ArticleScientific reports2015
Intrahaplotypic Variants Differentiate Complex Linkage Disequilibrium within Human MHC Haplotypes.
Article in Scientific reports, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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Who cites it
16 citing papers in PubMed, 18 citations in OpenAlex.
- Predominant HLA class I associations with lupus nephritis susceptibility, histology class and reduced renal function in patients with systemic lupus erythematosus: a retrospective case-control study.Rheumatology international · 2026Article
- Equine mesenchymal stromal cells dual-primed with TGF-β1 and IL-1β or TNF-α improve epithelial healing.Research square · 2026Article
- Article
- MHConstructor: A high-throughput, haplotype-informed solution to the MHC assembly challenge.bioRxiv : the preprint server for biology · 2024Article
- Molecular Characteristics, Functional Definitions, and Regulatory Mechanisms for Cross-Presentation Mediated by the Major Histocompatibility Complex: A Comprehensive Review.International journal of molecular sciences · 2023Review
- Evaluation of Density-Based Spatial Clustering for Identifying Genomic Loci Associated with Ischemic Stroke in Genome-Wide Data.International journal of molecular sciences · 2023Article
- Editorial: Population genomic architecture: Conserved polymorphic sequences (CPSs), not linkage disequilibrium.Frontiers in genetics · 2023Article
- Haplotype Shuffling and Dimorphic Transposable Elements in the Human Extended Major Histocompatibility Complex Class II Region.Frontiers in genetics · 2021Article
- The Path to Conserved Extended Haplotypes: Megabase-Length Haplotypes at High Population Frequency.Frontiers in genetics · 2021Review
- Genomic landscape of the signals of positive natural selection in populations of Northern Eurasia: A view from Northern Russia.PloS one · 2020Article
- SNP-Density Crossover Maps of Polymorphic Transposable Elements and HLA Genes Within MHC Class I Haplotype Blocks and Junction.Frontiers in genetics · 2020Article
- Article
- Reanalysis and optimisation of bioinformatic pipelines is critical for mutation detection.Human mutation · 2019Article
- Hidden genomic MHC disparity between HLA-matched sibling pairs in hematopoietic stem cell transplantation.Scientific reports · 2018Article
- Unique Allelic eQTL Clusters in Human MHC Haplotypes.G3 (Bethesda, Md.) · 2017Article
- Increased risk of strontium ranelate-related SJS/TEN is associated with HLA.Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA · 2016Article
Corrections and comments
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Authors and funding
5 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Distinct regions of long-range genetic fixation in the human MHC region, known as conserved extended haplotypes (CEHs), possess unique genomic characteristics and are strongly associated with numerous diseases. While CEHs appear to be homogeneous by SNP analysis, the nature of fine variations within their genomic structure is unknown. Using multiple, MHC-homozygous cell lines, we demonstrate extensive sequence conservation in two common Asian MHC haplotypes: A33-B58-DR3 and A2-B46-DR9. However, characterization of phase-resolved MHC haplotypes revealed unique intra-CEH patterns of variation and uncovered 127 single nucleotide variants (SNVs) which are missing from public databases. We further show that the strong linkage disequilibrium structure within the human MHC that typically confounds precise identification of genetic features can be resolved using intra-CEH variants, as evidenced by rs3129063 and rs448489, which affect expression of ZFP57, a gene important in methylation and epigenetic regulation. This study demonstrates an improved strategy that can be used towards genetic dissection of diseases.
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