CYP17 genetic polymorphism in patients with endometrial hyperplasia and cancer

2006 ◽  
Vol 16 (Suppl 1) ◽  
pp. 448-451 ◽  
Author(s):  
M. Aban ◽  
M. Arslan ◽  
E. Tok ◽  
S. Tekes ◽  
T. Budak ◽  
...  
Keyword(s):  
Endometrial Cancer ◽  
Gene Polymorphism ◽  
Endometrial Hyperplasia ◽  
Venous Blood ◽  
Control Group ◽  
Normal Endometrium ◽  
Endometrial Cells ◽  
Genotype Frequencies ◽  
Cyp17 Gene ◽  
Significant Difference

We investigated the association of CYP17 gene polymorphism with the risk of having endometrial cancer and a well-known precursor of it, endometrial hyperplasia. Group A (control group) consisted of 35 patients who had histologically proven normal endometrium. Group B and C consisted of 18 and 30 patients who had endometrial hyperplasia with and without atypia, respectively. Group D consisted of 57 patients who had endometrial cancer. Venous blood samples were collected from patients in groups, and polymerase chain reaction was performed to determine the CYP17 gene polymorphism. Significant increase of A1/A1 and a decrease of A1/A2 genotype frequencies have been determined in patients with endometrial cancer and with atypical endometrial hyperplasia. No significant differences were found between groups in the frequency of A2/A2 genotype. There was no significant difference between the groups in the meaning of allele distributions. CYP17 polymorphism had correlation with endometrial atypia and cancer. Related effects of different types of CYP17 gene variants on the progression of hyperplastic endometrial cells into carcinoma should be evaluated in further studies. Progress in this area would help us modulate preventive treatments used in those actual high–risk group patients.

scholarly journals Apolipoprotein e gene polymorphism as a risk factor for ischemic cerebrovascular disease

2004 ◽  
Vol 23 (3) ◽  
pp. 255-264 ◽  
Author(s):  
Sanja Stankovic ◽  
Zagorka Jovanovic-Markovic ◽  
Nada Majkic-Singh ◽  
Aleksandra Stankovic ◽  
Sanja Glisic ◽  
...  
Keyword(s):  
Risk Factor ◽  
Gene Polymorphism ◽  
Cerebrovascular Disease ◽  
Apolipoprotein E ◽  
Apoe Genotype ◽  
Control Group ◽  
Ischemic Cerebrovascular Disease ◽  
Genotype Frequencies ◽  
Significant Difference ◽  
E4 Allele

The possible association of apolipoprotein E (apoE) DNA polymorphism with ischemic cerebrovascular disease was evaluated in 65 patients who had suffered completed stroke or transient ischemic attack and 330 healthy controls. ApoE genotypes were determined by restriction isotyping/MADGE analysis. Significant difference in apoE genotype frequencies between case and control group was observed (p<0.01). Patients affected by ischemic stroke had higher frequency of E4 allele and lower E2 allele than age-matched control subjects. Compared with persons without E4 allele, carriers of an E4 allele had 2.1 times higher risk of incident stroke. Our results indicate that the apoE gene polymorphism may be a risk factor for the development of ischemic cerebrovascular disease in Serbian population..

scholarly journals The PTENP1 Pseudogene, Unlike the PTEN Gene, Is Methylated in Normal Endometrium, As Well As in Endometrial Hyperplasias and Carcinomas in Middle-Aged and Elderly Females

Acta Naturae ◽  
2018 ◽  
Vol 10 (1) ◽  
pp. 43-50 ◽  
Author(s):  
T. F. Kovalenko ◽  
K. V. Morozova ◽  
L. A. Ozolinya ◽  
I. A. Lapina ◽  
L. I. Patrushev
Keyword(s):  
Endometrial Hyperplasia ◽  
Venous Blood ◽  
Mrna Translation ◽  
The Body ◽  
Pten Gene ◽  
Middle Aged ◽  
Normal Endometrium ◽  
Tissue Samples ◽  
Endometrial Cells ◽  
Age Related

The tumor suppressor PTEN controls multiple cellular functions, including cell cycle, apoptosis, senescence, transcription, and mRNA translation of numerous genes. In tumor cells, PTEN is frequently inactivated by genetic mutations and epimutations. The aim of this study was to investigate the methylation patterns of the PTEN gene and its pseudogene PTENP1 as potential genetic markers of endometrial hyperplasia (EH) and endometrial carcinoma (EC). Methylation of the 5-terminal regions of the PTEN and PTENP1 sequences was studied using methyl-sensitive PCR of genomic DNA isolated from 57 cancer, 43 endometrial hyperplasia, and normal tissue samples of 24 females aged 17-34 years and 19 females aged 45-65 years, as well as 20 peripheral venous blood samples of EC patients. None of the analyzed DNA samples carried a methylated PTEN gene. On the contrary, the PTENP1 pseudogene was methylated in all analyzed tissues, except for the peripheral blood. Comparison of PTENP1 methylation rates revealed no differences between the EC and EH groups (0.80 p 0.50). In all these groups, the methylation level was high (71-77% in patients vs. 58% in controls). Differences in PTENP1 methylation rates between normal endometrium in young (4%) and middle-aged and elderly (58%) females were significant (p 0.001). These findings suggest that PTENP1 pseudogene methylation may reflect age-related changes in the body and is not directly related to the endometrium pathology under study. It is assumed that, depending on the influence of a methylated PTENP1 pseudogene on PTEN gene expression, the pseudogene methylation may protect against the development of EC and/or serve as a marker of a precancerous condition of endometrial cells.

scholarly journals ASSOCIATION BETWEEN SERUM URIC ACID AND METABOLIC SYNDROME

2018 ◽  
Vol 11 (10) ◽  
pp. 400 ◽  
Author(s):  
Thaslima Nandhini Js ◽  
Savitha Basker G ◽  
Vishnupriya V
Keyword(s):  
Metabolic Syndrome ◽  
Uric Acid ◽  
Venous Blood ◽  
Fasting Blood Glucose ◽  
Control Group ◽  
Serum Triglycerides ◽  
Significant Difference ◽  
Disease Condition ◽  
Student’S T ◽  
Student’S T Test

Objective: Metabolic syndrome is a cluster of disease condition characterized by truncal obesity, hypertriglyceridemia, elevated blood pressure, and insulin resistance. An excessive circulating uric acid (UA) level even within normal range is always comorbid with metabolic syndrome and its components. The aim of the current study was to investigate the association between metabolic syndrome and serum UA level.Methods: A total of 60 subjects were divided into two groups of healthy (30 individuals) and metabolic syndrome patients (30 individuals) from dental outpatient department of Saveetha Dental College and Hospitals. 5 ml of fasting venous blood was collected in the plain collection tubes and centrifuged, and then serum was separated. Then, the serum was used to analyze the fasting blood glucose, serum triglycerides (TGLs), and serum UA by GOD-POD, enzymatic colorimetric, and uricase method, respectively. A statistical analysis was performed using Student’s t-test. p<0.05 was considered to be statistically significant.Result: Mean body mass index (BMI), fasting blood sugar (FBS), TGL, and UA level of control group were 23.36±1.81, 84.45±13.1, 110.9±22.6, and 3.48±1.21 respectively. Mean BMI, FBS, TGL, and UA level of study group were 35.24±3.04, 122.85±23.3, 212.1±39.6 and 9.08±2.63 respectively. There is a significant difference between these two groups with p<0.0001.Conclusion: This study showed that those individuals with metabolic syndrome have higher UA level that indicates hyperuricemia which is a significant predictor of metabolic syndrome.

BAG-1 expression in normal endometrium, endometrial hyperplasia and endometrial cancer

2008 ◽  
Vol 87 (8) ◽  
pp. 862-867 ◽  
Author(s):  
Jae Yun Song ◽  
Ji Won Kim ◽  
Jae Kwan Lee ◽  
Nak Woo Lee ◽  
Bom Woo Yeom ◽  
...  
Keyword(s):  
Endometrial Cancer ◽  
Endometrial Hyperplasia ◽  
Normal Endometrium

scholarly journals Examination of Haematotoxicity of Fixed-Dose Highly Active Antiretroviral Drug in Albino Wistar Rats

2012 ◽  
Vol 2012 ◽  
pp. 1-6
Author(s):  
Thomas Nubila ◽  
Ernest O. Ukaejiofo ◽  
Nkoyo I. Nubila ◽  
Godfrey I. Okorie
Keyword(s):  
Highly Active Antiretroviral Therapy ◽  
Wistar Rats ◽  
Venous Blood ◽  
Haemoglobin Concentration ◽  
Test Group ◽  
Mean Value ◽  
Fixed Dose ◽  
Control Group ◽  
Highly Active ◽  
Significant Difference

Highly active antiretroviral therapy (HAART) is considered toxic and has other life-threatening side effects. Our aim was to evaluate the haematotoxic effects of lamivudine, zidovudine, and nevirapine fixed-dose combinations in Albino Wistar rats. Fifty (50) three (3) months old male Albino Wistar rats weighing between 200 and 250 g were randomly assigned to five (5) groups (A, B, C, D, and E). Group A served as control. Two (2 mLs) of venous blood was aseptically collected on Days 5, 10, 15, 20, and 25 of treatment. Red blood cell (RBC) mean value recorded statistically significant increase () in groups B and C when compared with the control group on Day 5. However, there was a statistically significant decrease () in RBC, haemoglobin concentration (Hb), packed cell volume (PCV), and some red cell indices on Day 10. In addition there was no statistically significant difference () in all the parameters evaluated when the test group was compared with the control on Day 25. Furthermore, there was a time-related statistically significant increase () in the two major blood cells—RBC and platelet counts. From the result of this present study, it can be concluded that HAART when administered in fixed-dose combinations have no subacute haematotoxic effects.

scholarly journals CYP2E1-DEPENDENT VARIATIONS IN HEPATOCYTES DAMAGE DURING TREATMENT OF TUBERCULOSIS

2019 ◽  
Vol 16 (3) ◽  
pp. 20-26
Author(s):  
L.V. Natrus ◽  
L.V. Gayova ◽  
O.O. Gorkunenko ◽  
P.A. Chernovol ◽  
M.V. Zelinska
Keyword(s):  
Gene Polymorphism ◽  
Maintenance Therapy ◽  
Genomic Dna ◽  
Clinical Laboratory ◽  
Intensive Therapy ◽  
Venous Blood ◽  
Control Group ◽  
Drug Induced ◽  
Cyp2e1 Gene ◽  
Tb Treatment

Relevance. Investigation of polymorphism in a locus of CYP2E1 as the prognostic factor of drug-induced hepatotoxicity at anti-TB therapy is significant due to the influence of CYP2E1 on drug metabolism. The objective of the investigation is to analyze the association of rs2070676 СYP2E1 gene polymorphism with drug-induced hepatotoxicity by means of the clinical-laboratory values of serum transaminases at anti-TB treatment. Materials and methods. The study involved 47 patients with drug-susceptible tuberculosis first time discovered. 58 healthy volunteers comprised a control group. Laboratory indices were determined in venous blood three times: before the treatment as baseline; in 2 months of intensive therapy (isoniazid, rifampicin, ethambutol, pyrazinamide), then in 4 months of maintenance therapy (isoniazid, rifampicin). Serum activities of enzymes ALT, AST, and GGT were measured by standard algorithm on automatic analyzer BS-300. Analysis of rs2070676 polymorphism of CYP2E1 gene was performed by polymerase chain reaction using standard PureLink® Genomic DNA Kit for Purification of Genomic DNA; Manufacturer of INVITROGEN (USA). For statistical processing, IBM SPSS Statistics 23 was applied. Results. Investigation of serum ALT and AST in patients with major genotype CYP2E1 (C/C) showed the lower baseline ALT and AST levels comparing to the control group, which might be caused by suppression of hepatocytes functions at the development of the disease. Anti-TB treatment caused an increase in ALT and AST levels comparing to the baseline in patients with major CYP2E1 (C/C) genotype. In the group with C/G polymorphism, the baseline ALT level didn’t differ much from the baseline of the control group; it showed a decrease after intensive therapy and returned back to the initial level at maintenance therapy. This might be related to the certain protective property of СYP2E1 gene polymorphism. The AST level was increased after intensive therapy (to a smaller extent than for the patients with major C/C genotype) and remained on the same level at maintenance therapy. A study of GGT showed a gradual increase regardless of genotype. Conclusion. According to the data of the experiment, the status of hepatocytes in patients with tuberculosis at baseline and during treatment was different depending on the CYP2E1 genotype. The results of the experiment indicate that the CYP2E1 gene polymorphism has a certain protecting role. It reduces the level of drug metabolites and hepatotoxicity which causes mitochondrial dysfunction.

scholarly journals Association between Luteinizing Hormone/Choriogonadotropin Receptor Ins18LQ Gene Polymorphism and Polycystic Ovary Syndrome

2020 ◽  
Vol 8 (A) ◽  
pp. 517-520
Author(s):  
Hilma Putri Lubis ◽  
Muhammad Fidel Ganis Siregar ◽  
Ichwanul Adenin ◽  
Binarwan Halim ◽  
Henry Salim Siregar ◽  
...  
Keyword(s):  
Luteinizing Hormone ◽  
Polycystic Ovary Syndrome ◽  
Gene Polymorphism ◽  
Polycystic Ovary ◽  
Control Group ◽  
Control Groups ◽  
Ovary Syndrome ◽  
Significant Difference ◽  
Pcos Group ◽  
And Control

BACKGROUND: Polycystic ovary syndrome (PCOS) is one of the most common endocrine disorders of women in the childbearing period. However, its pathophysiology is still unclear. Certain polymorphisms of the luteinizing hormone/choriogonadotropin receptor (LHCGR) genes may lead to changes in the bioactivity of this hormone. The important functional role of LHCGR in the metabolism of androgen and ovulation, the LHCGR gene variant, may be related to the risk of PCOS. AIM: The aim of this study was to evaluate the association between LHCGR Ins18LQ gene polymorphism and PCOS. METHODS: A case–control study was performed in women with PCOS and non-PCOS from May 2019 to October 2019 in HFC IVF Center. We included 50 women with PCOS and 50 healthy controls. Polymorphism of the LHCGR (ins18LQ) gene was genotyped using polymerase chain reaction-restriction fragment length polymorphism. RESULTS: From this study, we found that there was no significant difference in the proportion of ages between the groups (p > 0.05). There were significant differences in the characteristics of body mass index, FSH level, LH level, and LH/FSH ratio between the PCOS and control groups (p < 0.05). We also found that the proportion of heterozygote variant non-ins/ins was higher in the PCOS group compared to the control group, but there was no significant difference between the polymorphisms of the non-ins and non-nonins variants between the PCOS and control groups (p = 0.269). The frequency of ins alleles was higher in the PCOS group compared to the control group. CONCLUSION: There was no significant association between LHCGR ins18LQ gene polymorphism and PCOS.

scholarly journals The Connection of the Level of Estradiol in Serum and Obesity with the Endometrial Bleeding in Postmenopausal Women

2019 ◽  
Vol 7 (1) ◽  
pp. 88-91 ◽  
Author(s):  
Valentina Tofiloska ◽  
Maria Krstevska ◽  
Ana Daneva-Markova ◽  
Viktorija Jovanovska
Keyword(s):  
Endometrial Cancer ◽  
Statistical Significance ◽  
Abnormal Uterine Bleeding ◽  
Control Group ◽  
Prospective Clinical Study ◽  
Study Group ◽  
Gynecology And Obstetrics ◽  
Increased Risk ◽  
Significant Difference ◽  
Post Menopausal

BACKGROUND: Postmenopausis is a period that begins one year after the last menstrual period. Abnormal uterine bleeding could be of different origins. AIM: This study aimed to determine the association of serum estrogen hormone levels and obesity with the occurrence of endometrial bleeding in post-menopausal women. MATERIAL AND METHODS: Prospective clinical study involving 120 postmenopausal patients treated at the University Clinic for Gynecology and Obstetrics-Skopje, divided into two groups: control and study. The control group consisted of 40 postmenopausal patients without endometrial bleeding, hospitalised and operated due to urogenital pathology. The study group consisted of 80 patients with endometrial bleeding who were divided into three subgroups according to the thickness of the endometrium: from 5-8 mm, 8-11 mm and above 11 mm. In all subjects, estradiol and BMI was determined. RESULTS: Estradiol levels were statistically higher in the study group compared to control while statistically significant difference among the three subgroups according to the thickness of the endometrium about the levels of estradiol in blood is not found. About BMI, the results showed that there was no statistical significance between the two examined groups. CONCLUSION: Patients with endometrial bleeding have increased levels of estradiol and are at increased risk of endometrial cancer about controls, the likelihood of endometrial cancer significantly increases by 1,108 times.

scholarly journals Polymorphism ofXRCC1,XRCC3, andXPDGenes and Risk of Chronic Myeloid Leukemia

2014 ◽  
Vol 2014 ◽  
pp. 1-9 ◽  
Author(s):  
Claudia Bănescu ◽  
Adrian P. Trifa ◽  
Smaranda Demian ◽  
Erzsebeth Benedek Lazar ◽  
Delia Dima ◽  
...  
Keyword(s):  
Complementation Group ◽  
Control Group ◽  
X Ray ◽  
Genotype Frequencies ◽  
Significant Difference ◽  
Variant Genotype ◽  
Group 3 ◽  
And Control ◽  
Group D ◽  
Repair Genes

The genetic polymorphisms of X-ray repair cross complementing group 1 (XRCC1), X-ray repair cross complementing group 3 (XRCC3), and xeroderma pigmentosum complementation group D (XPD) repair genes may lead to genetic instability and leukemogenesis. The purpose of the study was to evaluate the association betweenXRCC1Arg399Gln, Arg280His and Arg194Trp,XRCC3Thr241Met, andXPDLys751Gln polymorphisms and the risk of developing CML in Romanian patients. A total of 156 patients diagnosed with CML and 180 healthy controls were included in this study. We found no association between CML andXRCC1orXRCC3variant genotypes in any of the investigated cases. A significant difference was observed in the variant genotype frequencies of theXPDLys751Gln polymorphism between the patients with CML and control group (for variant homozygous genotypes,OR=2.37; 95%CI=1.20–4.67;Pvalue = 0.016 and for combined heterozygous and variant homozygous genotypes,OR=1.72; 95%CI=1.10–2.69;Pvalue = 0.019). This was also observed when analyzing the variant 751Gln allele (OR=1.54; 95%CI=1.13–2.11;Pvalue = 0.008). Our results suggest that theXPDLys751Gln variant genotype increases the risk of CML.

BTNL2 gene polymorphism and sarcoid uveitis

2019 ◽  
pp. bjophthalmol-2018-312949 ◽  
Author(s):  
Mayeul Chaperon ◽  
Yves Pacheco ◽  
Delphine Maucort-Boulch ◽  
Jean Iwaz ◽  
Laurent Perard ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphism ◽  
Gene Polymorphism ◽  
Nucleotide Polymorphism ◽  
Predisposing Factor ◽  
Single Nucleotide ◽  
Genotype Frequencies ◽  
Subgroup Ii ◽  
Significant Difference ◽  
Caucasian Women ◽  
Patient Subgroups

BackgroundUveitis is a frequent and early feature of sarcoidosis. As BTNL2 (butyrophilin-like 2) gene polymorphism was found linked with the susceptibility to sarcoidosis, we investigated whether a specific genotype of BTNL2 gene G16071A (or rs2076530) single-nucleotide polymorphism (SNP) would be associated with the risk of sarcoid uveitis in all patient subgroups.MethodsThe study compared the genotype frequencies of SNP G16071A of 135 patients with sarcoid uveitis (Sa+Uv+) with those of 196 patients with sarcoidosis without uveitis (Sa+Uv−), 81 patients with uveitis without sarcoidosis (Sa−Uv+), and 271 controls with no sarcoidosis nor uveitis (Sa−Uv−). Three hypothetical subgroups of patients with sarcoid uveitis (Sa+Uv+ cases) were considered: (1) subgroup I: patients aged <45 years of both sexes and all ethnic origins; (2) subgroup II: Caucasian women aged >45 years; and (3) subgroup III: all other patients.ResultsA statistically significant difference in genotype frequencies was found between the groups Sa+Uv− and Sa−Uv− (p=3.2×10−6) and between the groups Sa+Uv+ and Sa+Uv− (p=7.1×10−3). There was no difference between the three subgroups of Sa+Uv+ patients. There was a statistically significant difference in genotype frequencies between Sa+Uv− and Sa+Uv+ subgroup II (p=0.005) but no difference between Sa+Uv− and Sa+Uv+ subgroup I.ConclusionNo association was found between G16071A and the susceptibility to sarcoid uveitis. BTNL2 gene G16071A SNP seems to be a predisposing factor for sarcoidosis except in Caucasian postmenopausal women with sarcoid uveitis in whom the GG genotype prevails. These and future results will help in understanding differences between particular subgroups of patients with sarcoid uveitis.

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