scholarly journals Association of Toll-Like Receptor 4 Gene Polymorphisms with Acute Aortic Dissection in a Chinese Han Population

2020 ◽  
Vol 2020 ◽  
pp. 1-11
Author(s):  
Tan Li ◽  
Xiaozheng Liu ◽  
Hongxia Ning ◽  
Xintong Li ◽  
Jun Yang ◽  
...  
Keyword(s):  
Aortic Dissection ◽  
Acute Aortic Dissection ◽  
Recessive Model ◽  
Chinese Han Population ◽  
Dominant Model ◽  
Toll Like Receptor ◽  
Chinese Han ◽  
Toll Like Receptor 4 ◽  
Han Population ◽  
Increased Risk

Background. Inflammation may be involved in the pathogenesis of acute aortic dissection (AAD). Toll-like receptor 4 (TLR4) is known to play a critical role in regulating the immune and inflammatory processes. To date, the relationship between genetic variation of TLR4 and AAD is far from clear. The purpose of our study was to illustrate the relevance of TLR4 polymorphisms with the susceptibility to AAD. Methods. A total of 222 AAD patients and 222 controls were enrolled in this study. Frequency distributions of TLR4 polymorphisms (rs10759932 in the promoter and rs11536889 in the 3 ′ -untranslated region) were determined by the KASP method. Clinical parameters were acquired from subjects’ medical records, and serum TLR4 levels were collected from our previously published data. Results. We found that rs10759932 polymorphism was associated with a reduced risk of AAD in the overall population (CC vs. TT: OR = 0.393 , 95 % CI = 0.164 ‐ 0.939 , P = 0.036 ; recessive model: OR = 0.439 , 95 % CI = 0.196 ‐ 0.984 , P = 0.045 ) and subgroup analyses stratified by sex. The GC genotype and dominant model of rs11536889 conferred a significantly higher risk of AAD compared with GG genotype in female subjects (GC vs. GG: OR = 3.382 , 95 % CI = 1.051 ‐ 10.885 , P = 0.041 ; dominant model: OR = 3.043 , 95 % CI = 1.041 ‐ 8.900 , P = 0.042 ). In addition, a significant interaction between the rs11536889 recessive model and dyslipidemia was observed for an increased risk of AAD ( P interaction = 0.038 , OR = 15.229 ) after the adjustment for potential clinical covariates. We also used the false-positive report probability (FPRP) analysis to validate the significant results. Furthermore, rs11536889 polymorphism could affect the maximal aortic diameters of AAD ( P = 0.037 ), while AAD patients carrying CC genotype of rs10759932 showed lower serum TLR4 levels than TT genotype carriers ( P = 0.043 ). Conclusions. Our findings provide evidence for the association between TLR4 polymorphisms and AAD susceptibility in a Chinese Han population, which may have some implications for understanding the role of TLR4 in the pathophysiology of AAD.

scholarly journals Association between the ACYP2 Polymorphisms and IgAN Risk in the Chinese Han Population

2019 ◽  
Vol 44 (4) ◽  
pp. 810-822
Author(s):  
Gang Jin ◽  
Yan Liang ◽  
Xiaohui Yan ◽  
Linping Zhang ◽  
Zhenjiang Li ◽  
...  
Keyword(s):  
Association Studies ◽  
Immunoglobulin A ◽  
Additive Model ◽  
Recessive Model ◽  
Chinese Han Population ◽  
Nucleotide Polymorphisms ◽  
Bonferroni Correction ◽  
Chinese Han ◽  
Han Population ◽  
Increased Risk

Background/Aims: The association between ACYP2(Acylphosphatase 2) polymorphisms and immunoglobulin A nephropathy (IgAN) risk in the Chinese Han population remains unclear. We aimed to evaluate the association between ACYP2 polymorphisms and IgAN risk by performing a case-control study. Methods: Eleven ACYP2 single nucleotide polymorphisms (SNPs) from 416 IgAN patients and 495 healthy controls were genotyped using the Sequenom MassARRAY platform. Odds ratio (OR) and 95% confidence interval (CI) were calculated to evaluate the association of ACYP2 polymorphisms with IgAN risk. Results: We observed that rs843720 was significantly associated with an increased risk of IgAN (allele G: OR = 1.23, 95% CI: 1.01–1.49, p = 0.036; dominant model: OR = 1.55, 95% CI: 1.01–2.37, p =0.044; log-additive model: OR = 1.43, 95% CI: 1.04–1.95, p = 0.026) before Bonferroni correction. The SNP rs12615793 was also significantly associated with an increased IgAN risk in the recessive model (OR = 3.33, 95% CI: 1.05–10.51, p = 0.042) before Bonferroni correction. Conclusion: These findings suggested that polymorphisms (rs843720 and rs12615793) of ACYP2 may be pivotal in the development of IgAN. However, more functional and association studies with larger sample sizes should be performed to further validate our results in the future.

scholarly journals Analysis of Single Nucleotide Polymorphisms within ADAM12 and Risk of Knee Osteoarthritis in a Chinese Han Population

2015 ◽  
Vol 2015 ◽  
pp. 1-5 ◽  
Author(s):  
Lin Wang ◽  
Lin Guo ◽  
Fengde Tian ◽  
Ruihu Hao ◽  
Tiejun Yang
Keyword(s):  
Single Nucleotide Polymorphisms ◽  
Population Based ◽  
Recessive Model ◽  
Chinese Han Population ◽  
Nucleotide Polymorphisms ◽  
Chinese Han ◽  
Single Nucleotide ◽  
Han Population ◽  
Genotype Frequencies ◽  
Increased Risk

Objective. Osteoarthritis (OA) is a complex arthritic condition in which the genetic factor plays a major role. One of the candidate genes of is the ADAM12 gene, but no consistency has been reached till now. This study aims to investigate the potential role of four single nucleotide polymorphisms (SNPs) of the ADAM12 gene in susceptibility to knee OA and its progression in Chinese Han population.Methods. The rs1278279, rs3740199, rs1044122, and rs1871054 polymorphisms were genotyped and compared in a population based cohort consisting of 164 OA subjects and 200 age- and gender-matched controls.Results. The SNP rs1871054 was found with increased risk of OA susceptibility in comparing the genotype frequencies between the case and control groups no matter for which model of comparison (allele level, dominant model, recessive model, and extreme genotype model). Additionally, the SNP rs1871054 was found associated with increased OA severity according to the K/L grade.Conclusion. In summary, we have identified that the rs1871054 variant within the ADAM12 gene is a risk factor for increased osteoarthritis susceptibility and severity.

scholarly journals Genetic Variant ofKalirinGene Is Associated with Ischemic Stroke in a Chinese Han Population

2017 ◽  
Vol 2017 ◽  
pp. 1-10
Author(s):  
Hong Li ◽  
Shasha Yu ◽  
Rui Wang ◽  
Zhaoqing Sun ◽  
Xinghu Zhou ◽  
...  
Keyword(s):  
Ischemic Stroke ◽  
Additive Model ◽  
Recessive Model ◽  
Chinese Han Population ◽  
Dominant Model ◽  
Chinese Han ◽  
Han Population ◽  
Gene Variation ◽  
Pcr Method ◽  
Genetic And Environmental Factors

Introduction.Ischemic stroke is a complex disorder resulting from the interplay of genetic and environmental factors. Previous studies showed that kalirin gene variations were associated with cardiovascular disease. However, the association between this gene and ischemic stroke was unknown. We performed this study to confirm if kalirin gene variation was associated with ischemic stroke.Methods.We enrolled 385 ischemic stroke patients and 362 controls from China. Three SNPs of kalirin gene were genotyped by means of ligase detection reaction-PCR method. Data was processed with SPSS and SHEsis platform.Results.SNP rs7620580 (dominant model: OR = 1.590,p= 0.002 and adjusted OR = 1.662,p= 0.014; additive model: OR = 1.490,p= 0.002 and adjusted OR = 1.636,p= 0.005; recessive model: OR = 2.686,p= 0.039) and SNP rs1708303 (dominant model: OR = 1.523,p= 0.007 and adjusted OR = 1.604,p= 0.028; additive model: OR = 1.438,p= 0.01 and adjusted OR = 1.476,p= 0.039) were associated with ischemic stroke. The GG genotype and G allele of SNP rs7620580 were associated with a risk for ischemic stroke with an adjusted OR of 3.195 and an OR of 1.446, respectively. Haplotype analysis revealed that A–T–G,G-T-A, and A-T-A haplotypes were associated with ischemic stroke.Conclusions.Our results provide evidence that kalirin gene variations were associated with ischemic stroke in the Chinese Han population.

scholarly journals CCR5 Promoter Polymorphisms Associated With Pulmonary Tuberculosis in a Chinese Han Population

2021 ◽  
Vol 11 ◽  
Author(s):  
Shuyuan Liu ◽  
Nannan Liu ◽  
Hui Wang ◽  
Xinwen Zhang ◽  
Yufeng Yao ◽  
...  
Keyword(s):  
Recessive Model ◽  
Chinese Han Population ◽  
Health Concern ◽  
Genotypic Frequency ◽  
Promoter Polymorphisms ◽  
Chinese Han ◽  
Pulmonary Tb ◽  
Han Population ◽  
Increased Risk ◽  
Increased Susceptibility

BackgroundTuberculosis (TB), an infectious disease caused by Mycobacterium tuberculosis, is a major public health concern. Chemokines and their receptors, such as RANTES, CXCR3, and CCR5, have been reported to play important roles in cell activation and migration in immune responses against TB infection.MethodsTo understand the correlations involving CCR5 gene variations, M. tuberculosis infection, and TB disease progression, a case-control study comprising 450 patients with TB and 306 healthy controls from a Chinese Han population was conducted, along with the detection of polymorphisms in the CCR5 promoter using a sequencing method.ResultsAfter adjustment for age and gender, the results of logistic analysis indicated that the frequency of rs2734648-G was significantly higher in the TB patient group (P = 0.002, OR = 1.38, 95% CI: 1.123–1.696); meanwhile, rs2734648-GG showed notable susceptibility to TB (P = 6.32E-06, OR = 2.173, 95% CI: 1.546–3.056 in a recessive model). The genotypic frequency of rs1799987 also varied between the TB and control groups (P = 0.008). In stratified analysis, rs2734648-GG significantly increased susceptibility to pulmonary TB in a recessive model (P < 0.0001, OR = 2.382, 95% CI: 1.663–3.413), and the rs2734648-G allele significantly increased susceptibility to TB recurrence in a dominant model (P = 0.0032, OR = 1.936, 95% CI: 1.221–3.068), whereas rs1799987-AA was associated with susceptibility to pulmonary TB (P = 0.0078, OR = 1.678, 95% CI: 1.141–2.495 in a recessive model) but not with extra-pulmonary TB and TB recurrence. A haplotype constructed with the major alleles of the eight SNPs in the CCR5 promoter (rs2227010-rs2856758-rs2734648-rs1799987-rs1799988-rs41469351-rs1800023-rs1800024: A-A-G-G-T-C-G-C) exhibited extraordinarily increased risk of susceptibility to TB and pulmonary TB (P = 6.33E-11, OR = 24.887, 95% CI: 6.081–101.841).ConclusionIn conclusion, CCR5 promoter polymorphisms were found to be associated with pulmonary TB and TB progression in Chinese Han people.

scholarly journals Association of GTF2I, NFKB1, and TYK2 Regional Polymorphisms With Systemic Sclerosis in a Chinese Han Population

2021 ◽  
Vol 12 ◽  
Author(s):  
Chenxi Liu ◽  
Songxin Yan ◽  
Haizhen Chen ◽  
Ziyan Wu ◽  
Liubing Li ◽  
...  
Keyword(s):  
Systemic Sclerosis ◽  
Genetic Model ◽  
Additive Model ◽  
Recessive Model ◽  
Chinese Han Population ◽  
Nucleotide Polymorphisms ◽  
Chinese Han ◽  
Association Analyses ◽  
Han Population ◽  
Increased Risk

ObjectivesSystemic sclerosis (SSc) is an uncommon autoimmune disease that varies with ethnicity. Single nucleotide polymorphisms (SNPs) in the GTFSI, NFKB1, and TYK2 genes have been reported to be associated with SSc in other populations and in individuals with various autoimmune diseases. This study aimed to investigate the association between these SNPs and susceptibility to SSc in a Chinese Han population.MethodA case-control study was performed in 343 patients with SSc and 694 ethnically matched healthy controls. SNPs in GTF2I, NFKB1, and TYK2 were genotyped using a Sequenom MassArray iPLEX system. Association analyses were performed using PLINK v1.90 software.ResultOur study demonstrated that the GTF2I rs117026326 T allele and the GTF2I rs73366469 C allele were strongly associated with patients with SSc (P = 6.97E-10 and P = 1.33E-08, respectively). Patients carrying the GTF2I rs117026326 TT genotype and the GTF2I rs73366469 CC genotype had a strongly increased risk of SSc (P = 6.25E-09 and P = 1.67E-08, respectively), and those carrying the NFKB1 rs1599961 AA genotype had a suggestively significantly increased risk of SSc (P = 0.014). Moreover, rs117026326 and rs73366469 were associated with SSc in different genetic models (additive model, dominant model, and recessive model) (P < 0.05) whereas rs1599961 was associated with SSc in the dominant genetic model but not in the addictive and recessive models (P = 0.0026). TYK2 rs2304256 was not significantly associated with SSc in this study.ConclusionGTF2I rs117026326 and rs73366469 SNPs were strongly associated with SSc in this Chinese Han population. NFKB1 rs1599961 showed a suggestive association with SSc, and no significant association was found between TYK2 rs2304256 and SSc in this Chinese Han population.

scholarly journals Association of the gene polymorphisms of BMPR2, ACVRL1, SMAD9 and their interactions with the risk of essential hypertension in the Chinese Han population

2019 ◽  
Vol 39 (1) ◽  
Author(s):  
Yunpeng Chen ◽  
Chenxi Ye ◽  
Jingwen Chen ◽  
Dongming Lin ◽  
Hao Wang ◽  
...  
Keyword(s):  
Essential Hypertension ◽  
Polymerase Chain Reaction Amplification ◽  
White Blood Cells ◽  
Recessive Model ◽  
Chinese Han Population ◽  
Dominant Model ◽  
Nucleotide Polymorphisms ◽  
Chinese Han ◽  
Han Population ◽  
Protein Receptor

Abstract Objective: Genetic factors are involved in the occurrence, development, and progression of essential hypertension (EH). To study the association between single nucleotide polymorphisms (SNPs) of the rs6435156 and rs1048829 loci of the bone morphogenetic protein receptor type 2 (BMPR2) gene, the rs121909287 and rs121909284 loci of the activin receptor-like kinase 1 (ACVRL1) gene, and the rs397514716 and rs121918359 loci of the mothers against decapentaplegic homolog 9 (SMAD9) gene with the risk of EH in the Chinese Han population. Materials and methods: A total of 460 EH patients and 460 healthy controls were recruited for the study. Genomic DNA of white blood cells was extracted, and the genotypes were analyzed by Sanger sequencing after polymerase chain reaction amplification. Multi-factor dimensionality reduction (MDR) was used to analyze the effect of gene–environment interactions on EH risk. Results: The risk of EH increased in the BMPR2 gene rs6435156 locus dominant model (adjusted odds ratio [OR] = 1.572, 95% confidence interval [CI]: 1.385–1.765, P<0.001) and recessive model (adjusted OR = 1.926, 95% CI: 1.693–2.067, P<0.001). The risk of EH increased in the rs1048829 recessive model (adjusted OR = 1.444, 95% CI: 1.142–1.696, P=0.003). The risk of EH increased in the recessive model of the ACVRL1 gene rs121909287 locus (adjusted OR = 1.403, 95% CI: 1.101–1.660, P=0.008). The risk of EH increased in the SMAD9 gene rs397514716 locus dominant model (adjusted OR = 1.370, 95% CI: 1.183–1.559, P<0.001) and recessive model (adjusted OR = 1.803, 95% CI: 1.470–1.983, P<0.001). The CG haplotype of the rs6435156 and rs1048829 loci of the BMPR2 gene, the CC haplotype of the ACVRL1 gene rs121909287 and rs121909284 loci, and the CC haplotype of the rs397514716 and rs121918359 loci of the SMAD9 gene were factors that protect against EH, whereas the TT haplotype of the rs6435156 and rs1048829 loci in the BMPR2 gene was a risk factor for EH. MDR analysis showed that the BMPR2 gene rs6435156 locus TT genotype carriers, the SMAD9 gene rs397514716 locus TT genotype carriers, and alcohol drinkers had the highest EH risk (OR = 4.523, 95% CI: 2.235–6.871, P<0.001). Conclusion: The SNPs of the rs6435156 and rs1048829 locus in the BMPR2 gene, the rs121909287 loci in the ACVRL1 gene, and the rs397514716 locus in the SMAD9 gene were associated with a risk of EH in Han Chinese.

scholarly journals EDNRA Gene rs1878406 Polymorphism is Associated With Susceptibility to Large Artery Atherosclerotic Stroke

2022 ◽  
Vol 12 ◽  
Author(s):  
Wan Wei ◽  
Xianjun Xuan ◽  
Jiahui Zhu ◽  
Tianwen Chen ◽  
Yudan Fang ◽  
...  
Keyword(s):  
Stroke Risk ◽  
Interactive Effect ◽  
Recessive Model ◽  
Chinese Han Population ◽  
Large Artery ◽  
Regression Analyses ◽  
Multivariate Logistic Regression ◽  
Chinese Han ◽  
Han Population ◽  
Increased Risk

Objective: We performed this study to investigate whether the EDNRA gene rs1878406 C &gt; T polymorphism is associated with risk of large artery atherosclerosis (LAA) stroke in the Chinese Han population.Methods: Genotyping of rs1878406 was performed in 1,112 LAA stroke patients and 1,192 healthy controls. Multivariate logistic regression analyses were applied to assess the effect of the rs1878406 C &gt; T polymorphism on susceptibility to LAA stroke.Results: A significant increase of LAA stroke risk was found in the recessive model (TT vs. CC/TC, OR = 1.74, 95% CI = 1.23–2.48, p = 0.002) and co-dominant model (TC vs. CC, OR = 1.06, 95% CI = 0.89–1.27, TT vs. CC, OR = 1.79, 95% CI = 1.25–2.55, p = 0.006). However, the interaction between age and genotypes of rs1878406 was not statistically significant, and no significant interactive effect was observed between the rs1878406 C &gt; T polymorphism and sex (p &gt; 0.05).Conclusion: The rs1878406 C &gt; T polymorphism is associated with increased risk of LAA stroke in the Chinese Han population.

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