ArticlePloS one2012
A genome-wide homozygosity association study identifies runs of homozygosity associated with rheumatoid arthritis in the human major histocompatibility complex.
Article in PloS one, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers.
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Who cites it
27 citing papers in PubMed, 50 citations in OpenAlex.
- A missense variant in CST3 exerts a recessive effect on susceptibility to age-related macular degeneration resembling its association with Alzheimer's disease.Human genetics · 2015Trial
- Genomic diversity, inbreeding, and selection signatures in duroc, landrace, and yorkshire pigs from a long-term closed breeding system.Journal of applied genetics · 2026Article
- The Limitation of HLA Diversity as a Risk Factor for Pediatric-Onset Autoimmune Rheumatic Disease.Journal of clinical medicine · 2025Article
- The coefficients of inbreeding revealed by ROH study among inbred individuals belonging to each type of the first cousin marriage: A preliminary report from North India.Genes & genomics · 2023Article
- Genome-wide analysis of runs of homozygosity in Pakistani controls with no history of speech or language-related developmental phenotypes.Annals of human biology · 2023Article
- DNA Methylation of T Lymphocytes as a Therapeutic Target: Implications for Rheumatoid Arthritis Etiology.Frontiers in immunology · 2022Review
- Heterozygosity and homozygosity regions affect reproductive success and the loss of reproduction: A case study with litter traits in pigs.Computational and structural biotechnology journal · 2022Article
- Further host-genomic characterization of total antibody response to PRRSV vaccination and its relationship with reproductive performance in commercial sows: genome-wide haplotype and zygosity analyses.Genetics, selection, evolution : GSE · 2021Article
- Genetic analysis of four consanguineous multiplex families with inflammatory bowel disease.Gastroenterology report · 2021Article
- Runs of homozygosity analysis reveals consensus homozygous regions affecting production traits in Chinese Simmental beef cattle.BMC genomics · 2021Article
- Genetic ancestry plays a central role in population pharmacogenomics.Communications biology · 2021Article
- Genome-Wide Assessment of Runs of Homozygosity in Chinese Wagyu Beef Cattle.Animals : an open access journal from MDPI · 2020Article
- Relationship between HLA-DPA1 genetic polymorphism and anembryonic pregnancy.Molecular genetics & genomic medicine · 2020Article
- Regions of homozygosity as risk factors for multiple myeloma.Annals of human genetics · 2019Article
- Runs of homozygosity: windows into population history and trait architecture.Nature reviews. Genetics · 2018Review
- Assessing runs of Homozygosity: a comparison of SNP Array and whole genome sequence low coverage data.BMC genomics · 2018Article
- Homozygosity disequilibrium associated with treatment response and its methylation regulation.BMC proceedings · 2018Article
- Weighted likelihood inference of genomic autozygosity patterns in dense genotype data.BMC genomics · 2017Article
- GARLIC: Genomic Autozygosity Regions Likelihood-based Inference and Classification.Bioinformatics (Oxford, England) · 2017Article
- Machine learning and data mining in complex genomic data--a review on the lessons learned in Genetic Analysis Workshop 19.BMC genetics · 2016Article
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Authors and funding
5 authors at 3 institutions in 1 country.
Funding
Abstract
Rheumatoid arthritis (RA) is a chronic inflammatory disorder with a polygenic mode of inheritance. This study examined the hypothesis that runs of homozygosity (ROHs) play a recessive-acting role in the underlying RA genetic mechanism and identified RA-associated ROHs. Ours is the first genome-wide homozygosity association study for RA and characterized the ROH patterns associated with RA in the genomes of 2,000 RA patients and 3,000 normal controls of the Wellcome Trust Case Control Consortium. Genome scans consistently pinpointed two regions within the human major histocompatibility complex region containing RA-associated ROHs. The first region is from 32,451,664 bp to 32,846,093 bp (-log10(p)>22.6591). RA-susceptibility genes, such as HLA-DRB1, are contained in this region. The second region ranges from 32,933,485 bp to 33,585,118 bp (-log10(p)>8.3644) and contains other HLA-DPA1 and HLA-DPB1 genes. These two regions are physically close but are located in different blocks of linkage disequilibrium, and ∼40% of the RA patients' genomes carry these ROHs in the two regions. By analyzing homozygote intensities, an ROH that is anchored by the single nucleotide polymorphism rs2027852 and flanked by HLA-DRB6 and HLA-DRB1 was found associated with increased risk for RA. The presence of this risky ROH provides a 62% accuracy to predict RA disease status. An independent genomic dataset from 868 RA patients and 1,194 control subjects of the North American Rheumatoid Arthritis Consortium successfully validated the results obtained using the Wellcome Trust Case Control Consortium data. In conclusion, this genome-wide homozygosity association study provides an alternative to allelic association mapping for the identification of recessive variants responsible for RA. The identified RA-associated ROHs uncover recessive components and missing heritability associated with RA and other autoimmune diseases.
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