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1. OP0113 GENOME-WIDE ASSOCIATION STUDY OF Ro/SSA+ AND Ro/SSA-SJÖGREN’S CASES IN THE SJÖGREN’S GENETIC NETWORK (SGENE) DEMONSTRATES DIVERGENT GENETIC ARCHITECTURE IN PATIENT SUBPHENOTYPES

Author

Rasmussen, A., primary, Radziszewski, M., additional, Khatri, B., additional, Tessneer, K. L., additional, Pontarini, E., additional, Bombardieri, M., additional, Rischmueller, M., additional, Wahren-Herlenius, M., additional, Kvarnström, M., additional, Witte, T., additional, Bootsma, H., additional, Verstappen, G. M., additional, Kroese, F. G. M., additional, Vissink, A., additional, Pringle, S., additional, Tzioufas, A., additional, Mavragani, C., additional, Baer, A., additional, Alarcon-Riquelme, M., additional, Martin, J., additional, Mariette, X., additional, Nocturne, G., additional, Pers, J. O., additional, Gottenberg, J. E., additional, Ng, W. F., additional, Shiboski, C., additional, Taylor, K. E., additional, Criswell, L., additional, Warner, B. M., additional, Farris, A. D., additional, James, J. A., additional, Scofield, R. H., additional, Guthridge, J. M., additional, Wallace, D. J., additional, Venuturupali, S., additional, Brennan, M. T., additional, Imgenberg-Kreuz, J., additional, Ronnblom, L., additional, Baecklund, E., additional, Eloranta, M. L., additional, Aqrawi, L. A., additional, Palm, Ø., additional, Brun, J. G., additional, Hammenfors, D., additional, Jonsson, M. V., additional, Appel, S., additional, Bucher, S. M., additional, Forsblad-D’elia, H., additional, Mandl, T., additional, Eriksson, P., additional, Nordmark, G., additional, and Lessard, C. J., additional

Published
2024
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3. POS0240 SINGLE-CELL TRANSCRIPTOMICS OFFERS NEW INSIGHTS INTO SJÖGREN’S DISEASE PATHOGENESIS IN THE SALIVARY GLAND

Author

Khatri, B., primary, Stolarczyk, A. M., additional, Marlin, M. C., additional, Smith, M., additional, Pritchett Frazee, C., additional, Beach, M., additional, Pelayo, E., additional, Khavandgar, Z., additional, Pérez, P., additional, Kleiner, D. E., additional, Hewitt, S. E., additional, Wei, K., additional, Theisen, E. M., additional, Tessneer, K. L., additional, Raychaudhuri, S., additional, Brenner, M. B., additional, Gudjonsson, J. E., additional, Hacohen, N., additional, James, J. A., additional, Scofield, R. H., additional, Shiboski, S., additional, Rasmussen, A., additional, Baer, A., additional, Farris, A. D., additional, Shiboski, C., additional, Warner, B. M., additional, Guthridge, J. M., additional, and Lessard, C. J., additional

Published
2024
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4. OP0128 SPATIAL TRANSCRIPTOMICS IMPLICATES GLANDULAR CELL INVOLVEMENT IN PATHOPHYSIOLOGY OF SJÖGREN’S DISEASE

Author

Yao, S., primary, Wilbrink, R., additional, Czarnota, P., additional, Marlin, M. C., additional, Khatri, B., additional, Stolarczyk, A. M., additional, Pritchett Frazee, C., additional, Li, C., additional, Wright, K., additional, Tessneer, K. L., additional, James, J. A., additional, Scofield, R. H., additional, Adrianto, I., additional, Rasmussen, A., additional, Guthridge, J. M., additional, Farris, A. D., additional, and Lessard, C. J., additional

Published
2024
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6. A functional haplotype of UBE2L3 confers risk for systemic lupus erythematosus

Author

Wang, S, Adrianto, I, Wiley, G B, Lessard, C J, Kelly, J A, Adler, A J, Glenn, S B, Williams, A H, Ziegler, J T, Comeau, M E, Marion, M C, Wakeland, B E, Liang, C, Kaufman, K M, Guthridge, J M, Alarcón-Riquelme, M E, Alarcón, G S, Anaya, J-M, Bae, S-C, Kim, J-H, Joo, Y B, Boackle, S A, Brown, E E, Petri, M A, Ramsey-Goldman, R, Reveille, J D, Vilá, L M, Criswell, L A, Edberg, J C, Freedman, B I, Gilkeson, G S, Jacob, C O, James, J A, Kamen, D L, Kimberly, R P, Martin, J, Merrill, J T, Niewold, T B, Pons-Estel, B A, Scofield, R H, Stevens, A M, Tsao, B P, Vyse, T J, Langefeld, C D, Harley, J B, Wakeland, E K, Moser, K L, Montgomery, C G, and Gaffney, P M

Published
2012
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7. Role of MYH9 and APOL1 in African and non-African populations with lupus nephritis

Author

Lin, C P, Adrianto, I, Lessard, C J, Kelly, J A, Kaufman, K M, Guthridge, J M, Freedman, B I, Anaya, J-M, Alarcón-Riquelme, M E, Pons-Estel, B A, Martin, J, Glenn, S, Adler, A, Bae, S-C, Park, S-Y, Bang, S-Y, Song, Y-W, Boackle, S A, Brown, E E, Edberg, J C, Alarcón, G S, Petri, M A, Criswell, L A, Ramsey-Goldman, R, Reveille, J D, Vila, L M, Gilkeson, G S, Kamen, D L, Ziegler, J, Jacob, C O, Rasmussen, A, James, J A, Kimberly, R P, Merrill, J T, Niewold, T B, Scofield, R H, Stevens, A M, Tsao, B P, Vyse, T J, Langefeld, C D, Moser, K L, Harley, J B, Gaffney, P M, and Montgomery, C G

Published
2012
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11. Identification of Multiple Sjogren'S Syndrome Susceptibility Loci

Author

Lessard, C. J., Li, H., Ice, J. A., Adrianto, I., Jonsson, R., Illei, G. G., Rischmueller, M., Nordmark, Gunnel, Mariette, X., Miceli-Richard, C., Herlenius, M. Wahren, Witte, T., Brennan, M., Omdal, R., Gaffney, P. M., Lessard, J. A., Rönnblom, Lars, Ng, W. -F, Rhodus, N., Segal, B., Scofield, R. H., James, J. A., Anaya, J. -M, Montgomery, C. G., Harley, J. B., Sivils, K. Moser, Lessard, C. J., Li, H., Ice, J. A., Adrianto, I., Jonsson, R., Illei, G. G., Rischmueller, M., Nordmark, Gunnel, Mariette, X., Miceli-Richard, C., Herlenius, M. Wahren, Witte, T., Brennan, M., Omdal, R., Gaffney, P. M., Lessard, J. A., Rönnblom, Lars, Ng, W. -F, Rhodus, N., Segal, B., Scofield, R. H., James, J. A., Anaya, J. -M, Montgomery, C. G., Harley, J. B., and Sivils, K. Moser

Published
2013
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12. A functional haplotype of UBE2L3 confers risk for systemic lupus erythematosus

Author

Wang, Shanshan, Adrianto, I., Wiley, G., Lessard, C. J., Kelly, J. A., Adler, A. J., Glenn, S. B., Williams, A. H., Ziegler, Julie, Comeau, M. E., Marion, M. C., Wakeland, B. E., Liang, C., Kaufman, K. M., Guthridge, J. M., Alarcón-Riquelme, M. E., Alarcón, G. S., Anaya, J. M., Bae, S. C., Kim, J. H., Joo, Y. B., Boackle, S. A., Brown, E. E., Petri, M., Ramsey-Goldman, R., Reveille, J. D., Vilá, Luis M., Criswell, L. A., Edberg, J. C., Freedman, Barry I., Gilkeson, G. S., Jacob, C. O., James, J. A., Kamen, D. L., Kimberly, R. P., Martín, J., Merrill, J. T., Niewold, T. B., Pons-Estel, B. A., Scofield, R. H., Stevens, A. M., Tsao, B. P., Vyse, T. J., Langefeld, C. D., Harley, J. B., Wakeland, E. K., Moser, K. L., Montgomery, C. G., Gaffney, P. M., Wang, Shanshan, Adrianto, I., Wiley, G., Lessard, C. J., Kelly, J. A., Adler, A. J., Glenn, S. B., Williams, A. H., Ziegler, Julie, Comeau, M. E., Marion, M. C., Wakeland, B. E., Liang, C., Kaufman, K. M., Guthridge, J. M., Alarcón-Riquelme, M. E., Alarcón, G. S., Anaya, J. M., Bae, S. C., Kim, J. H., Joo, Y. B., Boackle, S. A., Brown, E. E., Petri, M., Ramsey-Goldman, R., Reveille, J. D., Vilá, Luis M., Criswell, L. A., Edberg, J. C., Freedman, Barry I., Gilkeson, G. S., Jacob, C. O., James, J. A., Kamen, D. L., Kimberly, R. P., Martín, J., Merrill, J. T., Niewold, T. B., Pons-Estel, B. A., Scofield, R. H., Stevens, A. M., Tsao, B. P., Vyse, T. J., Langefeld, C. D., Harley, J. B., Wakeland, E. K., Moser, K. L., Montgomery, C. G., and Gaffney, P. M.

Abstract

Systemic lupus erythematosus (SLE) is an autoimmune disease with diverse clinical manifestations characterized by the development of pathogenic autoantibodies manifesting in inflammation of target organs such as the kidneys, skin and joints. Genome-wide association studies have identified genetic variants in the UBE2L3 region that are associated with SLE in subjects of European and Asian ancestry. UBE2L3 encodes an ubiquitin-conjugating enzyme, UBCH7, involved in cell proliferation and immune function. In this study, we sought to further characterize the genetic association in the region of UBE2L3 and use molecular methods to determine the functional effect of the risk haplotype. We identified significant associations between variants in the region of UBE2L3 and SLE in individuals of European and Asian ancestry that exceeded a Bonferroni-corrected threshold (P<1 × 10 -4). A single risk haplotype was observed in all associated populations. Individuals harboring the risk haplotype display a significant increase in both UBE2L3 mRNA expression (P=0.0004) and UBCH7 protein expression (P=0.0068). The results suggest that variants carried on the SLE-associated UBE2L3 risk haplotype influence autoimmunity by modulating UBCH7 expression. © 2012 Macmillan Publishers Limited All rights reserved.

Published
2012

13. Role of MYH9 and APOL1 in African and non-African populations with lupus nephritis

Author

Lin, C. P., Adrianto, I., Lessard, C. J., Kelly, J. A., Kaufman, K. M., Guthridge, J. M., Freedman, Barry I., Anaya, J. M., Alarcón-Riquelme, M. E., Pons-Estel, B. A., Martín, J., Glenn, S. B., Petri, M., Criswell, L. A., Ramsey-Goldman, R., Reveille, J. D., Vilá, Luis M., Gilkeson, G. S., Kamen, D. L., Ziegler, Julie, Jacob, C. O., Rasmussen, A., James, J. A., Kimberly, R. P., Merrill, J. T., Niewold, T. B., Scofield, R. H., Stevens, A. M., Tsao, B. P., Vyse, T. J., Langefeld, C. D., Moser, K. L., Harley, J. B., Gaffney, P. M., Montgomery, C. G., Lin, C. P., Adrianto, I., Lessard, C. J., Kelly, J. A., Kaufman, K. M., Guthridge, J. M., Freedman, Barry I., Anaya, J. M., Alarcón-Riquelme, M. E., Pons-Estel, B. A., Martín, J., Glenn, S. B., Petri, M., Criswell, L. A., Ramsey-Goldman, R., Reveille, J. D., Vilá, Luis M., Gilkeson, G. S., Kamen, D. L., Ziegler, Julie, Jacob, C. O., Rasmussen, A., James, J. A., Kimberly, R. P., Merrill, J. T., Niewold, T. B., Scofield, R. H., Stevens, A. M., Tsao, B. P., Vyse, T. J., Langefeld, C. D., Moser, K. L., Harley, J. B., Gaffney, P. M., and Montgomery, C. G.

Abstract

Systemic lupus erythematosus (SLE) is a complex autoimmune disease characterized by autoantibody production and organ damage. Lupus nephritis (LN) is one of the most severe manifestations of SLE. Multiple studies reported associations between renal diseases and variants in the non-muscle myosin heavy chain 9 (MYH9) and the neighboring apolipoprotein L 1 (APOL1) genes. We evaluated 167 variants spanning MYH9 for association with LN in a multiethnic sample. The two previously identified risk variants in APOL1 were also tested for association with LN in European-Americans (EAs) (N=579) and African-Americans (AAs) (N=407). Multiple peaks of association exceeding a Bonferroni corrected P-value of P<2.03 × 10 -3 were observed between LN and MYH9 in EAs (N=4620), with the most pronounced association at rs2157257 (P=4.7 × 10 -4, odds ratio (OR)=1.205). A modest effect with MYH9 was also detected in Gullah (rs8136069, P=0.0019, OR=2.304). No association between LN and MYH9 was found in AAs, Asians, Amerindians or Hispanics. This study provides the first investigation of MYH9 in LN in non-Africans and of APOL1 in LN in any population, and presents novel insight into the potential role of MYH9 in LN in EAs. © 2012 Macmillan Publishers Limited All rights reserved.

Published
2012

14. Identification of a systemic lupus erythematosus susceptibility locus at 11p13 between PDHX and CD44 in a multiethnic study

Author

Lessard, C. J., Adrianto, I., Kelly, J. A., Kaufman, K. M., Grundahl, K. M., Adler, A. J., Williams, A. H., Gallant, C., Anaya, J. M., Bae, S. C., Boackle, S. A., Brown, E. E., Chang, D. M., Criswell, L. A., Edberg, J. C., Freedman, Barry I., Gregersen, Peter K., Gilkeson, G. S., Jacob, C. O., James, J. A., Kamen, D. L., Kimberly, R. P., Martín, J., Merrill, J. T., Niewold, T. B., Park, Su-Yeon, Petri, M., Pons-Estel, B. A., Ramsey-Goldman, R., Reveille, J. D., Song, Y. W., Stevens, A. M., Tsao, B. P., Vilá, Luis M., Vyse, T. J., Yu, C. Y., Guthridge, J. M., Bruner, G. R., Langefeld, C. D., Montgomery, C. G., Harley, J. B., Scofield, R. H., Gaffney, P. M., Moser, K. L., Lessard, C. J., Adrianto, I., Kelly, J. A., Kaufman, K. M., Grundahl, K. M., Adler, A. J., Williams, A. H., Gallant, C., Anaya, J. M., Bae, S. C., Boackle, S. A., Brown, E. E., Chang, D. M., Criswell, L. A., Edberg, J. C., Freedman, Barry I., Gregersen, Peter K., Gilkeson, G. S., Jacob, C. O., James, J. A., Kamen, D. L., Kimberly, R. P., Martín, J., Merrill, J. T., Niewold, T. B., Park, Su-Yeon, Petri, M., Pons-Estel, B. A., Ramsey-Goldman, R., Reveille, J. D., Song, Y. W., Stevens, A. M., Tsao, B. P., Vilá, Luis M., Vyse, T. J., Yu, C. Y., Guthridge, J. M., Bruner, G. R., Langefeld, C. D., Montgomery, C. G., Harley, J. B., Scofield, R. H., Gaffney, P. M., and Moser, K. L.

Abstract

Systemic lupus erythematosus (SLE) is considered to be the prototypic autoimmune disease, with a complex genetic architecture influenced by environmental factors. We sought to replicate a putative association at 11p13 not yet exceeding genome-wide significance (p < 5 × 10-8) identified in a genome-wide association study (GWAS). Our GWA scan identified two intergenic SNPs located between PDHX and CD44 showing suggestive evidence of association with SLE in cases of European descent (rs2732552, p = 0.004, odds ratio [OR] = 0.78; rs387619, p = 0.003, OR = 0.78). The replication cohort consisted of >15,000 subjects, including 3562 SLE cases and 3491 controls of European ancestry, 1527 cases and 1811 controls of African American (AA) descent, and 1265 cases and 1260 controls of Asian origin. We observed robust association at both rs2732552 (p = 9.03 × 10-8, OR = 0.83) and rs387619 (p = 7.7 × 10-7, OR = 0.83) in the European samples with pmeta = 1.82 × 10-9 for rs2732552. The AA and Asian SLE cases also demonstrated association at rs2732552 (p = 5 × 10-3, OR = 0.81 and p = 4.3 × 10-4, OR = 0.80, respectively). A meta-analysis of rs2732552 for all racial and ethnic groups studied produced pmeta = 2.36 × 10-13. This locus contains multiple regulatory sites that could potentially affect expression and functions of CD44, a cell-surface glycoprotein influencing immunologic, inflammatory, and oncologic phenotypes, or PDHX, a subunit of the pyruvate dehydrogenase complex. © 2011 The American Society of Human Genetics.

Published
2011

15. OP0020 Identification of Multiple Sjögren’s Syndrome Susceptibility Loci

Author

Lessard, C. J., primary, Li, H., additional, Ice, J. A., additional, Adrianto, I., additional, Jonsson, R., additional, Illei, G. G., additional, Rischmueller, M., additional, Nordmark, G., additional, Mariette, X., additional, Miceli-Richard, C., additional, Wahren Herlenius, M., additional, Witte, T., additional, Brennan, M., additional, Omdal, R., additional, Gaffney, P. M., additional, Lessard, J. A., additional, Rönnblom, L., additional, Ng, W.-F., additional, Rhodus, N., additional, Segal, B., additional, Scofield, R. H., additional, James, J. A., additional, Anaya, J.-M., additional, Montgomery, C. G., additional, Harley, J. B., additional, and Moser Sivils, K., additional

Published
2013
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