NOVEL GENETIC-MARKERS OF RHEUMATOID-ARTHRITIS IN CHILEAN PATIENTS, BY DR SEROTYPING AND RESTRICTION-FRAGMENT-LENGTH-POLYMORPHISM ANALYSIS

dc.contributor.authorGONZALEZ, A
dc.contributor.authorNICOVANI, S
dc.contributor.authorMASSARDO, L
dc.contributor.authorBULL, P
dc.contributor.authorRODRIGUEZ, L
dc.contributor.authorJACOBELLI, S
dc.date.accessioned2025-01-23T19:22:16Z
dc.date.available2025-01-23T19:22:16Z
dc.date.issued1992
dc.description.abstractObjective. The analysis of genetic markers of rheumatoid arthritis (RA) in a population in which the DR4 serotype is not strongly associated with the disease.
dc.description.abstractMethods. Chilean RA patients (56 seropositive and 22 seronegative) and 141 controls were studied by serotyping. Southern blot analysis of Bam HI restriction fragment length polymorphism (RFLP) was done in genomic DNA from 46 patients with seropositive RA, 17 patients with seronegative RA, and 45 controls, using a complementary DNA probe specific for DRB1 genes.
dc.description.abstractResults. The prevalence of the HLA-DR9 haplo-type was strikingly higher in seropositive RA patients (21%) than in controls (3%) (P(corr) < 0.0008, by Fisher's exact test; relative risk [RR] = 9.34). The prevalence of DR4 and DR1 haplotypes, although slightly increased, did not achieve a significant preponderance. The simulataneous presence of two Bam HI fragments (3.6 kb and 4.5 kb) was found with higher prevalence in seropositive patients (83%; RR = 9; P(corr) < 0.00002) than in controls (36%), and seemed higher in seronegative RA patients as well (71%; RR = 4). Furthermore, its prevalence remained increased in comparisons of DR4 positive controls (36%) with DR4 positive seropositive patients (100%; RR = 67; P(corr) < 0.0002) and DR4 positive seronegative patients (100%; RR = 36; P(corr) < 0.006), even after excluding the DR9 positive individuals. A tendency toward higher association with DR1 seropositive RA patients (67%; RR = 12), a group with no DR4 or DR9 positive individuals, than in DR1 positive controls (14%), was also observed.
dc.description.abstractConclusion. The HLA-DR9 haplotype was definitively consolidated as a very strong genetic marker exclusively for seropositive RA in Chilean patients, as suggested by our previous observations. RFLP analysis showed that the simultaneous presence of 3.6-kb and 4.5-kb Bam HI fragments constituted a better RA marker than did any of the heretofore studied haplotypes. These fragments together would be linked to RA independently of the DR1, DR4, and DR9 haplotypes. The overall evidence indicates that Chilean seropositive RA patients display a genetic background that is different from that underlying RA susceptibility in other populations and suggests the existence of common, as well as distinct, genetic elements predisposing to seronegative and seropositive RA.
dc.fuente.origenWOS
dc.identifier.issn0004-3591
dc.identifier.urihttps://repositorio.uc.cl/handle/11534/99004
dc.identifier.wosidWOS:A1992HG48200005
dc.issue.numero3
dc.language.isoen
dc.pagina.final289
dc.pagina.inicio282
dc.revistaArthritis and rheumatism
dc.rightsacceso restringido
dc.subject.ods03 Good Health and Well-being
dc.subject.odspa03 Salud y bienestar
dc.titleNOVEL GENETIC-MARKERS OF RHEUMATOID-ARTHRITIS IN CHILEAN PATIENTS, BY DR SEROTYPING AND RESTRICTION-FRAGMENT-LENGTH-POLYMORPHISM ANALYSIS
dc.typeartículo
dc.volumen35
sipa.indexWOS
sipa.trazabilidadWOS;2025-01-12
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