scholarly journals TNFAIP8L1 and FLT1 polymorphisms alter the susceptibility to cervical cancer amongst uyghur females in China

2019 ◽  
Vol 39 (7) ◽  
Author(s):  
Lili Han ◽  
Sulaiya Husaiyin ◽  
Chunhua Ma ◽  
Lin Wang ◽  
Mayinuer Niyazi
Keyword(s):  
Cervical Cancer ◽  
Logistic Regression ◽  
Regression Analysis ◽  
Odds Ratio ◽  
Linkage Disequilibrium Block ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Cervical Cancer Risk ◽  
Increased Risk ◽  
Stratified Analysis

Abstract TNFAIP8L1 and FLT1 play critical roles in the occurrence and development of tumors, but no in-depth studies have been carried out in cervical cancer. The present study aims to research the correlation between polymorphisms of these two genes and the risk of cervical cancer in the Uygur women. The study involved 342 cervical cancer patients and 498 healthy women. Five single nucleotide polymorphisms (SNPs) from the TNFAIP8L1 gene and the FLT1 gene were selected and genotyped. Odds ratio and 95% CIs were calculated by logistic regression analysis to evaluate the correlation between SNPs and cervical cancer risk. The alleles rs9917028-A (P=0.032), rs10426502-A (P=0.007), and rs1060555-G (P=0.026) of TNFAIP8L1 were associated with a decreased risk of cervical cancer. In the multiple genetic models, these three SNPs were also associated with the risk of cervical cancer. The stratified analysis showed that TNFAIP8L1-rs10426502, -rs1060555, and FLT1-rs9513111 were associated with a decreased risk of cervical cancer amongst people older than 43 years. Moreover, the haplotypes AG (P=0.007) and GC (P=0.026) of linkage disequilibrium block rs10426502|rs1060555 in TNFAIP8L1 were significantly associated with an increased risk of cervical cancer. Our results suggested that the relationships between TNFAIP8L1 and FLT1 polymorphisms and the risk of cervical cancer amongst Uyghur females.

scholarly journals Impacts of single nucleotide polymorphisms in three microRNAs (miR-146a, miR-196a2 and miR-499) on the susceptibility to cervical cancer among Indian women

2019 ◽  
Vol 39 (4) ◽  
Author(s):  
Nisha Thakur ◽  
Pallavi Singhal ◽  
Ravi Mehrotra ◽  
Mausumi Bharadwaj
Keyword(s):  
Cervical Cancer ◽  
Single Nucleotide Polymorphisms ◽  
Cancer Susceptibility ◽  
Hpv Infection ◽  
P Value ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Hpv Dna ◽  
Cervical Cancer Risk ◽  
Increased Risk

Abstract Background: Cervical cancer is the second major female cancer in India and constitutes one-fourth of the world’s burden. Human Papilloma Virus (HPV) infection is an essential but insufficient cause for cervical cancer. Genetic variants in microRNAs (miRNAs/miRs) play an important role in the susceptibility of various types of cancers. Objective: To evaluate the association of Single Nucleotide Polymorphisms (SNPs) in miR-146a (rs2910164), miR-196a2 (rs11614913), and miR-499 (rs3746444), with cervical cancer susceptibility in Indian population. Methods: Three hundred samples were genotyped by Polymerase chain reaction (PCR)-Restriction fragment length polymorphism (RFLP). Both patients and controls were also screened for the presence of HPV DNA. Results: In this case–control study, 125 (83.3%) cervical cancer cases were found to be infected with HPV DNA. The frequency of miR-146a C allele was higher in controls than in cases [odds ratio (OR) (95% confidence interval (CI)) = 0.81 (0.57–1.14), P-value = 0.258]. miR-196a2 T allele was found to be associated with the decreased risk of cervical cancer [OR (95% CI) = 0.36 (0.26–0.50), P-value<0.0001]. Approximately 1.22-fold increased risk has been observed in individuals carrying miR-499 TT genotypes [OR (95% CI) = 1.22 (0.63–2.36), P-value = 0.617]. Interaction studies for miR-196a2/miR-499 loci showed that women carrying TT/CC and TT/CT genotypes were less likely to develop cervical cancer than CC/CC combination [P<0.05]. Likewise, miR-146a/miR-196a2 genotypic combinations (CC/TT, CG/TT, GG/TT) followed the similar trend [P<0.05], exhibited the protective effect against cervical cancer with reference to CC/CC group. Combined genotypes of miR-146a/miR-499 [CC/CT, CG/CC, CG/CT, CG/TT, GG/CC, GG/CT, GG/TT] demonstrated a non-significant trend toward higher cervical cancer risk [OR > 1.00, P>0.05]. Conclusion: Polymorphisms in miR-146a, miR-196a2, and miR-499 individually or collectively have the prospective to emerge as biomarkers for cervical cancer.

scholarly journals XRCC2 R188H (rs3218536), XRCC3 T241M (rs861539) and R243H (rs77381814) Single Nucleotide Polymorphisms in Cervical Cancer Risk

2013 ◽  
Vol 19 (3) ◽  
pp. 553-558 ◽  
Author(s):  
Luis Orlando Pérez ◽  
Andrea Crivaro ◽  
Gisela Barbisan ◽  
Lucia Poleri ◽  
Carlos Daniel Golijow
Keyword(s):  
Cervical Cancer ◽  
Cancer Risk ◽  
Single Nucleotide Polymorphisms ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Cervical Cancer Risk

scholarly journals E2F1 genetic variants and risk of cervical cancer in Indian women

2018 ◽  
Vol 33 (4) ◽  
pp. 389-394 ◽  
Author(s):  
Sanjay Singh ◽  
Manish Gupta ◽  
Rajeev Kumar Seam ◽  
Harish Changotra
Keyword(s):  
Cervical Cancer ◽  
Cancer Risk ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Indian Women ◽  
Altered Expression ◽  
Cervical Cancer Risk ◽  
Genotype Frequencies ◽  
Pcr Rflp

Introduction: Altered expression of many E2F family members have been reported in various human cancers. In this study, we investigated the role of non-synonymous single nucleotide polymorphisms (rs3213172 C/T, rs3213173 C/T, and rs3213176 G/A) of the gene E2F1 with cervical cancer. Methods: A total of 181 samples including 90 cervical cancer patients and 91 healthy controls were genotyped. The genotype frequencies of these polymorphisms in collected samples were determined by either PCR-RFLP or PCR-ARFLP methods. SHEsis software was used to analyze the haplotypes. Results: Statistically significant differences in the alleles and the genotypes frequencies were observed in rs3213172 (C/T) and rs3213173 (C/T) polymorphisms. The rs3213172 (C/T) polymorphism was a risk factor for cervical cancer in dominant model (odds ratio (OR) 1.96; 95% confidence interval (CI) 1.07, 3.60; P = 0.02) and heterozygous model (OR 1.90; 95% CI 1.01, 3.57; P = 0.04). The rs3213173 (C/T) polymorphism increased the risk of cervical cancer in the homozygous model (OR 2.71; 95% CI 1.11, 6.58; P = 0.02). The rs3213176 (G/A) polymorphism was not associated with cervical cancer risk in any of the genotypic models. In the haplotypes analysis, three haplotypes (CTG, TCG, and TTA) were associated with the cervical cancer risk. Conclusions: These findings revealed that rs3213172 (C/T) and rs3213173 (C/T) polymorphisms and haplotypes (CTG, TCG, and TTA) of the E2F1 gene might play role in the susceptibility of cervical cancer. This is the first report showing an association of these polymorphisms with the cervical cancer risk.

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 Genetic variants in CYP4F2 were significantly correlated with susceptibility to ischemic stroke

2019 ◽  
Vol 20 (1) ◽  
Author(s):  
Yuan Wu ◽  
Junjie Zhao ◽  
Yonglin Zhao ◽  
Tingqin Huang ◽  
Xudong Ma ◽  
...  
Keyword(s):  
Ischemic Stroke ◽  
Nucleotide Polymorphisms ◽  
Chinese Han ◽  
Single Nucleotide ◽  
Increased Risk ◽  
Chi Squared ◽  
Cytochrome P450 Family ◽  
Stratified Analysis ◽  
Control Study

Abstract Background Ischemic stroke (IS) is a serious cardiovascular disease and is associated with several single nucleotide polymorphisms (SNPs). However, the role of Cytochrome P450 family 4 subfamily F member 2 (CYP4F2) gene in IS remains unknown. Our study aimed to explore whether CYP4F2 polymorphisms influenced IS risk in the Han Chinese population. Methods We selected 477 patients and 495 controls to do a case-control study, and five SNPs in CYP4F2 gene were successfully genotyped. And we evaluated the associations using the Chi-squared test, independent sample t test, and genetic models analyses. Logistic regression analysis was used to calculate odds ratios (ORs) and 95% confidence intervals (CIs). Results In this study, rs12459936 and rs3093144 were associated with IS risk in the overall. After stratified analysis by age (> 61 years), rs3093193 and rs3093144 were related to an increased risk of IS, whereas rs12459936 was related to a decreased risk of IS. In addition, we found that three SNPs (rs3093193, rs3093144 and rs12459936) were associated with the susceptibility to IS in males. We also found five SNPs in the CYP4F2 gene had strong linkage. Conclusions Three SNPs (rs3093193, rs3093144 and rs12459936) in the CYP4F2 were associated with IS risk in a Chinese Han population. And, CYP4F2 gene may be involved in the development of IS.

A single nucleotide polymorphism in the IRF5 promoter region is associated with susceptibility to rheumatoid arthritis in the Japanese population

2008 ◽  
Vol 68 (3) ◽  
pp. 377-383 ◽  
Author(s):  
K Shimane ◽  
Y Kochi ◽  
R Yamada ◽  
Y Okada ◽  
A Suzuki ◽  
...  
Keyword(s):  
Rheumatoid Arthritis ◽  
Human Leukocyte ◽  
Promoter Polymorphism ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Leukocyte Antigen ◽  
Asian Populations ◽  
Increased Risk ◽  
Stratified Analysis ◽  
Japanese Subjects

Objectives:Interferon regulatory factor 5 (IRF5) is a member of the IRF family of transcription factors, which regulate the production of proinflammatory cytokines. Polymorphisms in the IRF5 gene have been associated with susceptibility to systemic lupus erythaematosus (SLE) in Caucasian and Asian populations, but their involvement in other autoimmune diseases is still uncertain. Here, we assessed the genetic role of IRF5 in susceptibility to rheumatoid arthritis (RA) in Japanese subjects.Methods:We selected 13 single nucleotide polymorphisms (SNPs) and a CGGGG insertion–deletion polymorphism in the IRF5 gene. We performed 2 sets of case–control comparisons using Japanese subjects (first set: 830 patients with RA and 658 controls; second set: 1112 patients with RA and 940 controls), and then performed a stratified analysis using human leukocyte antigen (HLA)-DRB1 shared epitope (SE) status. We genotyped the SNPs using TaqMan assays.Results:A significant association of the rs729302 A allele with RA susceptibility was found in both sets (odds ratio (OR) 1.22, 95% CI 1.09 to 1.35, p<0.001 in the combined analysis). When the patients were stratified by the SE, the rs729302 A allele was found to confer increased risk to RA in patients that were SE negative (OR 1.50, 95% CI 1.17 to 1.92, p = 0.001) as compared with patients carrying the SE (OR 1.11, 95% CI 0.93 to 1.33, p = 0.24). In both sets, no genotyped polymorphisms were significantly associated with RA susceptibility, but rs729302 was significantly associated.Conclusions:These findings indicate that the promoter polymorphism of IRF5 is a genetic factor conferring predisposition to RA, and that it contributes considerably to disease pathogenesis in patients that were SE negative.

scholarly journals rs1840680 single nucleotide polymorphism in Pentraxin 3: a potential protective biomarker of severe community-acquired pneumonia

2021 ◽  
Vol 49 (4) ◽  
pp. 030006052110106
Author(s):  
Qiaojun Zeng ◽  
Tiantian Tang ◽  
Biru Huang ◽  
Shiyi Bu ◽  
Yingqi Xiao ◽  
...  
Keyword(s):  
Logistic Regression ◽  
Regression Analysis ◽  
Logistic Regression Analysis ◽  
Lower Risk ◽  
Multivariate Logistic Regression Analysis ◽  
Community Acquired Pneumonia ◽  
Clinical Severity ◽  
Pentraxin 3 ◽  
Single Nucleotide ◽  
Increased Risk

Objective Single nucleotide polymorphisms (SNPs) of pentraxin 3 ( PTX3) are associated with various outcomes of lung infections. This study aimed to analyze the relationship between PTX3 polymorphisms and the severity of community-acquired pneumonia (CAP). Methods This is a retrospective case-control study comprising 43 patients with severe CAP (SCAP) and 97 patients with non-severe CAP. Three SNPs in the PTX3 gene (rs2305619, rs3816527, and rs1840680) from peripheral blood samples were genotyped by real-time polymerase chain reaction. The association between each SNP and the CAP severity was analyzed by logistic regression analysis. Results We found that the rs1840680 polymorphism was significantly associated with CAP clinical severity. However, no such association was observed for the genotypes and allele frequencies of rs2305619 or rs3816527. The PTX3 rs1840680 AG genotype was an independent factor for a lower risk of SCAP after multivariate logistic regression analysis. Male sex and coronary heart disease were associated with an increased risk of SCAP. Conclusions The PTX3 rs1840680 AG genotype was found to be associated with a lower risk of SCAP, and may serve as a potential protective biomarker to help clinical judgment and management.

Neuraxial analgesia is not associated with an increased risk of post-partum relapses in MS

2018 ◽  
Vol 25 (4) ◽  
pp. 591-600 ◽  
Author(s):  
Caroline Lavie ◽  
Fabien Rollot ◽  
Françoise Durand-Dubief ◽  
Romain Marignier ◽  
Iuliana Ionescu ◽  
...  
Keyword(s):  
Multiple Sclerosis ◽  
Logistic Regression ◽  
Regression Analysis ◽  
Odds Ratio ◽  
Post Partum ◽  
Neuraxial Analgesia ◽  
Increased Risk ◽  
Obstetrical Analgesia ◽  
The Impact ◽  
Risk Of Relapse

Background: Obstetrical analgesia remains a matter of controversy because of the fear of neurotoxicity of local anesthetics on demyelinated fibers or their potential relationship with subsequent relapses. Objective: To assess the impact of neuraxial analgesia on the risk of relapse during the first 3 months post-partum, with a focus on women who experienced relapses during pregnancy. Methods: We analyzed data of women followed-up prospectively during their pregnancies and at least 3 months post-partum, collected in the Pregnancy in Multiple Sclerosis (PRIMS) and Prevention of Post-Partum Relapses with Progestin and Estradiol in Multiple Sclerosis (POPARTMUS) studies between 1992–1995 and 2005–2012, respectively. The association of neuraxial analgesia with the occurrence of a post-partum relapse was estimated by logistic regression analysis. Results: A total of 389 women were included, 215 from PRIMS and 174 from POPARTMUS. In total, 156 women (40%) had neuraxial analgesia. Overall, 24% experienced a relapse during pregnancy and 25% in the 3 months post-partum. Women with a pregnancy relapse were more likely to have a post-partum relapse (odds ratio (OR) = 1.83, p = 0.02), independently of the use of neuraxial analgesia. There was no association between neuraxial analgesia and post-partum relapse (OR = 1.08, p = 0.78). Conclusion: Neuraxial analgesia was not associated with an increased risk of post-partum relapses, whatever multiple sclerosis (MS) activity during pregnancy.

scholarly journals The association of polymorphisms in lncRNA-H19 with hepatocellular cancer risk and prognosis

2018 ◽  
Vol 38 (5) ◽  
Author(s):  
Ming-li Yang ◽  
Zhe Huang ◽  
Qian Wang ◽  
Huan-huan Chen ◽  
Sai-nan Ma ◽  
...  
Keyword(s):  
Odds Ratio ◽  
Hazard Rate ◽  
Poor Prognosis ◽  
Haplotype Analysis ◽  
Hepatocellular Cancer ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
H19 Gene ◽  
Stratified Analysis ◽  
Related Mortality

Hepatocellular cancer (HCC) is one of the major causes of cancer-related mortality. Genetic polymorphisms may affect the susceptibility and clinical outcomes of cancers. We aim to manifest the association of single nucleotide polymorphisms (SNPs) of lncRNA-H19 gene with the risk and prognosis of HCC. A total of 944 samples composed of 472 HCC patients and 472 matched controls were included in the risk analysis and amongst them 350 HCC samples were investigated in the prognosis analysis. KASP method was conducted for the SNP genotyping. The TT + CT genotype of rs2839698 was found to be associated with a 1.32-fold increased HCC risk (P=0.037, 95% confidence interval (CI) = 1.02–1.70). In the stratified analysis, rs2839698 (odds ratio (OR) = 1.57, P=0.007, 95% CI = 1.13–2.18) and rs3024270 (OR = 1.71, P=0.019, 95% CI = 1.09–2.68) were found to show more obvious increased HCC risk in the age ≤60 subgroup. And we found that rs2839698 showed an increased HCC risk in the ever smoking subgroup. But in the male subgroup of rs2735971, it showed a decreased HCC risk. Furthermore, haplotype analysis showed that rs2735971-rs2839698-rs3024270 G-T-C significantly increased the risk of HCC (OR = 1.23, 95% CI = 1.01–1.51, P=0.043). Multilogistic analysis revealed no significant results of the interaction effects of the SNPs and environment factors. And in our study, rs2839698 showed a significant poor prognosis in the ever smoking subgroup (hazard rate (HR) = 5.19, 95% CI = 1.12–24.07, P=0.035). lncRNA-H19 rs2839698 SNP has the potential to be predictors for HCC risk and prognosis.

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.

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