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1. Author Correction: Genome-wide association study identifies Sjögren’s risk loci with functional implications in immune and glandular cells

Author

Khatri, Bhuwan, Tessneer, Kandice L., Rasmussen, Astrid, Aghakhanian, Farhang, Reksten, Tove Ragna, Adler, Adam, Alevizos, Ilias, Anaya, Juan-Manuel, Aqrawi, Lara A., Baecklund, Eva, Brun, Johan G., Bucher, Sara Magnusson, Eloranta, Maija-Leena, Engelke, Fiona, Forsblad-d’Elia, Helena, Glenn, Stuart B., Hammenfors, Daniel, Imgenberg-Kreuz, Juliana, Jensen, Janicke Liaaen, Johnsen, Svein Joar Auglænd, Jonsson, Malin V., Kvarnström, Marika, Kelly, Jennifer A., Li, He, Mandl, Thomas, Martín, Javier, Nocturne, Gaétane, Norheim, Katrine Brække, Palm, Øyvind, Skarstein, Kathrine, Stolarczyk, Anna M., Taylor, Kimberly E., Teruel, Maria, Theander, Elke, Venuturupalli, Swamy, Wallace, Daniel J., Grundahl, Kiely M., Hefner, Kimberly S., Radfar, Lida, Lewis, David M., Stone, Donald U., Kaufman, C. Erick, Brennan, Michael T., Guthridge, Joel M., James, Judith A., Scofield, R. Hal, Gaffney, Patrick M., Criswell, Lindsey A., Jonsson, Roland, Eriksson, Per, Bowman, Simon J., Omdal, Roald, Rönnblom, Lars, Warner, Blake, Rischmueller, Maureen, Witte, Torsten, Farris, A. Darise, Mariette, Xavier, Alarcon-Riquelme, Marta E., Shiboski, Caroline H., Wahren-Herlenius, Marie, Ng, Wan-Fai, Sivils, Kathy L., Adrianto, Indra, Nordmark, Gunnel, and Lessard, Christopher J.

Published
2023
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3. Author Correction: Genome-wide association study identifies Sjögren’s risk loci with functional implications in immune and glandular cells

Author

Khatri, Bhuwan, Tessneer, Kandice L., Rasmussen, Astrid, Aghakhanian, Farhang, Reksten, Tove Ragna, Adler, Adam, Alevizos, Ilias, Anaya, Juan-Manuel, Aqrawi, Lara A., Baecklund, Eva, Brun, Johan G., Bucher, Sara Magnusson, Eloranta, Maija-Leena, Engelke, Fiona, Forsblad-d’Elia, Helena, Glenn, Stuart B., Hammenfors, Daniel, Imgenberg-Kreuz, Juliana, Jensen, Janicke Liaaen, Johnsen, Svein Joar Auglænd, Jonsson, Malin V., Kvarnström, Marika, Kelly, Jennifer A., Li, He, Mandl, Thomas, Martín, Javier, Nocturne, Gaétane, Norheim, Katrine Brække, Palm, Øyvind, Skarstein, Kathrine, Stolarczyk, Anna M., Taylor, Kimberly E., Teruel, Maria, Theander, Elke, Venuturupalli, Swamy, Wallace, Daniel J., Grundahl, Kiely M., Hefner, Kimberly S., Radfar, Lida, Lewis, David M., Stone, Donald U., Kaufman, C. Erick, Brennan, Michael T., Guthridge, Joel M., James, Judith A., Scofield, R. Hal, Gaffney, Patrick M., Criswell, Lindsey A., Jonsson, Roland, Eriksson, Per, Bowman, Simon J., Omdal, Roald, Rönnblom, Lars, Warner, Blake, Rischmueller, Maureen, Witte, Torsten, Farris, A. Darise, Mariette, Xavier, Alarcon-Riquelme, Marta E., Shiboski, Caroline H., Wahren-Herlenius, Marie, Ng, Wan-Fai, Sivils, Kathy L., Adrianto, Indra, Nordmark, Gunnel, and Lessard, Christopher J.

Published
2022
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4. Genome-wide association study identifies Sjögren’s risk loci with functional implications in immune and glandular cells

Author

Khatri, Bhuwan, Tessneer, Kandice L., Rasmussen, Astrid, Aghakhanian, Farhang, Reksten, Tove Ragna, Adler, Adam, Alevizos, Ilias, Anaya, Juan-Manuel, Aqrawi, Lara A., Baecklund, Eva, Brun, Johan G., Bucher, Sara Magnusson, Eloranta, Maija-Leena, Engelke, Fiona, Forsblad-d’Elia, Helena, Glenn, Stuart B., Hammenfors, Daniel, Imgenberg-Kreuz, Juliana, Jensen, Janicke Liaaen, Johnsen, Svein Joar Auglænd, Jonsson, Malin V., Kvarnström, Marika, Kelly, Jennifer A., Li, He, Mandl, Thomas, Martín, Javier, Nocturne, Gaétane, Norheim, Katrine Brække, Palm, Øyvind, Skarstein, Kathrine, Stolarczyk, Anna M., Taylor, Kimberly E., Teruel, Maria, Theander, Elke, Venuturupalli, Swamy, Wallace, Daniel J., Grundahl, Kiely M., Hefner, Kimberly S., Radfar, Lida, Lewis, David M., Stone, Donald U., Kaufman, C. Erick, Brennan, Michael T., Guthridge, Joel M., James, Judith A., Scofield, R. Hal, Gaffney, Patrick M., Criswell, Lindsey A., Jonsson, Roland, Eriksson, Per, Bowman, Simon J., Omdal, Roald, Rönnblom, Lars, Warner, Blake, Rischmueller, Maureen, Witte, Torsten, Farris, A. Darise, Mariette, Xavier, Alarcon-Riquelme, Marta E., Shiboski, Caroline H., Wahren-Herlenius, Marie, Ng, Wan-Fai, Sivils, Kathy L., Adrianto, Indra, Nordmark, Gunnel, and Lessard, Christopher J.

Published
2022
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5. A missense variant in NCF1 is associated with susceptibility to multiple autoimmune diseases

Author

Zhao, Jian, Ma, Jianyang, Deng, Yun, Kelly, Jennifer A, Kim, Kwangwoo, Bang, So-Young, Lee, Hye-Soon, Li, Quan-Zhen, Wakeland, Edward K, Qiu, Rong, Liu, Mengru, Guo, Jianping, Li, Zhanguo, Tan, Wenfeng, Rasmussen, Astrid, Lessard, Christopher J, Sivils, Kathy L, Hahn, Bevra H, Grossman, Jennifer M, Kamen, Diane L, Gilkeson, Gary S, Bae, Sang-Cheol, Gaffney, Patrick M, Shen, Nan, and Tsao, Betty P

Subjects
Biological Sciences, Genetics, Autoimmune Disease, Aetiology, 2.1 Biological and endogenous factors, Black or African American, Asian People, Autoimmune Diseases, Case-Control Studies, Female, Genetic Predisposition to Disease, Humans, Lupus Erythematosus, Systemic, Male, NADPH Oxidases, Polymorphism, Single Nucleotide, Reactive Oxygen Species, Sjogren's Syndrome, White People, Medical and Health Sciences, Developmental Biology, Agricultural biotechnology, Bioinformatics and computational biology
Abstract

Systemic lupus erythematosus (SLE) is a heterogeneous autoimmune disease with a strong genetic component characterized by autoantibody production and a type I interferon signature. Here we report a missense variant (g.74779296G>A; p.Arg90His) in NCF1, encoding the p47phox subunit of the phagocyte NADPH oxidase (NOX2), as the putative underlying causal variant that drives a strong SLE-associated signal detected by the Immunochip in the GTF2IRD1-GTF2I region at 7q11.23 with a complex genomic structure. We show that the p.Arg90His substitution, which is reported to cause reduced reactive oxygen species (ROS) production, predisposes to SLE (odds ratio (OR) = 3.47 in Asians (Pmeta = 3.1 × 10-104), OR = 2.61 in European Americans, OR = 2.02 in African Americans) and other autoimmune diseases, including primary Sjögren's syndrome (OR = 2.45 in Chinese, OR = 2.35 in European Americans) and rheumatoid arthritis (OR = 1.65 in Koreans). Additionally, decreased and increased copy numbers of NCF1 predispose to and protect against SLE, respectively. Our data highlight the pathogenic role of reduced NOX2-derived ROS levels in autoimmune diseases.

Published
2017

6. The IRF5–TNPO3 association with systemic lupus erythematosus has two components that other autoimmune disorders variably share

Author

Kottyan, Leah C, Zoller, Erin E, Bene, Jessica, Lu, Xiaoming, Kelly, Jennifer A, Rupert, Andrew M, Lessard, Christopher J, Vaughn, Samuel E, Marion, Miranda, Weirauch, Matthew T, Namjou, Bahram, Adler, Adam, Rasmussen, Astrid, Glenn, Stuart, Montgomery, Courtney G, Hirschfield, Gideon M, Xie, Gang, Coltescu, Catalina, Amos, Chris, Li, He, Ice, John A, Nath, Swapan K, Mariette, Xavier, Bowman, Simon, Rischmueller, Maureen, Lester, Sue, Brun, Johan G, Gøransson, Lasse G, Harboe, Erna, Omdal, Roald, Cunninghame-Graham, Deborah S, Vyse, Tim, Miceli-Richard, Corinne, Brennan, Michael T, Lessard, James A, Wahren-Herlenius, Marie, Kvarnström, Marika, Illei, Gabor G, Witte, Torsten, Jonsson, Roland, Eriksson, Per, Nordmark, Gunnel, Ng, Wan-Fai, Anaya, Juan-Manuel, Rhodus, Nelson L, Segal, Barbara M, Merrill, Joan T, James, Judith A, Guthridge, Joel M, Scofield, R Hal, Alarcon-Riquelme, Marta, Bae, Sang-Cheol, Boackle, Susan A, Criswell, Lindsey A, Gilkeson, Gary, Kamen, Diane L, Jacob, Chaim O, Kimberly, Robert, Brown, Elizabeth, Edberg, Jeffrey, Alarcón, Graciela S, Reveille, John D, Vilá, Luis M, Petri, Michelle, Ramsey-Goldman, Rosalind, Freedman, Barry I, Niewold, Timothy, Stevens, Anne M, Tsao, Betty P, Ying, Jun, Mayes, Maureen D, Gorlova, Olga Y, Wakeland, Ward, Radstake, Timothy, Martin, Ezequiel, Martin, Javier, Siminovitch, Katherine, Sivils, Kathy L Moser, Gaffney, Patrick M, Langefeld, Carl D, Harley, John B, and Kaufman, Kenneth M

Subjects
Biological Sciences, Genetics, Autoimmune Disease, Biotechnology, Lupus, Aetiology, 2.1 Biological and endogenous factors, Inflammatory and immune system, Autoimmune Diseases, Bayes Theorem, Case-Control Studies, Cohort Studies, DNA-Binding Proteins, Haplotypes, Humans, Interferon Regulatory Factors, Lupus Erythematosus, Systemic, Male, Polymorphism, Single Nucleotide, Promoter Regions, Genetic, beta Karyopherins, UK Primary Sjögren's Syndrome Registry, Medical and Health Sciences, Genetics & Heredity
Abstract

Exploiting genotyping, DNA sequencing, imputation and trans-ancestral mapping, we used Bayesian and frequentist approaches to model the IRF5-TNPO3 locus association, now implicated in two immunotherapies and seven autoimmune diseases. Specifically, in systemic lupus erythematosus (SLE), we resolved separate associations in the IRF5 promoter (all ancestries) and with an extended European haplotype. We captured 3230 IRF5-TNPO3 high-quality, common variants across 5 ethnicities in 8395 SLE cases and 7367 controls. The genetic effect from the IRF5 promoter can be explained by any one of four variants in 5.7 kb (P-valuemeta = 6 × 10(-49); OR = 1.38-1.97). The second genetic effect spanned an 85.5-kb, 24-variant haplotype that included the genes IRF5 and TNPO3 (P-valuesEU = 10(-27)-10(-32), OR = 1.7-1.81). Many variants at the IRF5 locus with previously assigned biological function are not members of either final credible set of potential causal variants identified herein. In addition to the known biologically functional variants, we demonstrated that the risk allele of rs4728142, a variant in the promoter among the lowest frequentist probability and highest Bayesian posterior probability, was correlated with IRF5 expression and differentially binds the transcription factor ZBTB3. Our analytical strategy provides a novel framework for future studies aimed at dissecting etiological genetic effects. Finally, both SLE elements of the statistical model appear to operate in Sjögren's syndrome and systemic sclerosis whereas only the IRF5-TNPO3 gene-spanning haplotype is associated with primary biliary cirrhosis, demonstrating the nuance of similarity and difference in autoimmune disease risk mechanisms at IRF5-TNPO3.

Published
2015

8. Contributors

Author

Ahearn, Joseph M., primary, Alarcón-Riquelme, Marta E., additional, Almaani, Salem J., additional, Anolik, Jennifer H., additional, Aranow, Cynthia, additional, Bacalao, Maria A., additional, Barilla-LaBarca, Maria-Louise, additional, Barnas, Jennifer L., additional, Barturen, Guillermo, additional, Bermas, Bonnie L., additional, Bernatsky, Sasha, additional, Bruce, I.N., additional, Bucala, Richard, additional, Buyon, Jill P., additional, Carnero-Montoro, Elena, additional, Clarke, Ann E., additional, Clowse, Megan E.B., additional, Concha, Josef Symon S., additional, Dellaripa, Paul, additional, Diamond, Betty, additional, Doyle, Tracy J., additional, Fernando, Michelle M.A., additional, Fisk, John D., additional, Furie, Richard, additional, Gordon, Caroline, additional, Greiling, Teri M., additional, Han, Shuhong, additional, Hanly, John G., additional, Hile, Grace A., additional, Horowitz, Diane, additional, Isenberg, David, additional, Izmirly, Peter, additional, Jacobs, Barbara, additional, James, Judith A., additional, Kahlenberg, J. Michelle, additional, Kalunian, Kenneth C., additional, Kang, Insoo, additional, Kaplan, Mariana J., additional, Khamashta, Munther A., additional, Kim, Mimi, additional, Knight, Jason S., additional, Koumpouras, Fotios, additional, Kriegel, Martin A., additional, La Cava, Antonio, additional, Ladouceur, Alexandra, additional, Lahita, Robert G., additional, Lee, Iris Jung-Won, additional, Lessard, Christopher J., additional, Lewandowski, Laura B., additional, Liang, Yun, additional, Liu, Chau-Ching, additional, Mackay, Meggan, additional, Madaio, Michael P., additional, Marder, Galina, additional, Matteson, Eric L., additional, McCoy, Sara, additional, McMahon, Maureen, additional, Meffre, Eric, additional, Mejia-Vilet, Juan, additional, Merrill, Joan, additional, Morand, Eric F., additional, Moreira Pinto, Sara, additional, Nakabo, Shuichiro, additional, Northcott, Melissa, additional, Omisade, Antonina, additional, Ortel, Thomas L., additional, Perl, Andras, additional, Ramsey-Goldman, Rosalind, additional, Reeves, Westley H., additional, Reyes-Thomas, Joyce, additional, Reynolds, J.A., additional, Richardson, Bruce, additional, Rodriguez, Juan Vicente, additional, Rovin, Brad H., additional, Rudinskaya, Alla, additional, Ruiz-Irastorza, Guillermo, additional, Saxena, Amit, additional, Schanberg, Laura E., additional, Sharma, Tarun S., additional, Skaggs, Brian, additional, Somers, Emily C., additional, Stohl, William, additional, Talabi, Mehret Birru, additional, Tessneer, Kandice L., additional, Tsao, Betty P., additional, Ugarte, Amaia, additional, Volpe, Bruce T., additional, Vyse, Timothy J., additional, Wainwright, Benjamin J., additional, Ward, Michael M., additional, Wasko, Mary Chester M., additional, Werth, Victoria P., additional, Wise, Leanna, additional, Zhuang, Haoyang, additional, and Zuo, Yu, additional

Published
2021
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9. Two Functional Lupus-Associated BLK Promoter Variants Control Cell-Type- and Developmental-Stage-Specific Transcription

Author

Guthridge, Joel M, Lu, Rufei, Sun, Harry, Sun, Celi, Wiley, Graham B, Dominguez, Nicolas, Macwana, Susan R, Lessard, Christopher J, Kim-Howard, Xana, Cobb, Beth L, Kaufman, Kenneth M, Kelly, Jennifer A, Langefeld, Carl D, Adler, Adam J, Harley, Isaac TW, Merrill, Joan T, Gilkeson, Gary S, Kamen, Diane L, Niewold, Timothy B, Brown, Elizabeth E, Edberg, Jeffery C, Petri, Michelle A, Ramsey-Goldman, Rosalind, Reveille, John D, Vilá, Luis M, Kimberly, Robert P, Freedman, Barry I, Stevens, Anne M, Boackle, Susan A, Criswell, Lindsey A, Vyse, Tim J, Behrens, Timothy W, Jacob, Chaim O, Alarcón-Riquelme, Marta E, Sivils, Kathy L, Choi, Jiyoung, Bin Joo, Young, Bang, So-Young, Lee, Hye-Soon, Bae, Sang-Cheol, Shen, Nan, Qian, Xiaoxia, Tsao, Betty P, Scofield, R Hal, Harley, John B, Webb, Carol F, Wakeland, Edward K, James, Judith A, Nath, Swapan K, Graham, Robert R, and Gaffney, Patrick M

Subjects
Biological Sciences, Biomedical and Clinical Sciences, Genetics, Lupus, Autoimmune Disease, Clinical Research, Stem Cell Research, Aetiology, 2.1 Biological and endogenous factors, Inflammatory and immune system, Alleles, Chromosomes, Human, Pair 8, Electrophoretic Mobility Shift Assay, Female, Genetic Predisposition to Disease, Haplotypes, Humans, Lupus Erythematosus, Systemic, Male, Polymorphism, Single Nucleotide, Promoter Regions, Genetic, Transcription, Genetic, src-Family Kinases, Medical and Health Sciences, Genetics & Heredity, Biological sciences, Biomedical and clinical sciences, Health sciences
Abstract

Efforts to identify lupus-associated causal variants in the FAM167A/BLK locus on 8p21 are hampered by highly associated noncausal variants. In this report, we used a trans-population mapping and sequencing strategy to identify a common variant (rs922483) in the proximal BLK promoter and a tri-allelic variant (rs1382568) in the upstream alternative BLK promoter as putative causal variants for association with systemic lupus erythematosus. The risk allele (T) at rs922483 reduced proximal promoter activity and modulated alternative promoter usage. Allelic differences at rs1382568 resulted in altered promoter activity in B progenitor cell lines. Thus, our results demonstrated that both lupus-associated functional variants contribute to the autoimmune disease association by modulating transcription of BLK in B cells and thus potentially altering immune responses.

Published
2014

10. Variants in the DDX6-CXCR5 autoimmune disease risk locus influence the regulatory network in immune cells and salivary gland

Author

Wiley, Mandi M, primary, Khatri, Bhuwan, additional, Joachims, Michelle L, additional, Tessneer, Kandice L, additional, Stolarczyk, Anna M, additional, Rasmussen, Astrid, additional, Anaya, Juan-Manuel, additional, Aqrawi, Lara A, additional, Bae, Sang-Cheol, additional, Baecklund, Eva, additional, Bjork, Albin, additional, Brun, Johan G, additional, Bucher, Sara Magnusson, additional, Dand, Nick, additional, Eloranta, Maija-Leena, additional, Engelke, Fiona, additional, Forsblad-d'Elia, Helena, additional, Fugmann, Cecilia, additional, Glenn, Stuart B, additional, Gong, Chen, additional, Gottenberg, Jacques-Eric, additional, Hammenfors, Daniel, additional, Imgenberg-Kreuz, Juliana, additional, Jensen, Janicke Liaaen, additional, Johnsen, Svein Joar Auglaend, additional, Jonsson, Malin V, additional, Kelly, Jennifer A, additional, Khanam, Sharmily, additional, Kim, Kwangwoo, additional, Kvarnstrom, Marika, additional, Mandl, Thomas, additional, Martin, Javier, additional, Morris, David L, additional, Nocturne, Gaetane, additional, Norheim, Katrine Braekke, additional, Olsson, Peter, additional, Palm, Oyvind, additional, Pers, Jacques-Olivier, additional, Rhodus, Nelson L, additional, Sjowall, Christopher, additional, Skarstein, Kathrine, additional, Taylor, Kimberly E, additional, Tombleson, Phil, additional, Thorlacius, Gudny Ella, additional, Venuturupalli, Swamy, additional, Vital, Edward M, additional, Wallace, Daniel J., additional, Grundahl, Kiely M, additional, Radfar, Lida, additional, Brennan, Michael T, additional, James, Judith A, additional, Scofield, R. Hal, additional, Gaffney, Patrick M, additional, Criswell, Lindsey A, additional, Jonsson, Roland, additional, Appel, Silke, additional, Eriksson, Per, additional, Bowman, Simon J, additional, Omdal, Roald, additional, Ronnblom, Lars, additional, Warner, Blake M., additional, Rischmueller, Maureen, additional, Witte, Torsten, additional, Farris, A. Darise, additional, Mariette, Xavier, additional, Shiboski, Caroline H, additional, Wahren-Herlenius, Marie, additional, Alarcon-Riquelme, Marta E, additional, Ng, Wan-Fai, additional, Sivils, Kathy L., additional, Guthridge, Joel M, additional, Adrianto, Indra, additional, Vyse, Timothy J, additional, Tsao, Betty P, additional, Nordmark, Gunnel, additional, and Lessard, Christopher J, additional

Published
2023
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11. NCR3/NKp30 Contributes to Pathogenesis in Primary Sjögren’s Syndrome

Author

Rusakiewicz, Sylvie, Nocturne, Gaetane, Lazure, Thierry, Semeraro, Michaela, Flament, Caroline, Caillat-Zucman, Sophie, Sène, Damien, Delahaye, Nicolas, Vivier, Eric, Chaba, Kariman, Poirier-Colame, Vichnou, Nordmark, Gunnel, Eloranta, Maija-Leena, Eriksson, Per, Theander, Elke, Forsblad-d’Elia, Helena, Omdal, Roald, Wahren-Herlenius, Marie, Jonsson, Roland, Rönnblom, Lars, Nititham, Joanne, Taylor, Kimberly E, Lessard, Christopher J, Sivils, Kathy L Moser, Gottenberg, Jacques-Eric, Criswell, Lindsey A, Miceli-Richard, Corinne, Zitvogel, Laurence, and Mariette, Xavier

Subjects
Autoimmune Disease, Rare Diseases, Genetics, Clinical Research, Digestive Diseases, Aetiology, 2.1 Biological and endogenous factors, Inflammatory and immune system, Adult, Aged, Cell Line, Cells, Cultured, Female, Genotype, Humans, Interferon-gamma, Male, Middle Aged, Natural Cytotoxicity Triggering Receptor 3, Polymorphism, Genetic, Reverse Transcriptase Polymerase Chain Reaction, Sjogren's Syndrome, Biological Sciences, Medical and Health Sciences
Abstract

Primary Sjögren's syndrome (pSS) is a chronic autoimmune disease characterized by a lymphocytic exocrinopathy. However, patients often have evidence of systemic autoimmunity, and they are at markedly increased risk for the development of non- Hodgkin's lymphoma. Similar to other autoimmune disorders, a strong interferon (IFN) signature is present among subsets of pSS patients, although the precise etiology remains uncertain. NCR3/NKp30 is a natural killer (NK)-specific activating receptor regulating the cross talk between NK and dendritic cells and type II IFN secretion. We performed a case-control study of genetic polymorphisms of the NCR3/NKp30 gene and found that rs11575837 (G>A) residing in the promoter was associated with reduced gene transcription and function as well as protection to pSS. We also demonstrated that circulating levels of NCR3/NKp30 were significantly increased among pSS patients compared with controls and correlated with higher NCR3/NKp30 but not CD16-dependent IFN-γ secretion by NK cells. Excess accumulation of NK cells in minor salivary glands correlated with the severity of the exocrinopathy. B7H6, the ligand of NKp30, was expressed by salivary epithelial cells. These findings suggest that NK cells may promote an NKp30-dependent inflammatory state in salivary glands and that blockade of the B7H6/NKp30 axis could be clinically relevant in pSS.

Published
2013

12. Association of two independent functional risk haplotypes in TNIP1 with systemic lupus erythematosus

Author

Adrianto, Indra, Wang, Shaofeng, Wiley, Graham B, Lessard, Christopher J, Kelly, Jennifer A, Adler, Adam J, Glenn, Stuart B, Williams, Adrienne H, Ziegler, Julie T, Comeau, Mary E, Marion, Miranda C, Wakeland, Benjamin E, Liang, Chaoying, Kaufman, Kenneth M, Guthridge, Joel M, Alarcón‐Riquelme, Marta E, Networks, BIOLUPUS and GENLES, Alarcón, Graciela S, Anaya, Juan‐Manuel, Bae, Sang‐Cheol, Kim, Jae‐Hoon, Bin Joo, Young, Boackle, Susan A, Brown, Elizabeth E, Petri, Michelle A, Ramsey‐Goldman, Rosalind, Reveille, John D, Vilá, Luis M, Criswell, Lindsey A, Edberg, Jeffrey C, Freedman, Barry I, Gilkeson, Gary S, Jacob, Chaim O, James, Judith A, Kamen, Diane L, Kimberly, Robert P, Martín, Javier, Merrill, Joan T, Niewold, Timothy B, Pons‐Estel, Bernardo A, Scofield, R Hal, Stevens, Anne M, Tsao, Betty P, Vyse, Timothy J, Langefeld, Carl D, Harley, John B, Wakeland, Edward K, Moser, Kathy L, Montgomery, Courtney G, and Gaffney, Patrick M

Subjects
Biological Sciences, Biomedical and Clinical Sciences, Genetics, Lupus, Clinical Research, Autoimmune Disease, Human Genome, Minority Health, Biotechnology, 2.1 Biological and endogenous factors, Inflammatory and immune system, Adaptor Proteins, Signal Transducing, Black or African American, Asian, B-Lymphocytes, Cell Line, Transformed, DNA-Binding Proteins, Female, Genetic Markers, Genetic Predisposition to Disease, Haplotypes, Hispanic or Latino, Humans, Intracellular Signaling Peptides and Proteins, Lupus Erythematosus, Systemic, Male, Neoplasm Proteins, Polymorphism, Single Nucleotide, Risk Factors, United States, White People, BIOLUPUS and GENLES Networks, Clinical Sciences, Immunology, Public Health and Health Services, Arthritis & Rheumatology, Clinical sciences
Abstract

ObjectiveSystemic lupus erythematosus (SLE) is an autoimmune disease characterized by autoantibody production and altered type I interferon expression. Genetic surveys and genome-wide association studies have identified >30 SLE susceptibility genes. One of these genes, TNIP1, encodes the ABIN1 protein. ABIN1 functions in the immune system by restricting NF-κB signaling. The present study was undertaken to investigate the genetic factors that influence association with SLE in genes that regulate the NF-κB pathway.MethodsWe analyzed a dense set of genetic markers spanning TNIP1 and TAX1BP1, as well as the TNIP1 homolog TNIP2, in case-control populations of diverse ethnic origins. TNIP1, TNIP2, and TAX1BP1 were fine-mapped in a total of 8,372 SLE cases and 7,492 healthy controls from European-ancestry, African American, Hispanic, East Asian, and African American Gullah populations. Levels of TNIP1 messenger RNA (mRNA) and ABIN1 protein in Epstein-Barr virus-transformed human B cell lines were analyzed by quantitative reverse transcription-polymerase chain reaction and Western blotting, respectively.ResultsWe found significant associations between SLE and genetic variants within TNIP1, but not in TNIP2 or TAX1BP1. After resequencing and imputation, we identified 2 independent risk haplotypes within TNIP1 in individuals of European ancestry that were also present in African American and Hispanic populations. Levels of TNIP1 mRNA and ABIN1 protein were reduced among subjects with these haplotypes, suggesting that they harbor hypomorphic functional variants that influence susceptibility to SLE by restricting ABIN1 expression.ConclusionOur results confirm the association signals between SLE and TNIP1 variants in multiple populations and provide new insight into the mechanism by which TNIP1 variants may contribute to SLE pathogenesis.

Published
2012

15. Autoantibodies identify primary Sjögren’s syndrome in patients lacking serum IgG specific for Ro/SS-A and La/SS-B

Author

Longobardi, Sherri, primary, Lopez-Davis, Charmaine, additional, Khatri, Bhuwan, additional, Georgescu, Constantin, additional, Pritchett-Frazee, Cherilyn, additional, Lawrence, Christina, additional, Rasmussen, Astrid, additional, Radfar, Lida, additional, Scofield, Robert Hal, additional, Baer, Alan N, additional, Robinson, Susan A, additional, Darrah, Erika, additional, Axtell, Robert C, additional, Pardo, Gabriel, additional, Wren, Jonathan D, additional, Koelsch, Kristi A, additional, Guthridge, Joel M, additional, James, Judith A, additional, Lessard, Christopher J, additional, and Farris, Amy Darise, additional

Published
2023
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16. Klinefelter's syndrome (47,XXY) is in excess among men with Sjögren's syndrome

Author

Harris, Valerie M., Sharma, Rohan, Cavett, Joshua, Kurien, Biji T., Liu, Ke, Koelsch, Kristi A., Rasmussen, Astrid, Radfar, Lida, Lewis, David, Stone, Donald U., Kaufman, C. Erick, Li, Shibo, Segal, Barbara, Wallace, Daniel J., Weisman, Michael H., Venuturupalli, Swamy, Kelly, Jennifer A., Alarcon-Riquelme, Marta E., Pons-Estel, Bernardo, Jonsson, Roland, Lu, Xianglan, Gottenberg, Jacques-Eric, Anaya, Juan-Manuel, Cunninghame-Graham, Deborah S., Huang, Andrew J.W., Brennan, Michael T., Hughes, Pamela, Alevizos, Ilias, Miceli-Richard, Corinne, Keystone, Edward C., Bykerk, Vivian P., Hirschfield, Gideon, Xie, Gang, Ng, Wan-Fai, Nordmark, Gunnel, Bucher, Sara Magnusson, Eriksson, Per, Omdal, Roald, Rhodus, Nelson L., Rischmueller, Maureen, Rohrer, Michael, Wahren-Herlenius, Marie, Witte, Torsten, Mariette, Xavier, Lessard, Christopher J., Harley, John B., Sivils, Kathy L., and Scofield, R. Hal

Published
2016
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20. Dysregulated long non-coding RNA in Sjögren’s disease impacts both interferon and adaptive immune responses

Author

Joachims, Michelle L, primary, Khatri, Bhuwan, additional, Li, Chuang, additional, Tessneer, Kandice L, additional, Ice, John A, additional, Stolarczyk, Anna M, additional, Means, Nicolas, additional, Grundahl, Kiely M, additional, Glenn, Stuart B, additional, Kelly, Jennifer A, additional, Lewis, David M, additional, Radfar, Lida, additional, Stone, Donald U, additional, Guthridge, Joel M, additional, James, Judith A, additional, Scofield, R Hal, additional, Wiley, Graham B, additional, Wren, Jonathan D, additional, Gaffney, Patrick M, additional, Montgomery, Courtney G, additional, Sivils, Kathy L, additional, Rasmussen, Astrid, additional, Farris, A Darise, additional, Adrianto, Indra, additional, and Lessard, Christopher J, additional

Published
2022
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21. Germline and somatic genetic variations of TNFAIP3 in lymphoma complicating primary Sjögren's syndrome

Author

Nocturne, Gaetane, Boudaoud, Saida, Miceli-Richard, Corinne, Viengchareun, Say, Lazure, Thierry, Nititham, Joanne, Taylor, Kimberly E., Ma, Averil, Busato, Florence, Melki, Judith, Lessard, Christopher J., Sivils, Kathy L., Dubost, Jean-Jacques, Hachulla, Eric, Gottenberg, Jacques Eric, Lombès, Marc, Tost, Jorg, Criswell, Lindsey A., and Mariette, Xavier

Published
2013
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22. Variability of Primary Sjögren's Syndrome Is Driven by Interferon α and Interferon α Blood Levels Are Associated With the Class II HLA–DQ Locus

Author

Trutschel, Diana, Bost, Pierre, Mariette, Xavier, Bondet, Vincent, Llibre, Alba, Posseme, Celine, Charbit, Bruno, Thorball, Christian W., Jonsson, Roland, Lessard, Christopher J., Felten, Renaud, Ng, Wan Fai, Chatenoud, Lucienne, Dumortier, Hélène, Sibilia, Jean, Fellay, Jacques, Brokstad, Karl A., Appel, Silke, Tarn, Jessica R., Quintana‐Murci, Lluis, Mingueneau, Michael, Meyer, Nicolas, Duffy, Darragh, Schwikowski, Benno, Gottenberg, Jacques Eric, Dernis, Emmanuelle, Devauchelle‐Pensec, Valerie, Dieude, Philippe, Dubost, Jean‐Jacques, Fauchais, Anne‐Laure, Goeb, Vincent, Hachulla, Eric, Hatron, Pierre Yves, Larroche, Claire, Le Guern, Véronique, Morel, Jacques, Perdriger, Aleth, Salliot, Carinne, Rist, Stephanie, Saraux, Alain, Vittecoq, Olivier, Nocturne, Gaétane, Ravaud, Philippe, Seror, Raphaèle, Abel, Laurent, Alcover, Andres, Aschard, Hugues, Astrom, Kalla, Bousso, Philippe, Bruhns, Pierre, Cumano, Ana, Demangel, Caroline, Deriano, Ludovic, Di Santo, James, Dromer, Françoise, Eberl, Gérard, Enninga, Jost, Gelpi, Odile, GompertsBoneca, Ivo, Hasan, Milena, Hercberg, Serge, Lantz, Olivier, Leclerc, Claude, Mouquet, Hugo, Pellegrini, Sandra, Pol, Stanislas, Rausell, Antonio, Rogge, Lars, Sakuntabhai, Anavaj, Schwartz, Olivier, Shorte, Spencer, Soumelis, Vassili, Tangy, Frédéric, Tartour, Eric, Toubert, Antoine, Touvier, Mathilde, Ungeheuer, Marie‐Noëlle, Albert, Matthew L., Biomédecine computationelle des systèmes / Computational systems biomedicine, Institut Pasteur [Paris] (IP)-Université Paris Cité (UPCité), Universität Zürich [Zürich] = University of Zurich (UZH), Eidgenössische Technische Hochschule - Swiss Federal Institute of Technology [Zürich] (ETH Zürich), Service de Rhumatologie [CHU Bicêtre], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Bicêtre, Immunologie des maladies virales, auto-immunes, hématologiques et bactériennes (IMVA-HB), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris-Saclay, Projet NECESSITY (PN), Hôpitaux Universitaires Paris Sud [AP-HP] (HUPS)-Immunologie des maladies virales, auto-immunes, hématologiques et bactériennes (IMVA-HB), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris-Saclay-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris-Saclay, Immunologie Translationnelle - Translational Immunology lab, Cytometrie et Biomarqueurs – Cytometry and Biomarkers (UTechS CB), Ecole Polytechnique Fédérale de Lausanne (EPFL), Université de Lausanne = University of Lausanne (UNIL), Lausanne University Hospital, University of Bergen (UiB), Oklahoma Medical Research Foundation (OMRF), University of Oklahoma Health Sciences Center (OUHSC), Université de Strasbourg (UNISTRA), Institut de biologie moléculaire et cellulaire (IBMC), Université de Strasbourg (UNISTRA)-Centre National de la Recherche Scientifique (CNRS), Newcastle University [Newcastle], Newcastle Upon Tyne Hospitals NHS Foundation Trust, Institut Necker Enfants-Malades (INEM - UM 111 (UMR 8253 / U1151)), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Paris Cité (UPCité), Immunologie, Immunopathologie et Chimie Thérapeutique (I2CT), Université de Strasbourg (UNISTRA)-Centre National de la Recherche Scientifique (CNRS)-Université de Strasbourg (UNISTRA)-Centre National de la Recherche Scientifique (CNRS)-Université de Strasbourg (UNISTRA)-Centre National de la Recherche Scientifique (CNRS), Génétique Evolutive Humaine - Human Evolutionary Genetics, Institut Pasteur [Paris] (IP)-Centre National de la Recherche Scientifique (CNRS), Biogen Inc. [Cambridge, MA, USA], Laboratoire des sciences de l'ingénieur, de l'informatique et de l'imagerie (ICube), École Nationale du Génie de l'Eau et de l'Environnement de Strasbourg (ENGEES)-Université de Strasbourg (UNISTRA)-Institut National des Sciences Appliquées - Strasbourg (INSA Strasbourg), Institut National des Sciences Appliquées (INSA)-Institut National des Sciences Appliquées (INSA)-Institut National de Recherche en Informatique et en Automatique (Inria)-Les Hôpitaux Universitaires de Strasbourg (HUS)-Centre National de la Recherche Scientifique (CNRS)-Matériaux et Nanosciences Grand-Est (MNGE), Université de Strasbourg (UNISTRA)-Université de Haute-Alsace (UHA) Mulhouse - Colmar (Université de Haute-Alsace (UHA))-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut de Chimie du CNRS (INC)-Centre National de la Recherche Scientifique (CNRS)-Université de Strasbourg (UNISTRA)-Université de Haute-Alsace (UHA) Mulhouse - Colmar (Université de Haute-Alsace (UHA))-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut de Chimie du CNRS (INC)-Centre National de la Recherche Scientifique (CNRS)-Réseau nanophotonique et optique, Université de Strasbourg (UNISTRA)-Université de Haute-Alsace (UHA) Mulhouse - Colmar (Université de Haute-Alsace (UHA))-Centre National de la Recherche Scientifique (CNRS)-Université de Strasbourg (UNISTRA)-Centre National de la Recherche Scientifique (CNRS), Supported by the Innovative Medicines Initiative 2 Joint Undertaking (JU) (grant 806975). The JU receives support from the European Union’s Horizon 2020 research and innovation program and the European Unionand the European Federation of Pharmaceutical Industries and Associations. This work was also supported by the National Institutes of Health (National Institute of Arthritis and Musculoskeletal Skin Disease grant R01-AR-065953). The Assessment of Systemic Signs and Evolution in Sjögren’s Syndrome(ASSESS) national multicenter prospective cohort was formed in 2006 with aFrench Ministry of Health grant (Programme Hospitalier de Recherche Clinique 2005 P060228). The ASSESS cohort is promoted by the French Society of Rheumatology and receives research grants from the French Society of Rheumatology. Dr. Gottenberg’s work was supported by Bristol Myers Squibbfor transcriptomic analysis of the ASSESS and Norwegian cohorts and by Geneviève Garnier (Association Française du Syndrome de Gougerot-Sjögrenet des syndromes secs). Drs. Trutschel’s and Schwikowski’s work was supported by Geneviève Garnier (Association Française du Syndrome de Gougerot-Sjögren et des syndromes secs)., Milieu Intérieur Consortium, ASSESS study investigators, and NECESSITY Consortium: Emmanuelle Dernis, Valerie Devauchelle-Pensec, Philippe Dieude, Jean-Jacques Dubost, Anne-Laure Fauchais, Vincent Goeb, Eric Hachulla, Pierre Yves Hatron, Claire Larroche, Véronique Le Guern, Jacques Morel, Aleth Perdriger, Carinne Salliot, Stephanie Rist, Alain Saraux, Jean Sibilia, Olivier Vittecoq, Gaétane Nocturne, Philippe Ravaud, Raphaèle Seror, Laurent Abel, Andres Alcover, Hugues Aschard, Kalla Astrom, Philippe Bousso, Pierre Bruhns, Ana Cumano, Caroline Demangel, Ludovic Deriano, James Di Santo, Françoise Dromer, Gérard Eberl, Jost Enninga, Jacques Fellay, Odile Gelpi, Ivo GompertsBoneca, Milena Hasan, Serge Hercberg, Olivier Lantz, Claude Leclerc, Hugo Mouquet, Sandra Pellegrini, Stanislas Pol, Antonio Rausell, Lars Rogge, Anavaj Sakuntabhai, Olivier Schwartz, Benno Schwikowski, Spencer Shorte, Vassili Soumelis, Frédéric Tangy, Eric Tartour, Antoine Toubert, Mathilde Touvier, Marie-Noëlle Ungeheuer, Matthew L Albert, Darragh Duffy, Lluis Quintana-Murci., European Project: 806975,NECESSITY, Clauss, Isabelle, and NEw Clinical Endpoints in primary Sjögren’s Syndrome: an Interventional Trial based on stratifYing patients - NECESSITY - 0000-00-00 - 0000-00-00 - 806975 - VALID

Subjects
Proteomics, [SDV.MHEP.RSOA] Life Sciences [q-bio]/Human health and pathology/Rhumatology and musculoskeletal system, Sjogren's Syndrome, Rheumatology, [SDV.MHEP.RSOA]Life Sciences [q-bio]/Human health and pathology/Rhumatology and musculoskeletal system, HLA-DQ Antigens, Immunology, Humans, Interferon-alpha, Immunology and Allergy, Prospective Studies
Abstract

Objective: Primary Sjögren's syndrome (SS) is the second most frequent systemic autoimmune disease, affecting 0.1% of the general population. To characterize the molecular and clinical variabilities among patients with primary SS, we integrated transcriptomic, proteomic, cellular, and genetic data with clinical phenotypes in a cohort of 351 patients with primary SS. Methods: We analyzed blood transcriptomes and genotypes of 351 patients with primary SS who were participants in a multicenter prospective clinical cohort. We replicated the transcriptome analysis in 3 independent cohorts (n = 462 patients). We determined circulating interferon-α (IFNα) and IFNγ protein concentrations using digital single molecular arrays (Simoa). Results: Transcriptome analysis of the prospective cohort showed a strong IFN gene signature in more than half of the patients; this finding was replicated in the 3 independent cohorts. Because gene expression analysis did not discriminate between type I IFN and type II IFN, we used Simoa to demonstrate that the IFN transcriptomic signature was driven by circulating IFNα and not by IFNγ protein levels. IFNα protein levels, detectable in 75% of patients, were significantly associated with clinical and immunologic features of primary SS disease activity at enrollment and with increased frequency of systemic complications over the 5-year follow-up. Genetic analysis revealed a significant association between IFNα protein levels, a major histocompatibility (MHC) class II haplotype, and anti-SSA antibody. Additional cellular analysis revealed that an MHC class II HLA–DQ locus acts through up-regulation of HLA class II molecules on conventional dendritic cells. Conclusion: We identified the predominance of IFNα as a driver of primary SS variability, with IFNα demonstrating an association with HLA gene polymorphisms., Arthritis & Rheumatology, 74 (12), ISSN:2326-5191, ISSN:2326-5205

Published
2022
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23. Author Correction: Genome-wide association study identifies Sjogrens risk loci with functional implications in immune and glandular cells (vol 13, 4287, 2022)

Author

Khatri, Bhuwan, Tessneer, Kandice L., Rasmussen, Astrid, Aghakhanian, Farhang, Reksten, Tove Ragna, Adler, Adam, Alevizos, Ilias, Anaya, Juan-Manuel, Aqrawi, Lara A., Baecklund, Eva, Brun, Johan G., Bucher, Sara Magnusson, Eloranta, Maija-Leena, Engelke, Fiona, Forsblad-dElia, Helena, Glenn, Stuart B., Hammenfors, Daniel, Imgenberg-Kreuz, Juliana, Jensen, Janicke Liaaen, Johnsen, Svein Joar Auglaend, Jonsson, Malin V., Kvarnstrom, Marika, Kelly, Jennifer A., Li, He, Mandl, Thomas, Martin, Javier, Nocturne, Gaetane, Norheim, Katrine Braekke, Palm, Oyvind, Skarstein, Kathrine, Stolarczyk, Anna M., Taylor, Kimberly E., Teruel, Maria, Theander, Elke, Venuturupalli, Swamy, Wallace, Daniel J., Grundahl, Kiely M., Hefner, Kimberly S., Radfar, Lida, Lewis, David M., Stone, Donald U., Kaufman, C. Erick, Brennan, Michael T., Guthridge, Joel M., James, Judith A., Scofield, R. Hal, Gaffney, Patrick M., Criswell, Lindsey A., Jonsson, Roland, Eriksson, Per, Bowman, Simon J., Omdal, Roald, Ronnblom, Lars, Warner, Blake, Rischmueller, Maureen, Witte, Torsten, Farris, A. Darise, Mariette, Xavier, Alarcon-Riquelme, Marta E., Shiboski, Caroline H., Wahren-Herlenius, Marie, Ng, Wan-Fai, Sivils, Kathy L., Adrianto, Indra, Nordmark, Gunnel, Lessard, Christopher J., Khatri, Bhuwan, Tessneer, Kandice L., Rasmussen, Astrid, Aghakhanian, Farhang, Reksten, Tove Ragna, Adler, Adam, Alevizos, Ilias, Anaya, Juan-Manuel, Aqrawi, Lara A., Baecklund, Eva, Brun, Johan G., Bucher, Sara Magnusson, Eloranta, Maija-Leena, Engelke, Fiona, Forsblad-dElia, Helena, Glenn, Stuart B., Hammenfors, Daniel, Imgenberg-Kreuz, Juliana, Jensen, Janicke Liaaen, Johnsen, Svein Joar Auglaend, Jonsson, Malin V., Kvarnstrom, Marika, Kelly, Jennifer A., Li, He, Mandl, Thomas, Martin, Javier, Nocturne, Gaetane, Norheim, Katrine Braekke, Palm, Oyvind, Skarstein, Kathrine, Stolarczyk, Anna M., Taylor, Kimberly E., Teruel, Maria, Theander, Elke, Venuturupalli, Swamy, Wallace, Daniel J., Grundahl, Kiely M., Hefner, Kimberly S., Radfar, Lida, Lewis, David M., Stone, Donald U., Kaufman, C. Erick, Brennan, Michael T., Guthridge, Joel M., James, Judith A., Scofield, R. Hal, Gaffney, Patrick M., Criswell, Lindsey A., Jonsson, Roland, Eriksson, Per, Bowman, Simon J., Omdal, Roald, Ronnblom, Lars, Warner, Blake, Rischmueller, Maureen, Witte, Torsten, Farris, A. Darise, Mariette, Xavier, Alarcon-Riquelme, Marta E., Shiboski, Caroline H., Wahren-Herlenius, Marie, Ng, Wan-Fai, Sivils, Kathy L., Adrianto, Indra, Nordmark, Gunnel, and Lessard, Christopher J.

Published
2022
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24. Brief Report: Rare X Chromosome Abnormalities in Systemic Lupus Erythematosus and Sjögrenʼs Syndrome

Author

Sharma, Rohan, Harris, Valerie M., Cavett, Joshua, Kurien, Biji T., Liu, Ke, Koelsch, Kristi A., Fayaaz, Anum, Chaudhari, Kaustubh S., Radfar, Lida, Lewis, David, Stone, Donald U., Kaufman, C. Erick, Li, Shibo, Segal, Barbara, Wallace, Daniel J., Weisman, Michael H., Venuturupalli, Swamy, Kelly, Jennifer A., Pons‐Estel, Bernardo, Jonsson, Roland, Lu, Xianglan, Gottenberg, Jacques‐Eric, Anaya, Juan‐Manuel, Cunninghame‐Graham, Deborah S., Huang, Andrew J. W., Brennan, Michael T., Hughes, Pamela, Alevizos, Ilias, Miceli‐Richard, Corinne, Keystone, Edward C., Bykerk, Vivian P., Hirschfield, Gideon, Nordmark, Gunnel, Bucher, Sara Magnusson, Eriksson, Per, Omdal, Roald, Rhodus, Nelson L., Rischmueller, Maureen, Rohrer, Michael, Wahren‐Herlenius, Marie, Witte, Torsten, Alarcón‐Riquelme, Marta, Mariette, Xavier, Lessard, Christopher J., Harley, John B., Ng, Wan‐Fai, Rasmussen, Astrid, Sivils, Kathy L., and Scofield, R. Hal

Published
2017
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25. X Chromosome Dose and Sex Bias in Autoimmune Diseases: Increased Prevalence of 47,XXX in Systemic Lupus Erythematosus and Sjögrenʼs Syndrome

Author

Liu, Ke, Kurien, Biji T., Zimmerman, Sarah L., Kaufman, Kenneth M., Taft, Diana H., Kottyan, Leah C., Lazaro, Sara, Weaver, Carrie A., Ice, John A., Adler, Adam J., Chodosh, James, Radfar, Lida, Rasmussen, Astrid, Stone, Donald U., Lewis, David M., Li, Shibo, Koelsch, Kristi A., Igoe, Ann, Talsania, Mitali, Kumar, Jay, Maier-Moore, Jacen S., Harris, Valerie M., Gopalakrishnan, Rajaram, Jonsson, Roland, Lessard, James A., Lu, Xianglan, Gottenberg, Jacques-Eric, Anaya, Juan-Manuel, Cunninghame-Graham, Deborah S., Huang, Andrew J. W., Brennan, Michael T., Hughes, Pamela, Illei, Gabor G., Miceli-Richard, Corinne, Keystone, Edward C., Bykerk, Vivian P., Hirschfield, Gideon, Xie, Gang, Ng, Wan-Fai, Nordmark, Gunnel, Eriksson, Per, Omdal, Roald, Rhodus, Nelson L., Rischmueller, Maureen, Rohrer, Michael, Segal, Barbara M., Vyse, Timothy J., Wahren-Herlenius, Marie, Witte, Torsten, Pons-Estel, Bernardo, Alarcón-Riquelme, Marta E., Guthridge, Joel M., James, Judith A., Lessard, Christopher J., Kelly, Jennifer A., Thompson, Susan D., Gaffney, Patrick M., Montgomery, Courtney G., Edberg, Jeffrey C., Kimberly, Robert P., Alarcón, Graciela S., Langefeld, Carl L., Gilkeson, Gary S., Kamen, Diane L., Tsao, Betty P., McCune, Joseph W., Salmon, Jane E., Merrill, Joan T., Weisman, Michael H., Wallace, Daniel J., Utset, Tammy O., Bottinger, Erwin P., Amos, Christopher I., Siminovitch, Katherine A., Mariette, Xavier, Sivils, Kathy L., Harley, John B., and Scofield, Hal R.

Published
2016
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26. Identification of a Systemic Lupus Erythematosus Risk Locus Spanning ATG16L2, FCHSD2, and P2RY2 in Koreans

Author

Lessard, Christopher J., Sajuthi, Satria, Zhao, Jian, Kim, Kwangwoo, Ice, John A., Li, He, Ainsworth, Hannah, Rasmussen, Astrid, Kelly, Jennifer A., Marion, Miranda, Bang, So-Young, Joo, Young Bin, Choi, Jeongim, Lee, Hye-Soon, Kang, Young Mo, Suh, Chang-Hee, Chung, Won Tae, Lee, Soo-Kon, Choe, Jung-Yoon, Shim, Seung Cheol, Oh, Ji Hee, Kim, Young Jin, Han, Bok-Ghee, Shen, Nan, Howe, Hwee Siew, Wakeland, Edward K., Li, Quan-Zhen, Song, Yeong Wook, Gaffney, Patrick M., Alarcón-Riquelme, Marta E., Criswell, Lindsey A., Jacob, Chaim O., Kimberly, Robert P., Vyse, Timothy J., Harley, John B., Sivils, Kathy L., Bae, Sang-Cheol, Langefeld, Carl D., and Tsao, Betty P.

Published
2016
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28. Brief Report: Patients With Primary Sjögrenʼs Syndrome Who Are Positive for Autoantibodies to Tripartite Motif–Containing Protein 38 Show Greater Disease Severity

Author

Wolska, Nina, Rybakowska, Paulina, Rasmussen, Astrid, Brown, Michael, Montgomery, Courtney, Klopocki, Arkadiusz, Grundahl, Kiely, Scofield, Robert H., Radfar, Lida, Stone, Donald U., Anaya, Juan M., Ice, John A., Lessard, Christopher J., Lewis, David M., Rhodus, Nelson L., Gopalakrishnan, Rajaram, Huang, Andrew J. W., Hughes, Pamela J., Rohrer, Michael D., Weisman, Michael H., Venuturupalli, Swamy, Guthridge, Joel M., James, Judith A., Sivils, Kathy L., Bagavant, Harini, and Deshmukh, Umesh S.

Published
2016
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29. Genetic variants at the RTP4/MASP1 locus are associated with fatigue in Scandinavian patients with primary Sjögren’s syndrome

Author

Norheim, Katrine Brække, primary, Imgenberg-Kreuz, Juliana, additional, Alexsson, Andrei, additional, Johnsen, Svein Joar Auglænd, additional, Bårdsen, Kjetil, additional, Brun, Johan Gorgas, additional, Dehkordi, Rezvan Kiani, additional, Theander, Elke, additional, Mandl, Thomas, additional, Jonsson, Roland, additional, Ng, Wan-Fai, additional, Lessard, Christopher J, additional, Rasmussen, Astrid, additional, Sivilis, Kathy, additional, Ronnblom, Lars, additional, and Omdal, Roald, additional

Published
2021
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31. Defective Efferocytosis in a Murine Model of Sjögren’s Syndrome Is Mediated by Dysfunctional Mer Tyrosine Kinase Receptor

Author

Witas, Richard, primary, Rasmussen, Astrid, additional, Scofield, Robert H., additional, Radfar, Lida, additional, Stone, Donald U., additional, Grundahl, Kiely, additional, Lewis, David, additional, Sivils, Kathy L., additional, Lessard, Christopher J., additional, Farris, A. Darise, additional, and Nguyen, Cuong Q., additional

Published
2021
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32. Genetic variants at the RTP4/MASP1 locus are associated with fatigue in Scandinavian patients with primary Sjogren's syndrome

Author

Norheim, Katrine Braekke, Imgenberg-Kreuz, Juliana, Alexsson, Andrei, Johnsen, Svein Joar Auglaend, Bårdsen, Kjetil, Brun, Johan Gorgas, Kiani Dehkordi, Rezvan, Theander, Elke, Mandl, Thomas, Jonsson, Roland, Ng, Wan-Fai, Lessard, Christopher J., Rasmussen, Astrid, Sivilis, Kathy, Rönnblom, Lars, Omdal, Roald, Norheim, Katrine Braekke, Imgenberg-Kreuz, Juliana, Alexsson, Andrei, Johnsen, Svein Joar Auglaend, Bårdsen, Kjetil, Brun, Johan Gorgas, Kiani Dehkordi, Rezvan, Theander, Elke, Mandl, Thomas, Jonsson, Roland, Ng, Wan-Fai, Lessard, Christopher J., Rasmussen, Astrid, Sivilis, Kathy, Rönnblom, Lars, and Omdal, Roald

Abstract

Objectives Fatigue is common and severe in primary Sjogren's syndrome (pSS). The aim of this study was to identify genetic determinants of fatigue in pSS through a genome-wide association study. Methods Patients with pSS from Norway, Sweden, UK and USA with fatigue and genotype data available were included. After genotype imputation and quality control, 682 patients and 4 966 157 genetic markers were available. Association analysis in each cohort using linear regression with fatigue as a continuous variable and meta-analyses between the cohorts were performed. Results Meta-analysis of the Norwegian and Swedish cohorts identified five polymorphisms within the same linkage disequilibrium block at the receptor transporter protein 4 (RTP4)/MASP1 locus associated with fatigue with genome-wide significance (GWS) (p<5x10(-8)). Patients homozygous for the major allele scored 25 mm higher on the fatigue Visual Analogue Scale than patients homozygous for the minor allele. There were no variants associated with fatigue with GWS in meta-analyses of the US/UK cohorts, or all four cohorts. RTP4 expression in pSS B cells was upregulated and positively correlated with the type I interferon score. Expression quantitative trait loci effects in whole blood for fatigue-associated variants at RTP4/MASP1 and levels of RTP4 and MASP1 expression were identified. Conclusion Genetic variations at RTP4/MASP1 are associated with fatigue in Scandinavian pSS patients. RTP4 encodes a Golgi chaperone that influences opioid pain receptor function and MASP1 is involved in complement activation. These results add evidence for genetic influence over fatigue in pSS.

Published
2021
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34. Comparison of the American-European Consensus Group Sjögrenʼs syndrome classification criteria to newly proposed American College of Rheumatology criteria in a large, carefully characterised sicca cohort

Author

Rasmussen, Astrid, Ice, John A, Li, He, Grundahl, Kiely, Kelly, Jennifer A, Radfar, Lida, Stone, Donald U, Hefner, Kimberly S, Anaya, Juan-Manuel, Rohrer, Michael, Gopalakrishnan, Rajaram, Houston, Glen D, Lewis, David M, Chodosh, James, Harley, John B, Hughes, Pamela, Maier-Moore, Jacen S, Montgomery, Courtney G, Rhodus, Nelson L, Farris, A Darise, Segal, Barbara M, Jonsson, Roland, Lessard, Christopher J, Scofield, R Hal, and Sivils, Kathy L Moser

Published
2014
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35. Transcriptomic and Network Analysis of Minor Salivary Glands of Patients With Primary Sjögren’s Syndrome

Author

Oyelakin, Akinsola, primary, Horeth, Erich, additional, Song, Eun-Ah Christine, additional, Min, Sangwon, additional, Che, Monika, additional, Marzullo, Brandon, additional, Lessard, Christopher J., additional, Rasmussen, Astrid, additional, Radfar, Lida, additional, Scofield, R. Hal, additional, Lewis, David M., additional, Stone, Donald U., additional, Grundahl, Kiely, additional, De Rossi, Scott S., additional, Kurago, Zoya, additional, Farris, A. Darise, additional, Sivils, Kathy L., additional, Sinha, Satrajit, additional, Kramer, Jill M., additional, and Romano, Rose-Anne, additional

Published
2021
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38. Genetic analyses of interferon pathway–related genes reveal multiple new loci associated with systemic lupus erythematosus

Author

Ramos, Paula S., Williams, Adrienne H., Ziegler, Julie T., Comeau, Mary E., Guy, Richard T., Lessard, Christopher J., Li, He, Edberg, Jeffrey C., Zidovetzki, Raphael, Criswell, Lindsey A., Gaffney, Patrick M., Graham, Deborah Cunninghame, Graham, Robert R., Kelly, Jennifer A., Kaufman, Kenneth M., Brown, Elizabeth E., Alarcón, Graciela S., Petri, Michelle A., Reveille, John D., McGwin, Gerald, Vilá, Luis M., Ramsey-Goldman, Rosalind, Jacob, Chaim O., Vyse, Timothy J., Tsao, Betty P., Harley, John B., Kimberly, Robert P., Alarcón-Riquelme, Marta E., Langefeld, Carl D., and Moser, Kathy L.

Published
2011
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39. Sjögren’s Syndrome Minor Salivary Gland CD4+ Memory T Cells Associate with Glandular Disease Features and Have a Germinal Center T Follicular Helper Transcriptional Profile

Author

Joachims, Michelle L., primary, Leehan, Kerry M., additional, Dozmorov, Mikhail G., additional, Georgescu, Constantin, additional, Pan, Zijian, additional, Lawrence, Christina, additional, Marlin, M. Caleb, additional, Macwana, Susan, additional, Rasmussen, Astrid, additional, Radfar, Lida, additional, Lewis, David M., additional, Stone, Donald U., additional, Grundahl, Kiely, additional, Scofield, R. Hal, additional, Lessard, Christopher J., additional, Wren, Jonathan D., additional, Thompson, Linda F., additional, Guthridge, Joel M., additional, Sivils, Kathy L., additional, Moore, Jacen S., additional, and Farris, A. Darise, additional

Published
2020
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40. American Indians Have a Higher Risk of Sjögren's Syndrome and More Disease Activity Than European Americans and African Americans

Author

Scofield, R. Hal, primary, Sharma, Rohan, additional, Pezant, Nathan, additional, Kelly, Jennifer A., additional, Radfar, Lida, additional, Lewis, David M., additional, Kaufman, C. Erick, additional, Cioli, Sarah, additional, Harris, Judy, additional, Grundahl, Kiely, additional, Rhodus, Nelson L., additional, Wallace, Daniel J., additional, Weisman, Michael H., additional, Venuturupalli, Swamy, additional, Brennan, Michael T., additional, Koelsch, Kristi A., additional, Lessard, Christopher J., additional, Montgomery, Courtney G., additional, Sivils, Kathy L., additional, and Rasmussen, Astrid, additional

Published
2020
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41. Sjögren’s syndrome minor salivary gland CD4+ T cells associate with glandular disease features and have a germinal center T follicular helper transcriptional profile

Author

Farris, A. Darise, primary, Joachims, Michelle L, additional, Leehan, Kerry M, additional, Dozmorov, Mikhail G, additional, Georgescu, Constantin, additional, Pan, Zijian, additional, Rasmussen, Astrid, additional, Radfar, Lida, additional, Lewis, David M, additional, Stone, Donald U, additional, Grundahl, Kiely, additional, Scofield, R. Hal, additional, Lessard, Christopher J, additional, Wren, Jonathan D, additional, Thompson, Linda F, additional, Sivils, Kathy L, additional, and Moore, Jacen S, additional

Published
2020
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42. Gene expression profiling of epithelium-associated FcRL4+ B cells in primary Sjögren's syndrome reveals a pathogenic signature

Author

Verstappen, Gwenny M., primary, Ice, John A., additional, Bootsma, Hendrika, additional, Pringle, Sarah, additional, Haacke, Erlin A., additional, de Lange, Kim, additional, van der Vries, Gerben B., additional, Hickey, Peter, additional, Vissink, Arjan, additional, Spijkervet, Frederik K.L., additional, Lessard, Christopher J., additional, and Kroese, Frans G.M., additional

Published
2020
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44. Evidence for Alternate Modes of B cell Activation Involving Fab Acquired-N-Glycosylations in Antibody Secreting Cells Infiltrating the Labial Salivary Glands of Sjögren’s Syndrome Patients

Author

Koelsch, Kristi A., Cavett, Joshua, Smith, Kenneth, Moore, Jacen S., Lehoux, Sylvain D., Jia, Nan, Mather, Tim, Quadri, Syed M. S., Rasmussen, Astrid, Kaufman, C. Erick, Lewis, David M., Radfar, Lida, Scordino, Teresa A., Lessard, Christopher J., Kurien, Biji T., Cummings, Richard D., James, Judith A., Sivils, Kathy L., Farris, A. Darise, and Scofield, R. Hal

Subjects
Adult, Male, B-Lymphocytes, Glycosylation, Middle Aged, Lymphocyte Activation, Article, Salivary Glands, Sjogren's Syndrome, Humans, Female, Somatic Hypermutation, Immunoglobulin, Antibody-Producing Cells, Aged, Cell Proliferation
Abstract

To better understand the role of B cells, the potential mechanisms responsible for their aberrant activation, and the production of autoantibodies in the pathogenesis of Sjögren's syndrome (SS), this study explored patterns of selection pressure and sites of N-glycosylation acquired by somatic mutation (acN-glyc) in the IgG variable (V) regions of antibody-secreting cells (ASCs) isolated from the minor salivary glands of patients with SS and non-SS control patients with sicca symptoms.A novel method to produce and characterize recombinant monoclonal antibodies (mAb) from single cell-sorted ASC infiltrates was applied to concurrently probe expressed genes (all heavy- and light-chain isotypes as well as any other gene of interest not related to immunoglobulin) in the labial salivary glands of patients with SS and non-SS controls. V regions were amplified by reverse transcription-polymerase chain reaction, sequenced, and analyzed for the incidence of N-glycosylation and selection pressure. For specificity testing, the amplified regions were expressed as either the native mAb or mutant mAb lacking the acN-glyc motif. Protein modeling was used to demonstrate how even an acN-glyc site outside of the complementarity-determining region could participate in, or inhibit, antigen binding.V-region sequence analyses revealed clonal expansions and evidence of secondary light-chain editing and allelic inclusion, of which neither of the latter two have previously been reported in patients with SS. Increased frequencies of acN-glyc were found in the sequences from patients with SS, and these acN-glyc regions were associated with an increased number of replacement mutations and lowered selection pressure. A clonal set of polyreactive mAb with differential framework region 1 acN-glyc motifs was also identified, and removal of the acN-glyc could nearly abolish binding to autoantigens.These findings support the notion of an alternative mechanism for the selection and proliferation of some autoreactive B cells, involving V-region N-glycosylation, in patients with SS.

Published
2018

45. Reproducibility of Ocular Surface Staining in the Assessment of Sjögren Syndrome–Related Keratoconjunctivitis Sicca: Implications on Disease Classification

Author

Rasmussen, Astrid, primary, Stone, Donald U., additional, Kaufman, C. Erick, additional, Hefner, Kimberly S., additional, Fram, Nicole R., additional, Siatkowski, Rhea L., additional, Huang, Andrew J. W., additional, Chodosh, James, additional, Rasmussen, Pablo T., additional, Fife, Dustin A., additional, Pezant, Nathan, additional, Grundahl, Kiely, additional, Radfar, Lida, additional, Lewis, David M., additional, Weisman, Michael H., additional, Venuturupalli, Swamy, additional, Wallace, Daniel J., additional, Rhodus, Nelson L., additional, Brennan, Michael T., additional, Montgomery, Courtney G., additional, Lessard, Christopher J., additional, Scofield, R. Hal, additional, and Sivils, Kathy L., additional

Published
2019
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47. Functional characterization of the Sjögren's syndrome-associated locus DDX6-CXCR5

Author

Khanam, Sharmily, Joachims, Michelle L., Means, Nicholas, Adrianto, Indra, Rasmussen, Astrid, Bowman, Simon J., Lewis, David M., Radfar, Lida, Omdal, Roald, Wahren-Herleniuss, Marie, Alevizos, Ilias, Witte, Torsten, Jonsson, Roland, Rischmueller, Maureen, Gaffney, Patrick M., James, Judith A., Rönnblom, Lars, Theander, Elke, Rhodus, Nelson L., Segal, Barbara M., Scofield, R. Hal, Montgomery, Courtney G., Mariette, Xavier, Ng, Wan-Fai, Nordmark, Gunnel, Sivils, Kathy L., Lessard, Christopher J., Khanam, Sharmily, Joachims, Michelle L., Means, Nicholas, Adrianto, Indra, Rasmussen, Astrid, Bowman, Simon J., Lewis, David M., Radfar, Lida, Omdal, Roald, Wahren-Herleniuss, Marie, Alevizos, Ilias, Witte, Torsten, Jonsson, Roland, Rischmueller, Maureen, Gaffney, Patrick M., James, Judith A., Rönnblom, Lars, Theander, Elke, Rhodus, Nelson L., Segal, Barbara M., Scofield, R. Hal, Montgomery, Courtney G., Mariette, Xavier, Ng, Wan-Fai, Nordmark, Gunnel, Sivils, Kathy L., and Lessard, Christopher J.

Published
2018

48. Correction: Klinefelters syndrome (47,XXY) is in excess among men with Sjogrens syndrome (vol 168, pg 25, 2016)

Author

Harris, Valerie M., Sharma, Rohan, Cavett, Joshua, Kurien, Biji T., Liu, Ke, Koelsch, Kristi A., Rasmussen, Astrid, Radfar, Lida, Lewis, David, Stone, Donald U., Kaufman, C. Erick, Li, Shibo, Segal, Barbara, Wallace, Daniel J., Weisman, Michael H., Venuturupalli, Swamy, Kelly, Jennifer A., Alarcon-Riquelme, Marta E., Pons-Estel, Bernardo, Jonsson, Roland, Lu, Xianglan, Gottenberg, Jacques-Eric, Anaya, Juan-Manuel, Cunninghame-Graham, Deborah S., Huang, Andrew J. W., Brennan, Michael T., Hughes, Pamela, Alevizos, Ilias, Miceli-Richard, Corinne, Keystone, Edward C., Bykerk, Vivian P., Hirschfield, Gideon, Xie, Gang, Siminovitch, Katherine A., Ng, Wan-Fai, Nordmark, Gunnel, Bucher, Sara Magnusson, Eriksson, Per, Omdal, Roald, Rhodus, Nelson L., Rischmueller, Maureen, Rohrer, Michael, Wahren-Herlenius, Marie, Witte, Torsten, Mariette, Xavier, Lessard, Christopher J., Harley, John B., Sivils, Kathy L., Scofield, R. Hal, Harris, Valerie M., Sharma, Rohan, Cavett, Joshua, Kurien, Biji T., Liu, Ke, Koelsch, Kristi A., Rasmussen, Astrid, Radfar, Lida, Lewis, David, Stone, Donald U., Kaufman, C. Erick, Li, Shibo, Segal, Barbara, Wallace, Daniel J., Weisman, Michael H., Venuturupalli, Swamy, Kelly, Jennifer A., Alarcon-Riquelme, Marta E., Pons-Estel, Bernardo, Jonsson, Roland, Lu, Xianglan, Gottenberg, Jacques-Eric, Anaya, Juan-Manuel, Cunninghame-Graham, Deborah S., Huang, Andrew J. W., Brennan, Michael T., Hughes, Pamela, Alevizos, Ilias, Miceli-Richard, Corinne, Keystone, Edward C., Bykerk, Vivian P., Hirschfield, Gideon, Xie, Gang, Siminovitch, Katherine A., Ng, Wan-Fai, Nordmark, Gunnel, Bucher, Sara Magnusson, Eriksson, Per, Omdal, Roald, Rhodus, Nelson L., Rischmueller, Maureen, Rohrer, Michael, Wahren-Herlenius, Marie, Witte, Torsten, Mariette, Xavier, Lessard, Christopher J., Harley, John B., Sivils, Kathy L., and Scofield, R. Hal

Abstract

n/a, Funding Agencies|BLRD VA [I01 BX001451]

Published
2018
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50. Evidence of Alternative Modes of B Cell Activation Involving Acquired Fab Regions of N -Glycosylation in Antibody-Secreting Cells Infiltrating the Labial Salivary Glands of Patients With Sjögren’s Syndrome

Author

Koelsch, Kristi A., primary, Cavett, Joshua, additional, Smith, Kenneth, additional, Moore, Jacen S., additional, Lehoux, Sylvain D., additional, Jia, Nan, additional, Mather, Tim, additional, Quadri, Syed M. S., additional, Rasmussen, Astrid, additional, Kaufman, C. Erick, additional, Lewis, David M., additional, Radfar, Lida, additional, Scordino, Teresa A., additional, Lessard, Christopher J., additional, Kurien, Biji T., additional, Cummings, Richard D., additional, James, Judith A., additional, Sivils, Kathy L., additional, Farris, A. Darise, additional, and Scofield, R. Hal, additional

Published
2018
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