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[Plasminogen activator inhibitor type 1 gene polymorphism and thromboses in patients with antiphospholipid syndrome].
Ter Arkh. 2013; 85(1):76-84.TA

Abstract

AIM

To estimate the prevalence of plasminogen activator inhibitor type 1 (PAI-1) gene polymorphism in patients with antiphospholipid syndrome (APS) and its implication in vascular disorders.

SUBJECTS AND METHODS

The investigation enrolled 138 patients: 103 with APS, including 47 with systemic lupus erythematosus (SLE) + APS and 56 with primary APS (PAPS), 15 with SLE without APS, 20 with idiopathic thrombosis (IT), a control group (30 apparently healthy individuals). Thrombosis at various sites was recorded in 91 (88%) of the 103 patients with APS. The authors analyzed both the presence of thrombotic events in all the groups and the number of cases of thrombosis in each patient. Antiphospholipid antibodies, such as lupus anticoagulant, anticardiolipin antibodies, and anti-beta2-glycoprotein type 1 antibodies, were studied in all the patients. To diagnose a genotype in patients by the code encoding for PAI-1, DNA isolated from peripheral blood by standard methods was used and further investigated by real-time polymerase chain reaction.

RESULTS

Out of 91 patients with APS and thrombosis, 27 (30%) had the 4G/4G genotype, which corresponded to homozygous mutation in the PAI-1 gene, 50 (55%) had the 4G/5G genotype (heterozygous mutation), and 14 (15%) had the 5G/5G (a normal genotype). The PAI-1 4G/5G genotype was present in 22 (70%) of 31 patients with SLE + APS and lower limb deep vein thrombosis versus 17 (470%) of 36 patients with PAPS (odds ratio (OR) 2.73; 95% confidence interval (CI), 0.89 to 8.59; p = 0.08) and in 9 (90%) of 10 patients with SLE + APS and pulmonary artery thromboembolism versus 8 (40%) of 20 patients with PAPS (OR 13,5; 95% CI, 1.23 to 344.98; p = 0.02). The incidence of thrombosis per 100 person-years was higher in the PAI-1 4G/4G and 4G/5G groups: 35.4 and 28.1 cases per 100 person-years, respectively. Thromboses were least often in the group of patients with the PAI-1 5G/5G genotype (18.6).

CONCLUSION

The prevalence of the PAI-1 5G/5G genotype in patients with APS and thrombosis was significantly lower than in those with SLE without APS or thrombosis. The 4G/5G polymorphism in APS in the presence of SLE was associated with venous thromboembolisms whereas in PAPS there was no relationship between the PAI-1 genotype, a history of thrombosis, and its localization.

Authors

Reshetniak TM
No affiliation info available
Ostriakova EV
No affiliation info available
Patrusheva NL
No affiliation info available
Patrushev LI
No affiliation info available
Aleksandrova EN
No affiliation info available
Seredavkina NV
No affiliation info available
Volkov AV
No affiliation info available
Nasonov EL
No affiliation info available

MeSH

AdultAllelesAntiphospholipid SyndromeDNAFemaleGene FrequencyGenotypeHumansIncidenceMalePlasminogen Activator Inhibitor 1Polymorphism, GeneticPromoter Regions, GeneticReal-Time Polymerase Chain ReactionRussiaThrombosis

Pub Type(s)

Comparative Study
English Abstract
Journal Article

Language

rus

PubMed ID

23536951

Citation

Reshetniak, T M., et al. "[Plasminogen Activator Inhibitor Type 1 Gene Polymorphism and Thromboses in Patients With Antiphospholipid Syndrome]." Terapevticheskii Arkhiv, vol. 85, no. 1, 2013, pp. 76-84.
Reshetniak TM, Ostriakova EV, Patrusheva NL, et al. [Plasminogen activator inhibitor type 1 gene polymorphism and thromboses in patients with antiphospholipid syndrome]. Ter Arkh. 2013;85(1):76-84.
Reshetniak, T. M., Ostriakova, E. V., Patrusheva, N. L., Patrushev, L. I., Aleksandrova, E. N., Seredavkina, N. V., Volkov, A. V., & Nasonov, E. L. (2013). [Plasminogen activator inhibitor type 1 gene polymorphism and thromboses in patients with antiphospholipid syndrome]. Terapevticheskii Arkhiv, 85(1), 76-84.
Reshetniak TM, et al. [Plasminogen Activator Inhibitor Type 1 Gene Polymorphism and Thromboses in Patients With Antiphospholipid Syndrome]. Ter Arkh. 2013;85(1):76-84. PubMed PMID: 23536951.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - [Plasminogen activator inhibitor type 1 gene polymorphism and thromboses in patients with antiphospholipid syndrome]. AU - Reshetniak,T M, AU - Ostriakova,E V, AU - Patrusheva,N L, AU - Patrushev,L I, AU - Aleksandrova,E N, AU - Seredavkina,N V, AU - Volkov,A V, AU - Nasonov,E L, PY - 2013/3/29/entrez PY - 2013/3/29/pubmed PY - 2013/5/15/medline SP - 76 EP - 84 JF - Terapevticheskii arkhiv JO - Ter Arkh VL - 85 IS - 1 N2 - AIM: To estimate the prevalence of plasminogen activator inhibitor type 1 (PAI-1) gene polymorphism in patients with antiphospholipid syndrome (APS) and its implication in vascular disorders. SUBJECTS AND METHODS: The investigation enrolled 138 patients: 103 with APS, including 47 with systemic lupus erythematosus (SLE) + APS and 56 with primary APS (PAPS), 15 with SLE without APS, 20 with idiopathic thrombosis (IT), a control group (30 apparently healthy individuals). Thrombosis at various sites was recorded in 91 (88%) of the 103 patients with APS. The authors analyzed both the presence of thrombotic events in all the groups and the number of cases of thrombosis in each patient. Antiphospholipid antibodies, such as lupus anticoagulant, anticardiolipin antibodies, and anti-beta2-glycoprotein type 1 antibodies, were studied in all the patients. To diagnose a genotype in patients by the code encoding for PAI-1, DNA isolated from peripheral blood by standard methods was used and further investigated by real-time polymerase chain reaction. RESULTS: Out of 91 patients with APS and thrombosis, 27 (30%) had the 4G/4G genotype, which corresponded to homozygous mutation in the PAI-1 gene, 50 (55%) had the 4G/5G genotype (heterozygous mutation), and 14 (15%) had the 5G/5G (a normal genotype). The PAI-1 4G/5G genotype was present in 22 (70%) of 31 patients with SLE + APS and lower limb deep vein thrombosis versus 17 (470%) of 36 patients with PAPS (odds ratio (OR) 2.73; 95% confidence interval (CI), 0.89 to 8.59; p = 0.08) and in 9 (90%) of 10 patients with SLE + APS and pulmonary artery thromboembolism versus 8 (40%) of 20 patients with PAPS (OR 13,5; 95% CI, 1.23 to 344.98; p = 0.02). The incidence of thrombosis per 100 person-years was higher in the PAI-1 4G/4G and 4G/5G groups: 35.4 and 28.1 cases per 100 person-years, respectively. Thromboses were least often in the group of patients with the PAI-1 5G/5G genotype (18.6). CONCLUSION: The prevalence of the PAI-1 5G/5G genotype in patients with APS and thrombosis was significantly lower than in those with SLE without APS or thrombosis. The 4G/5G polymorphism in APS in the presence of SLE was associated with venous thromboembolisms whereas in PAPS there was no relationship between the PAI-1 genotype, a history of thrombosis, and its localization. SN - 0040-3660 UR - https://www.unboundmedicine.com/medline/citation/23536951/[Plasminogen_activator_inhibitor_type_1_gene_polymorphism_and_thromboses_in_patients_with_antiphospholipid_syndrome]_ L2 - http://www.diseaseinfosearch.org/result/522 DB - PRIME DP - Unbound Medicine ER -