PMID- 7821177 OWN - NLM STAT- MEDLINE DCOM- 19950216 LR - 20211203 IS - 0149-5992 (Print) IS - 0149-5992 (Linking) VI - 17 IP - 11 DP - 1994 Nov TI - Human leukocyte antigen class II polymorphisms and genetic susceptibility of IDDM in Egyptian children. PG - 1341-4 AB - OBJECTIVE: To analyze the association between human leukocyte antigen (HLA) and insulin-dependent diabetes mellitus (IDDM) in the Egyptian population for the first time and, thus, to determine the frequency of risk-associated alleles identified by a genomic HLA class II typing. Egyptians are genetically classified as North Africans and considered to be between Caucasoids and Africans (closer to Caucasoids). RESEARCH DESIGN AND METHODS: HLA class II typing was performed for 50 IDDM patients and 50 healthy control subjects by a restriction fragment-length polymorphism (RFLP) technique. The analysis of position 57 of the DQB1 molecules was conducted by polymerase chain reaction and specific sequence oligonucleotide hybridization. RESULTS: The frequency of DRB1*0301-DRB3*0201-DQA1*0501-DQB1*0201 haplotype was 43.9% in the IDDM patients and 7.1% in the control subjects (P < 0.00001), reflecting the increased prevalence of DQA1*0501 susceptibility allele coding for arginine (Arg) in position 52 and DQB1*0201 susceptibility allele non-coding aspartic acid (Asp) at position 57. Alleles DQB1*0601 and 0603, both carrying Asp at position 57 of the beta-chain, and DQA1*0103, encoding a non-Arg 52 alpha-chain, were significantly decreased among the IDDM patients. The presence of four susceptibility residues (two DQA1 Arg 52+ and two DQB1 Asp 57-) conferred the highest relative risk at 20.2. On the other hand, homozygous genotypes for DQA1 non-Arg 52 and DQB1 Asp 57 were found only in the control group. CONCLUSIONS: IDDM susceptibility and resistance in the Egyptian population is strongly associated with the expressed DQ alpha- and beta-heterodimers in a dose-effective manner, as already defined in many different ethnic groups. FAU - Gaber, S A AU - Gaber SA AD - Italian Hospital Umberto I, Turin. FAU - Mazzola, G AU - Mazzola G FAU - Berrino, M AU - Berrino M FAU - Canale, L AU - Canale L FAU - Cornaglia, M AU - Cornaglia M FAU - Ghali, I AU - Ghali I FAU - Sergio Curtoni, E AU - Sergio Curtoni E FAU - Amoroso, A AU - Amoroso A LA - eng PT - Journal Article PT - Research Support, Non-U.S. Gov't PL - United States TA - Diabetes Care JT - Diabetes care JID - 7805975 RN - 0 (Histocompatibility Antigens Class II) SB - IM MH - Alleles MH - Child MH - Diabetes Mellitus, Type 1/*genetics MH - Disease Susceptibility MH - Egypt MH - Female MH - Gene Frequency MH - Haplotypes MH - Histocompatibility Antigens Class II/analysis/*genetics MH - Humans MH - Male MH - Polymerase Chain Reaction MH - *Polymorphism, Genetic MH - Polymorphism, Restriction Fragment Length MH - Racial Groups EDAT- 1994/11/01 00:00 MHDA- 1994/11/01 00:01 CRDT- 1994/11/01 00:00 PHST- 1994/11/01 00:00 [pubmed] PHST- 1994/11/01 00:01 [medline] PHST- 1994/11/01 00:00 [entrez] AID - 10.2337/diacare.17.11.1341 [doi] PST - ppublish SO - Diabetes Care. 1994 Nov;17(11):1341-4. doi: 10.2337/diacare.17.11.1341.