ASSOCIATION STUDY BETWEEN ANGIOTENSIN II TYPE 2 RECEPTOR (T1247G and A5235G) POLYMORPHISMS AND BREAST CANCER AMONG EGYPTIAN FEMALES (original) (raw)
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RAS polymorphisms in cancerous and benign breast tissue
Journal of the Renin-Angiotensin-Aldosterone System, 2010
Recent information has revealed new roles in the angiogenic processes linked to the rennin-angiotensin system. To date few studies have been done on the association between RAS genes and cancer and the majority focus mainly on angiotensin I-converting enzyme (ACE). For breast cancer there are three reports that include the angiotensin II receptor, subtype 1 (AGTR1), only one for angiotensinogen (AGT) and none for renin gene (REN). In the present study we investigate whether REN (BglI), AGT (M235T), ACE (A245T, Indel), and AGTR1 (A1166C) are associated with breast cancer. Polymorphisms were analysed by PCR and RFPLs or sequence specific assay in three groups: breast cancer, benign breast disease (BBD) and general population. REN polymorphism shows that homozygous for A allele have an increased risk for BBD. Differences in M235T genotype frequencies were significant with less heterozygous in breast cancer. With different risk values ACE indel was associated with BBD and breast cancer....
Journal of Cancer Therapy, 2013
Background: Breast cancer is the most common type of cancer among women. Diagnosed and treated timely, patients may have good prognostics. In Brazil, in 2012, the estimate of new cases was 52,680 and the number of registered deaths in 2012 was 12,852. The Renin-Angiotensin System (RAS) is known for its role in arterial hypertension and in other cardiovascular diseases. Angiotensin-Converting Enzyme 2 (ACE2) is the key to Ang-(1-7) formation, and counterbalances the ACE1/AngII/AGTR1 axis actions. RAS components have complex interactions with different tissues and their actions are not restricted to the cardiovascular system. Recently, the RAS has been associated with different types of cancers and in particular with gynecological cancers. Objectives: Our aim is to investigate possible associations between allelic distribution of two genetic polymorphisms in the AGTR2 receptor with ACEs 1 and 2 plasma levels among women with breast cancer. Patients and Methods: Patients with breast cancer were genotyped for two polymorphisms of the AGTR2 (T1247G and A5235G). Genotyping assays (TaqMan) were performed with genomic DNA extracted from blood cells. ACEs plasma level measurements were conducted in women from the breast-cancer group (N = 53). ACEs were measured in the plasma of these patients using ELISA kits. Results: SNPs genotype distribution is correlated with ACEs plasma levels. ACEs plasma levels are also correlated with clinical variables and ACE2 high levels are associated with better prognostics. Conclusions: Changes in circulating levels of ECA1/AngII ECA2/ Ang-(1-7) determine the magnitude of the inflammatory response that an individual can trigger and the variation in ACE 1 and 2 plasma level measurements in the blood of breast cancer patients suggests an association with the process of mammary carcinogenesis. Thus, the RAS may be associated with the process of mammary carcinogenesis by both genotypic variations of RAS components and by circulating levels of ACEs.
Translational oncology, 2018
Renin angiotensin system (RAS) comprising Angiotensin converting enzyme (ACE), Angiotensin II (Ang II) and its receptor Angiotensin II receptor type I (AGTR1), plays a critical role in several diseases including cancer. A single nucleotide polymorphism (SNP) A1166C located in 3' untranslated region (UTR) of AGTR1 and an insertion/deletion (I/D) polymorphism present in intron 16 of ACE gene have been associated with many diseases, but their association with Breast cancer (BCa) is still debatable. Here, we for the first time investigated the association of these polymorphisms in a North Indian BCa cohort including 161 patients and 152 healthy women. The polymorphisms were evaluated by polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP) respectively. The association between these polymorphisms and BCa risk was estimated by calculating Odds Ratio (OR) and chi-square (χ) test. The DD genotype/D allele of ACE (I/D) polymorphism and "AC and CC"...
Journal of The Renin-angiotensin-aldosterone System, 2009
Introduction. We evaluated the association between components of the renin-angiotensin system and the development of breast cancer in a case-control study by means of angiotensinconverting enzyme (ACE) insertion/deletion (I/D) and angiotensin II type 1 (AT 1 )-receptor A1166C polymorphisms. Methods. Genotyping was performed by PCR-RFLP (restriction fragment length polymorphism) or PCR (polymerase chain reaction) using genomic DNA extracted from buccal cells of subjects with (101 cases) or without (307 controls) breast cancer. Results. The frequencies of genotypes for ACE were: DD, ID and II (in %: cases: 60; 20; 20; controls: 46; 37; 17; p=0.019, χ 2 ); and for AT 1receptor were: AA, AC and CC (in %: cases: 65; 30; 5; controls: 51; 44; 5; p=0.114, χ 2 ). The results suggested that the A1166C polymorphism was not associated with breast cancer risk. On the other hand, for the ACE (I/D), there seemed to be different risks for cancer between cases and controls. Conclusions. The ID genotype was less frequently associated with the disease than were the DD or II; that is, women with the ID genotype were 3.1 times less likely to develop breast cancer than those with the other genotypes. The ID genotype might be protective against breast cancer and the ACE (I/D) polymorphism a possible target for developing genetic markers for breast cancer.
Polymorphisms in RAD51 and their relation with breast cancer in Saudi females
OncoTargets and Therapy, 2016
The present study aimed at investigating the relationship between rs1801320 (G.C), rs1801321 (G.T), and rs2619681 (C.T) RAD51 gene polymorphisms and the risk of breast cancer development in Saudi females. The genotypes were analyzed using TaqMan genotyping assay and polymerase chain reaction-restriction fragment length polymorphism. The genotype and allele frequencies were computed using chi-square or Fisher's exact test (two-tailed) by SPSS 21 software. The results showed that rs1801321G.T GG genotype and G allele frequency were strongly (P,0.0001) related to an elevated risk of breast cancer, while the mutant T allele appeared to provide protection against breast cancer development as observed from the significantly lower (P,0.0001) frequencies of the TT and GT genotypes in cancer patients compared to the healthy controls. The variant rs1801320G.C showed no significant differences in the frequencies of the genotypes and alleles in the patients and the control groups. The CC genotype and C allele frequency of rs2619681 (C.T) variant were significantly (P=0.012) higher in cancer patients, whereas the T allele showed a protective effect against cancer development. The frequencies of the three single-nucleotide polymorphisms did not differ in cancer patients with different tumor grades and human epidermal growth factor receptor 2 status (+ or −). However, the genotype frequency of rs1801320 (135G.C) differed in the patients with estrogen receptor (ER)+ and ER−, where CC genotype showed a significantly higher prevalence in the females with ER− who were suffering from breast cancer. In addition, the frequency of C allele of rs2619681 (C.T) was also significantly higher in the breast cancer patients who were ER+ and progesterone receptor (PR)+ compared to those with ER− and PR−. In the Saudi females, rs1801320 did not show an association with risk of breast cancer. Taken together, the results suggest that RAD51 rs1801321 polymorphism may be involved in the etiology of breast cancer in the Saudi females; however, further studies are necessary to confirm this relation.
Impacts of RETN genetic polymorphism on breast cancer development in Beni-Suef females, Egypt
Egyptian Journal of Immunology, 2023
The adipokine resistin is linked with obesity, inflammation and various cancers, including breast cancer. This study sought to determine whether certain polymorphisms in the gene encoding resistin, RETN, increase the risk of breast cancer susceptibility. We analyzed levels of resistin expression in breast cancer tissue and samples from The Cancer Genome Atlas database. We also examined associations between four RETN single nucleotide polymorphisms (SNPs; rs3745367, rs7408174, rs1862513 and rs3219175) and breast cancer susceptibility in 515 patients with breast cancer and 541 healthy women without cancer. Compared with wild-type (GG) carriers, those carrying the AG genotype of the RETN SNP rs3219175 and those carrying at least one A allele in the SNP rs3219175 had a higher chance of developing breast cancer (adjusted odds ratio, AOR: 1.295, 95% confidence intervals, CI: 1.065-1.575 and 2.202, 1.701-2.243, respectively). When clinical aspects and the RETN SNP rs7408174 were examined in the breast cancer cohort, the CT genotype was linked to late-stage disease, while women with luminal A disease and at least one C allele were likely to progress to stage III/IV disease and to develop highly pathological grade III disease. Moreover, resistin-positive individuals were at greater risk than resistin-negative individuals for developing pathological grade III disease (OR: 5.020; 95% CI: 1.380-18.259). This study details risk associations between resistin and RETN SNPs in breast cancer susceptibility in Chinese Han women.
Genes & genetic systems, 2018
Breast cancer is the most common cancer in women worldwide. Breast tumorigenesis encompasses both extrinsic and intrinsic factors. Among intrinsic aspects, the appearance of DNA variation can cause genetic instability, which may lead to carcinogenesis. Genome-wide association studies have found several potential breast cancer-associated single nucleotide polymorphisms (SNPs) in many different populations. Among these, seven (rs2046210, rs1219648, rs3817198, rs3803662, rs889312, rs10941679 and rs13281615) have been shown to be significantly associated with breast cancer risk in various populations including those very similar to the Vietnamese. Here, therefore, we have investigated the relationship between these SNPs and breast cancer risk in a Vietnamese population case-control cohort. Real-time PCR high-resolution melt analysis was performed to genotype 300 breast cancer cases and 325 healthy controls, and the association between the seven SNPs and breast cancer risk was determined...
Asian Journal of Biochemistry, Genetics and Molecular Biology, 2022
Background: According to GLOBOCAN estimates, breast cancer was found to be the most often diagnosed cancer in women worldwide, (11.7 %) and the fourth leading cause of cancer mortality (6.9 %). Aim: The purpose of this study is to investigate the role of the Angiotensin I-converting enzyme (ACE) gene polymorphism in breast cancer prediction risk in Egyptian population. Methods: Polymorphism detection analysis was performed on 163 subjects from breast cancer (BC) patients, 79 with Benign Breast Disease group (BBD) patients and 202 controls (C). ACE I/D (rs1799752) polymorphism were detected using polymerase chain reaction (PCR). Results: The observed genotype frequencies were II 10.9%, ID 78.2% and DD 10.9% in healthy control, II 8.6%, ID 79.1% and DD 12.3% in BC patients and II 12.6%, ID 78.4% and DD 9% in BBD patients. There were no association between ACE gene polymorphisms, between the BC or BBD groups when compared to the control group (ORDD= 1.43, 95 % CI= (0.58-3.52), P= 0.29)...