The distribution of DR4 haplotypes in Sardinia suggests a primary association of type I diabetes with DRB1 and DQB1 loci - PubMed (original) (raw)
doi: 10.1016/0198-8859(95)00042-3.
R Lampis, F Frau, D Macis, E Angius, P Masile, M Chessa, P Frongia, M Silvetti, A Cao, S De Virgiliis, M Congia
Affiliations
- PMID: 7499178
- DOI: 10.1016/0198-8859(95)00042-3
The distribution of DR4 haplotypes in Sardinia suggests a primary association of type I diabetes with DRB1 and DQB1 loci
F Cucca et al. Hum Immunol. 1995 Aug.
Abstract
The contribution of genetic variation at HLA class II loci to the susceptibility to and protection from IDDM was investigated by analyzing the distribution of HLA-DRB1*04 haplotypes in 630 Sardinian newborns and 155 Sardinian IDDM patients. The different RRs and ARs of the various DR4-DQB1*0302 haplotypes, significantly ranging from the strongly associated DRB1*0405, DQB1*0302 to the protective DRB1*0403, DQB1*0302 haplotypes, provides clearcut evidence that the DRB1 locus is crucial in conferring IDDM predisposition or protection. Also, the DQB1 locus influences IDDM predisposition or protection by restricting the disease-positive association to DRB1*0405 haplotypes carrying the susceptibility DQB1*0302 or DQB1*0201 alleles but not the protective DQB1*0301 allele. Haplotype analysis not only suggests that the DRB1 and DQB1 loci influence IDDM risk in the same way, but also that the HLA-linked protection is "dominant" compared with "susceptibility." These results, obtained from a population with one of the highest IDDM incidences in the world, define more clearly the contribution of the various HLA loci to IDDM protection or susceptibility and allow a more precise calculation of AR.
Similar articles
- HLA-encoded susceptibility to insulin-dependent diabetes mellitus is determined by DR and DQ genes as well as their linkage disequilibria in a Chinese population.
Huang HS, Peng JT, She JY, Zhang LP, Chao CC, Liu KH, She JX. Huang HS, et al. Hum Immunol. 1995 Dec;44(4):210-9. doi: 10.1016/0198-8859(95)00108-5. Hum Immunol. 1995. PMID: 8770634 - Combinations of specific DRB1, DQA1, DQB1 haplotypes are associated with insulin-dependent diabetes mellitus in Sardinia.
Cucca F, Muntoni F, Lampis R, Frau F, Argiolas L, Silvetti M, Angius E, Cao A, De Virgiliis S, Congia M. Cucca F, et al. Hum Immunol. 1993 Jun;37(2):85-94. doi: 10.1016/0198-8859(93)90146-r. Hum Immunol. 1993. PMID: 8226139 - The distribution of HLA class II susceptible/protective haplotypes could partially explain the low incidence of type 1 diabetes in continental Italy (Lazio region).
Petrone A, Bugawan TL, Mesturino CA, Nisticò L, Galgani A, Giorgi G, Cascino I, Erlich HA, Di Mario U, Buzzetti R. Petrone A, et al. Tissue Antigens. 2001 Dec;58(6):385-94. doi: 10.1034/j.1399-0039.2001.580607.x. Tissue Antigens. 2001. PMID: 11929589 - T cell defined HLA epitopes and T cell receptor polymorphism in insulin dependent diabetes mellitus.
Sheehy MJ. Sheehy MJ. Baillieres Clin Endocrinol Metab. 1991 Jun;5(2):341-55. doi: 10.1016/s0950-351x(05)80131-4. Baillieres Clin Endocrinol Metab. 1991. PMID: 1716435 Review. - Genetic markers for insulin-dependent diabetes mellitus in Japanese.
Awata T, Kanazawa Y. Awata T, et al. Diabetes Res Clin Pract. 1994 Oct;24 Suppl:S83-7. doi: 10.1016/0168-8227(94)90232-1. Diabetes Res Clin Pract. 1994. PMID: 7859639 Review.
Cited by
- The role of HLA class II genes in insulin-dependent diabetes mellitus: molecular analysis of 180 Caucasian, multiplex families.
Noble JA, Valdes AM, Cook M, Klitz W, Thomson G, Erlich HA. Noble JA, et al. Am J Hum Genet. 1996 Nov;59(5):1134-48. Am J Hum Genet. 1996. PMID: 8900244 Free PMC article. - Age Assessment in Children and Adolescents by Measuring the Open Apices in Teeth: A New Sardinian Formula.
Spinas E, Melis G, Zerman N, De Luca S, Cameriere R. Spinas E, et al. Dent J (Basel). 2022 Mar 22;10(4):50. doi: 10.3390/dj10040050. Dent J (Basel). 2022. PMID: 35448044 Free PMC article. - Genomic history of the Sardinian population.
Chiang CWK, Marcus JH, Sidore C, Biddanda A, Al-Asadi H, Zoledziewska M, Pitzalis M, Busonero F, Maschio A, Pistis G, Steri M, Angius A, Lohmueller KE, Abecasis GR, Schlessinger D, Cucca F, Novembre J. Chiang CWK, et al. Nat Genet. 2018 Oct;50(10):1426-1434. doi: 10.1038/s41588-018-0215-8. Epub 2018 Sep 17. Nat Genet. 2018. PMID: 30224645 Free PMC article. - Clinical settings in which human leukocyte antigen typing is still useful in the diagnosis of celiac disease.
Schirru E, Rossino R, Jores RD, Corpino M, Muntoni S, Cucca F, Congia M. Schirru E, et al. World J Gastroenterol. 2025 Apr 14;31(14):104397. doi: 10.3748/wjg.v31.i14.104397. World J Gastroenterol. 2025. PMID: 40248378 Free PMC article. Review. - Genetics of the HLA region in the prediction of type 1 diabetes.
Noble JA, Valdes AM. Noble JA, et al. Curr Diab Rep. 2011 Dec;11(6):533-42. doi: 10.1007/s11892-011-0223-x. Curr Diab Rep. 2011. PMID: 21912932 Free PMC article. Review.
Publication types
MeSH terms
Substances
LinkOut - more resources
Full Text Sources
Medical
Research Materials