Introduction.

Systemic lupus erythematous (SLE) is a systemic autoimmune disease that affects different organs and systems occurs mainly in women of childbearing age. Among the predisposing factors, the genetic-related play an important role predisposing the development of this disease. Cytotoxic T lymphocyte Antigen 4 (CTLA-4) is a cell surface receptor belonging to the CD28 stimulatory molecule family, CTLA-4 is a receptor involved in the negative regulation of T lymphocytes. The polymorphism +49 (A/G) in the CTLA-4 gene has been associated as a genetic factor of susceptibility to SLE.

Objective.

To determine the association between the genetic and allelic polymorphism of + 49 (A/G) CTLA-4 gene with the susceptibility to SLE and its clinical manifestations in the Bolivian population.

Materials and methods.

160 patients were selected to the study, 80 SLE affected patients and 80 patients without SLE (control group). Genotyping was identified by Polymerase Chain Reaction and Restriction Fragment Length Polymorphism (PCR-RFLP), the amplified products were visualized by agarose gel electrophoresis.

Results.

The study showed that the G/G genotype (OR=3.33, p<0.05) and the G Allele (OR=1.79, p<0.05) of CTLA-4 are associated to an increasing risk to develop SLE. It was also observed that the A/A genotype and A allele predisposed to photosensitivity susceptibility (OR=4.73, p<0.05), the A/G genotype predisposes to renal complications (OR=7.41, p<0.05), serositis (OR= 4.94, p<0.05) and haematological complications (OR=3.2, p<0.05), while the G allele is a risk factor for the development of joint manifestations (OR= 2.35, p<0.05) and haematological manifestations (OR= 2.35, p<0.05).

Conclusion.

The presence of the G allele and the G/G genotype at position +49 of exon 1 of the CTLA-4 gene proved to be a susceptibility factor for the development of SLE and some of its clinical manifestations in the Bolivian population.

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