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Paula S. Ramos

Title
InstitutionMedical University of South Carolina
DepartmentRheumatology
AddressP.O. Box MSC 637
405E
Cannon Place - 135 Cannon St.
Phone843-792-7081
Fax843-792-7121
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    Dr. Ramos' research focuses on human genetics and is aimed at understanding the genetic etiology of human autoimmunity. She uses a combination of genetic epidemiology, statistical genetics, population genetics, bioinformatics and molecular genetic tools to identify the genetic factors that predispose to autoimmune disorders, especially systemic lupus erythematosus. She has been conducting multiple in silico analyses of data generated from genome-wide association studies (GWAS) of lupus, lupus nephritis, neonatal lupus, juvenile idiopathic arthritis and autism, having led a large-scale pathway analysis and an analysis of shared autoimmune variants. Current interests include the identification of 1:) rare coding variants in African-American lupus families, 2) lupus genetic risk variants that are under positive natural selection, 3) fetal genetic risk variants associated with neonatal lupus, and 4) DNA methylation sites associated with SLE, 5) neonatal lupus, and 6) with scleroderma.

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    Genetic etiology of autoimmune diseases, Systemic lupus erythematosus

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    Collapse selected publications
    Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Faculty can login to make corrections and additions.
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    1. Kortemeier E, Ramos PS, Hunt KJ, Kim HJ, Hardiman G, Chung D. ShinyGPA: An interactive visualization toolkit for investigating pleiotropic architecture using GWAS datasets. PLoS One. 2018; 13(1):e0190949. PMID: 29309429.
      View in: PubMed
    2. Morgan ND, Shah AA, Mayes MD, Domsic RT, Medsger TA, 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. 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. Medicine (Baltimore). 2017 Dec; 96(51):e8980. PMID: 29390428.
      View in: PubMed
    3. Ramos PS. Population Genetics and Natural Selection in Rheumatic Disease. Rheum Dis Clin North Am. 2017 Aug; 43(3):313-326. PMID: 28711136.
      View in: PubMed
    4. Langefeld CD, Ainsworth HC, Cunninghame Graham DS, Kelly JA, Comeau ME, Marion MC, Howard TD, Ramos PS, Croker JA, Morris DL, Sandling JK, Almlöf JC, Acevedo-Vásquez EM, Alarcón GS, Babini AM, Baca V, Bengtsson AA, Berbotto GA, Bijl M, Brown EE, Brunner HI, Cardiel MH, Catoggio L, Cervera R, Cucho-Venegas JM, Dahlqvist SR, D'Alfonso S, Da Silva BM, de la Rúa Figueroa I, Doria A, Edberg JC, Endreffy E, Esquivel-Valerio JA, Fortin PR, Freedman BI, Frostegård J, García MA, de la Torre IG, Gilkeson GS, Gladman DD, Gunnarsson I, Guthridge JM, Huggins JL, James JA, Kallenberg CGM, Kamen DL, Karp DR, Kaufman KM, Kottyan LC, Kovács L, Laustrup H, Lauwerys BR, Li QZ, Maradiaga-Ceceña MA, Martín J, McCune JM, McWilliams DR, Merrill JT, Miranda P, Moctezuma JF, Nath SK, Niewold TB, Orozco L, Ortego-Centeno N, Petri M, Pineau CA, Pons-Estel BA, Pope J, Raj P, Ramsey-Goldman R, Reveille JD, Russell LP, Sabio JM, Aguilar-Salinas CA, Scherbarth HR, Scorza R, Seldin MF, Sjöwall C, Svenungsson E, Thompson SD, Toloza SMA, Truedsson L, Tusié-Luna T, Vasconcelos C, Vilá LM, Wallace DJ, Weisman MH, Wither JE, Bhangale T, Oksenberg JR, Rioux JD, Gregersen PK, Syvänen AC, Rönnblom L, Criswell LA, Jacob CO, Sivils KL, Tsao BP, Schanberg LE, Behrens TW, Silverman ED, Alarcón-Riquelme ME, Kimberly RP, Harley JB, Wakeland EK, Graham RR, Gaffney PM, Vyse TJ. Transancestral mapping and genetic load in systemic lupus erythematosus. Nat Commun. 2017 07 17; 8:16021. PMID: 28714469.
      View in: PubMed
    5. Wei W, Ramos PS, Hunt KJ, Wolf BJ, Hardiman G, Chung D. GPA-MDS: A Visualization Approach to Investigate Genetic Architecture among Phenotypes Using GWAS Results. Int J Genomics. 2016; 2016:6589843. PMID: 27868058.
      View in: PubMed
    6. Ramos PS, Shedlock AM, Langefeld CD. Genetics of autoimmune diseases: insights from population genetics. J Hum Genet. 2015 Nov; 60(11):657-64. PMID: 26223182; PMCID: PMC4660050.
    7. Chung SA, Brown EE, Williams AH, Ramos PS, Berthier CC, Bhangale T, Alarcon-Riquelme ME, Behrens TW, Criswell LA, Graham DC, Demirci FY, Edberg JC, Gaffney PM, Harley JB, Jacob CO, Kamboh MI, Kelly JA, Manzi S, Moser-Sivils KL, Russell LP, Petri M, Tsao BP, Vyse TJ, Zidovetzki R, Kretzler M, Kimberly RP, Freedman BI, Graham RR, Langefeld CD. Lupus nephritis susceptibility loci in women with systemic lupus erythematosus. J Am Soc Nephrol. 2014 Dec; 25(12):2859-70. PMID: 24925725; PMCID: PMC4243339.
    8. Ramos PS, Shaftman SR, Ward RC, Langefeld CD. Genes associated with SLE are targets of recent positive selection. Autoimmune Dis. 2014; 2014:203435. PMID: 24587899; PMCID: PMC3920976.
    9. Ramos PS, Oates JC, Kamen DL, Williams AH, Gaffney PM, Kelly JA, Kaufman KM, Kimberly RP, Niewold TB, Jacob CO, Tsao BP, Alarcón GS, Brown EE, Edberg JC, Petri MA, Ramsey-Goldman R, Reveille JD, Vilá LM, James JA, Guthridge JM, Merrill JT, Boackle SA, Freedman BI, Scofield RH, Stevens AM, Vyse TJ, Criswell LA, Moser KL, Alarcón-Riquelme ME, Langefeld CD, Harley JB, Gilkeson GS. Variable association of reactive intermediate genes with systemic lupus erythematosus in populations with different African ancestry. J Rheumatol. 2013 Jun; 40(6):842-9. PMID: 23637325.
      View in: PubMed
    10. Ramos PS, Marion MC, Langefeld CD, Buyon JP, Clancy RM. Brief report: enrichment of associations in genes with fibrosis, apoptosis, and innate immunity functions with cardiac manifestations of neonatal lupus. Arthritis Rheum. 2012 Dec; 64(12):4060-5. PMID: 22886516; PMCID: PMC3541680.
    11. Thompson SD, Marion MC, Sudman M, Ryan M, Tsoras M, Howard TD, Barnes MG, Ramos PS, Thomson W, Hinks A, Haas JP, Prahalad S, Bohnsack JF, Wise CA, Punaro M, Rosé CD, Pajewski NM, Spigarelli M, Keddache M, Wagner M, Langefeld CD, Glass DN. Genome-wide association analysis of juvenile idiopathic arthritis identifies a new susceptibility locus at chromosomal region 3q13. Arthritis Rheum. 2012 Aug; 64(8):2781-91. PMID: 22354554.
      View in: PubMed
    12. Ramos PS, Sajuthi S, Langefeld CD, Walker SJ. Immune function genes CD99L2, JARID2 and TPO show association with autism spectrum disorder. Mol Autism. 2012 Jun 09; 3(1):4. PMID: 22681640; PMCID: PMC3439713.
    13. Lessard CJ, Adrianto I, Ice JA, Wiley GB, Kelly JA, Glenn SB, Adler AJ, Li H, Rasmussen A, Williams AH, Ziegler J, Comeau ME, Marion M, Wakeland BE, Liang C, Ramos PS, Grundahl KM, Gallant CJ, Alarcón-Riquelme ME, Alarcón GS, Anaya JM, Bae SC, Boackle SA, Brown EE, Chang DM, Cho SK, Criswell LA, Edberg JC, Freedman BI, Gilkeson GS, Jacob CO, James JA, Kamen DL, Kimberly RP, Kim JH, Martin J, Merrill JT, Niewold TB, Park SY, Petri MA, Pons-Estel BA, Ramsey-Goldman R, Reveille JD, Scofield RH, Song YW, Stevens AM, Tsao BP, Vila LM, Vyse TJ, Yu CY, Guthridge JM, Kaufman KM, Harley JB, Wakeland EK, Langefeld CD, Gaffney PM, Montgomery CG, Moser KL. Identification of IRF8, TMEM39A, and IKZF3-ZPBP2 as susceptibility loci for systemic lupus erythematosus in a large-scale multiracial replication study. Am J Hum Genet. 2012 Apr 06; 90(4):648-60. PMID: 22464253; PMCID: PMC3322228.
    14. Saxena A, McDonnell E, Ramos PS, Sajuthi S, Marion MC, Langefeld CD, Buyon JP, Clancy RM. Preferential transmission of genetic risk variants of candidate loci at 6p21 from asymptomatic grandparents to mothers of children with neonatal lupus. Arthritis Rheum. 2012 Mar; 64(3):931-9. PMID: 22031281; PMCID: PMC3270151.
    15. Ramos PS, Criswell LA, Moser KL, Comeau ME, Williams AH, Pajewski NM, Chung SA, Graham RR, Zidovetzki R, Kelly JA, Kaufman KM, Jacob CO, Vyse TJ, Tsao BP, Kimberly RP, Gaffney PM, Alarcón-Riquelme ME, Harley JB, Langefeld CD. A comprehensive analysis of shared loci between systemic lupus erythematosus (SLE) and sixteen autoimmune diseases reveals limited genetic overlap. PLoS Genet. 2011 Dec; 7(12):e1002406. PMID: 22174698; PMCID: PMC3234215.
    16. Ramos PS, Williams AH, Ziegler JT, Comeau ME, Guy RT, Lessard CJ, Li H, Edberg JC, Zidovetzki R, Criswell LA, Gaffney PM, Graham DC, Graham RR, Kelly JA, Kaufman KM, Brown EE, Alarcón GS, Petri MA, Reveille JD, McGwin G, Vilá LM, Ramsey-Goldman R, Jacob CO, Vyse TJ, Tsao BP, Harley JB, Kimberly RP, Alarcón-Riquelme ME, Langefeld CD, Moser KL. Genetic analyses of interferon pathway-related genes reveal multiple new loci associated with systemic lupus erythematosus. Arthritis Rheum. 2011 Jul; 63(7):2049-57. PMID: 21437871; PMCID: PMC3128183.
    17. Thompson SD, Sudman M, Ramos PS, Marion MC, Ryan M, Tsoras M, Weiler T, Wagner M, Keddache M, Haas JP, Mueller C, Prahalad S, Bohnsack J, Wise CA, Punaro M, Zhang D, Rosé CD, Comeau ME, Divers J, Glass DN, Langefeld CD. The susceptibility loci juvenile idiopathic arthritis shares with other autoimmune diseases extend to PTPN2, COG6, and ANGPT1. Arthritis Rheum. 2010 Nov; 62(11):3265-76. PMID: 20722033.
      View in: PubMed
    18. Clancy RM, Marion MC, Kaufman KM, Ramos PS, Adler A, Harley JB, Langefeld CD, Buyon JP. Identification of candidate loci at 6p21 and 21q22 in a genome-wide association study of cardiac manifestations of neonatal lupus. Arthritis Rheum. 2010 Nov; 62(11):3415-24. PMID: 20662065; PMCID: PMC3593718.
    19. Ramos PS, Brown EE, Kimberly RP, Langefeld CD. Genetic factors predisposing to systemic lupus erythematosus and lupus nephritis. Semin Nephrol. 2010 Mar; 30(2):164-76. PMID: 20347645; PMCID: PMC2847514.
    20. Ramos PS, Langefeld CD, Bera LA, Gaffney PM, Noble JA, Moser KL. Variation in the ATP-binding cassette transporter 2 gene is a separate risk factor for systemic lupus erythematosus within the MHC. Genes Immun. 2009 Jun; 10(4):350-5. PMID: 19387463; PMCID: PMC2927958.
    21. Harley JB, Alarcón-Riquelme ME, Criswell LA, Jacob CO, Kimberly RP, Moser KL, Tsao BP, Vyse TJ, Langefeld CD, Nath SK, Guthridge JM, Cobb BL, Mirel DB, Marion MC, Williams AH, Divers J, Wang W, Frank SG, Namjou B, Gabriel SB, Lee AT, Gregersen PK, Behrens TW, Taylor KE, Fernando M, Zidovetzki R, Gaffney PM, Edberg JC, Rioux JD, Ojwang JO, James JA, Merrill JT, Gilkeson GS, Seldin MF, Yin H, Baechler EC, Li QZ, Wakeland EK, Bruner GR, Kaufman KM, Kelly JA. Genome-wide association scan in women with systemic lupus erythematosus identifies susceptibility variants in ITGAM, PXK, KIAA1542 and other loci. Nat Genet. 2008 Feb; 40(2):204-10. PMID: 18204446; PMCID: PMC3712260.
    22. Ramos PS, Kelly JA, Gray-McGuire C, Bruner GR, Leiran AN, Meyer CM, Namjou B, Espe KJ, Ortmann WA, Reichlin M, Langefeld CD, James JA, Gaffney PM, Behrens TW, Harley JB, Moser KL. Familial aggregation and linkage analysis of autoantibody traits in pedigrees multiplex for systemic lupus erythematosus. Genes Immun. 2006 Jul; 7(5):417-32. PMID: 16775618.
      View in: PubMed
    23. Behrens TW, Graham RR, Kyogoku C, Baechler EC, Ramos PS, Gillett C, Bauer J, Ortmann WA, Hippen KL, Peterson E, Langefeld CD, Moser KL, Gaffney PM, Gregersen PK. Progress towards understanding the genetic pathogenesis of systemic lupus erythematosus. Novartis Found Symp. 2005; 267:145-60; discussion 160-4. PMID: 15999805.
      View in: PubMed
    24. Kyogoku C, Langefeld CD, Ortmann WA, Lee A, Selby S, Carlton VE, Chang M, Ramos P, Baechler EC, Batliwalla FM, Novitzke J, Williams AH, Gillett C, Rodine P, Graham RR, Ardlie KG, Gaffney PM, Moser KL, Petri M, Begovich AB, Gregersen PK, Behrens TW. Genetic association of the R620W polymorphism of protein tyrosine phosphatase PTPN22 with human SLE. Am J Hum Genet. 2004 Sep; 75(3):504-7. PMID: 15273934; PMCID: PMC1182029.
    25. Ramos PS, Dias D, Ponce de León FA. Molecular cytogenetic analysis of the chicken and red-legged partridge chromosome 4 repatterning. Anim Biotechnol. 1999; 10(3):123-6. PMID: 10721425.
      View in: PubMed
    26. Ramos PS, Bitgood JJ, Ponce de León FA. Novel chromosomal insertional translocation in chicken uncovered by double color FISH. Anim Biotechnol. 1999; 10(3):119-22. PMID: 10721424.
      View in: PubMed
    27. Benkel BF, Grunder AA, Ramos PS, Ponce de León FA. A diagnostic assay for the endogenous ALV-type provirus ALVE-B2 of broiler chickens. Anim Genet. 1998 Jun; 29(3):240. PMID: 9720190.
      View in: PubMed
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