ArticleGenes and immunity2006
Conserved extended haplotypes discriminate HLA-DR3-homozygous Basque patients with type 1 diabetes mellitus and celiac disease.
Article in Genes and immunity, 2006. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.
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Who cites it
21 citing papers in PubMed, 56 citations in OpenAlex.
- Article
- Fifty years of HLA-associated type 1 diabetes risk: history, current knowledge, and future directions.Frontiers in immunology · 2024Review
- The Path to Conserved Extended Haplotypes: Megabase-Length Haplotypes at High Population Frequency.Frontiers in genetics · 2021Review
- Haplotype Shuffling and Dimorphic Transposable Elements in the Human Extended Major Histocompatibility Complex Class II Region.Frontiers in genetics · 2021Article
- SNP-Density Crossover Maps of Polymorphic Transposable Elements and HLA Genes Within MHC Class I Haplotype Blocks and Junction.Frontiers in genetics · 2020Article
- The heterogeneous pathogenesis of type 1 diabetes mellitus.Nature reviews. Endocrinology · 2019Review
- A stochastic epigenetic Mendelian oligogenic disease model for type 1 diabetes.Journal of autoimmunity · 2019Article
- Co-occurrence of Type 1 Diabetes and Celiac Disease Autoimmunity.Pediatrics · 2017Article
- Protective effect of HLA-DQB1 alleles against alloimmunization in patients with sickle cell disease.Human immunology · 2016Article
- Intrahaplotypic Variants Differentiate Complex Linkage Disequilibrium within Human MHC Haplotypes.Scientific reports · 2015Article
- Dominant sequences of human major histocompatibility complex conserved extended haplotypes from HLA-DQA2 to DAXX.PLoS genetics · 2014Article
- Congruence as a measurement of extended haplotype structure across the genome.Journal of translational medicine · 2012Article
- HLA and celiac disease susceptibility: new genetic factors bring open questions about the HLA influence and gene-dosage effects.PloS one · 2012Article
- The past, present, and future of genetic associations in type 1 diabetes.Current diabetes reports · 2011Review
- Article
- Banting Lecture 2009: An unfinished journey: molecular pathogenesis to prevention of type 1A diabetes.Diabetes · 2010Article
- Exploring the diabetogenicity of the HLA-B18-DR3 CEH: independent association with T1D genetic risk close to HLA-DOA.Genes and immunity · 2009Article
- Defining multiple common "completely" conserved major histocompatibility complex SNP haplotypes.Clinical immunology (Orlando, Fla.) · 2009Article
- The frequent and conserved DR3-B8-A1 extended haplotype confers less diabetes risk than other DR3 haplotypes.Diabetes, obesity & metabolism · 2009Article
- HLA DR-DQ haplotypes and genotypes and type 1 diabetes risk: analysis of the type 1 diabetes genetics consortium families.Diabetes · 2008Article
Corrections and comments
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Authors and funding
14 authors at 3 institutions in 1 country.
Funding
Abstract
The major susceptibility locus for type 1 diabetes mellitus (T1D) maps to the human lymphocyte antigen (HLA) class II region in the major histocompatibility complex on chromosome 6p21. In southern European populations, like the Basques, the greatest risk to T1D is associated with DR3 homo- and heterozygosity and is comparable to that of DR3/DR4, the highest risk genotype in northern European populations. Celiac disease (CD) is another DR3-associated autoimmune disorder showing certain overlap with T1D that has been explained by the involvement of common genetic determinants, a situation more frequent in DR3-rich populations, like the Basques. As both T1D- and CD-associated HLA alleles are part of conserved extended haplotypes (CEH), we compared DR3-homozygous T1D and CD patients to determine whether CEHs were equally distributed between both disorders or there was a differential contribution of different haplotypes. We observed a very pronounced distribution bias (P<10(-5)) of the two major DR3 CEHs, with DR3-B18 predominating in T1D and DR3-B8 in CD. Additionally, high-density single nucleotide polymorphism (SNP) analysis of the complete CEH [A*30-B*18-MICA*4-F1C30-DRB1*0301-DQB1*0201-DPB1*0202] revealed extraordinary conservation throughout the 4.9 Mbp analyzed supporting the existence of additional diabetogenic variants (other than HLA-DRB1*0301-DQB1*0201), conserved within the DR3-B18 CEH (but not in other DR3 haplotypes) that could explain its enhanced diabetogenicity.
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