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1.
Braz J Med Biol Res ; 52(4): e8217, 2019 Apr 08.
Article in English | MEDLINE | ID: mdl-30970085

ABSTRACT

The aim of this study was to perform an updated meta-analysis to quantitatively investigate the association between G20210A polymorphism of Prothrombin gene and the risk of retinal vein occlusion (RVO), based on the available publications with inconsistent results. We utilized the Stata software to perform the heterogeneity test, association test, Begg's and Egger's tests, and sensitivity analysis. We searched three on-line databases (PubMed, Embase, and WOS) and obtained a total of 422 articles. Based on our selection criteria, 24 case-control studies were finally enrolled in this overall meta-analysis; a subgroup analysis by the factors ethnicity, control source, and RVO type was done. Through the association test of overall meta-analysis, we did not observe a significant difference between RVO cases and controls under the A vs G (allele) (z=1.49, P=0.137), A vs G (carrier) (z=1.42, P =0.155), GA vs GG (z=1.50, P=0.135), and GA+AA vs GG (z=1.50, P=0.135). Furthermore, we observed similar negative results in the association test of subgroup analysis (all P>0.05). Heterogeneity, Begg's, and Egger's tests excluded the presence of high heterogeneity and publication bias. Statistically stable results were observed in the sensitivity analyses. Based on integrated analysis of the current evidence, Prothrombin gene G20210A polymorphism is likely unrelated to the risk of RVO.


Subject(s)
Genetic Predisposition to Disease/genetics , Polymorphism, Genetic/genetics , Prothrombin/genetics , Retinal Vein Occlusion/genetics , Genotype , Humans , Risk Factors
2.
Rev. bras. pesqui. méd. biol ; Braz. j. med. biol. res;52(4): e8217, 2019. tab, graf
Article in English | LILACS | ID: biblio-1001511

ABSTRACT

The aim of this study was to perform an updated meta-analysis to quantitatively investigate the association between G20210A polymorphism of Prothrombin gene and the risk of retinal vein occlusion (RVO), based on the available publications with inconsistent results. We utilized the Stata software to perform the heterogeneity test, association test, Begg's and Egger's tests, and sensitivity analysis. We searched three on-line databases (PubMed, Embase, and WOS) and obtained a total of 422 articles. Based on our selection criteria, 24 case-control studies were finally enrolled in this overall meta-analysis; a subgroup analysis by the factors ethnicity, control source, and RVO type was done. Through the association test of overall meta-analysis, we did not observe a significant difference between RVO cases and controls under the A vs G (allele) (z=1.49, P=0.137), A vs G (carrier) (z=1.42, P =0.155), GA vs GG (z=1.50, P=0.135), and GA+AA vs GG (z=1.50, P=0.135). Furthermore, we observed similar negative results in the association test of subgroup analysis (all P>0.05). Heterogeneity, Begg's, and Egger's tests excluded the presence of high heterogeneity and publication bias. Statistically stable results were observed in the sensitivity analyses. Based on integrated analysis of the current evidence, Prothrombin gene G20210A polymorphism is likely unrelated to the risk of RVO.


Subject(s)
Humans , Polymorphism, Genetic/genetics , Retinal Vein Occlusion/genetics , Prothrombin/genetics , Genetic Predisposition to Disease/genetics , Risk Factors , Genotype
3.
Genet Mol Res ; 14(4): 13337-41, 2015 Oct 27.
Article in English | MEDLINE | ID: mdl-26535647

ABSTRACT

In this study, we assessed the prevalence of polymorphisms in genes involved in hyperhomocysteinemia or hemostasis to shed light on their role, if any, in retinal vein occlusion (RVO). We recruited 37 Italian patients (17 men and 20 women) with a diagnosis of central or branch RVO based on fundus examination and retinal fluorescein angiography, as well as 45 healthy controls. Risk factors and family history of RVO of all subjects were recorded. The distributions of polymorphisms in patients and controls were evaluated using the χ(2) test and OR. We confirmed an increased risk in subjects with dyslipidemia (high density lipoprotein <59 mg/dL: 17.8% of controls, 43.2% of patients, P = 0.0002; low density lipoprotein >130 mg/dL: 26.7% controls, 54.1% patients, P = 0.0002), arterial hypertension (60% controls, 75.7% patients, P = 0.023), and high body mass index (28.9% controls, 70.3% patients, P < 0.0001, and excluded involvement of the selected polymorphisms in RVO. Overall, the tested polymorphisms did not appear to be useful for assessing predisposition or for the diagnosis and prognosis of RVO.


Subject(s)
Genetic Predisposition to Disease , Polymorphism, Genetic , Retinal Vein Occlusion/epidemiology , Retinal Vein Occlusion/genetics , Aged , Aged, 80 and over , Alleles , Case-Control Studies , Female , Genotype , Humans , Italy/epidemiology , Male , Odds Ratio , Population Surveillance
4.
Arq. bras. oftalmol ; Arq. bras. oftalmol;70(6): 971-974, nov.-dez. 2007. tab
Article in Portuguese | LILACS | ID: lil-474104

ABSTRACT

PURPOSE: The association of retinal vein occlusion and hereditary thrombophilia abnormalities is not established, with controversial results in the literature. This study investigates the association between retinal vein occlusion and three thrombophilic mutations: factor V 1691A (factor V Leiden), prothrombin 20210A (PT 20210A) and homozygous methylenetetrahydrofolate reductase 677T (MTHFR 677TT). METHODS: 55 consecutive retinal vein occlusion patients and 55 controls matched by age, gender and race, were tested for the presence of the following mutations: factor V Leiden, PT 20210A and MTHFR 677TT. The frequencies of the three mutations in cases and controls were compared. RESULTS: Factor V Leiden was found in 3.6 percent of patients and in 0 percent of controls; PT 20210A was found in 1.8 percent of patients and 3.6 percent of controls, (matched-pair odds ratio, 0.5; 95 percent confidence interval, 0.04 to 5.51); MTHFR 677TT was found in 9 percent of patients and 9 percent of controls (matched-pair odds ratio, 1; 95 percent confidence interval, 0.92 to 3.45). Arterial hypertension was more frequent in patients than controls (matched-pair odds ratio, 3.4; 95 percent confidence interval, 1.25 to 9.21). CONCLUSIONS: This study suggests that thrombophilic mutations are not risk factors for RVO. Routine investigation of hereditary thrombophilia in these patients is not justified.


OBJETIVOS: A associação entre oclusão venosa retiniana e trombofilias hereditárias não está estabelecida, com resultados controversos na literatura. O presente estudo investiga a associação entre a oclusão venosa retiniana e três mutações trombofílicas: fator V 1691A (fator V Leiden), protrombina 20210A (PT 20210A) e mutação C677T do gene da metileno-tetra-hidro-folato redutase (MTHFR 677TT). MÉTODOS: Cinquenta e cinco pacientes portadores de oclusão venosa retiniana e 55 controles pareados por idade, sexo e raça foram testados para a presença das seguintes mutações: fator V Leiden, PT 20210A e MTHFR 677TT. As freqüências das três mutações em casos e controles foram comparadas. RESULTADOS: Fator V Leiden foi encontrado em 3,6 por cento dos pacientes e em 0 por cento dos controles; PT 20210A foi encontrada em 1.8 por cento dos pacientes e em 3,6 por cento dos controles, (odds ratio, 0,5; 95 por cento IC, 0,04 to 5,51); MTHFR 677TT foi encontrada em 9 por cento dos pacientes e em 9 por cento dos controles (odds ratio, 1; 95 por cento IC, 0,92 to 3,45). Hipertensão arterial foi encontrada mais freqüentemente em pacientes do que em controles (odds ratio, 3,4; 95 por cento IC, 1,25 to 9,21). CONCLUSÕES: O presente estudo sugere que mutações trombofílicas não são fatores de risco para oclusão venosa retiniana. A investigação rotineira para trombofilias hereditárias neste grupo de pacientes não é indicada.


Subject(s)
Adolescent , Adult , Aged , Aged, 80 and over , Female , Humans , Male , Middle Aged , Factor V/genetics , Mutation , /genetics , Prothrombin/genetics , Retinal Vein Occlusion/genetics , Thrombophilia/genetics , Case-Control Studies , Genetic Predisposition to Disease , Genotype , Odds Ratio , Phenotype , Polymerase Chain Reaction , Risk Factors
5.
Arq Bras Oftalmol ; 70(6): 971-4, 2007.
Article in English | MEDLINE | ID: mdl-18235909

ABSTRACT

PURPOSE: The association of retinal vein occlusion and hereditary thrombophilia abnormalities is not established, with controversial results in the literature. This study investigates the association between retinal vein occlusion and three thrombophilic mutations: factor V 1691A (factor V Leiden), prothrombin 20210A (PT 20210A) and homozygous methylenetetrahydrofolate reductase 677T (MTHFR 677TT). METHODS: 55 consecutive retinal vein occlusion patients and 55 controls matched by age, gender and race, were tested for the presence of the following mutations: factor V Leiden, PT 20210A and MTHFR 677TT. The frequencies of the three mutations in cases and controls were compared. RESULTS: Factor V Leiden was found in 3.6% of patients and in 0% of controls; PT 20210A was found in 1.8% of patients and 3.6% of controls, (matched-pair odds ratio, 0.5; 95% confidence interval, 0.04 to 5.51); MTHFR 677TT was found in 9% of patients and 9% of controls (matched-pair odds ratio, 1; 95% confidence interval, 0.92 to 3.45). Arterial hypertension was more frequent in patients than controls (matched-pair odds ratio, 3.4; 95% confidence interval, 1.25 to 9.21). CONCLUSIONS: This study suggests that thrombophilic mutations are not risk factors for RVO. Routine investigation of hereditary thrombophilia in these patients is not justified.


Subject(s)
Factor V/genetics , Methylenetetrahydrofolate Reductase (NADPH2)/genetics , Mutation , Prothrombin/genetics , Retinal Vein Occlusion/genetics , Thrombophilia/genetics , Adolescent , Adult , Aged , Aged, 80 and over , Case-Control Studies , Female , Genetic Predisposition to Disease , Genotype , Humans , Male , Middle Aged , Odds Ratio , Phenotype , Polymerase Chain Reaction , Risk Factors
6.
Blood Coagul Fibrinolysis ; 13(7): 623-6, 2002 Oct.
Article in English | MEDLINE | ID: mdl-12439148

ABSTRACT

The purpose of the present study was to investigate the role of risk factors predisposing to thrombosis in patients with central retinal vein occlusion (CRVO). We prospectively examined 37 consecutive patients with CRVO, and 144 healthy controls, for major and potential inherited and acquired thrombophilic risk factors. Among them, only the prevalence of hyperhomocysteinaemia (10/37, 27.0%) and antiphospholipid antibodies positivity (5/37, 13.5%) were significantly higher in patients with respect to controls (5.5%, P < 0.001 and 2.1%, P < 0.01, respectively). Both hyperhomocysteinaemia and antiphospholipid antibodies seem to be associated with CRVO. A search for acquired thrombophilia is advisable in patients with CRVO.


Subject(s)
Retinal Vein Occlusion/blood , Thrombophilia/etiology , Adolescent , Adult , Aged , Aged, 80 and over , Antibodies, Antiphospholipid/blood , Biomarkers/blood , Blood Proteins/analysis , Blood Proteins/genetics , Case-Control Studies , Female , Humans , Hyperhomocysteinemia/blood , Male , Middle Aged , Prospective Studies , Retinal Vein Occlusion/complications , Retinal Vein Occlusion/genetics , Risk Factors , Thrombophilia/genetics , Thrombosis/etiology , Thrombosis/genetics
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