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Cuadernos Hospital de Clínicas

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CABRERA-CALZADILLA, S; SOSA-TORDOYA, L F; TERAN DE BAUDOIM, M de A  and  PLATA-CORNEJO, R. Genetic association between the loci hla-drb1 and hla-dqb1 with susceptibility to suffer from systemic lupus erythematosus. Cuad. - Hosp. Clín. [online]. 2018, vol.59, n.Especial, pp.22-30. ISSN 1562-6776.

ABSTRACT Immunogenetics research provides information on genetic markers associated with autoimmune diseases such as systemic lupus erythematosus (SLE), you can then observe certain risk factors or protection to the disease in a given population. To determine the genetic association between polymorphisms ofthe Major Histocompatibility Complex loci represented by the HLA-DRB1 and HLA-DQB1 with susceptibility to SLE. METHODOLOGY: We worked with 85 lupus patients and 85 patients without the disease; Human DNA was obtained from peripheral blood, PCR-SSP low and high resolution molecularly performed to establish the loci HLA-DRB1 and HLA-DQB1. Allele frequencies, which were associated with both samples using the Odds Ratio at a level of significance of 5% were determined. RESULTS: Results of PCR-SSP low-resolution HLA show that no predisposing allele plays a role, we observed that HLA-DRB1*04 allele has a protective role OR=0.49 (p=0.03). The PCR-SSP results of high resolution show that the HLA-DRB1*03:01 alleles (OR=18.3; p=0.007), DRB1*04:04 (OR=4.2; p=0.009), DRB1*09:01 (OR=18.3; p=0.007), HLA-DQB1*03:03 (OR=18.8; p=0.006) and DQB1 *02:01 (OR=21.2; p=0.003) are risk factors. We demonstrated that HLA-DRB1 *08:02 alleles (OR=0.42; p=0.003) and HLA-DQB 1*04:02 (OR=0.50; p=0.02) are ofa protective nature. CONCLUSIONS: The alleles representing LES risk in the study sample are HLA-DRB1*03:01, *04:04, *09:01 and HLA-DQB1*03:03, *02:01. The alleles having a protective character to the disease are HLA-DRB 1 *08:02 and HLA-DQB1 *04:02.

Keywords : Human Leukocyte Antigen; Systemic Lupus Erythematosus; Genetics Association; HLA-DRB1; HLA-DQB1.

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