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Corinne Miceli-Richard

Bio: Corinne Miceli-Richard is an academic researcher from University of Paris-Sud. The author has contributed to research in topics: Medicine & B-cell activating factor. The author has an hindex of 41, co-authored 100 publications receiving 5905 citations. Previous affiliations of Corinne Miceli-Richard include French Institute of Health and Medical Research & Université Paris-Saclay.


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Journal ArticleDOI
Yukinori Okada1, Yukinori Okada2, Di Wu2, Di Wu1, Di Wu3, Gosia Trynka1, Gosia Trynka2, Towfique Raj2, Towfique Raj1, Chikashi Terao4, Katsunori Ikari, Yuta Kochi, Koichiro Ohmura4, Akari Suzuki, Shinji Yoshida, Robert R. Graham5, A. Manoharan5, Ward Ortmann5, Tushar Bhangale5, Joshua C. Denny6, Robert J. Carroll6, Anne E. Eyler6, Jeff Greenberg7, Joel M. Kremer, Dimitrios A. Pappas8, Lei Jiang9, Jian Yin9, Lingying Ye9, Ding Feng Su9, Jian Yang10, Gang Xie11, E.C. Keystone11, Harm-Jan Westra12, Tõnu Esko2, Tõnu Esko13, Tõnu Esko1, Andres Metspalu13, Xuezhong Zhou14, Namrata Gupta1, Daniel B. Mirel1, Eli A. Stahl15, Dorothee Diogo1, Dorothee Diogo2, Jing Cui2, Jing Cui1, Katherine P. Liao2, Katherine P. Liao1, Michael H. Guo1, Michael H. Guo2, Keiko Myouzen, Takahisa Kawaguchi4, Marieke J H Coenen16, Piet L. C. M. van Riel16, Mart A F J van de Laar17, Henk-Jan Guchelaar18, Tom W J Huizinga18, Philippe Dieudé19, Xavier Mariette20, S. Louis Bridges21, Alexandra Zhernakova18, Alexandra Zhernakova12, René E. M. Toes18, Paul P. Tak22, Paul P. Tak23, Paul P. Tak24, Corinne Miceli-Richard20, So Young Bang25, Hye Soon Lee25, Javier Martin26, Miguel A. Gonzalez-Gay, Luis Rodriguez-Rodriguez27, Solbritt Rantapää-Dahlqvist28, Lisbeth Ärlestig28, Hyon K. Choi2, Hyon K. Choi29, Yoichiro Kamatani30, Pilar Galan19, Mark Lathrop31, Steve Eyre32, Steve Eyre33, John Bowes33, John Bowes32, Anne Barton32, Niek de Vries22, Larry W. Moreland34, Lindsey A. Criswell35, Elizabeth W. Karlson2, Atsuo Taniguchi, Ryo Yamada4, Michiaki Kubo, Jun Liu2, Sang Cheol Bae25, Jane Worthington33, Jane Worthington32, Leonid Padyukov36, Lars Klareskog36, Peter K. Gregersen37, Soumya Raychaudhuri2, Soumya Raychaudhuri1, Barbara E. Stranger38, Philip L. De Jager1, Philip L. De Jager2, Lude Franke12, Peter M. Visscher10, Matthew A. Brown10, Hisashi Yamanaka, Tsuneyo Mimori4, Atsushi Takahashi, Huji Xu9, Timothy W. Behrens5, Katherine A. Siminovitch11, Shigeki Momohara, Fumihiko Matsuda4, Kazuhiko Yamamoto39, Robert M. Plenge2, Robert M. Plenge1 
20 Feb 2014-Nature
TL;DR: A genome-wide association study meta-analysis in a total of >100,000 subjects of European and Asian ancestries provides empirical evidence that the genetics of RA can provide important information for drug discovery, and sheds light on fundamental genes, pathways and cell types that contribute to RA pathogenesis.
Abstract: A major challenge in human genetics is to devise a systematic strategy to integrate disease-associated variants with diverse genomic and biological data sets to provide insight into disease pathogenesis and guide drug discovery for complex traits such as rheumatoid arthritis (RA)1. Here we performed a genome-wide association study meta-analysis in a total of >100,000 subjects of European and Asian ancestries (29,880 RA cases and 73,758 controls), by evaluating ~10 million single-nucleotide polymorphisms. We discovered 42 novel RA risk loci at a genome-wide level of significance, bringing the total to 101 (refs 2, 3, 4). We devised an in silico pipeline using established bioinformatics methods based on functional annotation5, cis-acting expression quantitative trait loci6 and pathway analyses7, 8, 9—as well as novel methods based on genetic overlap with human primary immunodeficiency, haematological cancer somatic mutations and knockout mouse phenotypes—to identify 98 biological candidate genes at these 101 risk loci. We demonstrate that these genes are the targets of approved therapies for RA, and further suggest that drugs approved for other indications may be repurposed for the treatment of RA. Together, this comprehensive genetic study sheds light on fundamental genes, pathways and cell types that contribute to RA pathogenesis, and provides empirical evidence that the genetics of RA can provide important information for drug discovery.

1,910 citations

Journal ArticleDOI
TL;DR: The results highlight the importance of genes that are involved in both innate and adaptive immunity in Sjögren's syndrome, including TNFAIP3, PTTG1, PRDM1, DGKQ, FCGR2A, IRAK1BP1, ITSN2 and PHIP, among others.
Abstract: Sjogren's syndrome is a common autoimmune disease (affecting ∼0.7% of European Americans) that typically presents as keratoconjunctivitis sicca and xerostomia. Here we report results of a large-scale association study of Sjogren's syndrome. In addition to strong association within the human leukocyte antigen (HLA) region at 6p21 (Pmeta = 7.65 × 10(-114)), we establish associations with IRF5-TNPO3 (Pmeta = 2.73 × 10(-19)), STAT4 (Pmeta = 6.80 × 10(-15)), IL12A (Pmeta = 1.17 × 10(-10)), FAM167A-BLK (Pmeta = 4.97 × 10(-10)), DDX6-CXCR5 (Pmeta = 1.10 × 10(-8)) and TNIP1 (Pmeta = 3.30 × 10(-8)). We also observed suggestive associations (Pmeta < 5 × 10(-5)) with variants in 29 other regions, including TNFAIP3, PTTG1, PRDM1, DGKQ, FCGR2A, IRAK1BP1, ITSN2 and PHIP, among others. These results highlight the importance of genes that are involved in both innate and adaptive immunity in Sjogren's syndrome.

417 citations

Journal ArticleDOI
TL;DR: Demonstrating the capacity of SGECs to express and secrete BAFF after IFN stimulation adds further information to the pivotal role of these epithelial cells in the pathogenesis of pSS, possibly after stimulation by innate immunity.
Abstract: B cell-activating factor (BAFF) has a key role in promoting B-lymphocyte activation and survival in primary Sjogren's syndrome (pSS). The cellular origin of BAFF overexpression in salivary glands of patients with pSS is not fully known. We investigated whether salivary gland epithelial cells (SGECs), the main targets of autoimmunity in pSS, could produce and express BAFF. We used quantitative RT-PCR, ELISA and immunocytochemistry in cultured SGECs from eight patients with pSS and eight controls on treatment with IL-10, tumor necrosis factor α (TNF-α), IFN-α and IFN-γ. At baseline, BAFF expression in SGECs was low in pSS patients and in controls. Treatment with IFN-α, IFN-γ and TNF-α + IFN-γ increased the level of BAFF mRNA in pSS patients (the mean increases were 27-fold, 25-fold and 62-fold, respectively) and in controls (mean increases 19.1-fold, 26.7-fold and 17.7-fold, respectively), with no significant difference between patients and controls. However, in comparison with that at baseline, stimulation with IFN-α significantly increased the level of BAFF mRNA in SGECs of pSS patients (p = 0.03) but not in controls (p = 0.2), which suggests that SGECs of patients with pSS are particularly susceptible to expressing BAFF under IFN-α stimulation. Secretion of BAFF protein, undetectable at baseline, was significantly increased after IFN-α and IFN-γ stimulation both in pSS patients (40.8 ± 12.5 (± SEM) and 47.4 ± 18.7 pg/ml, respectively) and controls (24.9 ± 8.0 and 9.0 ± 3.9 pg/ml, respectively), with no significant difference between pSS and controls. Immunocytochemistry confirmed the induction of cytoplasmic BAFF expression after stimulation with IFN-α and IFN-γ. This study confirms the importance of resident cells of target organs in inducing or perpetuating autoimmunity. Demonstrating the capacity of SGECs to express and secrete BAFF after IFN stimulation adds further information to the pivotal role of these epithelial cells in the pathogenesis of pSS, possibly after stimulation by innate immunity. Our results suggest that an anti-BAFF therapeutic approach could be particularly interesting in pSS.

259 citations

Journal ArticleDOI
TL;DR: BAFF may be expressed by T cells at the site of autoimmune damage and could play a role in the pathogenesis of pSS, particularly by triggering the activation of self‐antigen‐driven autoimmune B cells.
Abstract: Primary Sjogren's syndrome (pSS) is an autoimmune disorder characterized by lymphocytic infiltration of the salivary glands. Most of the infiltrating cells are T cells, but other features of the disease include polyclonal B-cell activation, systemic production of autoantibodies, and increased risk of developing B-cell non-Hodgkin's lymphoma. Recently, a new tumour necrosis factor, the B-cell activating factor (BAFF; also known as BLyS), has been implicated in the polyclonal activation of B cells. Using immunohistochemistry, this study evaluated BAFF expression in labial salivary gland biopsies from 14 patients with pSS, 14 normal controls, and two patients with sarcoidosis. Labial salivary gland samples from seven patients with pSS, seven controls, and one patient with sarcoidosis were double-stained using indirect immunofluorescence. RT-PCR analysis was also performed on lip biopsy samples from two patients and two controls. In all 14 pSS specimens, infiltrating inflammatory cells strongly expressed BAFF protein, as did some ductal epithelial cells, but acinar cells were negative. Some B cells were present in the vicinity of the BAFF-positive cells. In the 14 normal labial salivary glands, some ductal cells were moderately positive, but acinar cells were negative. In the labial salivary glands from the two patients with sarcoidosis, infiltrating lymphocytes were not stained. BAFF mRNA expression was confirmed by RT-PCR in salivary glands from pSS patients. Double immunofluorescence revealed T cells and macrophages to be the main cell types expressing BAFF in salivary glands from pSS patients. In conclusion, BAFF may be expressed by T cells at the site of autoimmune damage and could play a role in the pathogenesis of pSS, particularly by triggering the activation of self-antigen-driven autoimmune B cells. Copyright © 2004 Pathological Society of Great Britain and Ireland. Published by John Wiley & Sons, Ltd.

191 citations

Journal ArticleDOI
TL;DR: This study is the first to demonstrate a significant association between primary SS and the IRF5 rs2004640 T allele, and suggests that primarySS and SLE share IRF gene polymorphisms as a common genetic susceptibility factor.
Abstract: Objective Interferon regulatory factor 5 (IRF-5) is a transcription factor involved in the regulation of the host defense. Previous studies have demonstrated a significant association of various IRF5 gene polymorphisms with systemic lupus erythematosus (SLE) in Caucasians. The purpose of this case–control study was to investigate whether IRF5 polymorphisms are involved in the genetic predisposition to primary Sjogren's syndrome (SS), an autoimmune disease closely related to SLE. Methods We analyzed IRF5 rs2004640, rs2070197, rs10954213, and rs2280714 polymorphisms in a cohort of 212 primary SS patients and 162 healthy blood donors, all of whom were of Caucasian origin. The 4 polymorphisms examined were genotyped by competitive allele-specific polymerase chain reaction using fluorescence resonance energy transfer technology. Results The IRF5 rs2004640 GT or TT genotype (T allele carriers) was identified in 87% of primary SS patients compared with 77% of controls (P = 0.01, odds ratio [OR] 1.93 [95% confidence interval (95% CI) 1.15–3.42]). The IRF5 rs2004640 T allele was found on 59% of chromosomes from primary SS patients compared with 52% of chromosomes from controls (P = 0.04, OR 1.36 [95% CI 1.01–1.83]). No significant association of primary SS with rs2070197, rs10954213, or rs2280714 was seen when they were analyzed independently. Nevertheless, haplotype reconstructions based on the 4 polymorphisms examined suggest that various allele combinations of rs2004640 and rs2070197 could define susceptibility or protective haplotypes. Conclusion This study is the first to demonstrate a significant association between primary SS and the IRF5 rs2004640 T allele. These results, which require further replication on larger populations, suggest that besides their association with identical major histocompatibility complex gene polymorphisms, primary SS and SLE share IRF gene polymorphisms as a common genetic susceptibility factor.

179 citations


Cited by
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TL;DR: The remarkable range of discoveriesGWASs has facilitated in population and complex-trait genetics, the biology of diseases, and translation toward new therapeutics are reviewed.
Abstract: Application of the experimental design of genome-wide association studies (GWASs) is now 10 years old (young), and here we review the remarkable range of discoveries it has facilitated in population and complex-trait genetics, the biology of diseases, and translation toward new therapeutics. We predict the likely discoveries in the next 10 years, when GWASs will be based on millions of samples with array data imputed to a large fully sequenced reference panel and on hundreds of thousands of samples with whole-genome sequencing data.

2,669 citations

Journal ArticleDOI
Andre Franke1, Dermot P.B. McGovern2, Jeffrey C. Barrett3, Kai Wang4, Graham L. Radford-Smith5, Tariq Ahmad6, Charlie W. Lees7, Tobias Balschun1, James Lee8, Rebecca L. Roberts9, Carl A. Anderson3, Joshua C. Bis10, Suzanne Bumpstead3, David Ellinghaus1, Eleonora M. Festen11, Michel Georges12, Todd Green13, Talin Haritunians2, Luke Jostins3, Anna Latiano14, Christopher G. Mathew15, Grant W. Montgomery5, Natalie J. Prescott15, Soumya Raychaudhuri13, Jerome I. Rotter2, Philip Schumm16, Yashoda Sharma17, Lisa A. Simms5, Kent D. Taylor2, David C. Whiteman5, Cisca Wijmenga11, Robert N. Baldassano4, Murray L. Barclay9, Theodore M. Bayless18, Stephan Brand19, Carsten Büning20, Albert Cohen21, Jean Frederick Colombel22, Mario Cottone, Laura Stronati, Ted Denson23, Martine De Vos24, Renata D'Incà, Marla Dubinsky2, Cathryn Edwards25, Timothy H. Florin26, Denis Franchimont27, Richard B. Gearry9, Jürgen Glas28, Jürgen Glas22, Jürgen Glas19, André Van Gossum27, Stephen L. Guthery29, Jonas Halfvarson30, Hein W. Verspaget31, Jean-Pierre Hugot32, Amir Karban33, Debby Laukens24, Ian C. Lawrance34, Marc Lémann32, Arie Levine35, Cécile Libioulle12, Edouard Louis12, Craig Mowat36, William G. Newman37, Julián Panés, Anne M. Phillips36, Deborah D. Proctor17, Miguel Regueiro38, Richard K Russell39, Paul Rutgeerts40, Jeremy D. Sanderson41, Miquel Sans, Frank Seibold42, A. Hillary Steinhart43, Pieter C. F. Stokkers44, Leif Törkvist45, Gerd A. Kullak-Ublick46, David C. Wilson7, Thomas D. Walters43, Stephan R. Targan2, Steven R. Brant18, John D. Rioux47, Mauro D'Amato45, Rinse K. Weersma11, Subra Kugathasan48, Anne M. Griffiths43, John C. Mansfield49, Severine Vermeire40, Richard H. Duerr38, Mark S. Silverberg43, Jack Satsangi7, Stefan Schreiber1, Judy H. Cho17, Vito Annese14, Hakon Hakonarson4, Mark J. Daly13, Miles Parkes8 
TL;DR: A meta-analysis of six Crohn's disease genome-wide association studies and a series of in silico analyses highlighted particular genes within these loci implicated functionally interesting candidate genes including SMAD3, ERAP2, IL10, IL2RA, TYK2, FUT2, DNMT3A, DENND1B, BACH2 and TAGAP.
Abstract: We undertook a meta-analysis of six Crohn's disease genome-wide association studies (GWAS) comprising 6,333 affected individuals (cases) and 15,056 controls and followed up the top association signals in 15,694 cases, 14,026 controls and 414 parent-offspring trios. We identified 30 new susceptibility loci meeting genome-wide significance (P < 5 × 10⁻⁸). A series of in silico analyses highlighted particular genes within these loci and, together with manual curation, implicated functionally interesting candidate genes including SMAD3, ERAP2, IL10, IL2RA, TYK2, FUT2, DNMT3A, DENND1B, BACH2 and TAGAP. Combined with previously confirmed loci, these results identify 71 distinct loci with genome-wide significant evidence for association with Crohn's disease.

2,482 citations

Journal ArticleDOI
15 Jun 2017-Cell
TL;DR: It is proposed that gene regulatory networks are sufficiently interconnected such that all genes expressed in disease-relevant cells are liable to affect the functions of core disease-related genes and that most heritability can be explained by effects on genes outside core pathways.

2,257 citations

Journal ArticleDOI
TL;DR: A new method is introduced, stratified LD score regression, for partitioning heritability from GWAS summary statistics while accounting for linked markers, which is computationally tractable at very large sample sizes and leverages genome-wide information.
Abstract: Recent work has demonstrated that some functional categories of the genome contribute disproportionately to the heritability of complex diseases. Here we analyze a broad set of functional elements, including cell type-specific elements, to estimate their polygenic contributions to heritability in genome-wide association studies (GWAS) of 17 complex diseases and traits with an average sample size of 73,599. To enable this analysis, we introduce a new method, stratified LD score regression, for partitioning heritability from GWAS summary statistics while accounting for linked markers. This new method is computationally tractable at very large sample sizes and leverages genome-wide information. Our findings include a large enrichment of heritability in conserved regions across many traits, a very large immunological disease-specific enrichment of heritability in FANTOM5 enhancers and many cell type-specific enrichments, including significant enrichment of central nervous system cell types in the heritability of body mass index, age at menarche, educational attainment and smoking behavior.

1,939 citations

Journal ArticleDOI
TL;DR: The first trans-ancestry association study of IBD is reported, with genome-wide or Immunochip genotype data from an extended cohort of 86,640 European individuals and immunochip data from 9,846 individuals of East Asian, Indian or Iranian descent, implicate 38 loci in IBD risk for the first time.
Abstract: Ulcerative colitis and Crohn's disease are the two main forms of inflammatory bowel disease (IBD). Here we report the first trans-ancestry association study of IBD, with genome-wide or Immunochip genotype data from an extended cohort of 86,640 European individuals and Immunochip data from 9,846 individuals of East Asian, Indian or Iranian descent. We implicate 38 loci in IBD risk for the first time. For the majority of the IBD risk loci, the direction and magnitude of effect are consistent in European and non-European cohorts. Nevertheless, we observe genetic heterogeneity between divergent populations at several established risk loci driven by differences in allele frequency (NOD2) or effect size (TNFSF15 and ATG16L1) or a combination of these factors (IL23R and IRGM). Our results provide biological insights into the pathogenesis of IBD and demonstrate the usefulness of trans-ancestry association studies for mapping loci associated with complex diseases and understanding genetic architecture across diverse populations.

1,826 citations