The endothelial nitric oxide synthase (eNOS) encoded by the NOS3 gene is responsible for the synthesis of a vasoactive endothelium-derived nitric oxide (NO). The genetic polymorphism of this gene explains, in part, wh...The endothelial nitric oxide synthase (eNOS) encoded by the NOS3 gene is responsible for the synthesis of a vasoactive endothelium-derived nitric oxide (NO). The genetic polymorphism of this gene explains, in part, why some people are prone to develop stroke than others. In this study we conducted a case control study in Bahrainis to investigate “for the first time” the relationship between NOS3 894G > T (rs1799983) and 786T > C (rs2070744) polymorphisms with the stroke predisposition in Bahraini population. Detection of NOS3 polymorphism was performed by PCR RFLP genotyping method. The level of NO among cases and controls was measured using ELISA. A total of 93 unrelated stroke patients and 86 controls were included in the study. The three types of stroke;Ischemic, hemorrhagic and transient ischemic attack were reported (91.4%, 7.5% and 1.1% respectively). No significant gender difference was observed (P = 0.74). Having previous stroke was a highly significant risk factor of the disease (P = 0.001, OR = 1.4), where as a family history of stroke was not (OR = 0.11). The analysis provides evidence that the mutant 894GT + TT genotypes of NOS3 894G > T polymorphism were positively associated with stroke predisposition and it increased the risk of stroke nearly two folds (P = 0.037, OR = 1.936). Although we found an association between the mutant genotype786 TC + CC of the NOS3 786T > C polymorphism with the susceptibility to stroke (P = 0.023) suggesting that the mutant C allele might have a protective effect against stroke in this population, the strength of this association was rather low (OR = 0.484). The level of NO in stroke patients was significantly low compared to healthy controls (P 0.005). Diabetes, hypertension, heart diseases were reported in stroke patients (67%, 71.4% and 52.1% respectively). More over 50% of the cases with previous stroke are both diabetic and hypertensive. This indicates that these diseases could be considered as a significant factor in the development of stroke in this population. We concluded that the NOS3-894 G > T polymorphism is a potential risk factor of stroke in Bahraini population, whereas as the NOS3 786T > C polymorphism might have a possible protective role against the disease in this population.展开更多
Objective:A strong association exists between metabolic syndrome and psoriasis.The current study was performed to explore the gene regulation of metabolic syndrome in patients with psoriasis.Methods:Patients were asse...Objective:A strong association exists between metabolic syndrome and psoriasis.The current study was performed to explore the gene regulation of metabolic syndrome in patients with psoriasis.Methods:Patients were assessed for psoriasis and metabolic syndrome clinically (Psoriasis Area and Severity Index,height,weight,waist circumference,and blood pressure) and biochemically (lipid profile and fasting blood sugar concentration).Systemic gene regulation was first explored by microarray and analyzed using Transcriptome Analysis Console Software,after which two selected upregulated genes were further validated using polymerase chain reaction and enzyme-linked immunosorbent assay and analyzed using independent samplet test.Results:The analysis showed 7,269 upregulated and 3 downregulated genes at a fold change of 2 andP value of < 0.05;only 17 genes were upregulated and none were downregulated at a fold change of 8 andP value of < 0.005.Comparison with 22 previously reported potential biomarkers of metabolic syndrome in patients with psoriasis showed that the levels of 16 biomarkers aligned with the gene regulation observed in the current study.In particular,theREL transcript was upregulated 12-fold (P = 8.16 × 10-17),while theWSB1 transcript was upregulated 9-fold (P = 9.87 × 10-13).Validation showed thatREL was also upregulated 2-fold in the polymerase chain reaction,and its protein was expressed at 7.140 ng/mLvs.undetectable levels in the cases (P = 0.048).However,WSB1 was upregulated 2-fold in the polymerase chain reaction compared with controls,and unexpectedly,its protein was undetectable in cases but detectable in controls (P = 0.018).Conclusion:The upregulation ofREL andWSB1 was observed in patients with psoriasis and metabolic syndrome,the clinical application ofREL andWSB1 as biomarkers needs further validation for potential future implications in clinical practice.展开更多
文摘The endothelial nitric oxide synthase (eNOS) encoded by the NOS3 gene is responsible for the synthesis of a vasoactive endothelium-derived nitric oxide (NO). The genetic polymorphism of this gene explains, in part, why some people are prone to develop stroke than others. In this study we conducted a case control study in Bahrainis to investigate “for the first time” the relationship between NOS3 894G > T (rs1799983) and 786T > C (rs2070744) polymorphisms with the stroke predisposition in Bahraini population. Detection of NOS3 polymorphism was performed by PCR RFLP genotyping method. The level of NO among cases and controls was measured using ELISA. A total of 93 unrelated stroke patients and 86 controls were included in the study. The three types of stroke;Ischemic, hemorrhagic and transient ischemic attack were reported (91.4%, 7.5% and 1.1% respectively). No significant gender difference was observed (P = 0.74). Having previous stroke was a highly significant risk factor of the disease (P = 0.001, OR = 1.4), where as a family history of stroke was not (OR = 0.11). The analysis provides evidence that the mutant 894GT + TT genotypes of NOS3 894G > T polymorphism were positively associated with stroke predisposition and it increased the risk of stroke nearly two folds (P = 0.037, OR = 1.936). Although we found an association between the mutant genotype786 TC + CC of the NOS3 786T > C polymorphism with the susceptibility to stroke (P = 0.023) suggesting that the mutant C allele might have a protective effect against stroke in this population, the strength of this association was rather low (OR = 0.484). The level of NO in stroke patients was significantly low compared to healthy controls (P 0.005). Diabetes, hypertension, heart diseases were reported in stroke patients (67%, 71.4% and 52.1% respectively). More over 50% of the cases with previous stroke are both diabetic and hypertensive. This indicates that these diseases could be considered as a significant factor in the development of stroke in this population. We concluded that the NOS3-894 G > T polymorphism is a potential risk factor of stroke in Bahraini population, whereas as the NOS3 786T > C polymorphism might have a possible protective role against the disease in this population.
基金supported by Arabian Gulf University, Bahrain(No. E005-PI-04/17)。
文摘Objective:A strong association exists between metabolic syndrome and psoriasis.The current study was performed to explore the gene regulation of metabolic syndrome in patients with psoriasis.Methods:Patients were assessed for psoriasis and metabolic syndrome clinically (Psoriasis Area and Severity Index,height,weight,waist circumference,and blood pressure) and biochemically (lipid profile and fasting blood sugar concentration).Systemic gene regulation was first explored by microarray and analyzed using Transcriptome Analysis Console Software,after which two selected upregulated genes were further validated using polymerase chain reaction and enzyme-linked immunosorbent assay and analyzed using independent samplet test.Results:The analysis showed 7,269 upregulated and 3 downregulated genes at a fold change of 2 andP value of < 0.05;only 17 genes were upregulated and none were downregulated at a fold change of 8 andP value of < 0.005.Comparison with 22 previously reported potential biomarkers of metabolic syndrome in patients with psoriasis showed that the levels of 16 biomarkers aligned with the gene regulation observed in the current study.In particular,theREL transcript was upregulated 12-fold (P = 8.16 × 10-17),while theWSB1 transcript was upregulated 9-fold (P = 9.87 × 10-13).Validation showed thatREL was also upregulated 2-fold in the polymerase chain reaction,and its protein was expressed at 7.140 ng/mLvs.undetectable levels in the cases (P = 0.048).However,WSB1 was upregulated 2-fold in the polymerase chain reaction compared with controls,and unexpectedly,its protein was undetectable in cases but detectable in controls (P = 0.018).Conclusion:The upregulation ofREL andWSB1 was observed in patients with psoriasis and metabolic syndrome,the clinical application ofREL andWSB1 as biomarkers needs further validation for potential future implications in clinical practice.
