title: [Evaluation of selected HLA DRB1 gene alleles as genetic markers of type I diabetes in the population of northeastern Poland].
abstract: Insulin-dependent diabetes mellitus (IDDM) is an autoimmune disease and both environmental and genetic factors play a role in its pathogenesis. The second-generation screen of human genome has confirmed that diabetes mellitus type 1 is a polygenic disease. The identification of the alleles with the highest association with IDDM in the different populations gives the opportunity for better evaluation of the probability of IDDM development in subjects at risk (i.e. first degree relatives of IDDM patients with autoantibodies against B-cells). The aim of the present study was to estimate the frequency of chosen HLA DRB1 gene alleles in patients with insulin-dependent diabetes mellitus and their first degree relatives in comparison with the healthy population in the north-eastern region of Poland. The highest predisposition to IDDM in the population of the north-eastern region of Poland was associated with DRB1*0401 allele and DRB1*03-DRB1*04 haplotype, while the dominant protection was connected with DRB1*0403 and nonDRB1*03-nonDR*04 haplotype. Our study suggests that the estimation of HLA DRB1*04 allele subtypes serves as a marker for better identification of subjects at risk of IDDM development in the first degree relatives of IDDM patients.
authors.affiliation: Kliniki Endokrynologii, Akademia Medyczna w Białymstoku. akretows@amb.ac.bialystok.pl
authors.forename: A
authors.initials: A
authors.lastname: Kretowski
authors.forename: I
authors.initials: I
authors.lastname: Kinalska
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D003922:Diabetes Mellitus, Type 1 / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D005819:Genetic Markers; D005828:Genetics, Population; D006684:HLA-DR Antigens / Q000235:genetics*; D059811:HLA-DRB1 Chains; D006801:Humans; D008297:Male; D011044:Poland
chemical_list: D005819:Genetic Markers; D006684:HLA-DR Antigens; D059811:HLA-DRB1 Chains; C553505:HLA-DRB1*04:01 antigen