scholarly journals Rs4612666 Polymorphism of the NLRP3 Gene Is Associated with the Occurrence of Large Artery Atherosclerotic Ischemic Strokes and Microembolic Signals

2018 ◽  
Vol 2018 ◽  
pp. 1-9 ◽  
Author(s):  
Lufeng Cheng ◽  
Ruihua Yin ◽  
Shaonan Yang ◽  
Xudong Pan ◽  
Aijun Ma
Keyword(s):  
Gene Polymorphism ◽  
Gene Polymorphisms ◽  
Direct Sequencing ◽  
Receptor Protein ◽  
Large Artery ◽  
Chinese Han ◽  
Nlrp3 Gene ◽  
Increased Risk ◽  
Pcr Rflp ◽  
Positive Rate

Purpose. Large artery atherosclerosis (LAA) ischemic stroke (IS) is the most common IS subtype, and microemboli are clinically important for indicating an increased risk of IS. Nucleotide-binding domain-like receptor protein 3 (NLRP3) plays a crucial role in the pathogenesis of atherosclerosis. The aim of this study is to investigate the relationship between NLRP3 gene polymorphisms and susceptibility for LAA IS and microembolic signals (MES) in the Chinese Han population. Methods. We studied 293 patients diagnosed with LAA IS and 265 controls. Transcranial Doppler (TCD) was used to monitor the MES in all of the patients. Depending on the presence or absence of MES, the patients were divided into MES-positive and MES-negative subgroups. PCR-RFLP or direct sequencing were used to analyze three NLRP3 gene polymorphisms. Results. Seventy-six patients presented with MES and the MES-positive rate was 25.94%. Logistic regression analysis showed that the TT genotype frequency for the rs4612666 gene polymorphism was higher in study patients than in the controls (adjusted P=0.001) and higher in MES-positive patients compared to MES-negative patients (adjusted P=0.015). The T allele of rs4612666 was associated with an increased risk for developing LAA IS and MES (P=0.001; P=0.015, resp.). Prevalence of the CCC haplotype was higher in the controls than in the patients (P=0.009) and prevalence of the TGT haplotype was lower in the controls than in the patients (P=0.019). Conclusions. The NLRP3 rs4612666 gene polymorphism may be related to the occurrence of LAA IS and MES, suggesting that the NLRP3 gene polymorphism increases the susceptibility of LAA IS by changing the plaque vulnerability.

scholarly journals Association between AXIN1 Gene Polymorphisms and Bladder Cancer in Chinese Han Population

2019 ◽  
Vol 2019 ◽  
pp. 1-8 ◽  
Author(s):  
Qin Li ◽  
Peng Zhang ◽  
Yanyun Wang ◽  
Yan Zhang ◽  
Kai Li ◽  
...  
Keyword(s):  
Bladder Cancer ◽  
Gene Polymorphisms ◽  
Protective Factor ◽  
Nucleotide Polymorphisms ◽  
Chinese Han ◽  
Potential Association ◽  
Increased Risk ◽  
Pcr Rflp ◽  
Poor Differentiation ◽  
Muscle Invasive

Background. Previous evidence has indicated that the reduction of axis inhibition protein 1 (AXIN1) expression is related with the poor differentiation of non-small-cell lung cancer (NSCLC). However, the potential association between AXIN1 and bladder cancer (BC) is unknown. We aimed to initially explore the relevance of AXIN1 gene polymorphisms (rs12921862 C/A, rs1805105 T/C, and rs370681 C/T) and BC. Methods. Three hundred and sixteen BC patients and 419 healthy controls had been enrolled. Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method was used for genotyping three tag single-nucleotide polymorphisms (SNPs) of AXIN1. The SNPstats online analysis software and SPSS software were used for statistical analysis. Results. Our data revealed that three tag SNPs were associated with an increased risk of BC (rs12921862: P<0.001, OR 95%CI=4.61 (3.13-6.81); rs1805105: P=0.046, OR 95%CI=1.35 (1.00-1.82); and rs370681: P=0.004, OR 95%CI=1.56 (1.15-2.10)). For rs12921862, A allele was an independently protective factor which correlated with a better prognosis in non-muscle-invasive bladder cancer (NMIBC) patients (P=0.03, OR 95%CI=0.10 (0.01-0.84)). Stratification analysis demonstrated that rs370681 polymorphism was related with high-grade bladder cancer (P=0.04, OR 95%CI=1.85 (1.04-3.23)). Conclusion. The AXIN1 gene polymorphisms might implicate in BC risk, and rs12921862 could be a potential forecasting factor for prognosis of BC patients.

scholarly journals Impact of polymorphisms in DNA repair genes XPD, hOGG1 and XRCC4 on colorectal cancer risk in a Chinese Han Population

2019 ◽  
Vol 39 (1) ◽  
Author(s):  
Dexi Jin ◽  
Min Zhang ◽  
Hongjun Hua
Keyword(s):  
Colorectal Cancer ◽  
Gene Polymorphisms ◽  
Colorectal Carcinogenesis ◽  
Chinese Han Population ◽  
Control Group ◽  
Chinese Han ◽  
Han Population ◽  
Increased Risk ◽  
Hogg1 Gene ◽  
Repair Genes

Abstract Background: This research aimed to study the associations between XPD (G751A, rs13181), hOGG1 (C326G, rs1052133) and XRCC4 (G1394T, rs6869366) gene polymorphisms and the risk of colorectal cancer (CRC) in a Chinese Han population. Method: A total of 225 Chinese Han patients with CRC were selected as the study group, and 200 healthy subjects were recruited as the control group. The polymorphisms of XPD G751A, hOGG1 C326G and XRCC4 G1394T loci were detected by the RFLP-PCR technique in the peripheral blood of all subjects. Results: Compared with individuals carrying the XPD751 GG allele, the A allele carriers (GA/AA) had a significantly increased risk of CRC (adjusted OR = 2.109, 95%CI = 1.352–3.287, P=0.003). Similarly, the G allele (CG/GG) of hOGG1 C326G locus conferred increased susceptibility to CRC (adjusted OR = 2.654, 95%CI = 1.915–3.685, P<0.001). In addition, the T allele carriers (GT/TT) of the XRCC4 G1394T locus have an increased risk of developing CRC (adjusted OR = 4.512, 95%CI = 2.785–7.402, P<0.001). The risk of CRC was significantly increased in individuals with both the XPD locus A allele and the hOGG1 locus G allele (adjusted OR = 1.543, 95%CI = 1.302–2.542, P=0.002). Furthermore, individuals with both the hOGG1 locus G allele and the XRCC4 locus T allele were predisposed to CRC development (adjusted OR = 3.854, 95%CI = 1.924–7.123, P<0.001). The risks of CRC in XPD gene A allele carriers (GA/AA) (adjusted OR = 1.570, 95%CI = 1.201–1.976, P=0.001), hOGG1 gene G allele carriers (CG/GG) (adjusted OR = 3.031, 95%CI = 2.184–4.225, P<0.001) and XRCC4 gene T allele carriers (GT/TT) (adjusted OR = 2.793, 95%CI = 2.235–3.222, P<0.001) were significantly higher in patients who smoked ≥16 packs/year. Conclusion: Our results suggest that XPD G751A, hOGG1 C326G and XRCC4 G1394T gene polymorphisms might play an important role in colorectal carcinogenesis and increase the risk of developing CRC in the Chinese Han population. The interaction between smoking and these gene polymorphisms would increase the risk of CRC.

scholarly journals Correlation between miRNA target site polymorphisms in the 3′ UTR of AVPR1A and the risk of hypertension in the Chinese Han population

2019 ◽  
Vol 39 (5) ◽  
Author(s):  
Liuping Zhang ◽  
Jinwei Liu ◽  
Peng Cheng ◽  
Fangchao Lv
Keyword(s):  
Single Nucleotide Polymorphisms ◽  
Mirna Target ◽  
Direct Sequencing ◽  
Chinese Han Population ◽  
Control Group ◽  
Nucleotide Polymorphisms ◽  
Chinese Han ◽  
Single Nucleotide ◽  
Han Population ◽  
Increased Risk

Abstract We aimed to study the relationship between rs11174811 and rs3803107 single nucleotide polymorphisms (SNPs) in miRNA target sites of the 3′ UTR in the arginine vasopressin receptor 1a gene (AVPR1A) and the risk of hypertension in the Chinese Han population. The genotypes at rs11174811 and rs3803107 were analyzed by direct sequencing in 425 Chinese Han patients with hypertension and 425 healthy subjects. AVPR1A expression was investigated by transfecting miR-526b, miR-375, and miR-186 mimics into human umbilical vein endothelial cells (HUVECs) containing AVPR1A rs11174811 CC, CA/AA and AVPR1A rs3803107 GG, GA/AA genotypes. The A alleles of rs11174811 (adjusted OR = 1.424, 95% CI: 1.231–1.599, P<0.001) and rs3803107 (adjusted OR = 1.222, 95% CI: 1.092–1.355; P=0.001) were high risk factors for hypertension. Plasma levels of miR-526b, miR-375, and miR-186 were higher in the study group than in the control group (P<0.001). The expression levels of AVPR1A mRNA in AVPR1A rs11174811 and rs3803107 mutant HUVECs were higher than those in wild-type cells (t = 8.811, 4.068 and P=0.001, 0.015, respectively). The single nucleotide polymorphisms rs11174811 and rs3803107 in the AVPR1A gene are associated with an increased risk of hypertension in the Chinese Han population. This may be related to the effect of these variants on the regulation of AVPR1A expression by miRNAs.

scholarly journals Relationship between CYP2E1 Gene Polymorphism and Anti-tuberculosis Drug-induced Liver Injury

2018 ◽  
Vol 1 (4) ◽  
pp. 105
Author(s):  
Donglin Zhu ◽  
Yun Xi ◽  
Jieming Dong ◽  
Fanhua Huang ◽  
Changzhi Xu ◽  
...  
Keyword(s):  
Liver Injury ◽  
Gene Polymorphism ◽  
Liver Damage ◽  
Gene Polymorphisms ◽  
Control Group ◽  
Case Group ◽  
Chinese Han ◽  
Drug Induced ◽  
Drug Induced Liver Injury ◽  
Cyp2e1 Gene

 Objective: To investigate the relationship between cytochrome P450 E1 (CYP2E1) gene polymorphisms and susceptibility to anti-tuberculosis drug-induced liver damage (ATDLI) in tuberculosis patients in the Chinese Han nationality. Methods: A retrospective analysis was performed on 360 patients with tuberculosis who had liver damage after tuberculosis treatment (case group) and 360 patients with tuberculosis who did not develop liver injury after treatment (control group). MassARRAY were used to detect CYP2E1 gene polymorphisms. Results: In a total of 8 tagged SNP loci selected, the rs8192773 locus failed to pass the test, and therefore, it is not included in subsequent analysis. At the remaining seven SNP sites, the difference in alleles was not statistically significant between the case group and the control group, suggesting that these sites may not be related to liver damage caused by anti-tuberculosis drugs. Three monomer domains were found in the seven tags SNP loci mentioned above. However, it was found that these haplotypes are not closely related to anti-tuberculosis drug-induced liver damage. Conclusion: The CYP2E1 gene polymorphism in the Chinese Han nationality is not related to the occurrence of anti-tuberculosis drug-induced liver injury.

scholarly journals Circulating adiponectin mediates the association between omentin gene polymorphism and cardiometabolic health in Asian Indians

PLoS ONE ◽  
2021 ◽  
Vol 16 (5) ◽  
pp. e0238555
Author(s):  
Karani Santhanakrishnan Vimaleswaran ◽  
Dhanasekaran Bodhini ◽  
Juanjie Jiang ◽  
Kandaswamy Ramya ◽  
Deepa Mohan ◽  
...  
Keyword(s):  
Health Status ◽  
Gene Polymorphism ◽  
Asian Indians ◽  
Molecular Mechanisms ◽  
Direct Sequencing ◽  
Dietary Factors ◽  
Serum Adiponectin ◽  
Cardiometabolic Health ◽  
Cardiometabolic Diseases ◽  
Increased Risk

Background Plasma omentin levels have been shown to be associated with circulating adiponectin concentrations and cardiometabolic disease-related outcomes. In this study, we aim to examine the association of omentin gene polymorphism with serum adiponectin levels and cardiometabolic health status using a genetic approach, and investigate whether these associations are modified by lifestyle factors. Methods The study included 945 normal glucose tolerant and 941 unrelated individuals with type 2 diabetes randomly selected from the Chennai Urban Rural Epidemiology Study (CURES), in southern India. Study participants were classified into cardiometabolically healthy and unhealthy, where cardiometabolically healthy were those without hypertension, diabetes, and dyslipidemia. Fasting serum adiponectin levels were measured by radioimmunoassay. The omentin A326T (rs2274907) single nucleotide polymorphism (SNP) was screened by polymerase chain reaction-restriction fragment length polymorphism and direct sequencing. Results The ‘A’ allele of the omentin SNP was significantly associated with lower adiponectin concentrations after adjusting for age, sex, body mass index (BMI), waist circumference (WC) and cardiometabolic health status (p = 1.90 x 10−47). There was also a significant association between circulating adiponectin concentrations and cardiometabolic health status after adjusting for age, sex, BMI, WC and Omentin SNP (p = 7.47x10-10). However, after adjusting for age, sex, BMI, WC and adiponectin levels, the association of ‘A’ allele with cardiometabolic health status disappeared (p = 0.79) suggesting that adiponectin serves as a mediator of the association between omentin SNP and cardiometabolic health status. There were no significant interactions between the SNP and dietary factors on adiponectin levels and cardiometabolic health status (p>0.25, for all comparisons). Conclusions Our findings show that adiponectin might function as a mechanistic link between omentin SNP and increased risk of cardiometabolic diseases independent of common and central obesity in Asian Indians. Before strategies to promote adiponectin modulation could be implemented, further studies are required to confirm the molecular mechanisms involved in this triangular relationship between omentin gene, adiponectin and cardiometabolic diseases.

scholarly journals Surfactant Protein D Gene Polymorphism was Associated with the Susceptibility of Gestational Diabetes Mellitus: A Case Control Study

2021 ◽  
Author(s):  
Jingwei Xu ◽  
Yi Chen ◽  
Liangfang Tang ◽  
Xinyuan Teng ◽  
Lin Feng ◽  
...  
Keyword(s):  
Diabetes Mellitus ◽  
Gestational Diabetes ◽  
Gene Polymorphism ◽  
Gestational Diabetes Mellitus ◽  
Gene Polymorphisms ◽  
Surfactant Protein ◽  
Surfactant Protein D ◽  
Coding Region ◽  
Increased Risk ◽  
Relationship Of

Abstract BackgroundSurfactant protein D (SP-D) is a critical component of the innate immune system intrinsically linked to energetic metabolism. However, the relationship of SP-D gene polymorphisms and gestational diabetes mellitus (GDM) remains unclear yet. In this study, we analyzed SP-D gene polymorphisms in GDM patients and non-diabatic controls, and then determined the association of SP-D gene polymorphisms with GDM.MethodsWe examined a common genetic polymorphism located in the SP-D coding region (rs721917, Met31Thr) with GDM patients (n = 147) and healthy pregnant controls (n = 97) by using a PCR-RFLP technique. The level of SP-D protein in serum of GDM patients and non-diabetic controls was determined by ELISA method. The gene and allele frequencies od SP-D and their association with GDM as well as SP-D protein level were analyzed using SPSS software.ResultsWe found that there exists a significant association of the SP-D polymorphism (rs721917) with GDM. SP-D (T/T) genotype had 11.6% and 21.6% in GDM and matched healthy controls, respectively (P<0.05); indicating women with (T/T) genotype have lower prevalence of GDM (OR = 0.473). Women with T/C genotypes showed an increased risk of GDM (OR = 2.440). We did not observe corrections between glucose homeostasis markers and SP-D genotypes in the women patients with GDM. Furthermore, serum SP-D level was higher in the GDM compared to matched healthy controls.ConclusionsThis study has found the first evidence that SP-D gene polymorphism (rs721917) was associated with GDM, which may provide the basis for further study how SP-D plays a regulatory role in GDM.

scholarly journals IL-6 gene rs12700386 Polymorphism is Associated with Increased Risk of Knee Osteoarthritis Development in Chinese Han Population: A Case-Control Study

2020 ◽  
Author(s):  
Hui Yang ◽  
Xindie Zhou ◽  
Dongmei Xu ◽  
Gang Chen
Keyword(s):  
Knee Osteoarthritis ◽  
Case Control Study ◽  
Case Control ◽  
Chinese Han ◽  
Knee Oa ◽  
Reverse Transcription Pcr ◽  
Increased Risk ◽  
Pcr Rflp ◽  
Polymerase Chain ◽  
Control Study

Abstract Background: There is an association between Interleukin-6 (IL-6) polymorphism and knee osteoarthritis (OA) risk. The case-control study aims at exploring how IL-6 rs12700386 polymorphism affects the knee OA risk in Chinese Han individuals.Methods: We extracted the DNA from 763 participants, thereinto, 352 were OA patients and 411 were healthy controls. The polymerase chain reaction restriction fragment length polymorphism (PCR-RFLP) assisted in genotyping the IL-6 gene polymorphism. The relative expression exhibited by IL-6 in blood samples of knee OA patients was determined via a quantitative reverse transcription PCR (qRT-PCR). Results: We found that IL-6 rs12700386 enhanced the knee OA susceptibility. Based on a subgroup analysis, the loci magnified the knee OA risk in smokers, drinkers, and subjects ≥ 55 years old or with BMI ≥ 25 kg/m2. The combination of smoking and drinking and rs12700386 genotype led to an increase in the knee OA risk, indicating an underlying interaction between gene and environment. Additionally, the rs12700386 was found to be related to increased IL-6 gene levels. Conclusion: These data indicate that rs12700386 polymorphism of IL-6 gene led to an increase in the knee OA risk specific to Chinese Han individuals.

scholarly journals Associations between Interleukin-32 Gene Polymorphisms rs12934561 and rs28372698 and Susceptibilities to Bladder Cancer and the Prognosis in Chinese Han Population

2020 ◽  
Vol 2020 ◽  
pp. 1-8
Author(s):  
Jie Yang ◽  
Zhongyu Jian ◽  
Pengfei Shen ◽  
Yunjin Bai ◽  
Yin Tang ◽  
...  
Keyword(s):  
Bladder Cancer ◽  
Gene Polymorphisms ◽  
Invasive Bladder Cancer ◽  
Chinese Han ◽  
Muscle Invasive Bladder Cancer ◽  
Single Nucleotide ◽  
Homozygous Genotype ◽  
Pcr Rflp ◽  
Spss Software ◽  
Muscle Invasive

The proinflammatory chemokine interleukin-32 is related to various diseases, including cancer. However, it has never been associated with bladder cancer (BC). To detect whether there is a relationship between the IL-32 gene polymorphisms (rs12934561 C/T and rs28372698 T/A) and BC, the study enrolled 170 non-muscle-invasive bladder cancer (NMIBC) patients, 151 muscle-invasive bladder cancer (MIBC) patients, and 437 healthy controls. The polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method was used for the IL-32 single-nucleotide polymorphism (SNP) genotyping. Statistical analysis was performed using SNPstats online analysis software and SPSS software. Our data revealed that the CC homozygous genotype of rs12934561 in BC patients was significantly higher than that in controls ( P = 0.03 , OR = 1.47 , 95 % CI = 1.04 ‐ 2.08 ), and the percentage of TC genotype carriers was relatively less than that of controls ( P = 0.001 , OR = 0.61 , 95 % CI = 0.45 ‐ 0.82 ). Furthermore, the TT homozygous genotype of rs28372698 was associated with a significantly lower overall survival rate in MIBC patients ( P = 0.028 , OR = 2.77 , 95 % CI = 1.11 ‐ 6.90 ). The IL-32 gene polymorphism rs12934561 might be associated with increased BC risk, and the rs28372698 might participate in the prognosis of BC patients. Therefore, they could be potential forecasting factors for the prognosis of MIBC patients.

Impact of APEX Ile64val Gene Polymorphisms of DNA Repair Ber System on Modulation of the Risk of Colorectal Cancer in the Polish Population

2015 ◽  
Vol 87 (3) ◽  
Author(s):  
Jacek Kabziński ◽  
Ireneusz Majsterek ◽  
Michał Mik ◽  
Adam Dziki ◽  
Łukasz Dziki ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Dna Repair ◽  
Gene Polymorphism ◽  
Gene Polymorphisms ◽  
Healthy Subjects ◽  
Genetic Basis ◽  
Direct Relationship ◽  
Control Group ◽  
Polish Population ◽  
Increased Risk

AbstractColorectal cancer (CRC) is one of the deadliest cancers which lie in the incidence of morbidity in second place. Intensive research is to determine and confirm the genetic basis of this disease, which is believed may have a direct relationship with the reduced efficiency of DNA repair systems.The aim of this study was to determine the effect of APEX gene polymorphism Ile64Val on increasing the risk of colorectal cancer in the Polish population.Material and methods. The blood samples collected from 150 patients diagnosed with colon cancer was used. The control group consisted of 150 healthy subjects. Genotyping was performed by TaqMan method.Results. The results indicate that genotype Ile Val is associated with an increased risk of colorectal cancer (OR 2.069; 95% CI 1,205-3,552; p = 0.008).Conclusions. Based on these results, we conclude that the APEX gene polymorphism Ile64Val may be associated with an increased risk of colorectal cancer.

scholarly journals SAMHD1Gene Mutations Are Associated with Cerebral Large-Artery Atherosclerosis

2015 ◽  
Vol 2015 ◽  
pp. 1-8
Author(s):  
Wei Li ◽  
Baozhong Xin ◽  
Junpeng Yan ◽  
Ying Wu ◽  
Bo Hu ◽  
...  
Keyword(s):  
Small Vessel Disease ◽  
Direct Sequencing ◽  
Gene Mutations ◽  
Splice Site Mutation ◽  
Large Artery ◽  
Missense Mutations ◽  
Site Mutation ◽  
Chinese Han ◽  
Functionally Impaired

Background. To investigate whether one or moreSAMHD1gene mutations are associated with cerebrovascular disease in the general population using a Chinese stroke cohort.Methods. Patients with a Chinese Han background (N=300) diagnosed with either cerebral large-artery atherosclerosis (LAA,n=100), cerebral small vessel disease (SVD,n=100), or other stroke-free neurological disorders (control,n=100) were recruited. Genomic DNA from the whole blood of each patient was isolated, and direct sequencing of theSAMHD1gene was performed. Both wild type and mutant SAMHD1 proteins identified from the patients were expressed inE. coliand purified; then their dNTPase activities and ability to form stable tetramers were analysedin vitro.Results. Three heterozygous mutations, including two missense mutations c.64C>T (P22S) and c.841G>A (p.E281K) and one splice site mutation c.696+2T>A, were identified in the LAA group with a prevalence of 3%. No mutations were found in the patients with SVD or the controls (p=0.05). The mutant SAMHD1 proteins were functionally impaired in terms of their catalytic activity as a dNTPase and ability to assemble stable tetramers.Conclusions. HeterozygousSAMHD1gene mutations might cause genetic predispositions that interact with other risk factors, resulting in increased vulnerability to stroke.

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