SynthesisAmerican journal of human genetics2012
Use of a multiethnic approach to identify rheumatoid- arthritis-susceptibility loci, 1p36 and 17q12.
Synthesis in American journal of human genetics, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 52 papers.
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Who cites it
52 citing papers in PubMed.
- Deletion of the T1D risk geneBiochemistry and biophysics reports · 2026Article
- Distinct by Design: Unraveling the Unique Clinical and Transcriptomic Identity of Juvenile Scleromyositis Overlap Compared to Juvenile Systemic Sclerosis and Juvenile Dermatomyositis: Implications for Care and Pathogenesis.ACR open rheumatology · 2026Article
- PD-1, BTLA and TIGIT as therapeutic targets for rheumatic disease.Nature reviews. Rheumatology · 2026Review
- Review
- Effects of sphingolipid metabolism related genes-SPTLC1, ORMDL3, SPHK1 and S1PR3 polymorphisms on susceptibility to hashimoto's thyroiditis.Journal of endocrinological investigation · 2025Article
- Exploring new drug treatment targets for immune related bone diseases using a multi omics joint analysis strategy.Scientific reports · 2025Article
- ORMDL3 restrains type I interferon signaling and anti-tumor immunity by promoting RIG-I degradation.eLife · 2025Article
- Cross-Trait Genome-Wide Association Study Identifies Shared Genetic Risk Loci Between COPD and Five Autoimmune Diseases.International journal of chronic obstructive pulmonary disease · 2025Article
- Whole-Exome Sequencing and Analysis of the T Cell Receptor β and γ Repertoires in Rheumatoid Arthritis.Diagnostics (Basel, Switzerland) · 2024Article
- A Common Functional Variant at the Enhancer of the Rheumatoid Arthritis Risk GenePhenomics (Cham, Switzerland) · 2023Article
- The Association Between Breast Cancer and Blood-Based Methylation ofFrontiers in genetics · 2022Article
- Single cell sequencing analysis identifies genetics-modulated ORMDL3Journal of nanobiotechnology · 2021Article
- T and B cell abnormalities, pneumocystis pneumonia, and chronic lymphocytic leukemia associated with an AIOLOS defect in patients.The Journal of experimental medicine · 2021Article
- ORMDL3 overexpression facilitates FcεRI-mediated transcription of proinflammatory cytokines and thapsigargin-mediated PERK phosphorylation in RBL-2H3 cells.Immunity, inflammation and disease · 2021Article
- Associations between CD160 polymorphisms and autoimmune thyroid disease: a case-control study.BMC endocrine disorders · 2021Article
- Review
- Emerging insights on the role of gasdermins in infection and inflammatory diseases.Clinical & translational immunology · 2020Review
- High-throughput phenotyping with electronic medical record data using a common semi-supervised approach (PheCAP).Nature protocols · 2019Article
- Aryl hydrocarbon receptor signaling promotes ORMDL3-dependent generation of sphingosine-1-phosphate by inhibiting sphingosine-1-phosphate lyase.Cellular & molecular immunology · 2019Article
- Novel interconnections of HOG signaling revealed by combined use of two proteomic software packages.Cell communication and signaling : CCS · 2019Article
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Authors and funding
25 authors.
Funding
Abstract
We have previously shown that rheumatoid arthritis (RA) risk alleles overlap between different ethnic groups. Here, we utilize a multiethnic approach to show that we can effectively discover RA risk alleles. Thirteen putatively associated SNPs that had not yet exceeded genome-wide significance (p < 5 × 10(-8)) in our previous RA genome-wide association study (GWAS) were analyzed in independent sample sets consisting of 4,366 cases and 17,765 controls of European, African American, and East Asian ancestry. Additionally, we conducted an overall association test across all 65,833 samples (a GWAS meta-analysis plus the replication samples). Of the 13 SNPs investigated, four were significantly below the study-wide Bonferroni corrected p value threshold (p < 0.0038) in the replication samples. Two SNPs (rs3890745 at the 1p36 locus [p = 2.3 × 10(-12)] and rs2872507 at the 17q12 locus [p = 1.7 × 10(-9)]) surpassed genome-wide significance in all 16,659 RA cases and 49,174 controls combined. We used available GWAS data to fine map these two loci in Europeans and East Asians, and we found that the same allele conferred risk in both ethnic groups. A series of bioinformatic analyses identified TNFRSF14-MMEL1 at the 1p36 locus and IKZF3-ORMDL3-GSDMB at the 17q12 locus as the genes most likely associated with RA. These findings demonstrate empirically that a multiethnic approach is an effective strategy for discovering RA risk loci, and they suggest that combining GWASs across ethnic groups represents an efficient strategy for gaining statistical power.
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