The Journal of rheumatology
Author:
Keywords:
Arthritis, Rheumatoid, Autoimmune Diseases, Family Health, Female, Genotype, Histocompatibility Testing, Humans, Inflammatory Bowel Diseases, Lupus Erythematosus, Systemic, Male, Pedigree, Psoriasis, Science & Technology, Life Sciences & Biomedicine, Rheumatology, HLA, rheumatoid arthritis, systemic lupus erythematosus, autoimmune disease, family, SYSTEMIC LUPUS-ERYTHEMATOSUS, RHEUMATOID-ARTHRITIS, SUSCEPTIBILITY, ASSOCIATIONS, HAPLOTYPES, GENETICS, VARIANTS, GENES, DQ, 1103 Clinical Sciences, 1107 Immunology, 1117 Public Health and Health Services, Arthritis & Rheumatology, 3202 Clinical sciences, 3204 Immunology
Abstract:
OBJECTIVE: Because of the concurrence, in members of one family, of different autoimmune disorders [rheumatoid arthritis (RA), systemic lupus erythematosus (SLE), psoriasis (PS), and inflammatory bowel disease (IBD)], we investigated the genotypes of each member and compared the results with current knowledge of genetic inheritance of rheumatic and other autoimmune diseases. METHODS: Sera and peripheral blood lymphocytes of 16 family members were collected for HLA typing and investigation. RESULTS: All patients with RA were DR4 positive ad 4 of 5 showed the maternal A2B51DR4 haplotype. Two of 3 siblings with the genotype HLA-A2/3, B8/35, DR2/3 had SLE. Patients with IBD and psoriasis shared the haplotype HLA-A3, B35 CW4 DR2. CONCLUSION: The results show that the important role of patients, sex and confirm the association between HLA haplotype and RA or SLE. They support the hypothesis that autoimmunity is a mendelian dominant trait, and that secondary genes, including these of the major histocompatibility complex, confer phenotypic specificity.