Val/Leu(247) and Trp/Ser(316) polymorphisms in beta(2) glycoprotein I and their association with thrombosis in unselected Chilean patients

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dc.contributor.authorPalomo, Ivan
dc.contributor.authorPereira, Jaime
dc.contributor.authorAlarcon, Marcelo
dc.contributor.authorVasquez, Marcela
dc.contributor.authorPinochet, Carmen
dc.contributor.authorPoblete, Fernando
dc.contributor.authorMendez, Evelyn
dc.contributor.authorSandoval, Jeannette
dc.contributor.authorVidal, Rolando
dc.contributor.authorPierangeli, Silvia
dc.date.accessioned2024-01-10T14:22:23Z
dc.date.available2024-01-10T14:22:23Z
dc.date.issued2007
dc.description.abstractIt is known that polymorphisms of beta (2)-glycoprotein I (beta (2)GPI) in exon 7 affect interaction between the phospholipid binding site and the antibodies, and that other polymorphisms in exon 8 increase the generation of antibodies. In this study, we analyzed genetic polymorphisms of beta (2)GPI in unselected Chilean patients to determine the prevalence of beta (2)GPI polymorphisms in the phospholipid domain in patients with venous and arterial thrombosis and the clinical correlation with thromboembolic complications. This study comprised 149 patients with venous and arterial thrombosis (62 with venous thrombosis and 87 with arterial thrombosis) and 160 healthy controls with no previous history of thrombosis. Polymorphisms of exons 7 and 8 of beta (2)GPI, which encode for its fifth domain, were determined by PCR-RFLP. The presence of aPL or anti-beta (2)GPI in the patients was detected by ELISA. Anti-beta (2)GPI were present in 8/149 patients (5.4%); of these, five had aCL antibodies of low titer. The allele containing Val/Leu(247) and Trp/Ser(316) was significantly more frequent in patients with thrombosis than in the control group (OR=3.1, CI 1.6-6.0, p=0.0003; OR=2.9, CI 1.1-8.6, p=0.027, respectively). These polymorphisms did not correlate with aPL or anti-beta (2)GPI but significant differences were observed with venous thrombosis (p=< 0.0001) and arterial thrombosis (p=0.026). In conclusion, the beta (2)GPI polymorphisms Val/Leu(247) and Trp/Ser(316) are not related to the presence of anti-beta (2)GPI antibodies in unselected Chilean patients with venous and arterial thrombosis, but they are significantly associated with venous and arterial thrombosis.
dc.fechaingreso.objetodigital2024-03-21
dc.format.extent6 páginas
dc.fuente.origenWOS
dc.identifier.doi10.1007/s10067-006-0289-z
dc.identifier.issn0770-3198
dc.identifier.pubmedidMEDLINE:16724168
dc.identifier.urihttps://doi.org/10.1007/s10067-006-0289-z
dc.identifier.urihttps://repositorio.uc.cl/handle/11534/79925
dc.identifier.wosidWOS:000243969700004
dc.information.autorucMedicina;Pereira J;S/I;99371
dc.issue.numero3
dc.language.isoen
dc.nota.accesocontenido parcial
dc.pagina.final307
dc.pagina.inicio302
dc.publisherSPRINGER
dc.revistaCLINICAL RHEUMATOLOGY
dc.rightsacceso restringido
dc.subjectantiphospholipid antibody
dc.subjectanti-beta(2)GPI antibody
dc.subjectapolipoprotein H
dc.subjectarterial thrombosis
dc.subjectpolymorphism
dc.subjectvenous thrombosis
dc.subjectAPOLIPOPROTEIN-H BETA-2-GLYCOPROTEIN-I
dc.subjectSYSTEMIC-LUPUS-ERYTHEMATOSUS
dc.subjectPRIMARY ANTIPHOSPHOLIPID SYNDROME
dc.subjectANTICARDIOLIPIN ANTIBODIES
dc.subjectPHOSPHOLIPID-BINDING
dc.subjectVALINE/LEUCINE(247) POLYMORPHISM
dc.subjectGENETIC-VARIATION
dc.subjectI ANTIBODIES
dc.subjectPREVALENCE
dc.subjectPLASMA
dc.subject.ods05 Gender Equality
dc.subject.ods03 Good Health and Well-being
dc.subject.odspa05 Igualdad de género
dc.subject.odspa03 Salud y bienestar
dc.titleVal/Leu(247) and Trp/Ser(316) polymorphisms in beta(2) glycoprotein I and their association with thrombosis in unselected Chilean patients
dc.typeartículo
dc.volumen26
sipa.codpersvinculados99371
sipa.indexWOS
sipa.indexScopus
sipa.trazabilidadCarga SIPA;09-01-2024
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