scholarly journals A genetic variant rs13293512 in the promoter of let-7 is associated with an increased risk of breast cancer in Chinese women

2019 ◽  
Vol 39 (5) ◽  
Author(s):  
Ruifen Sun ◽  
Jianyu Gong ◽  
Ju Li ◽  
Zhiguo Ruan ◽  
Xiaomi Yang ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Odds Ratio ◽  
Genetic Variant ◽  
Fragment Length Polymorphism ◽  
Chinese Women ◽  
Taqman Assay ◽  
Polymorphism Analysis ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Increased Risk

Abstract Growing evidence has demonstrated that single-nucleotide polymorphisms (SNPs) in the promoter of miRNA may influence individuals’ susceptibility to human diseases. We examined two SNPs rs10877887 and rs13293512 in the promoters of let-7 family to determine if the two SNPs were related to the occurrence of breast cancer (BC). Genotyping of the two SNPs was performed by PCR and restriction fragment length polymorphism analysis or TaqMan assay in 301 BC patients and 310 age matched controls. We found a higher frequency of rs13293512 CC genotype and rs13293512 C allele amongst BC patients (CC vs TT: adjusted odds ratio (OR) = 1.78; 95% CI: 1.14–2.80; P=0.012; C vs T: adjusted OR = 1.33; 95% CI: 1.06–1.67; P=0.013). Stratification analysis showed that rs13293512 CC genotype was associated with an increased risk of BC in patients with negative estrogen receptor (adjusted OR = 2.39; 95% CI: 1.32–4.30; P=0.004), patients with negative progesterone receptor (adjusted OR = 1.92; 95% CI: 1.11–3.33; P=0.02), patients with T1-2 stage cancer (adjusted OR = 1.77; 95% CI: 1.07–2.93; P=0.03), and patients with N1-3 stage cancer (adjusted OR = 1.89; 95% CI: 1.13–3.17; P=0.015). These findings suggest that rs13293512 in the promoter of let-7a-1/let-7f-1/let-7d cluster may be a possible biomarker for the development of BC in Chinese women.

scholarly journals MassARRAY-based single nucleotide polymorphism analysis in breast cancer of north Indian population

BMC Cancer ◽  
2020 ◽  
Vol 20 (1) ◽  
Author(s):  
Divya Bakshi ◽  
Ashna Nagpal ◽  
Varun Sharma ◽  
Indu Sharma ◽  
Ruchi Shah ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Gene Mutations ◽  
Cost Effective ◽  
P Value ◽  
Polymorphism Analysis ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Cost Effective Method ◽  
Common Genetic Variants ◽  
Underlying Causes

Abstract Background Breast Cancer (BC) is associated with inherited gene mutations. High throughput genotyping of BC samples has led to the identification and characterization of biomarkers for the diagnosis of BC. The most common genetic variants studied are SNPs (Single Nucleotide Polymorphisms) that determine susceptibility to an array of diseases thus serving as a potential tool for identifying the underlying causes of breast carcinogenesis. Methods SNP genotyping employing the Agena MassARRAY offers a robust, sensitive, cost-effective method to assess multiple SNPs and samples simultaneously. In this present study, we analyzed 15 SNPs of 14 genes in 550 samples (150 cases and 400 controls). We identified four SNPs of genes TCF21, SLC19A1, DCC, and ERCC1 showing significant association with BC in the population under study. Results The SNPs were rs12190287 (TCF21) having OR 1.713 (1.08–2.716 at 95% CI) p-value 0.022 (dominant), rs1051266 (SLC19A1) having OR 3.461 (2.136–5.609 at 95% CI) p-value 0.000000466 (dominant), rs2229080 (DCC) having OR 0.6867 (0.5123–0.9205 at 95% CI) p-value 0.0116 (allelic) and rs2298881 (ERCC1) having OR 0.669 (0.46–0.973 at 95% CI), p-value 0.035 (additive) respectively. The in-silico analysis was further used to fortify the above findings. Conclusion It is further anticipated that the variants should be evaluated in other population groups that may aid in understanding the genetic complexity and bridge the missing heritability.

scholarly journals Genetic Variants in the Promoter Region of miR-10b and the Risk of Breast Cancer

2017 ◽  
Vol 2017 ◽  
pp. 1-7 ◽  
Author(s):  
Jiaping Chen ◽  
Yue Jiang ◽  
Jing Zhou ◽  
Sijun Liu ◽  
Yayun Gu ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Single Nucleotide Polymorphisms ◽  
In Silico ◽  
Promoter Region ◽  
Cancer Susceptibility ◽  
Chinese Women ◽  
Close Association ◽  
Breast Cancer Susceptibility ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide

Variants in microRNA genes may affect their expression by interfering with the microRNA maturation process and may substantially contribute to the risk of breast cancer. Recent studies have identified miR-10b as an interesting candidate because of its close association with the metastatic behavior of breast cancer. However, the roles of miR-10b-related single nucleotide polymorphisms in breast cancer susceptibility remain unclear. This case-control study evaluated the associations between variants in the upstream transcription regulation region of miR-10b and the risk of breast cancer among Chinese women. Seven potentially functional SNPs were investigated using genotyping assays. The potential biological functions of the identified positive SNPs were further evaluated using in silico databases. We found that rs4078756, which was located at the promoter region of miR-10b, was significantly associated with breast cancer risk (rs4078756 AG/GG versus AA, adjusted odds ratio: 1.17, 95% confidence interval: 1.02–1.35). The other six single nucleotide polymorphisms exhibited negative associations. Based on the in silico prediction, rs4078756 potentially regulated miR-10b expression through promoter activation or repression. These findings indicate that a potentially functional SNP (rs4078756) in the promoter region of miR-10b may contribute to breast cancer susceptibility among Chinese women.

scholarly journals LRRC3B polymorphisms contributed to breast cancer susceptibility in Chinese Han Population

2020 ◽  
Author(s):  
Tianbo Jin ◽  
Linna Peng ◽  
Shishi Xing ◽  
Dandan Li ◽  
Chunjuan He ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Poor Prognosis ◽  
Cancer Susceptibility ◽  
Breast Cancer Susceptibility ◽  
Suppressor Gene ◽  
Nucleotide Polymorphisms ◽  
Chinese Han ◽  
Single Nucleotide ◽  
Increased Risk ◽  
The Status

Abstract Purpose LRRC3B gene, as a tumor suppressor gene was involved in the development and progress of breast cancer (BC). However, the effect of LRRC3B polymorphisms on BC has rarely been reported. In the study, we aims to evaluate the relation between LRRC3B variants and BC risk. Methods Among 563 BC patients and 552 healthy controls, ten single-nucleotide polymorphisms (SNPs) in LRRC3B were genotyped by Agena MassARRAY. Odds ratios (OR) and 95% confidence interval (CI) was calculate using logistic regression model. Results Our study demonstrated that rs1907168 polymorphism (OR = 0.71, p = 0.017) reduced the risk of BC in the overall. In stratified analyses by age, rs1907168 decreased (OR = 0.53, p = 0.002) while rs78205284 (OR = 2.83, p = 0.034) increased BC susceptibility among the population at age ≤ 51 years. Clinical parameters such as tumor size, the status of PR and Ki67 were associated with LRRC3B variants. Furthermore, we found that the association of ‘GATT’ haplotype with an increased risk for BC. In addition, LRRC3B gene was down-regulated in BC tumor and had a poor prognosis in BC in silico analysis. Conclusion Our study firstly found LRRC3B SNPs contributed to the risk of BC, suggesting LRRC3B variants might help to predict BC progression.

IL1R2 Polymorphisms are Associated with Increased Risk of Esophageal Cancer

2020 ◽  
Vol 20 (5) ◽  
pp. 379-387
Author(s):  
Jianfeng Liu ◽  
Yonghui Yang ◽  
Haiyue Li ◽  
Yuanwei Liu ◽  
Yao Sun ◽  
...  
Keyword(s):  
Esophageal Cancer ◽  
Odds Ratio ◽  
Chinese Population ◽  
Additive Models ◽  
Nucleotide Polymorphisms ◽  
Chinese Han ◽  
Single Nucleotide ◽  
Han Population ◽  
Increased Risk ◽  
Prevention And Treatment

Background: Esophageal cancer (EC) is the sixth leading cause of cancer death worldwide, and the overall incidence is increasing. Objective: The aim of this study was to evaluate the association between single nucleotide polymorphisms in IL1R2 and EC risk in the Chinese population. Methods: Genotyping of six SNPs of IL1R2 was performed with the Agena MassARRAY platform from 384 EC and 499 controls. The association between polymorphisms and EC risk was assessed by performing genetics models and haplotype analyses. Results: Overall analysis results showed that the allele C of rs11674595 (odds ratio [OR] = 1.42, 95% confidence interval [CI]: 1.14-1.77, p = 0.002) and allele G of rs2072472 (allele: OR = 1.35, 95% CI: 1.08-1.69, p = 0.008) were associated with an increased EC risk. The rs11674595 and rs2072472 were found to be correlated with EC risk under the codominant, dominant, and additive models. Stratification analysis found that rs11674595 and rs2072472 were associated with increased EC risk in male and in age > 55 years old subgroup. In addition, Crs11674595Grs4851527 haplotype was significantly associated with 1.44-fold increased risk of EC (95% CI: 1.12-1.84, p = 0.004). Conclusions : Our results reveal the significant association between SNPs (rs11674595 and rs2072472) in the IL1R2 and EC risk in the Chinese Han population. The findings may provide meaningful reference for the prevention and treatment of EC.

scholarly journals An Association between Single Nucleotide Polymorphisms of Lys751GlnERCC2Gene and Ovarian Cancer in Polish Women

2015 ◽  
Vol 2015 ◽  
pp. 1-6 ◽  
Author(s):  
Magdalena M. Michalska ◽  
Dariusz Samulak ◽  
Hanna Romanowicz ◽  
Maciej Sobkowski ◽  
Beata Smolarz
Keyword(s):  
Ovarian Cancer ◽  
Gene Polymorphism ◽  
Fragment Length Polymorphism ◽  
Nucleotide Polymorphisms ◽  
Histological Grading ◽  
Single Nucleotide ◽  
Increased Risk ◽  
Pcr Rflp ◽  
Lys751gln Polymorphism

Aim.The aim of this study was to evaluate the role of the Lys751Gln (rs13181)ERCC2gene polymorphism in clinical parameters and the risk for development of ovarian cancer.Material and Methods.The study consisted of 430 patients with ovarian cancer (mean age: 53.2 ± 10.11) and 430 healthy subjects (mean age: 50.31 ± 18.21). Analysis of the gene polymorphisms was performed using the PCR-based restriction fragment length polymorphism (PCR-RFLP). The odds ratios (ORs) and 95% confidence intervals (CIs) for each genotype and allele were calculated.Results.The results obtained indicate that the genotype Gln/Gln is associated with an increased risk of ovarian cancer (OR 5.01; 95% CI 3.37–7.43;p<0.0001). Association of Lys751Gln polymorphism with histological grading showed increasedERCC2Gln/Gln (OR = 6.96; 95% CI 3.41–14.21;p<0.0001) genotype in grading 1 as well as Gln allele overrepresentation (OR = 4.98; 95% CI 3.37–7.40;p<0.0001) in G1 ovarian patients. Finally, with clinical FIGO staging under evaluation, an increase inERCC2Gln/Gln homozygote frequencies in staging I and Gln allele frequencies in SI were observed.Conclusion.On the basis of these results, we conclude thatERCC2gene polymorphism Lys751Gln may be associated with an increased risk of ovarian carcinoma.

scholarly journals Single-nucleotide polymorphisms of the ATM gene, which form a predisposition to breast and ovarian cancer in a population sample of the Chechen Republic

2020 ◽  
pp. 36-37
Author(s):  
З.И. Бисултанова ◽  
П.М. Джамбетова
Keyword(s):  
Breast Cancer ◽  
Ovarian Cancer ◽  
Population Sample ◽  
Control Group ◽  
Nucleotide Polymorphisms ◽  
Breast And Ovarian Cancer ◽  
Allele Polymorphism ◽  
Single Nucleotide ◽  
Increased Risk ◽  
Atm Gene

Были изучены два критических полиморфизма гена ATM, (rs664143 (A>G) и rs189037 (G> A) в выборке из 214 пациентов с раком молочной железы (РМЖ) и раком яичников (РЯ) и 389 женщин контрольной группы (≤45 лет), относящихся к чеченской популяции. Генотипирование выполнено методом ПЦР-анализа. Анализ сопряженности аллельных вариантов гена ATM c риском развития РМЖ и РЯ показал повышенный риск развития РЯ в случае носительства аллеля G полиморфизма rs189037, однако с РМЖ достоверных ассоциаций не выявлено. Two critical polymorphisms of the ATM gene, (rs664143 (A> G) and rs189037 (G> A), were studied in a sample of 214 patients with breast cancer and ovarian cancer and 389 women in the control group (≤45 years old) belonging to the Chechen population. An analysis of the conjugation of allelic variants of the ATM gene with a risk of developing breast and ovarian cancer showed an increased risk of developing ovarian cancer in case of carriage of the G allele polymorphism rs189037, but no reliable associations were found with breast cancer).

scholarly journals A Genetic Variant of BTLA Gene is Related with Increased Risk and Clinical Manifestations of Breast Cancer in Chinese Women

2020 ◽  
Author(s):  
Rui-Peng Zhao ◽  
Zhi Li ◽  
Chang Li ◽  
Kang Xu ◽  
Lin-Lin Zhen ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Genetic Variant ◽  
Chinese Women ◽  
Clinical Manifestations ◽  
Lymphocyte Activation ◽  
Premenopausal Women ◽  
Tumor Node Metastasis ◽  
Ki 67 ◽  
Increased Risk ◽  
The Relationship

Abstract Background: B and T lymphocyte attenuator (BTLA), an immunoinhibitory receptor, is shown to suppress the lymphocyte activation. Several studies addressed the relationship between BTLA rs1982809 polymorphism and cancer's risk. Methods: To identify the effects of this polymorphism on the risk of breast cancer (BC), this study was designed in Chinese women from China, Jiangsu Province. This study involved 324 BC patients and 412 controls.Results: We observed that BTLA rs1982809 polymorphism elevated the risk of BC. Similar finding was also shown in the subgroup of premenopausal women and those aged < 55 years old. In addition, this polymorphism correlated with the estrogen receptor (ER) status, C-erbB-2 status, Ki-67 status, tumor node metastasis (TNM) stage and tumor size of BC patients. Conclusions: Collectively, BTLA rs1982809 polymorphism shows a significant association with elevated risk and clinical features of BC in Chinese women. Further studies involving other races are urgently needed to replicate these findings.

scholarly journals Association of the Three Common SNPs of Cyclooxygenase-2 Gene (rs20417, rs689466, and rs5275) with the Susceptibility of Breast Cancer: An Updated Meta-Analysis Involving 34,590 Subjects

2014 ◽  
Vol 2014 ◽  
pp. 1-9 ◽  
Author(s):  
Zhi-Jun Dai ◽  
Yong-Ping Shao ◽  
Xiao-Bin Ma ◽  
Dan Xu ◽  
Wei Tang ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Breast Cancer Risk ◽  
Cancer Risk ◽  
Meta Analysis ◽  
Cyclooxygenase 2 ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Increased Risk ◽  
Cancer Types ◽  
Cox 2

Several single nucleotide polymorphisms have been identified in cyclooxygenase-2 (COX-2) genes (e.g., −765 G>C (rs20417), −1195G>A (rs689466), and 8473 C>T (rs5275)). The association of these SNPs with the risk of different cancer types is still controversial. This study aims to evaluate the correlation between these SNPs and breast cancer risk in different ethnic groups. We have searched PubMed, Web of Knowledge, and Embase for relevant studies. Odds ratios (ORs) with 95% confidence intervals (CIs) were used to estimate the strength of the associations. A total of 13 studies (15,330 cases and 19,260 controls) were eligible for meta-analysis. This meta-analysis showed that COX-2 rs20417 polymorphism was correlated with an increased risk of breast cancer in Caucasians, while rs689466 was associated with a decreased risk of breast cancer in Caucasians. The rs5275 polymorphism had no association with breast cancer risk.

scholarly journals G-1639A but Not C1173TVKORC1Gene Polymorphism Is Related to Ischemic Stroke and Its Various Risk Factors in Ukrainian Population

2016 ◽  
Vol 2016 ◽  
pp. 1-10 ◽  
Author(s):  
Yevhen I. Dubovyk ◽  
Viktoriia Yu. Harbuzova ◽  
Alexander V. Ataman
Keyword(s):  
Ischemic Stroke ◽  
Vitamin K ◽  
Protective Factor ◽  
Smoking Status ◽  
Transmembrane Protein ◽  
Polymorphism Analysis ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Increased Risk ◽  
Pcr Rflp

Vitamin K epoxide reductase complex subunit 1 (VKORC1) is integral 163-amino acid long transmembrane protein which mediates recycling of vitamin K 2,3-epoxide to vitamin K hydroquinone and it is necessary for activation of vitamin K-dependent proteins (VKDPs). Herein, the association between G-1639A (rs9923231) and C1173T (rs9934438) single-nucleotide polymorphisms (SNPs) of theVKORC1gene and ischemic stroke (IS) was tested in Ukrainian population. Genotyping was performed in 170 IS patients and 124 control subjects (total 294 DNA samples) using PCR-RFLP (polymerase chain reaction with following restriction fragment length polymorphism analysis) method. Our data showed that G-1639A but not C1173T polymorphism was related to IS, regardless of adjustment for age, sex, body mass index, smoking status, and arterial hypertension. The risk for IS in -1639A allele carriers (OR = 2.138,P=0.015) was higher than in individuals with G/G genotype. Haplotype analysis demonstrated that -1639G/1173T and -1639A/1173C were related to increased risk for IS (OR = 3.813,P=0.010,and OR = 2.189,P=0.011, resp.), while -1639G/1173C was a protective factor for IS (OR = 0.548,P<0.001). Obtained results suggested that -1639A allele can be a possible genetic risk factor for IS in Ukrainian population.

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