scholarly journals A SNP in 5′ untranslated region of CD40 gene is associated with an increased risk of ischemic stroke in a Chinese population: a case-control study

2017 ◽  
Vol 40 (2) ◽  
pp. 442-449 ◽  
Author(s):  
Hua-Tuo Huang ◽  
Jing Guo ◽  
Yang Xiang ◽  
Jian-Ming Chen ◽  
Hong-Cheng Luo ◽  
...  
2021 ◽  
Vol 49 (6) ◽  
pp. 030006052110229
Author(s):  
Ying Li ◽  
Qing-rong Ouyang ◽  
Juan Li ◽  
Xiao-rong Chen ◽  
Lin-lin Li ◽  
...  

Objective To determine the associations between matrix metalloproteinase-2 (MMP-2, encoded by the MMP2 gene) 1306C/T and 735C/T polymorphisms and first and recurrent ischemic stroke in a Chinese population. Methods Patients with first and recurrent ischemic stroke were included. Serum MMP-2 was measured, and MMP2 1306C/T and 735C/T polymorphisms were detected. The associations between MMP2 1306C/T and 735C/T polymorphisms and first and recurrent ischemic stroke were analyzed. Results Serum MMP-2 in patients with first and recurrent ischemic stroke was significantly higher compared with controls, and patients with recurrent ischemic stroke had higher MMP-2 than those with first ischemic stroke. The frequency of the CC genotype and C allele of MMP2 735C/T was highest in patients with recurrent ischemic stroke, followed by patients with first ischemic stroke, and controls. Conversely, the genotype and allele of MMP2 1306C/T did not significantly differ between groups. The CC genotype of MMP2 735C/T was independently associated with first and recurrent ischemic stroke (odds ratios = 1.45 and 1.64, respectively), as was the C allele of MMP2 735C/T (odds ratios = 1.68 and 1.77, respectively). Conclusions The CC genotype and C allele of MMP2 735C/T were associated with first and recurrent ischemic stroke in a Chinese population.


Medicina ◽  
2019 ◽  
Vol 55 (2) ◽  
pp. 47
Author(s):  
Seyed Hashemi ◽  
Nourollah Ramroodi ◽  
Hamed Amiri Fard ◽  
Sahar Talebian ◽  
Maryam Haghighi Rohani ◽  
...  

Background and Objective: Evidence indicates that genetic factors may be involved in the risk of ischemic stroke (IS). The aim of this study was to assess the effect of genetic polymorphisms located in exons or untranslated regions of MTHFR as well as FV genes on ischemic stroke. Materials and Methods: In this case-control study, 106 patients with IS and 157 healthy volunteers (age <50 years) were genotyped for MTHFR C677T, A1298C, C2572A and C4869G, FVL, and prothrombin G20210A polymorphisms. Results: The MTHFR 677CT genotype was more frequent in patients and increased risk of IS with Odds Ratio = 1.9. The MTHFR A1298C and C2572A polymorphisms were not associated with IS in dominant and recessive models. Our findings showed a significant decrease in the MTHFR 4869CG genotype in IS patients, and this variant was associated with a decreased risk of IS in the dominant model. The CAAT haplotype was associated with increased risk, and the GAAC haplotype was associated with decreased risk of IS compared to other haplotypes. There was no relation between FVL G1691A polymorphism and IS risk. Conclusions: The present study showed that the MTHFR 677CT genotype was more frequent and the MTHFR 4869CG genotype was less frequent in young IS patients.


2013 ◽  
Vol 12 (3) ◽  
pp. 37-43
Author(s):  
Md Shaheen Wadud ◽  
Aminur Rahman ◽  
Mohammad Selim Shahi ◽  
Uttam Kumar Saha ◽  
AK Takib Uddin Ahmed ◽  
...  

Background: Epidemiologic studies have reported that microalbuminuria is a risk factor for stroke in men and a limited case control study found that the highest quintile of microalbuminuria values was associated with 13 fold increased risk for stroke. The goal of this study is designed to determine its relationship to risk factors for ischemic stroke. Materials and Methods: It was a prospective observational study conducted in the Department of Neurology, Sir Salimullah Medical College Mitford Hospital, Dhaka, Bangladesh. Fifty consecutive patients with ischemic stroke with at least two risk factors who fulfilled the inclusion criteria of case were confirmed by CT or MRI. Equal number of controls same ages without stroke who had at least two risk factors were compared with the case group. The patients were assessed clinically with structured questionnaire including blood pressure, height and weight, and monitoring blood glucose and microalbuminuria. Results: Microalbuminuria was found 58.0% in patients with ischemic stroke. Patients who had diabetes mellitus will have 13.86 times the risk for developing microalbuminuria (p<0.05). Patients who had HTN will have 4.19 times the risk for developing microalbuminuria (p<0.05) and BMI (?23 kg/m2) will have 4.24 times the risk for developing microalbuminuria with (p<0.05). Whereas TIA, IHD, dyslipidemia, smoking and positive family history were not significantly (P>0.05) associated with microalbuminuria in patients with ischemic stroke. Conclusion: The findings of this study show that diabetes is the factor most closely associated with microalbuminuria followed by HTN and BMI?23 kg/m2 with statistically significance in patients with ischemic stroke. Chattagram Maa-O-Shishu Hospital Medical College Journal Volume 12, Issue 3, September 2013: 37-43


Blood ◽  
2015 ◽  
Vol 126 (23) ◽  
pp. 3505-3505
Author(s):  
Jingdi Liu ◽  
Liang Tang ◽  
Wei Zeng ◽  
Yu Hu ◽  
Han Liu

Abstract Background: Antithrombin(AT) is a major anticoagulation molecule in vivo and is encoded by the gene SERPINC1. AT plays a key role as an inhibitor of physiological haemostasis by inhibiting the procoagulation factors, especially the factor Xa and thrombin. Objectives: To explore the variations of SERPINC1 gene associated with venous thrombosis in the Chinese population. Methods: SERPINC1 gene sequencing was carried out. A case-control study involving 1335 patients diagnosed with VT and 1315 Age- and sex-matched control individuals without a history of thrombosis were further carried out. Furthermore, plasma AT activity, AT antigen, and thrombin generation tests (TGT) were performed to evaluate the influences of the mutations. Results: Four different missense mutations were identified in an unreported hot spot region of SERPINC1. They were c.880C>T(p.Arg294Cys), c.881G>T(p.Arg294Leu), c.881G>A(p.Arg294His) and c.883G>A(p.Val295Met). All of the affected individuals were heterozygotes. In addition, c.883G>A was found to be a predominant mutation. In the case-control study, the mutation was proved to be a strong risk factor for venous thrombosis with an OR of 10.92(p<0.01, 95%CI 1.41-84.68). Functional assays showed that both the activities and antigens of plasma AT decreased mildly. Conclusion: A hot spot mutation region of SERPINC1 gene was discovered. The predominant mutation of SERPINC1 c.883G>A is the most frequent cause of AT deficiency and is associated with an increased risk of venous thrombosis in the Chinese population. Disclosures No relevant conflicts of interest to declare.


2019 ◽  
Vol 39 (9) ◽  
Author(s):  
Kangpeng Yan ◽  
Kun Wu ◽  
Chao Lin ◽  
Zhigang Jie

Abstract Previous studies have identified the prostate stem cell antigen (PSCA) gene rs2294008 C > T and rs2976392 G > A polymorphisms to be associated with the risk of gastric cancer, the results of which are inconsistent. The present study aimed to evaluate the association between the two polymorphisms and the gastric cancer risk in the Chinese population. A hospital-based case–control study was conducted on 549 cases and 592 healthy controls. Odds ratios (ORs) and 95% confidence intervals (CIs) were applied to evaluate the association of the two polymorphisms on the gastric cancer risk. We found that both rs2294008 (CT vs. CC, OR = 1.55, 95% CI = 1.20–1.99, P<0.001 and CT+TT vs. CC, OR = 1.38, 95% CI = 1.09–1.74, P=0.008) and rs2976392 (GA vs. GG, OR = 1.61, 95% CI = 1.25–2.07, P<0.001 and GA+AA vs. GG, OR = 1.52, 95% CI = 1.20–1.92, P<0.001) were associated with an increased gastric cancer. In the combined analysis of the two polymorphisms, subjects with more than one risk genotype have a significantly increased risk of gastric cancer (OR = 1.38, 95% CI = 1.09–1.75, P=0.008) in comparison with those without any risk genotypes. In conclusion, our findings verified that the PSCA gene rs2294008 and rs2976392 polymorphisms were both significantly associated with an increased risk of gastric cancer in the Chinese population. Well-designed functional studies are to be warranted to confirm these findings.


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