The Immunogenetic Study On Systemic Lupus Erythematosus In The Han Nationality Of China

The cause of systemic lupus erythematosus(SLE) remains unknown . Many investigations suggested that this disease was multifactorial disorder with immunolog-ic, genetic, and ,likely,environ mental component . The studies from foreign coun-tries indicated that the disease was associated with HLA. The relationship between HLA and disease has ethnical differences . The immunogenetic characteristics of the disease in our country have only been studied by serologic methods. To study the e-tiologic factors of the disease and its association with HLA in Jiangsu province of our country . We used polymerase chain reation and sequence specific oligonu-cleotide probe hybridization (PCR/SSOPH) to study patients with SLE of Han na-tionalty in this erea at population and family level ,and investigated the association between clinical and serologic characteristics of SLE and HLA Ⅱ class genes.Ⅰ, Population study .We typed HLA—DR,DQ subregion in 80 patients with SLE of Han nationality and 70 matched control subjects using PCR/SSOPH. The results indicated that DR2 and DQ6 gene frequencies were significantly more frequent in patients than in controls. Whereas DR4 and DQA1 * 0601 significantly decreased in patients, compared with controls . The allele of DR2 related to SLE was DRB1 * 1501. Of all DQA1 and DQB1 alleles comprising DQ6,only DQA1 * 0102 significantly increased in patients than in controls . All individuals with DR2 had DQA1 * 0102. Thus we thought that DR genes were more strongly associated with SLE than were DQ genes . It is DR2 or the other unidentified genes tightly linked to it that may control susceptibility to SLE . The combination HLA—DRB1 * 1501 ,DQA1 * 0102 ,DQB1 * 0602 forms a putative disease suscepitibility haplo-type for Han's patients with SLE ,whereas DR4 and DQA1 * 0601 have a protective effect on SLE .Ⅱ, Family StudyThere are DRB1 * 1501 ,DQA1 * 0102 alleles in susceptible haplotypes related to 5 multiple case families of SLE,which verrified the results of population study that susceptibility lies within ,or telomeric to ,the DR locus . Haplotype segregation...