Complement C4B null allele status confers risk for systemic lupus erythematosus in a Spanish population

• Published in: European journal of immunogenetics Vol. 25; no. 4; pp. 317 - 320
• Main Authors: Naves, M., Hajeer, A. H., Teh, L. S., Davies, E. J., Ordi-Ros, J., Perez-Pemen, P., Vilardel-Tarres, M., Thomson, W., Worthington, J., Ollier, W. E. R.
• Format: Journal Article
• Language: English
• Published: Oxford, UK Blackwell Science Ltd 01.08.1998; Blackwell
• Subjects: Alleles; Biological and medical sciences; Case-Control Studies; Complement C4b - genetics; Female; Gene Frequency; Genetic Predisposition to Disease; HLA-DR Antigens - genetics; HLA-DRB1 Chains; Humans; Lupus Erythematosus, Systemic - genetics; Lupus Erythematosus, Systemic - immunology; Male; Medical sciences; Microsatellite Repeats; Polymorphism, Genetic; Risk Factors; Sarcoidosis. Granulomatous diseases of unproved etiology. Connective tissue diseases. Elastic tissue diseases. Vasculitis; Spain; Tumor Necrosis Factor-alpha - genetics; Europe; Spain; Human; Immunopathology; Connective tissue disease; HLA-System; Skin disease; Major histocompatibility system; Silent allele; Class II histocompatibility antigen; Autoimmune disease; Genetic determinism; Immunogenetics; Association; Gene; Tumor necrosis factor; Systemic disease; C4b Complement; Lupus erythematosus; Polymorphism
• ISSN: 0960-7420; 1365-2370
• DOI: 10.1046/j.1365-2370.1998.00110.x

Genetic susceptibility to systemic lupus erythematosus (SLE) may vary amongst different populations. In UK patients, genes encoded in the HLA class II (DQA*0501/DRB1*0301) and class III [C4A*Q0 and tumour necrosis factor (TNF) polymorphisms] subregions appear to contribute to disease susceptibility. We have examined HLA‐DRB1, C4 and TNF microsatellites in 50 Spanish SLE patients and 48 matched controls. HLA‐DRB1*0301 was increased in patients but did not achieve statistical significance (41% vs. 25.5%). C4A*Q0 was not increased in patients, but C4B*Q0 allele frequency was significantly increased compared with the controls (29% vs. 6%; OR: 6.0). TNF c2 microsatellite allele frequency was also increased in SLE patients. The C4B null allele (C4B*Q0) appears to play an important role in SLE susceptibility in the Spanish population.