Meta-analysis of genome scans and replication identify CD6, IRF8 and TNFRSF1A as new multiple sclerosis susceptibility lociPhilip L De Jager
Division of Molecular Immunology, Center for Neurologic Diseases, Department of Neurology, Brigham and Women s Hospital and Harvard Medical School, Boston, MA, USA
Nat Genet 41:776-82. 2009
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- A rare penetrant mutation in CFH confers high risk of age-related macular degeneration
Soumya Raychaudhuri
Division of Genetics, Brigham and Women s Hospital, Boston, Massachusetts, USA
Nat Genet 43:1232-6. 2011
..This result suggests that loss-of-function alleles at CFH are likely to drive AMD risk. This finding represents one of the first instances in which a common complex disease variant has led to the discovery of a rare penetrant mutation...
- Five amino acids in three HLA proteins explain most of the association between MHC and seropositive rheumatoid arthritis
Soumya Raychaudhuri
Division of Genetics, Brigham and Women s Hospital, Harvard Medical School, Boston, Massachusetts, USA
Nat Genet 44:291-6. 2012
..This study shows how imputation of functional variation from large reference panels can help fine map association signals in the MHC...
- Mapping rare and common causal alleles for complex human diseases
Soumya Raychaudhuri
Division of Genetics, Brigham and Women s Hospital, Harvard Medical School, Boston, MA 02115, USA
Cell 147:57-69. 2011
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- Recent advances in the genetics of rheumatoid arthritis
Soumya Raychaudhuri
Division of Rheumatology, Immunology, and Allergy, Brigham and Women s Hospital, Boston, Massachusetts 02115, USA
Curr Opin Rheumatol 22:109-18. 2010
..To review the recently discovered genetic risk loci in rheumatoid arthritis (RA), the pathways they implicate, and the genetic architecture of RA...
- VIZ-GRAIL: visualizing functional connections across disease loci
Soumya Raychaudhuri
Divisions of Genetics and Rheumatology, Brigham and Women s Hospital, Boston, MA 02115, USA
Bioinformatics 27:1589-90. 2011
..Here, we have implemented VIZ-GRAIL, a software tool to display those relationships and to depict the underlying biological patterns...
- Common variants near FRK/COL10A1 and VEGFA are associated with advanced age-related macular degeneration
Yi Yu
Ophthalmic Epidemiology and Genetics Service, New England Eye Center, Tufts Medical Center, Tufts University School of Medicine, 800 WashingtonStreet, No 450, Boston, MA 02111, USA
Hum Mol Genet 20:3699-709. 2011
..The novel variants identified in this study suggest that angiogenesis (VEGFA) and extracellular collagen matrix (FRK/COL10A1) pathways contribute to the development of advanced AMD...
Heritability and genome-wide association study to assess genetic differences between advanced age-related macular degeneration subtypesLucia Sobrin
Department of Ophthalmology, Massachusetts Eye and Ear Infirmary, Harvard Medical School, Boston, Massachusetts, USA
Ophthalmology 119:1874-85. 2012
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- Use of a multiethnic approach to identify rheumatoid- arthritis-susceptibility loci, 1p36 and 17q12
Fina A S Kurreeman
Division of Rheumatology, Immunology, and Allergy, Brigham and Women s Hospital, Harvard Medical School, Boston, MA, 02115, USA
Am J Hum Genet 90:524-32. 2012
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- Genome-wide association study of advanced age-related macular degeneration identifies a role of the hepatic lipase gene (LIPC)
Benjamin M Neale
Center for Human Genetic Research, Massachusetts General Hospital, Boston, MA 02114, USA
Proc Natl Acad Sci U S A 107:7395-400. 2010
..Results implicate different biologic pathways than previously reported and provide new avenues for prevention and treatment of AMD...
- Genome-wide association study meta-analysis identifies seven new rheumatoid arthritis risk loci
Eli A Stahl
Division of Rheumatology, Immunology and Allergy, Brigham and Women s Hospital, Boston, Massachusetts, USA
Nat Genet 42:508-14. 2010
..An additional 11 SNPs replicated at P < 0.05, many of which are validated autoimmune risk alleles, suggesting that most represent genuine rheumatoid arthritis risk alleles...
- Rare, Low-Frequency, and Common Variants in the Protein-Coding Sequence of Biological Candidate Genes from GWASs Contribute to Risk of Rheumatoid Arthritis
Dorothée Diogo
Division of Rheumatology, Immunology, and Allergy, Brigham and Women s Hospital, Harvard Medical School, Boston, MA 02115, USA Division of Genetics, Brigham and Women s Hospital, Harvard Medical School, Boston, MA 02115, USA Medical and Population Genetics Program, Broad Institute, Cambridge, MA 02142, USA
Am J Hum Genet 92:15-27. 2013
..Further, we have demonstrated that very large sample sizes will be required for comprehensively identifying the independent alleles contributing to the missing heritability of RA...
- Rheumatoid arthritis risk allele PTPRC is also associated with response to anti-tumor necrosis factor alpha therapy
Jing Cui
Brigham and Women s Hospital, Boston, Massachusetts 02115, USA
Arthritis Rheum 62:1849-61. 2010
..The aim of the present study was to test established RA genetic risk factors to determine whether the same alleles also influence the response to anti-TNF therapy...
- Genetic basis of autoantibody positive and negative rheumatoid arthritis risk in a multi-ethnic cohort derived from electronic health records
Fina Kurreeman
Division of Rheumatology, Immunology, and Allergy and Division of Genetics, Brigham and Women s Hospital, Harvard Medical School, Boston, Massachusetts 02115, USA Program in Medical and Population Genetics, Broad Institute, Cambridge, Massachusetts 02142, USA
Am J Hum Genet 88:57-69. 2011
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- Genetic variants at CD28, PRDM1 and CD2/CD58 are associated with rheumatoid arthritis risk
Soumya Raychaudhuri
Division of Rheumatology, Immunology, and Allergy, Brigham and Women s Hospital, Boston, Massachusetts, USA
Nat Genet 41:1313-8. 2009
..0008 replication, P = 4 x 10(-6) overall) and FCGR2A (rs12746613, P = 0.0022 replication, P = 2 x 10(-5) overall). Many of these loci are also associated to other immunologic diseases...
- The PRL -1149 G/T polymorphism and rheumatoid arthritis susceptibility
Yvonne C Lee
Brigham and Women s Hospital, Boston, Massachusetts 02115, USA
Arthritis Rheum 60:1250-4. 2009
..The aim of this study was to determine the role of the PRL -1149 G/T polymorphism (rs1341239) in rheumatoid arthritis (RA) susceptibility...
- Integrating autoimmune risk loci with gene-expression data identifies specific pathogenic immune cell subsets
Xinli Hu
Division of Genetics, Brigham and Women s Hospital, Harvard Medical School, Boston, MA 02115, USA
Am J Hum Genet 89:496-506. 2011
..Our approach has application in other phenotypes, outside of autoimmunity, where many loci have been discovered and high-quality cell-type-specific gene expression is available...
- Chromatin marks identify critical cell types for fine mapping complex trait variants
Gosia Trynka
Division of Genetics, Brigham and Women s Hospital, Harvard Medical School, Boston, Massachusetts, USA
Nat Genet 45:124-30. 2013
..003) and the liver (P = 0.003), and 14 SNPs for neuropsychiatric disease in neuronal tissues (P = 0.007). We show how cell type-specific H3K4me3 peaks can inform the fine mapping of associated SNPs to identify causal variation...
- Genome-Wide Association Study and Gene Expression Analysis Identifies CD84 as a Predictor of Response to Etanercept Therapy in Rheumatoid Arthritis
Jing Cui
Division of Rheumatology, Immunology, and Allergy, Brigham and Women s Hospital, Harvard Medical School, Boston, Massachusetts, United States of America
PLoS Genet 9:e1003394. 2013
..These findings support a model in which CD84 genotypes and/or expression may serve as a useful biomarker for response to etanercept treatment in RA patients of European ancestry...
- Bayesian inference analyses of the polygenic architecture of rheumatoid arthritis
Eli A Stahl
Division of Rheumatology Immunology and Allergy, Brigham and Women s Hospital, Boston, Massachusetts, USA
Nat Genet 44:483-9. 2012
..These analyses suggest that GWAS will continue to be highly productive for the discovery of additional susceptibility loci for common diseases...
- Practical aspects of imputation-driven meta-analysis of genome-wide association studies
Paul I W de Bakker
Division of Genetics, Department of Medicine, Brigham and Women s Hospital, Harvard Medical School Partners Healthcare Systems Center for Genetics and Genomics, Boston, MA 02115, USA
Hum Mol Genet 17:R122-8. 2008
..As many groups are forming collaborations to engage in these efforts, this review collects a series of guidelines, practical detail and learned experiences from a variety of individuals who have contributed to the subject...
- Leveraging human genetics to develop future therapeutic strategies in rheumatoid arthritis
Robert M Plenge
Division of Rheumatology, Immunology and Allergy, Brigham and Women s Hospital, Harvard Medical School, 77 Avenue Louis Pasteur, Suite 168, Boston, MA 02115, USA
Rheum Dis Clin North Am 36:259-70. 2010
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- Common risk alleles for inflammatory diseases are targets of recent positive selection
Towfique Raj
Program in Translational NeuroPsychiatric Genomics, Department of Neurology, Brigham and Women s Hospital, Boston, MA 02115, USA Division of Genetics, Department of Medicine, Brigham and Women s Hospital, Boston, MA 02115, USA Harvard Medical School, Boston, MA 02115, USA Program in Medical and Population Genetics, The Broad Institute, Cambridge, MA 02139, USA
Am J Hum Genet 92:517-29. 2013
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- Rheumatoid arthritis. Evidence for a genetic component to disease severity in RA
Eli A Stahl
Divisions of Rheumatology and Genetics, Department of Medicine, Harvard Medical School, 77 Avenue Louis Pasteur, Boston, MA 02115, USA
Nat Rev Rheumatol 8:312-3. 2012
..But given clinical heterogeneity in RA, can we predict who will develop severe disease? Substantial heritability of erosive progression rates has now been identified, but better prognostic biomarkers remain wanting...
- Electronic medical records for discovery research in rheumatoid arthritis
Katherine P Liao
Brigham and Women s Hospital, Boston, Massachusetts, USA
Arthritis Care Res (Hoboken) 62:1120-7. 2010
..We assessed whether a classification algorithm incorporating narrative EMR data (typed physician notes) more accurately classifies subjects with rheumatoid arthritis (RA) compared with an algorithm using codified EMR data alone...
- Rare complete knockouts in humans: population distribution and significant role in autism spectrum disorders
Elaine T Lim
Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA 02114, USA
Neuron 77:235-42. 2013
..Taken together, these results provide compelling evidence that rare autosomal and X chromosome complete gene knockouts are important inherited risk factors for ASD...
- Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index
Elizabeth K Speliotes
Metabolism Initiative and Program in Medical and Population Genetics, Broad Institute, Cambridge, Massachusetts, USA
Nat Genet 42:937-48. 2010
..Furthermore, genes in other newly associated loci may provide new insights into human body weight regulation...
- The Lin28/let-7 axis regulates glucose metabolism
Hao Zhu
Stem Cell Transplantation Program, Division of Pediatric Hematology Oncology, Children s Hospital Boston and Dana Farber Cancer Institute, Boston, MA, USA
Cell 147:81-94. 2011
..These data establish the Lin28/let-7 pathway as a central regulator of mammalian glucose metabolism...
