gene polymorphism as physiological factors, using HARS-14 and CHDS assessed psychological disorder degree.ResultsC-MMSE scores as well as Estradiol and progesterone levels in the anxiety–depression disorder group were significantly lower compared to the control group (P < 0.01). In addition, the anxiety–depression disorder group had significantly higher Greene Climacteric Scale scores, as well as somatic symptoms compared to controls (P < 0.01). Moreover, the anxiety, depression and somatic symptoms of the Greene Climacteric Scale were positively correlated with HARS-14 and CHDS scores (P < 0.001) and negatively with estrogen level and C-MMSE scores (P < 0.05) in the anxiety–depression disorder group. Greene Climacteric Scale Symptoms were not significantly correlated with blood pressure, bone density or other factors (P > 0.05). There was no significant change in the allele frequency or the estrogen receptor-alpha gene polymorphisms, between the two groups (P > 0.05); however, the Pp genotype was negatively associated with C-MMSE scores (r = appraises, P = 0.033).LimitationsThe sample size was relatively small.ConclusionsThe symptoms of somatic symptoms in patients with climacteric syndrome and anxiety–depression disorder are associated with the emotional disorder but not with a physical disease. The Pp ERα polymorphism Pvu II is associated with a cognitive decrease.

Association of estrogen receptor α gene PvuII and XbaI polymorphisms with non-small cell lung cancer

Single nucleotide polymorphisms (SNPs) of the estrogen receptor (ER)-α have been found to be associated with various diseases at significantly different frequencies. However, whether any relationship exists between ER-α polymorphisms and lung cancer remains to be determined. In this study, 84 non-smoking, female, non-small cell lung cancer patients with various stages of disease and 234 cancer-free reference controls were enrolled to examine the association of ER-α polymorphisms in lung cancer. Two restriction SNP sites, PvuII and XbaI, in the first intron of the ER-α gene were genotyped by polymerase chain reaction-restriction fragment length polymorphism. The frequencies of the PvuII-XbaI haplotypes and genotypes in a Taiwanese population were revealed for the first time. Although the genotypic frequencies of two polymorphic sites of ER- α were in linkage disequilibrium for the lung cancer group (χ(2)=50.013, d.f.=4) and reference controls (χ(2)=60.797, d.f.=4); and 7 and 8 combined genotypes were present, respectively, the distribution and the major genotypes are different in the two groups (p<0.0001). The p-values for PvuII and XbaI genotypes were significantly different between the lung cancer and reference controls. The PP genotype presence was found to be significantly lower in the lung cancer group (P=0.005), whereas presence of the xx genotype was significantly higher (P=0.042). These findings suggested that the PP genotype had a lower risk of lung cancer; whereas the xx genotype had a higher risk. In comparison with other studies conducted in various populations, it is of note that the pX haplotype frequency of this study was higher than that of other studies, whereas the px haplotype was lower. Moreover, the Xx genotypic frequency of XbaI polymorphisms in the ER-α gene of the reference control group was found to be extremely high, whereas the xx genotypic frequency was extremely low. In conclusion, PvuII-XbaI polymorphisms of the ER-α gene were found to be associated with the risk, but not cancer severity, of non-small cell lung cancer in a Taiwanese population.

Estrogen receptor alpha gene polymorphisms are associated with type 2 diabetes and fasting glucose in male subjects

The PvuII and XbaI polymorphisms of the estrogen receptor α (ER1) gene have been variably associated with type 2 diabetes (T2D) in several populations. However, this association has not been studied in Iranian subjects and we hypothesized that the ER1 variants might be associated with T2D and related metabolic traits in this population. The PvuII and XbaI genotypes were determined by PCR-RFLP in 377 normoglycemic controls and 155 T2D patients. Bonferroni correction was applied for the correction of multiple testing. No significant association was found between the allele and genotype frequencies of PvuII and XbaI variants with T2D in females. In a dominant model (PP vs. Pp+pp), the frequency of the Pp+pp genotype was higher in normoglycemic subjects compared to T2D patients [85.5% vs. 66.7%, OR 0.22 (0.08-0.55), P=0.001]. Four possible haplotypes were observed in the population, whereas haplotype TA had a higher frequency in male T2D subjects than the controls. Furthermore, non-diabetic male subjects carrying the genotype of PP had a higher fasting glucose levels than the individuals with the genotype of Pp+pp (P=0.013). Multivariate logistic regression analysis showed that PvuII polymorphism was the independent determinants of T2D in males [OR 4.37 (1.61-11.86), P=0.004]. No association was found between the XbaI polymorphism and diabetes in male group. Our results suggest that the ER1 polymorphisms might associate with T2D and fasting glucose among Iranian male subjects.

The association of L-selectin polymorphisms with L-selectin serum levels and risk of ischemic stroke

L-selectin is a member of the selectin family of cell adhesion molecules which are important in the transient attachment of leukocytes to endothelial cells, which plays a role in inflammation processes and is one of the earliest events in the pathogenesis of atherosclerosis. No studies have examined the association of this polymorphism with ischemic stroke. Therefore, we investigated that L-selectin gene polymorphism and its soluble level are associated with ischemic stroke in Chinese population. We analyzed single nucleotide polymorphisms of L-selectin gene Pro213Ser (P213S) in 265 patients with ischemic stroke and 280 age and sex matched controls, using PCR-RFLP and DNA sequencing method, while soluble L-selectin levels were measured by ELISA. There were significant differences in the genotype and allele frequencies of L-selectin gene P213S polymorphism between the group of patients with ischemic stroke and the control group (P<0.05). Soluble L-selectin levels were increased in patients with ischemic stroke compared with controls (P<0.01). Moreover, The P213S polymorphism of L-selectin was significantly associated with sL-selectin levels, the serum levels of L-selectin PP genotype carriers was significantly higher than no carriers in patients with ischemic stroke (P<0.05). The P213S polymorphism of L-selectin and its sL-selectin levels are associated with ischemic stroke in Chinese population. Our data suggests that L-selectin gene may play a role in the development of ischemic stroke.

Association between ER-α polymorphisms and bone mineral density in patients with Turner syndrome subjected to estroprogestagen treatment—a pilot study

Reduced bone mineral density (BMD) is present in many women with Turner syndrome (TS), and hypo-estrogenism is known to play a vital role in bone mineralization disturbances. It has been suggested that genetic factors play an important role in the regulation of BMD. The aim of this study was to analyze the association between Pvu II and XbaI ER-α polymorphisms and BMD in TS patients subjected to estroprogestagen (EP) treatment. Thirty-two TS patients aged 17-38 (mean age 22.7±8.2) along with 82 healthy controls were the subjects for this study. Baseline values of hormonal parameters, BMD and bone density markers were measured in the subjects. Subsequently, TS patients underwent 4years of EP therapy. The results of laboratory parameters and BMD were analyzed in regard to PvuII and XbaI polymorphic variants of the ER-α gene. The increase in BMD of TS subjects was the highest in the 1st (7.5%, p=0.013) and 2nd (6.6%, p=0.008) years of treatment. Four years of EP therapy was reflected by a significant increase in BMD z-scores in patients with xx and Xx genotypes of the XbaI gene and in those with with the pp and Pp genotypes of PvuII. In patients with haplotypes other than XXPP, BMD z-scores were significantly higher compared to their baseline after 2 (p=0.002), 3 (p<0.001) and 4 (p<0.001)years of treatment. In conclusion, genotypes xx and pp were shown to be prognostic markers of a good response to EP treatment, whereas the XXPP haplotype carriers were revealed to have the risk factors for insufficient responsiveness against EP treatment in BMD control.

Oestrogen Receptor-α Polymorphism and Risk of Fracture: A Meta-Analysis of 13 Studies Including 1279 Cases and 6069 Controls

A meta-analysis was performed to evaluate the effect of oestrogen receptor-alpha (ESR1) gene PvuII polymorphism on fracture risk. It included published data from relevant studies (up to May 2010) identified from Medline, Embase and Current Contents. The 13 included studies contained 1279 fracture cases and 6069 controls. The combined results based on these studies showed no relationship between ESR1 gene PvuII polymorphism and fracture risk. No significant difference in genotype distribution was found when stratifying by race. When stratifying by fracture type, it was found that vertebral fracture cases had a significantly higher frequency of the PvuII pp genotype than controls in five studies (552 cases and 2350 controls). This meta-analysis suggests a modest but statistically significant association between the ESR1 PvuII pp genotype and vertebral fracture.

Polymorphism of PRLR and LHβ genes by SSCP marker and their association with litter size in Boer goats

In the study, the polymerization effect of genotypes and genotype combinations of prolactin receptor (PRLR) and luteinizing hormone beta (LHβ) gene was analyzed in Boer goats by SSCP marker, DNA sequencing and pedigrees. The relationships of genotypes and genotype combinations with litter size were compared in Boer goats. The result indicated that there were genetic polymorphisms in PRLR and LHβ genes. There were 4 positive genotypes (HH, CC, PQ and LL) and 4 negative genotypes (GG, DD, PP and MM) effects on litter size, respectively in Boer goats. Compared with the other genotype combinations, the polymerization effect of HHCCPQLL was markedly improved ( P < 0.05). The polymerization effect value of CC genotype was higher than that of CD genotype by 6.55%, and HH genotype was higher than that of GH genotype by 9.47%, and HH genotype was higher than that of GG genotype by 10.55%, and PQ genotype was higher than that of PP genotype by 7.73%–11.68%, and PQ genotype was higher than that of QQ genotype by 14.06%, and LL genotype was higher than that of LM genotype by 2.76%. This result can be used to guide goat breeding in polyembryony trait.

Association of CYP19 and ESR1 Pleiotropic Genes With Human Longevity

Aromatase (CYP19) and estrogen receptor-alpha (ESR1) are involved in the metabolism of estrogens, which have a relevant role in female and male aging. Moreover, due to their influence on fertility, both genes may be part of the longevity-fertility trade-off mechanism. This investigation examines the association of ESR1 (PvuII and XbaI) and CYP19 (rs4646) polymorphisms with longevity. A sample of 258 individuals (mean age = 83.1 ± 5.7 years) was recruited in 2000. Based on mortality data collected in 2009, the sample was divided into two groups of participants surviving more than 90 years or not. The analysis showed that ESR1 PP (odds ratio = 2.2) and CYP19 genotypes carrying the T allele (odds ratio = 1.9) were significantly associated with longevity (survival to age more than 90 years). As the ESR1 PP genotypes were found associated with reduced fertility in the same sample, we may infer that ESR1 genotypes could exert an antagonistic pleiotropic effect on longevity and fertility.

Estrogen receptor α genetic variants and the risk of stroke in a South Indian population from Andhra Pradesh

Background Stroke is a complex disease caused by combination of multiple risk factors. Recent findings have suggested that stroke has a strong genetic component. Evidence suggests that variations in the estrogen receptor α (ESR1) gene may influence stroke risk. Aims The present study was carried out to investigate the role of ESR1 gene polymorphisms [ PvuII (rs 2234693) and XbaI (rs 9340799)] with stroke in a South Indian population from Andhra Pradesh. The relationship between ESR1 genotypes with estradiol levels was also investigated in pre- and postmenopausal women. Methods Four hundred patients with ischemic stroke and three hundred and eighty subjects were enrolled in this case–control study. Ischemic stroke subtypes were classified according to TOAST (Trial of Org 10172 in Acute Stroke Treatment) classification. The ESR1 PvuII and XbaI genotypes were determined by PCR-RFLP method. Serum estradiol was measured by ELISA. Results In case of PvuII polymorphism statistically significant difference was observed in the genotypic and allelic frequencies between patients and controls (joint analysis of men and women) (p = 0.003 and 0.004 respectively). However, the XbaI genotypes and alleles did not show an association with stroke in the study population. When the analysis was carried out separately for men and women, the PvuII polymorphism did not show significant association with stroke in men; women showed a significant association. Further when women were grouped in to premenopausal and postmenopausal, the premenopausal group did not show a significant association with the polymorphism but significant association with stroke was found in postmenopausal women. A stepwise multiple logistic regression analysis confirmed these findings. Women with pp genotype had low estradiol levels in comparison with PP genotypic individuals (p < 0.05). Further evaluating the association of this polymorphism with stroke subtypes, we found significant association of PvuII polymorphism with extracranial atherosclerosis, lacunar and cardioembolic stroke. Conclusion In conclusion our results suggest the PvuII gene polymorphism is significantly associated with stroke in postmenopausal women in a South Indian population from Andhra Pradesh. The pp genotypes have average 17β estradiol levels which are significantly low in comparison with PP genotypes. Therefore postmenopausal women with a high frequency of pp genotype are more predisposed to ischemic stroke. However, this is a preliminary study and the results need to be confirmed in a larger cohort.

XbaI polymorphism of the estrogen receptor alpha gene influences the effect of raloxifene on the endothelial function

Objectives Cardiovascular disease is the leading cause of death in postmenopausal women and estrogen deficiency may be an important factor in its development. The selective estrogen receptor modulator, raloxifene, exerts a part of its actions through the estrogen receptor alpha (ESR1) activation. We explored if polymorphisms of the ESR1 modify the effects of 6 months raloxifene treatment on endothelial function. Methods A total of 53 postmenopausal women, mean age 59.7 ± 6.2, finished the prospective clinical trial. The PvuII, XbaI, and P325P polymorphisms of the ESR1 gene were analyzed. In all subjects endothelium-dependent flow mediated dilatation (FMD) and cell adhesion molecules (CAM) ICAM-1, VCAM-1 and E-selectin were measured before and after 6 months of raloxifene treatment. Results There was no difference in FMD between the ESR1 genotypes, at baseline. After raloxifene treatment, the FMD was significantly greater in subjects with XX genotype of XbaI polymorphism compared to xx ( p = 0.03) and borderline greater when compared to Xx genotype ( p = 0.053). The FMD increased significantly with raloxifene treatment in women with Xx genotype of XbaI and Pp genotype of PvuII polymorphisms ( p = 0.027 and p = 0.034, respectively). The P325P polymorphism did not influence the FMD after raloxifene. None of the ESR1 gene polymorphisms had any impact on the levels of CAM before or after the treatment. When analysing the whole group, a significant decrease in E-selectin ( p < 0.001) and a small increase in ICAM-1 levels ( p = 0.029) was observed with raloxifene treatment, but no influence on VCAM-1 levels or FMD overall was seen. Conclusion Our data suggest that XbaI and possibly PvuII polymorphisms of the ESR1 gene influence the impact of raloxifene treatment on endothelial function. This effect could be of pharmacogenomic and clinical importance.

ASSOCIATION OF ESTROGEN RECEPTOR Α PVU II AND XBAI GENE POLYMORPHISMS WITH BREAST CANCER RISK; RELATION TO THE AGE OF MENARCHE AND MENOPAUSE

The association of estrogen receptor-α (ER-α) genetic polymorphisms with the risk ofbreast cancer attracts much attention because ER functions as a hormone-dependenttranscriptional regulator, which in turn, plays a significant role in the development ofbreast cancer. This study was conducted to find if there is an association betweengenetic polymorphisms in the ER-α gene and breast cancer in Egyptian females andits relation to the age of menarche and menopause. A total of 50 breast cancerEgyptian women and 25 age-matched healthy controls were involved in the study.PvuII and XbaI polymorphisms of ER-α gene were genotyped by polymerase chainreaction restriction fragment length polymorphism. Pp/pp genotypes were found in84% of patients and in 56% of controls; and the homozygous wild PP genotype wasfound in 16% of patients, and 44% of controls. There was highly significant increasein the risk of breast cancer with the presence of PvuII restriction site (Pp/ppgenotypes) compared with absence of restriction site (PP genotype) (P = 0.008).There was statistically significant decrease in the age of menarche (P = 0.021) andinsignificant differences in the age of menopause of all participant women withpresence of PvuII restriction site. Xx/xx genotypes were found in 84% of patients andin 76% of controls; and XX genotype was found in 16% of patients and in 24% ofcontrols. There was insignificant difference in genotype frequency of the ER-α XbaIpolymorphism between patients and controls (P = 0.157). There was statistically veryhighly significant decrease in the age of menarche (P<0.001) and insignificantdifferences in the age of menopause of all participant women with presence of XbaIrestriction site. From the present study, it could be concluded that geneticpolymorphisms in the ER-α gene may play a role in the etiology of breast cancer inEgyptian women and may be a genetic determinants of the age of menarche.

Height at menarche is influenced by estrogen receptor α gene polymorphisms

It has been suggested that polymorphic variations in estrogen receptors (ERs) genes may have an impact on linear growth of girls during puberty. The aim of the study was to investigate whether height at menarche is influenced by PvuII and XbaI polymorphisms of the ERalpha gene. The study population consisted of 127 healthy girls, who were observed from premenarcheal period at six monthly intervals, until menarche occurred in all participants. Anthropometric measurements were taken at each visit and their values at menarche were calculated using centile curves drawn individually for each subject. PvuII and XbaI ERalpha gene polymorphisms were evaluated with RLFP-PCR. The age at menarche was not related to ERalpha gene polymorphisms. Girls with pp genotype were at menarche on average 3.2 cm shorter than PP homozygotes and in addition xx homozygotes were shorter than subjects with XX and Xx genotypes: 3.0 cm and 3.9 cm respectively. Subjects with px haplotype were, at the onset of the first menstrual period, from 2.3 cm to 3.1 cm shorter than carriers of other haplotypes. The leg length-to-height ratio at menarche was lower in xx homozygotes than in Xx heterozygotes and lower in px haplotype in comparison to Px and pX haplotypes carriers. Corresponding associations were observed at the final visit. Height at menarche is influenced by the ERalpha gene polymorphism.

Study on polymerization effect of polyembryony genes by SSCP marker and family trees in Chinese goats

The aim of experiment was to analyze the polymerization effect of genotypes and genotype combinations of PRLR and LHβ gene loci in Xinong Saanen goat by SSCP marker and family trees. The relationships of genotype combinations and litter size were compared in Xinong Saanen goat. The results indicate that there are genetic polymorphisms at the PRLR and LHβ gene loci, and there are 4 positive genotypes (GG, CC, PP and LL) and 4 negative genotypes (HH, DD, QQ and MM) effects on litter size, respectively in Xinong Saanen goat. Compared with the other genotype combinations, the polymerization effect of GGCCPPLL markedly improved (P<0.05). The polymerization effect value of CC genotype was higher than that of CD genotype by 14.12%, and MM genotype was higher than that of LM genotype by 3.80%, and PP genotype was higher than that of QQ genotype by 15.67%, and LL genotype was higher than that of LM genotype by 11.48%, and PQ genotype was higher than that of QQ genotype by 11.02%, and CD genotype was higher than that of DD genotype by 10.69%, and PQ genotype was higher than that of PP genotype by 6.09%. There was significantly polymerization effect in the course of reproduction from parental generation (F0) to F1 generation. However, there was significantly gene isolation effect in the course of reproduction from F1 generation to F2 generation. This result can be used to guide the goat breeding in polyembryony trait.

Estrogen receptor 1, Glutathione S-transferase P1, Glutathione S-transferase M1, and Glutathione S-transferase T1 Genes with Dysmenorrhea in Korean Female Adolescents

Dysmenorrhea is the most common gynecologic complaint among adolescent females. We investigated the association between genetic polymorphisms and dysmenorrhea. A total of 202 postmenarcheal Korean female adolescents 16-17 yr old participated in this study. Genotyping for glutathione S-transferase mu 1 (GSTM1), glutathione S-transferase theta 1 (GSTT1), glutathione S-transferase pi 1 (GSTP1), and estrogen receptor 1 (ESR1) was performed using PCR-based methods. The PP+Pp genotype of the ESR1 gene was more frequent than pp genotypes in subjects with dysmenorrhea than in subjects without dysmenorrhea (odds ratio=2.440; 95% confidence interval, 1.036-5.753; P=0.040) using an unadjusted univariate logistic regression analysis. The relationship between dysmenorrhea and ESR1 gene polymorphisms remained significant after adjustment for premenstrual syndrome, years elapsed after menarche, and family history of dysmenorrhea. No significant difference was observed between subjects with dysmenorrhea and subjects without dysmenorrhea for polymorphisms of GSTM1, GSTT1, and GSTP1 genes. Our results suggest that ESR1 gene polymorphisms may be associated with dysmenorrhea.

Association of estrogen receptor α gene polymorphisms with BMD and their affect on estradiol levels in pre- and postmenopausal women in south Indian population from Andhra Pradesh

Background Osteoporosis is a multifactorial disorder with a strong genetic component and ESR1 is suggested as a candidate gene for osteoporosis. Therefore the present study is aimed to investigate the role of ESR1 gene polymorphisms and its influence on estradiol levels and BMD in osteoporotic women of Indian ethnicity. Methods Four-hundred twenty-seven osteoporotic women and 460 age matched controls were included in the study. ESR1 gene polymorphism was assessed by PCR-RFLP method. Serum estradiol was measured by ELISA. Results The frequency of pp and xx genotypes as well as p and x alleles was significantly high in pre- and postmenopausal osteoporotics when compared to controls ( p < 0.001). They had low BMD and estradiol levels in comparison with PP and XX genotype individuals ( p < 0.05). Conclusion The ESR1 gene is associated with low bone mass and low estradiol levels in all our study subjects. It is likely that the allele exerts its influence on the bone in early adulthood leading to an increased risk of osteoporosis later in life.

A Case-Control Study of TP53 R72P Polymorphism in the Breast Cancer Patients of Ethnic Kashmiri Population.

BackgroundTP53 R72P polymorphism has been proposed as a risk factor for breast cancer and is more likely to differ among different ethnic populations. We carried out the study to determine the role of R72P polymorphism in breast cancer patients of Kashmir, an ethnic population by PCR-RFLP.MethodsTo evaluate the role of this polymorphism in our ethnic Kashmiri population, we devised our study to study its role in breast cancer patients and healthy controls. The contribution of TP53 R72P polymorphism in 130 breast cancer patients and 220 female healthy controls was assessed using a PCR-RFLP (polymerase chain reaction-restriction fragment length polymorphism).ResultsWe observed that women with PP genotype have increased risk for developing breast cancer. We found Pro/Pro genotype statistically significantly associated with dwelling, lymph node metastases, histopathological grade, and menopausal status. Pro/Pro genotype in cases and controls was observed and it was found that it is significantly associated with the breast cancer.ConclusionsOur findings suggest that TP53 R72P polymorphism is a risk factor in breast cancer. Furthermore, these results suggest Pro72 allele is associated with higher risk for breast cancer patients. Women with PP genotype have increased risk for developing breast cancer.

Association of Estrogen Receptor-Alpha Gene Polymorphism with Pathogenesis of Osteoporosis in Korean Vegetarian Men

Objective: The purpose of this study was to investigate the association between two genetic polymorphisms (PvuII and XbaI restriction fragment length polymorphisms, RFLPs) of the estrogen receptor-α (ER1) gene and the quantitative ultrasound (QUS) parameters at the calcaneus. Subjects and Methods: Two hundred and sixty-six Korean vegetarian men, mean age 50.9 ± 12.0 years (range 26–80), were studied. Polymorphisms at the ER1 gene sites and the cross-sectional associates of genetic factors with calcaneal QUS parameters including broadband ultrasound attenuation (BUA) and the speed of sound (SOS) were analyzed by RFLPs using polymerase chain reaction. Results: The distribution of PvuII and XbaI RFLPs in the ER1 gene was as follows: PP 11.6%, Pp 47.2%, pp 41.2%, XX 1.2%, Xx 24.4% and xx 74.4%. After adjusting for potential confounding factors such as age and body mass index, two genetic polymorphisms of the ER1 gene were independently associated with BUA, SOS and stiffness index at the calcaneus of our subjects. The QUS measurements of the subjects with the xx genotype were higher than those of the subjects with an Xx genotype, while the QUS measurements of the subjects with a Pp genotype were significantly lower than those of the subjects with PP or pp genotypes (p < 0.05). Conclusion: The results suggest that the PvuII and XbaI RFLPs of the ER1 gene may be genetic factors that affect QUS at the calcaneus.

Association of Estrogen Receptor-α Gene PvuII Polymorphisms with the Effect of Calcium Supplementation on Skeletal Development in Chinese Pubertal Girls

To investigate the association of estrogen receptor alpha (ER-alpha) PvuII polymorphisms with the effect of calcium supplementation on bone development in Chinese pubertal girls, and to study the importance of calcium supplementation by maximizing the peak bone mass at their pubertal stage for bone development and osteoporosis prevention and the role of estrogen in regulating bone mass. Ninety-four pubertal girls were recruited in the study and divided into two groups and three sub-groups according to the ER-alpha PvuII polymorphisms. One year before and after calcium supplementation, bone mineral density (BMD) was measured by DEXA, while BGP, BAP, TRACP5b, and 25-OH-VitD(3), as well as estrogen were detected by ELISA. Analysis of covariance was used to examine the effect of ER-alpha polymorphisms on bone development. The absolute increase and percentage change of BGP were significantly higher in the supplemented group than in the control group (P<0.05). In the intervened group, The increase and percentage change of the total body and radio distal 1/3 BMD were higher in PP than in PP genotype (P<0.05), and the increase of BAP in Pp was also higher than PP in the same group (P<0.05). PP genotype shows a better response to calcium supplementation than the other PvuII polymorphisms.