ArticleNature genetics2015
Construction of a population-specific HLA imputation reference panel and its application to Graves' disease risk in Japanese.
Article in Nature genetics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 74 papers, 2 of them syntheses that pooled it.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
74 citing papers in PubMed, 2 syntheses or guidelines pooled it, 133 citations in OpenAlex.
- An Intronic HCP5 Variant Is Associated With Age of Onset and Susceptibility to Graves Disease in UK and Polish Cohorts.The Journal of clinical endocrinology and metabolism · 2020Pooled it
- Deep whole-genome sequencing reveals recent selection signatures linked to evolution and disease risk of Japanese.Nature communications · 2018Pooled it
- Association of HLA-DRB1 pocket structures with susceptibility and prognosis of Graves' and Hashimoto's disease.Endocrine journal · 2026Article
- Article
- Marked Increase in Thyrotropin Receptor Antibodies With the Development of Pretibial Myxedema After Total Thyroidectomy.JCEM case reports · 2025Article
- Germline variants and mosaic chromosomal alterations affect COVID-19 vaccine immunogenicity.Cell genomics · 2025Article
- Efficient HLA imputation from sequential SNPs data by transformer.Journal of human genetics · 2024Review
- Accurate multi-population imputation of MICA, MICB, HLA-E, HLA-F and HLA-G alleles from genome SNP data.PLoS computational biology · 2024Article
- Common and rare genetic variants predisposing females to unexplained recurrent pregnancy loss.Nature communications · 2024Article
- Identifying the genetic associations among the psoriasis patients in eastern India.Journal of human genetics · 2024Article
- Neoself Antigens Presented on MHC Class II Molecules in Autoimmune Diseases.Advances in experimental medicine and biology · 2024Article
- Tutorial: a statistical genetics guide to identifying HLA alleles driving complex disease.Nature protocols · 2023Review
- Contribution of an Asian-prevalent HLA haplotype to the risk of HBV-related hepatocellular carcinoma.Scientific reports · 2023Article
- Unrelated Stem Cell Donor HLA Match Likelihood in the US Registry Incorporating HLA-DPB1 Permissive Mismatching.Transplantation and cellular therapy · 2023Article
- PGG.MHC: toward understanding the diversity of major histocompatibility complexes in human populations.Nucleic acids research · 2023Article
- Blood donor biobank and HLA imputation as a resource for HLA homozygous cells for therapeutic and research use.Stem cell research & therapy · 2022Article
- Decoding the diversity of killer immunoglobulin-like receptors by deep sequencing and a high-resolution imputation method.Cell genomics · 2022Article
- Abrogation of self-tolerance by misfolded self-antigens complexed with MHC class II molecules.Science advances · 2022Article
- Transethnic analysis of psoriasis susceptibility in South Asians and Europeans enhances fine-mapping in the MHC and genomewide.HGG advances · 2022Article
- Insights into Current Management Strategies for Dysthyroid Optic Neuropathy: A Review.Clinical ophthalmology (Auckland, N.Z.) · 2022Review
14 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
8 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
To fine map association signals of human leukocyte antigen (HLA) variants in the major histocompatibility complex (MHC) region, we constructed a Japanese population-specific reference panel (n = 908). We conducted trans-ancestry comparisons of linkage disequilibrium (LD) and haplotype structure for HLA variants using an entropy-based LD measurement, ɛ, and a visualization tool to capture high-dimensional variables. Our Japanese reference panel exhibited stronger LD between HLA genes than European or other East Asian populations, characterized by one population-specific common long-range HLA haplotype. We applied HLA imputation to genome-wide association study (GWAS) data for Graves' disease in Japanese (n = 9,003) and found that amino acid polymorphisms of multiple class I and class II HLA genes independently contribute to disease risk (HLA-DPB1, HLA-A, HLA-B and HLA-DRB1; P < 2.3 × 10(-6)), with the strongest impact at HLA-DPB1 (P = 1.6 × 10(-42)). Our study illustrates the value of population-specific HLA reference panels.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.