We are primarily a genetics lab using genomic technologies to understand autoimmune, fibrotic, and health disparity conditions. We have taken a comprehensive approach toward identifying both common and rare variants associated with disease susceptibility.

To identify common variants, we perform SNP microarray genotyping and imputation for fine-mapping, followed by a genome-wide association study (GWAS) to identify disease-associated genetic variants. To identify rare variants, we utilize high-throughput DNA sequencing platforms for whole genome or whole exome sequencing followed by variant annotation and scoring to prioritize causal variants. We also use gene mapping tools to identify genetic loci associated with traits in recently admixed populations (admixture mapping).

Another goal of our lab is to understand transcriptional regulation of these disease-associated genes using cutting-edge technologies, including RNA-seq, eQTL, Hi-C, ATAC-seq, ChIP-seq, CUT&RUN, CRISPR-Cas9 genetic screens, and bioinformatics.

Focus Areas


Map of the USA showing the states and locations of the 25 GRASP centers.
Locations of the 25 GRASP consortium centers.

Scleroderma (systemic sclerosis) is a chronic, multi-system, autoimmune disease characterized by progressive fibrosis of the skin and internal organs. There is a health disparity in African Americans, who have an increased prevalence of scleroderma compared to European Americans.

We have established the Genome Research in African American Scleroderma Patients (GRASP) consortium. It is comprised of 25 centers across the United States. Our goal is to enroll African American scleroderma patients and perform admixture mapping to identify ancestry-specific variants contributing to increased disease risk in this population.


Antibodies directed towards self-antigens are a hallmark of autoimmune diseases. We are interested in understanding the timing and development of autoantibodies in the pre-clinical phase of autoimmune diseases. Human leukocyte antigen (HLA) genes have the strongest influence on autoimmune disease susceptibility and these HLA alleles encode variations in the antigen-binding grooves of the HLA molecules that determine their binding affinity for specific antigens presented to T cells. T cells recognize these peptide-HLA complexes by the T cell receptor (TCR), located on the surface of T cells. We are using next generation sequencing technologies to analyze the extreme diversity of the TCR repertoire. Elucidating the role of the HLA molecules in antigen recognition, peptide presentation and autoimmunity induction is an important area of focus. We are also exploring the link between HLA alleles, autoantibodies, and environmental triggers in the pathogenesis of autoimmune diseases.

The Regulome Project

dna icon

The NIH Regulome Project was established in 2010 as an ongoing collaboration of intramural and invited extramural research groups.

Its primary goal is to understand transcriptional regulation in mammalian systems using cutting-edge technologies, including Hi-C and derivatives, single-molecule microscopy, real-time transcriptional assays, cryo-EM, genomics, biological modeling, CRISPR-Cas9 genetic screens, neural networks, and biophysics.

Core Research Facilities

Labs at the NIAMS are supported by the following state-of-the-art facilities and services:



Our lab is always seeking to attract diverse and talented candidates. If you are interested in joining our team, please contact us.

Former Lab Members

Emilee Stenson, Postbaccalaureate Fellow (2021-2022)
Pursuing M.D. at Jacobs School of Medicine and Biomedical Sciences at the University at Buffalo

Akshaya Anand, Postbaccalaureate Fellow (2020-2021)

Julia Hartman, Postbaccalaureate Fellow (2019-2021)
Pursuing M.D./Ph.D. at Virginia Commonwealth University School of Medicine

Chloe Borden, Postbaccalaureate Fellow (2019-2021)
Pursuing M.D. at Cleveland Clinic Lerner College of Medicine, Case Western Reserve University

Janet Wang, Postbaccalaureate Fellow (2019-2020)
Pursuing M.D. at University of Toledo College of Medicine and Life Sciences

Sarah Ayla Safran, Postbaccalaureate Fellow (2018-2019)
Pursuing M.D. at Columbia University Vagelos College of Physicians and Surgeons

Theresa Alexander, Postbaccalaureate Fellow (2017-2018)
Pursuing Ph.D. in Computational Biology at University of Maryland, College Park

Image & Media Gallery

Scientific Publications

Selected Recent Publications

Risk Factors for COVID-19 and Rheumatic Disease Flare in a US Cohort of Latino Patients.

Fike A, Hartman J, Redmond C, Williams SG, Ruiz-Perdomo Y, Chu J, Hasni S, Ward MM, Katz JD, Gourh P
Arthritis Rheumatol.
2021 Jul;
doi: 10.1002/art.41656
PMID: 33455077

Use of Magnetic Resonance Imaging to Identify Immune Checkpoint Inhibitor-Induced Inflammatory Arthritis.

Subedi A, Williams SG, Yao L, Maharjan S, Strauss J, Sharon E, Thomas A, Apolo AB, Gourh P, Hasni SA, Gulley JL, Kaplan MJ, Katz JD, Gupta S
JAMA Netw Open.
2020 Feb 5;
doi: 10.1001/jamanetworkopen.2020.0032
PMID: 32101306

HLA and autoantibodies define scleroderma subtypes and risk in African and European Americans and suggest a role for molecular mimicry.

Gourh P, Safran SA, Alexander T, Boyden SE, Morgan ND, Shah AA, Mayes MD, Doumatey A, Bentley AR, Shriner D, Domsic RT, Medsger TA Jr, Ramos PS, Silver RM, Steen VD, Varga J, Hsu V, Saketkoo LA, Schiopu E, Khanna D, Gordon JK, Kron B, Criswell LA, Gladue H, Derk CT, Bernstein EJ, Bridges SL Jr, Shanmugam VK, Kolstad KD, Chung L, Kafaja S, Jan R, Trojanowski M, Goldberg A, Korman BD, Steinbach PJ, Chandrasekharappa SC, Mullikin JC, Adeyemo A, Rotimi C, Wigley FM, Kastner DL, Boin F, Remmers EF
Proc Natl Acad Sci U S A.
2020 Jan 7;
doi: 10.1073/pnas.1906593116
PMID: 31871193

Brief Report: Whole-Exome Sequencing to Identify Rare Variants and Gene Networks That Increase Susceptibility to Scleroderma in African Americans.

Gourh P, Remmers EF, Boyden SE, Alexander T, Morgan ND, Shah AA, Mayes MD, Doumatey A, Bentley AR, Shriner D, Domsic RT, Medsger TA Jr, Steen VD, Ramos PS, Silver RM, Korman B, Varga J, Schiopu E, Khanna D, Hsu V, Gordon JK, Saketkoo LA, Gladue H, Kron B, Criswell LA, Derk CT, Bridges SL Jr, Shanmugam VK, Kolstad KD, Chung L, Jan R, Bernstein EJ, Goldberg A, Trojanowski M, Kafaja S, Maksimowicz-McKinnon KM, Mullikin JC, Adeyemo A, Rotimi C, Boin F, Kastner DL, Wigley FM
Arthritis Rheumatol.
2018 Oct;
doi: 10.1002/art.40541
PMID: 29732714

Clinical and serological features of systemic sclerosis in a multicenter African American cohort: Analysis of the genome research in African American scleroderma patients clinical database.

Morgan ND, Shah AA, Mayes MD, Domsic RT, Medsger TA Jr, Steen VD, Varga J, Carns M, Ramos PS, Silver RM, Schiopu E, Khanna D, Hsu V, Gordon JK, Gladue H, Saketkoo LA, Criswell LA, Derk CT, Trojanowski MA, Shanmugam VK, Chung L, Valenzuela A, Jan R, Goldberg A, Remmers EF, Kastner DL, Wigley FM, Gourh P, Boin F
Medicine (Baltimore).
2017 Dec;
doi: 10.1097/MD.0000000000008980
PMID: 29390428

Phenotypic and Genotypic Characterization and Treatment of a Cohort With Familial Tumoral Calcinosis/Hyperostosis-Hyperphosphatemia Syndrome.

Ramnitz MS, Gourh P, Goldbach-Mansky R, Wodajo F, Ichikawa S, Econs MJ, White KE, Molinolo A, Chen MY, Heller T, Del Rivero J, Seo-Mayer P, Arabshahi B, Jackson MB, Hatab S, McCarthy E, Guthrie LC, Brillante BA, Gafni RI, Collins MT
J Bone Miner Res.
2016 Oct;
doi: 10.1002/jbmr.2870
PMID: 27164190

Independent replication and meta analysis of association studies establish TNFSF4 as a susceptibility gene preferentially associated with the subset of anticentromere-positive patients with systemic sclerosis.

Coustet B, Bouaziz M, Dieudé P, Guedj M, Bossini-Castillo L, Agarwal S, Radstake T, Martin J, Gourh P, Elhai M, Koumakis E, Avouac J, Ruiz B, Mayes M, Arnett F, Hachulla E, Diot E, Cracowski JL, Tiev K, Sibilia J, Mouthon L, Frances C, Amoura Z, Carpentier P, Cosnes A, Meyer O, Kahan A, Boileau C, Chiocchia G, Allanore Y
J Rheumatol.
2012 May;
doi: 10.3899/jrheum.111270
PMID: 22422496

Novel identification of the IRF7 region as an anticentromere autoantibody propensity locus in systemic sclerosis.

Carmona FD, Gutala R, Simeón CP, Carreira P, Ortego-Centeno N, Vicente-Rabaneda E, García-Hernández FJ, García de la Peña P, Fernández-Castro M, Martínez-Estupiñán L, Egurbide MV, Tsao BP, Gourh P, Agarwal SK, Assassi S, Mayes MD, Arnett FC, Tan FK, Martín J, Spanish Scleroderma Group
Ann Rheum Dis.
2012 Jan;
doi: 10.1136/annrheumdis-2011-200275
PMID: 21926187

Identification of novel genetic markers associated with clinical phenotypes of systemic sclerosis through a genome-wide association strategy.

Gorlova O, Martin JE, Rueda B, Koeleman BP, Ying J, Teruel M, Diaz-Gallo LM, Broen JC, Vonk MC, Simeon CP, Alizadeh BZ, Coenen MJ, Voskuyl AE, Schuerwegh AJ, van Riel PL, Vanthuyne M, van 't Slot R, Italiaander A, Ophoff RA, Hunzelmann N, Fonollosa V, Ortego-Centeno N, González-Gay MA, García-Hernández FJ, González-Escribano MF, Airo P, van Laar J, Worthington J, Hesselstrand R, Smith V, de Keyser F, Houssiau F, Chee MM, Madhok R, Shiels PG, Westhovens R, Kreuter A, de Baere E, Witte T, Padyukov L, Nordin A, Scorza R, Lunardi C, Lie BA, Hoffmann-Vold AM, Palm O, García de la Peña P, Carreira P, Spanish Scleroderma Group, Varga J, Hinchcliff M, Lee AT, Gourh P, Amos CI, Wigley FM, Hummers LK, Nelson JL, Riemekasten G, Herrick A, Beretta L, Fonseca C, Denton CP, Gregersen PK, Agarwal S, Assassi S, Tan FK, Arnett FC, Radstake TR, Mayes MD, Martin J
PLoS Genet.
2011 Jul;
doi: 10.1371/journal.pgen.1002178
PMID: 21779181

Association study of ITGAM, ITGAX, and CD58 autoimmune risk loci in systemic sclerosis: results from 2 large European Caucasian cohorts.

Coustet B, Agarwal SK, Gourh P, Guedj M, Mayes MD, Dieude P, Wipff J, Avouac J, Hachulla E, Diot E, Cracowski JL, Tiev K, Sibilia J, Mouthon L, Frances C, Amoura Z, Carpentier P, Meyer O, Kahan A, Boileau C, Arnett FC, Allanore Y
J Rheumatol.
2011 Jun;
doi: 10.3899/jrheum.101053
PMID: 21362770

Analysis of the influence of PTPN22 gene polymorphisms in systemic sclerosis.

Diaz-Gallo LM, Gourh P, Broen J, Simeon C, Fonollosa V, Ortego-Centeno N, Agarwal S, Vonk MC, Coenen M, Riemekasten G, Hunzelmann N, Hesselstrand R, Tan FK, Reveille JD, Assassi S, García-Hernandez FJ, Carreira P, Camps MT, Fernandez-Nebro A, de la Peña PG, Nearney T, Hilda D, González-Gay MA, Airo P, Beretta L, Scorza R, Herrick A, Worthington J, Pros A, Gómez-Gracia I, Trapiella L, Espinosa G, Castellvi I, Witte T, de Keyser F, Vanthuyne M, Mayes MD, Radstake TR, Arnett FC, Martin J, Rueda B
Ann Rheum Dis.
2011 Mar;
doi: 10.1136/ard.2010.130138
PMID: 21131644

Whole-blood gene expression profiling in ankylosing spondylitis shows upregulation of toll-like receptor 4 and 5.

Assassi S, Reveille JD, Arnett FC, Weisman MH, Ward MM, Agarwal SK, Gourh P, Bhula J, Sharif R, Sampat K, Mayes MD, Tan FK
J Rheumatol.
2011 Jan;
doi: 10.3899/jrheum.100469
PMID: 20952467

Genome-wide association study of systemic sclerosis identifies CD247 as a new susceptibility locus.

Radstake TR, Gorlova O, Rueda B, Martin JE, Alizadeh BZ, Palomino-Morales R, Coenen MJ, Vonk MC, Voskuyl AE, Schuerwegh AJ, Broen JC, van Riel PL, van 't Slot R, Italiaander A, Ophoff RA, Riemekasten G, Hunzelmann N, Simeon CP, Ortego-Centeno N, González-Gay MA, González-Escribano MF, Spanish Scleroderma Group, Airo P, van Laar J, Herrick A, Worthington J, Hesselstrand R, Smith V, de Keyser F, Houssiau F, Chee MM, Madhok R, Shiels P, Westhovens R, Kreuter A, Kiener H, de Baere E, Witte T, Padykov L, Klareskog L, Beretta L, Scorza R, Lie BA, Hoffmann-Vold AM, Carreira P, Varga J, Hinchcliff M, Gregersen PK, Lee AT, Ying J, Han Y, Weng SF, Amos CI, Wigley FM, Hummers L, Nelson JL, Agarwal SK, Assassi S, Gourh P, Tan FK, Koeleman BP, Arnett FC, Martin J, Mayes MD
Nat Genet.
2010 May;
doi: 10.1038/ng.565
PMID: 20383147

Systemic sclerosis and lupus: points in an interferon-mediated continuum.

Assassi S, Mayes MD, Arnett FC, Gourh P, Agarwal SK, McNearney TA, Chaussabel D, Oommen N, Fischbach M, Shah KR, Charles J, Pascual V, Reveille JD, Tan FK
Arthritis Rheum.
2010 Feb;
doi: 10.1002/art.27224
PMID: 20112391

The FAS -670A>G polymorphism influences susceptibility to systemic sclerosis phenotypes.

Broen J, Gourh P, Rueda B, Coenen M, Mayes M, Martin J, Arnett FC, Radstake TR, European Consortium on Systemic Sclerosis Genetics
Arthritis Rheum.
2009 Dec;
doi: 10.1002/art.24964
PMID: 19950259

Polymorphisms in TBX21 and STAT4 increase the risk of systemic sclerosis: evidence of possible gene-gene interaction and alterations in Th1/Th2 cytokines.

Gourh P, Agarwal SK, Divecha D, Assassi S, Paz G, Arora-Singh RK, Reveille JD, Shete S, Mayes MD, Arnett FC, Tan FK
Arthritis Rheum.
2009 Dec;
doi: 10.1002/art.24958
PMID: 19950257

Association of interleukin 23 receptor polymorphisms with anti-topoisomerase-I positivity and pulmonary hypertension in systemic sclerosis.

Agarwal SK, Gourh P, Shete S, Paz G, Divecha D, Reveille JD, Assassi S, Tan FK, Mayes MD, Arnett FC
J Rheumatol.
2009 Dec;
doi: 10.3899/jrheum.090421
PMID: 19918037

BANK1 functional variants are associated with susceptibility to diffuse systemic sclerosis in Caucasians.

Rueda B, Gourh P, Broen J, Agarwal SK, Simeon C, Ortego-Centeno N, Vonk MC, Coenen M, Riemekasten G, Hunzelmann N, Hesselstrand R, Tan FK, Reveille JD, Assassi S, Garcia-Hernandez FJ, Carreira P, Camps M, Fernandez-Nebro A, Garcia de la Peña P, Nearney T, Hilda D, Gónzalez-Gay MA, Airo P, Beretta L, Scorza R, Radstake TR, Mayes MD, Arnett FC, Martin J
Ann Rheum Dis.
2010 Apr;
doi: 10.1136/ard.2009.118174
PMID: 19815934

Plasma cytokine profiles in systemic sclerosis: associations with autoantibody subsets and clinical manifestations.

Gourh P, Arnett FC, Assassi S, Tan FK, Huang M, Diekman L, Mayes MD, Reveille JD, Agarwal SK
Arthritis Res Ther.
doi: 10.1186/ar2821
PMID: 19799786

Association of the C8orf13-BLK region with systemic sclerosis in North-American and European populations.

Gourh P, Agarwal SK, Martin E, Divecha D, Rueda B, Bunting H, Assassi S, Paz G, Shete S, McNearney T, Draeger H, Reveille JD, Radstake TR, Simeon CP, Rodriguez L, Vicente E, Gonzalez-Gay MA, Mayes MD, Tan FK, Martin J, Arnett FC
J Autoimmun.
2010 Mar;
doi: 10.1016/j.jaut.2009.08.014
PMID: 19796918

Clinical and genetic factors predictive of mortality in early systemic sclerosis.

Assassi S, Del Junco D, Sutter K, McNearney TA, Reveille JD, Karnavas A, Gourh P, Estrada-Y-Martin RM, Fischbach M, Arnett FC, Mayes MD
Arthritis Rheum.
2009 Oct 15;
doi: 10.1002/art.24734
PMID: 19790132

Association of TNFSF4 (OX40L) polymorphisms with susceptibility to systemic sclerosis.

Gourh P, Arnett FC, Tan FK, Assassi S, Divecha D, Paz G, McNearney T, Draeger H, Reveille JD, Mayes MD, Agarwal SK
Ann Rheum Dis.
2010 Mar;
doi: 10.1136/ard.2009.116434
PMID: 19778912

Primary biliary cirrhosis (PBC), PBC autoantibodies, and hepatic parameter abnormalities in a large population of systemic sclerosis patients.

Assassi S, Fritzler MJ, Arnett FC, Norman GL, Shah KR, Gourh P, Manek N, Perry M, Ganesh D, Rahbar MH, Mayes MD
J Rheumatol.
2009 Oct;
doi: 10.3899/jrheum.090340
PMID: 19723904

Major histocompatibility complex (MHC) class II alleles, haplotypes and epitopes which confer susceptibility or protection in systemic sclerosis: analyses in 1300 Caucasian, African-American and Hispanic cases and 1000 controls.

Arnett FC, Gourh P, Shete S, Ahn CW, Honey RE, Agarwal SK, Tan FK, McNearney T, Fischbach M, Fritzler MJ, Mayes MD, Reveille JD
Ann Rheum Dis.
2010 May;
doi: 10.1136/ard.2009.111906
PMID: 19596691

CTGF polymorphism associated with systemic sclerosis.

Gourh P, Mayes MD, Arnett FC
N Engl J Med.
2008 Jan 17;

Clinical, immunologic, and genetic features of familial systemic sclerosis.

Assassi S, Arnett FC, Reveille JD, Gourh P, Mayes MD
Arthritis Rheum.
2007 Jun;

An allograft inflammatory factor 1 (AIF1) single nucleotide polymorphism (SNP) is associated with anticentromere antibody positive systemic sclerosis.

Alkassab F, Gourh P, Tan FK, McNearney T, Fischbach M, Ahn C, Arnett FC, Mayes MD
Rheumatology (Oxford).
2007 Aug;

Association of the PTPN22 R620W polymorphism with anti-topoisomerase I- and anticentromere antibody-positive systemic sclerosis.

Gourh P, Tan FK, Assassi S, Ahn CW, McNearney TA, Fischbach M, Arnett FC, Mayes MD
Arthritis Rheum.
2006 Dec;

Signatures of differentially regulated interferon gene expression and vasculotrophism in the peripheral blood cells of systemic sclerosis patients.

Tan FK, Zhou X, Mayes MD, Gourh P, Guo X, Marcum C, Jin L, Arnett FC Jr
Rheumatology (Oxford).
2006 Jun;

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