Association between the PDE4D gene and ischaemic stroke in the Chinese Han population

2009 ◽  
Vol 117 (7) ◽  
pp. 265-272 ◽  
Author(s):  
Yun Sun ◽  
Yanyan Huang ◽  
Xu Chen ◽  
Yun Liu ◽  
Xiaozhe Lu ◽  
...  
Keyword(s):  
Ischaemic Stroke ◽  
Eastern China ◽  
Chinese Han Population ◽  
Chinese Han ◽  
Unrelated Control ◽  
Han Population ◽  
Increased Risk ◽  
Significant Difference ◽  
Stroke Group

Recent findings suggests that PDE4D (gene encoding phosphodiesterase 4D) is a stroke-related gene in the Icelandic population, but it is still very controversial as to whether it is a susceptible gene for stroke in other populations. In the present study, we attempted to explore the role of the gene in the pathogenesis of stroke in the Chinese Han population of eastern China. A total of 649 ischaemic stroke patients and 761 unrelated control individuals with no history of stroke or transient ischaemic attack were examined in a case-control study. Four SNPs (single nucleotide polymorphisms) rs152312 (C/T), SNP56 (A/T), SNP83 (C/T) and SNP87 (C/T) with a minor allele frequency over 5% were genotyped and the corresponding haplotypes were constructed. In an analysis of the combined cardiogenic and carotid stroke group, both the allele (P=0.0060) and genotype (P=0.0160) frequencies between cases and controls at SNP83 showed significant differences. However, no difference in haplotype frequencies was observed between cases and controls at rs152312 and SNP56. In the analysis of the small-artery-occlusive stroke group, no difference in allele or genotype frequencies was observed at any marker between cases and controls; the global haplotype frequency in rs152312 and SNP56 had a significant difference between cases and controls (P=0.0162); the frequency of haplotype C-A was higher in cases than in controls (P=0.0122). In conclusion, our present findings show that polymorphisms in the PDE4D gene are associated with an increased risk of ischaemic stroke in the Chinese Han population. The present study adds further support to the role of PDE4D in stroke.

scholarly journals Genetic susceptibility of five tagSNPs in the endothelin-1 (EDN1) gene to coronary artery disease in a Chinese Han population

2018 ◽  
Vol 38 (5) ◽  
Author(s):  
Li-li Liang ◽  
Lin Chen ◽  
Meng-yuan Zhou ◽  
Meng-yun Cai ◽  
Jie Cheng ◽  
...  
Keyword(s):  
Coronary Artery Disease ◽  
Coronary Artery ◽  
Chinese Han Population ◽  
Chinese Han ◽  
Han Population ◽  
Endothelin 1 ◽  
Increased Risk ◽  
Artery Disease ◽  
Cad Risk

Endothelin-1 (ET-1) plays important roles in endothelial dysfunction, vascular physiology, inflammation, and atherosclerosis. Nonetheless, the role of ET-1 (EDN1) gene variants on coronary artery disease (CAD) risk remains poorly understood. The aim of the present study was to evaluate the role of EDN1 gene polymorphisms on individual susceptibility to CAD. We genotyped five tagSNPs (single-nucleotide polymorphisms) (rs6458155, rs4145451, rs9369217, rs3087459, and rs2070699) within EDN1 gene in 525 CAD patients and 675 control subjects. In a multivariate logistic regression analysis, we detected an association of rs6458155 in EDN1 gene with the CAD risk; compared with the TT homozygotes, the CT heterozygotes (odds ratio (OR) = 1.53, 95% confidence interval (CI) = 1.02–2.29, P=0.040) and the CC homozygotes (OR = 1.55, 95% CI = 1.01–2.36, P=0.043) were statistically significantly associated with the increased risk for CAD. A similar trend of the association was found in dominant model (OR = 1.53, 95% CI = 1.05–2.25, P=0.029). Consistently, the haplotype rs6458155C-rs4145451C containing rs6458155 C allele exhibited the increased CAD risk (OR = 1.22, 95% CI = 1.03–1.43, and P=0.018). In addition, CT genotype of rs6458155 conferred the increased plasma ET-1 levels compared with TT genotype (P<0.05). No association of the other four tagSNPs in EDN1 gene with CAD risk was observed. In conclusion, our study provides the first evidence that EDN1 tagSNP rs6458155 is associated with CAD risk in the Chinese Han population, which is probably due to the influence of the circulating ET-1 levels.

scholarly journals Role of MMP-2(-1306 C/T) and TIMP-2(-418G/C) Polymorphism in Chinese Han Patients with Acne Vulgaris

2019 ◽  
Vol 2019 ◽  
pp. 1-7
Author(s):  
Ruixue Gao ◽  
Heling Yu ◽  
Qian Zhao ◽  
Suhong Wang ◽  
Bingxue Bai
Keyword(s):  
Family History ◽  
Skin Diseases ◽  
Acne Vulgaris ◽  
Chinese Han Population ◽  
Chinese Han ◽  
Inflammatory Skin Diseases ◽  
Han Population ◽  
Significant Difference ◽  
Severity Of The Disease

Acne is the most common chronic inflammatory skin diseases. Multiple factors, such as hormonal, environmental, immunological, and genetic factors, are thought to be involved in acne. However, genetic studies have yet to elucidate the full mechanism of acne. The aim of this study was to investigate the association of MMP-2 (-1306C/T) and TIMP-2 (-418G/C) polymorphisms with the risk of acne vulgaris in a Chinese Han population. We also analyzed the correlation of clinical parameters and family history in patients with acne vulgaris. This study included 251 acne patients and 121 age- and sex-matched healthy controls. Genomic DNA was extracted from peripheral blood, and genotyping was performed by PCR and DNA sequencing techniques. There is a significant correlation between the MMP-2 (-1306C/T) polymorphism and the acne vulgaris (P<0.001). Although no association was found between the TIMP-2 (-418G/C) polymorphism and the acne vulgaris, patients with the MMP-2 CT/TIMP-2 GG or GC allele are at higher risk of acne vulgaris. There is also a significant difference in the severity of the disease between acne vulgaris patients with and without family history (P<0.001). This study indicated that the MMP-2 (-1306C/T) polymorphism, in combination with the TIMP-2 (-418G/C) polymorphism, contributes to acne vulgaris susceptibility in the Chinese Han population.

scholarly journals NPAS4 Polymorphisms Contribute to Coronary Heart Disease (CHD) Risk

2020 ◽  
Author(s):  
Yuping Yan ◽  
Xiangli Yin ◽  
Jingjie Li ◽  
Yao Sun ◽  
Jiamin Wu ◽  
...  
Keyword(s):  
Coronary Heart Disease ◽  
Heart Disease ◽  
Chinese Han Population ◽  
Chinese Han ◽  
Single Nucleotide ◽  
Han Population ◽  
Functional Studies ◽  
Chd Risk ◽  
Increased Risk

Abstract Background: As genetic inheritance is an inevitable risk factor in the development of coronary heart disease (CHD), it is critical to identify the single-nucleotide polymorphism (SNP) locus of CHD risk. This case-control study exported whether the NPAS4 polymorphisms are related to the CHD risk in the Chinese Han population. Methods: The Agena MassARRAY platform was used to genotype the five SNPs in NPAS4 from 499 CHD patients and 500 healthy controls. We used χ2 test to compare the distributions of gender, allele and genotypes frequencies between cases and controls. The logistic regression analysis was used to calculate odds ratios (ORs) and 95% confidence intervals (95% CIs). Results: The rs4466842 in NPAS4 was found to be correlated with an increased risk of CHD in overall, males and age ≤ 60. The rs117186164 and rs12785321 in NPAS4 were significantly related to an increased risk of CHD in the male and the age ≤ 60, respectively. Moreover, the haplotype AC (rs117186164 and rs4466842) in NPAS4 was significantly correlated with an increased risk of CHD. Conclusions: Our results indicated that polymorphisms (rs117186164, rs12785321, and rs4466842) in NPAS4 were significantly correlated with increased the risk of CHD in the Chinese Han population. Further association and functional studies are required to confirm the results and investigate the role of this SNP in the development of CHD.

scholarly journals Lack of association between polymorphisms in the UBASH3A gene and autoimmune thyroid disease: a case control study

2014 ◽  
Vol 58 (6) ◽  
pp. 640-645 ◽  
Author(s):  
TianTian Cai ◽  
Xuan Wang ◽  
Fatuma-Said Muhali ◽  
RongHua Song ◽  
XiaoHong Shi ◽  
...  
Keyword(s):  
Thyroid Disease ◽  
Autoimmune Thyroid Disease ◽  
Chinese Han Population ◽  
Control Group ◽  
Nucleotide Polymorphisms ◽  
Chinese Han ◽  
Han Population ◽  
Autoimmune Thyroid ◽  
Allelic Frequencies ◽  
Significant Difference

Objective: The aim of this study was to investigate UBASH3A gene variation association with autoimmune thyroid disease and clinical features in a Chinese Han population. Subjects and methods: A total of 667 AITD patients (417 GD and 250 HT) and 301 healthy controls were genotyped for two single nucleotide polymorphisms (SNPs) rs11203203, rs3788013 of UBASH3A gene, utilizing the Matrix Assisted Laser Desorption Ionization-Time of Flight Mass Spectrometer (MALDI-TOF-MS) Platform. Results: Between the control group and AITD, GD and HT group, no statistically significant difference was observed in the genotypic and allelic frequencies of the two SNPs. There was no significant difference in allelic frequencies of the two SNPs between GD with and without ophthalmopathy. There was no significant difference in haplotype distributions between the control group and AITD, GD or HT group. Conclusion: Rs11203203 and rs3788013 in UBASH3A gene may not be associated with AITD patients in Chinese Han population.

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.

PHACTR1 gene polymorphism with the risk of coronary artery disease in Chinese Han population

2019 ◽  
Vol 95 (1120) ◽  
pp. 67-71 ◽  
Author(s):  
Lishan Chen ◽  
Hang Qian ◽  
Zhihuan Luo ◽  
Dongfeng Li ◽  
Hao Xu ◽  
...  
Keyword(s):  
Coronary Artery Disease ◽  
Logistic Regression ◽  
Coronary Artery ◽  
Genetic Model ◽  
Smoking Habit ◽  
Chinese Han Population ◽  
Chinese Han ◽  
Han Population ◽  
Increased Risk ◽  
Artery Disease

BackgroundCoronary artery disease (CAD) is the most frequent multifactorial disease worldwide and is characterised by endothelial injury, lipid deposition and coronary artery calcification. The purpose of this study was to determine the allelic and genotypic frequencies of two loci (rs2026458 and rs9349379) of phosphatase and actin regulator 1 (PHACTR1) to the risk of developing CAD in the Chinese Han population.MethodsA case–control study was conducted including 332 patients with CAD and 119 controls. Genotype analysis was performed by PCR and Sanger sequencing. Genetic model analysis was performed to evaluate the association between single nucleotide polymorphisms and CAD susceptibility using Pearson’s χ2 test and logistic regression analysis.ResultsThe GG genotype of rs9349379 represented 50% and 29% of patients with CAD and controls, respectively (p<0.001). The CC genotype of rs2026458 was more prevalent in the controls than in patients with CAD compared with TT genotype (OR=0.548, 95% CI 0.351 to 0.856, p=0.008). Logistic regression analyses revealed that PHACTR1 rs9349379 GG genotype was significantly associated with increased risk of CAD in the recessive model (OR=2.359, 95% CI 1.442 to 3.862, p=0.001), even after adjusting for age gender, hypertension, type 2 diabetes, hyperlipidaemia and smoking habit. Heterogeneity test proved that rs9349379’s risk effects on CAD were more significant among women.ConclusionsOur study indicate that the PHACTR1 rs9349379 polymorphism is associated with the increased risk for CAD in the female Chinese Han population.

Haplotype analysis of the matrix metalloproteinase 3 gene and myocardial infarction in a Chinese Han population

2004 ◽  
Vol 92 (10) ◽  
pp. 867-873 ◽  
Author(s):  
Xiaoyang Zhou ◽  
Jianfeng Huang ◽  
Jianhong Chen ◽  
Shaoyong Su ◽  
Runsheng Chen ◽  
...  
Keyword(s):  
Myocardial Infarction ◽  
Matrix Metalloproteinase ◽  
Promoter Polymorphism ◽  
Chinese Han Population ◽  
Healthy Controls ◽  
Chinese Han ◽  
Han Population ◽  
Matrix Metalloproteinase 3 ◽  
Increased Risk ◽  
The Matrix

SummaryMatrix metalloproteinase (MMP) 3 plays an important role in the pathogenesis of myocardial infarction (MI). Up to now, there has been conflicting data regarding the possible contribution of the MMP3 -1612 5A/6A promoter polymorphism to MI. In this study, we have investigated the possible association of three polymorphisms (-1612 5A/6A, -376C/G, Glu45Lys) in the MMP3 gene with MI in a Chinese Han population. The polymorphisms were analyzed in 509 patients with MI, and in 518 healthy controls. The frequency of the 5A allele was 14% in the healthy controls, which is less than in Western populations (40%-52%). Logistic regression analyses of individual polymorphisms indicated that individuals carrying the -1612 5A allele had an increased risk of MI (odds ratio [OR] 1.75, 95% confidence interval [CI] 1.28 to 2.40), as did those carrying the -376 G allele (OR 1.78, 95% CI 1.33 to 2.38). The three polymorphisms studied were found to be in strong linkage disequilibria. Haplotype analyses showed that the 5A-G-Lys haplotype (-1612 5A, -376G and 45Lys) was independently associated with susceptibility to MI. Taken together, the effect of the MMP3 polymorphisms studied may be attributable to the -1612 5A/6A polymorphism. We conclude that the MMP3 -1612 5A/6A polymorphism is associated with MI in our population, implying that individuals of the 5A allele carriers have an increased risk of suffering MI.

scholarly journals Role of t-PA and PAI-1 variants in temporal lobe epilepsy in Chinese Han population

BMC Neurology ◽  
2019 ◽  
Vol 19 (1) ◽  
Author(s):  
Wenxiu Han ◽  
Pei Jiang ◽  
Yujin Guo ◽  
Pengfei Xu ◽  
Ruili Dang ◽  
...  
Keyword(s):  
Temporal Lobe Epilepsy ◽  
Temporal Lobe ◽  
Chinese Han Population ◽  
Chinese Han ◽  
Han Population ◽  
Pai 1
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