Scientific Publications

- 2008 -

Sawalha AH, Webb R, Han S, Kelly JA, Kaufman KM, Kimberly RP, Alarcón-Riquelme ME, James JA, Vyse TJ, Gilkeson GS, Choi CB, Scofield RH, Bae SC, Nath SK, Harley JB. “Common variants within MECP2 confer risk of systemic lupus erythematosus.” PLoS ONE. 2008 Mar; 3(3):e1727.

Bautista JF, Kelly JA, Harley JB, Gray-McGuire C. “Addressing genetic heterogeneity in complex disease: finding seizure genes in systemic lupus erythematosus.” Epilepsia. 2008 Mar; 49(3):527-30. 

Kelly JA, Kelley JM, Kaufman KM, Kilpatrick J, Bruner GR, Merrill JT, James JA, Frank SG, Reams E, Brown EE, Gibson AW, Marion MC, Langefeld CD, Li QZ, Karp DR, Wakeland EK, Petri M, Ramsey-Goldman R, Reveille JD, Vilá LM, Alarcón GS, Kimberly RP, Harley JB, Edberg JC. “Interferon regulatory factor-5 is genetically associated with systemic lupus erythematosus in African Americans.” Genes Immun. 2008 Feb.

International Consortium for Systemic Lupus Erythematosus Genetics (SLEGEN), 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 Jan; 40(2):204-10.

Nath SK, Han S, Kim-Howard X, Kelly JA, Viswanathan P, Gilkeson GS, Chen W, Zhu C, McEver RP, Kimberly RP, Alarcón-Riquelme ME, Vyse TJ, Li QZ, Wakeland EK, Merrill JT, James JA, Kaufman KM, Guthridge JM, Harley JB. “A nonsynonymous functional variant in integrin-alpha(M) (encoded by ITGAM) is associated with systemic lupus erythematosus.” Nat Genet. 2008 Jan; 40(2):152-4.

Edberg JC, Wu J, Langefeld CD, Brown EE, Marion MC, McGwin G, Petri M, Ramsey-Goldman R, Reveille JD, Frank SG, Kaufman KM, Harley JB, Alarcón GS, Kimberly RP. “Genetic variation in the CRP promoter: association with systemic lupus erythematosus (SLE).” Hum Mol Genet. 2008 Jan.

- 2007 -

Namjou B, Kilpatrick J, Harley JB. “Genetics of clinical expression in SLE.” Autoimmunity. 2007 Dec; 40(8):602-12.

Malik S, Bruner GR, Williams-Weese C, Feo L, Scofield RH, Reichlin M, Harley JB, Sawalha AH. “Presence of anti-La autoantibody is associated with a lower risk of nephritis and seizures in lupus patients.” Lupus. 2007; 16(11):863-6.

Bouali H, Nietert P, Nowling TM, Pandey J, Dooley MA, Cooper G, Harley J, Kamen DL, Oates J, Gilkeson G. “Association of the G-463a myeloperoxidase gene polymorphism with renal disease in African Americans with systemic lupus erythematosus.” J Rheumatol. 2007 Sep; 34(10):2028-34.

Sawalha AH, Kaufman KM, Kelly JA, Adler AJ, Aberle T, Kilpatrick J, Wakeland EK, Li QZ, Wandstrat AE, Karp DS, James JA, Merrill JT, Lipsky P, Harley JB. “Genetic association of IL-21 polymorphisms with systemic lupus erythematosus.” Ann Rheum Dis. 2007 Aug.

Graham RR, Ortmann W, Rodine P, Espe K, Langefeld C, Lange E, Williams A, Beck S, Kyogoku C, Moser K, Gaffney P, Gregersen PK, Criswell LA, Harley JB, Behrens TW. “Specific combinations of HLA-DR2 and DR3 class II haplotypes contribute graded risk for disease susceptibility and autoantibodies in human SLE.” Eur J Hum Genet. 2007 Aug; 15(8):823-30.

Niewold TB, Hua J, Lehman TJ, Harley JB, Crow MK. “High serum IFN-alpha activity is a heritable risk factor for systemic lupus erythematosus.” Genes Immun. 2007 Jun; 8(6):492-502.

Scofield RH, Bruner GR, Harley JB, Namjou B. “Autoimmune thyroid disease is associated with a diagnosis of secondary Sjögren's syndrome in familial systemic lupus.” Ann Rheum Dis. 2007 Mar; 66(3):410-3.

Lee YH, Ota F, Kim-Howard X, Kaufman KM, Nath SK. “APRIL polymorphism and systemic lupus erythematosus (SLE) susceptibility.” Rheumatology. 2007 Jan; 46(8):1274-6.

Lee YH, Rho YH, Choi SJ, Ji JD, Song GG, Nath SK, Harley JB. “The PTPN22 C1858T functional polymorphism and autoimmune diseases--a meta-analysis.” Rheumatology. 2007 Jan; 46(1):49-56.

Xing C, Sestak AL, Kelly JA, Nguyen KL, Bruner GR, Harley JB, Gray-McGuire C. “Localization and replication of the systemic lupus erythematosus linkage signal at 4p16: interaction with 2p11, 12q24 and 19q13 in European Americans.” Hum Genet. 2007 Jan; 120(5):623-31.

- 2006 -

Harley JB, Kelly JA, Kaufman KM. “Unraveling the genetics of systemic lupus erythematosus.” Springer Semin Immunopathol. 2006 Oct; 28(2):119-30.

Forabosco P, Gorman JD, Cleveland C, Kelly JA, Fisher SA, Ortmann WA, Johansson C, Johanneson B, Moser KL, Gaffney PM, Tsao BP, Cantor RM, Alarcon-Riquelme ME, Behrens TW, Harley JB, Lewis CM, Criswell LA. “Meta-analysis of genome-wide linkage studies of systemic lupus erythematosus.” Genes Immun. 2006 Oct; 7(7):609-14.

Kaufman KM, Kelly JA, Herring BJ, Adler AJ, Glenn SB, Namjou B, Frank SG, Dawson SL, Bruner GR, James JA, Harley JB. “Evaluation of the genetic association of the PTPN22 R620W polymorphism in familial and sporadic systemic lupus erythematosus.” Arthritis Rheum. 2006 Aug; 54(8):2533-40.

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.

Lee YH, Harley JB, Nath SK. “Meta-analysis of TNF-alpha promoter -308 A/G polymorphism and SLE susceptibility.” Eur J Hum Genet. 2006 Mar; 14(3):364-71.

- 2005 -

Nolsoe RL, Kelly JA, Pociot F, Moser KL, Kristiansen OP, Mandrup-Poulsen T, Harley JB. “Functional promoter haplotypes of the human FAS gene are associated with the phenotype of SLE characterized by thrombocytopenia.” Genes Immun. 2005 Dec; 6(8):699-706.

Xing C, Gray-McGuire C, Kelly JA, Garriott P, Bukulmez H, Harley JB, Olson JM. “Genetic linkage of systemic lupus erythematosus to 13q32 in African American families with affected male members.” Hum Genet. 2005 Dec; 118(3-4):309-21.

Lee YH, Witte T, Momot T, Schmidt RE, Kaufman KM, Harley JB, Sestak AL. “The mannose-binding lectin gene polymorphisms and systemic lupus erythematosus: two case-control studies and a meta-analysis.” Arthritis Rheum. 2005 Dec; 52(12):3966-74.

Namjou B, Kelly JA, Kilpatrick J, Kaufman KM, Nath SK, Scofield RH, Harley JB. “Linkage at 5q14.3-15 in multiplex systemic lupus erythematosus pedigrees stratified by autoimmune thyroid disease.” Arthritis Rheum. 2005 Nov; 52(11):3646-50.

Sestak AL, Nath SK, Harley JB. “Genetics of systemic lupus erythematosus: how far have we come?” Rheum Dis Clin North Am. 2005 May; 31(2):223-44.

Kochi Y, Yamada R, Suzuki A, Harley JB, Shirasawa S, Sawada T, Bae SC, Tokuhiro S, Chang X, Sekine A, Takahashi A, Tsunoda T, Ohnishi Y, Kaufman KM, Kang CP, Kang C, Otsubo S, Yumura W, Mimori A, Koike T, Nakamura Y, Sasazuki T, Yamamoto K. “A functional variant in FCRL3, encoding Fc receptor-like 3, is associated with rheumatoid arthritis and several autoimmunities.” Nat Genet. 2005 May; 37(5):478-85. Erratum in: Nat Genet. 2005 Jun; 37(6):652.

Lee YH, Harley JB, Nath SK. “CTLA-4 polymorphisms and systemic lupus erythematosus (SLE): a meta-analysis.” Hum Genet. 2005 Apr; 116(5):361-7.

- 2004 -

Nath SK, Kilpatrick J, Harley JB. “Genetics of human systemic lupus erythematosus: the emerging picture.” Curr Opin Immunol. 2004 Dec;16(6):794-800.

Sawalha AH, Harley JB. “Antinuclear autoantibodies in systemic lupus erythematosus.” Curr Opin Rheumatol. 2004 Sep;16(5):534-40.

Nath SK, Namjou B, Hutchings D, Garriott CP, Pongratz C, Guthridge J, James JA. “Systemic lupus erythematosus (SLE) and chromosome 16: confirmation of linkage to 16q12-13 and evidence for genetic heterogeneity.” Eur J Hum Genet. 2004 Aug; 12(8):668-72. Erratum in: Eur J Hum Genet. 2004 Aug; 12(8):688.

Sawalha AH, Schmid WR, Binder SR, Bacino DK, Harley JB. “Association between systemic lupus erythematosus and Helicobacter pylori seronegativity. J Rheumatol. 2004 Aug; 31(8):1546-50.

Quintero-del-Rio AI, Kelly JA, Garriott CP, Hutchings DC, Frank SG, Aston CE, Harley JB. “SLEN2 (2q34-35) and SLEN1 (10q22.3) replication in systemic lupus erythematosus stratified by nephritis.” Am J Hum Genet. 2004 Aug;75(2):346-8.

Nath SK, Kelly JA, Harley JB, Scofield RH. “Mapping the systematic lupus erythematosus susceptibility genes.” Methods Mol Med. 2004;102:11-30.

Nath SK, Namjou B, Garriott CP, Frank S, Joslin PA, Kilpatrick J, Kelly JA, Harley JB. "Linkage analysis of SLE susceptibility: confirmation of SLER` at 5p15.3." Genes Immun, 2004 May; 5(3):209-14.

Nath SK, Namjou B, Kilpatrick J, Garriott CP, Bruner GR, Scofield RH, Harley JB. "A candidate region on 11p13 for systemic lupus erythematosus: a linkage identified in African American families." J Investig Dermatol Symp Proc, 2004 Jan; 9(1):64-7.

Nath SK, Quintero-Del-Rio AI, Kilpatrick J, Feo L, Ballesteros M, Harley JB. "Linkage at 12q24 with systemic lupus erythematosus (SLE) is established and confirmed in Hispanic and European American families." Am J Hum Genet, 2004 Jan; 74(1):73-82.

- 2003 -

Heinlen LD, McClain MT, Kim X, Quintero DR, James JA, Harley JB, Scofield RH. "Anti-Ro and anti-nRNP response in unaffected family members of SLE patients." Lupus, 2003; 3;12(4):335-337.

Scofield RH, Bruner GR, Kelly JA, Kilpatrick J, Bacino D, Nath SK, Harley JB. "Thrombocytopenia identifies a severe familial phenotype of systemic lupus erythematosus and reveals genetic linkages at 1q22 and 11p13." Blood. 2003 Feb 1;101(3):992-7.

- 2002 -

Prokunina L, Castillejo-Lopez C, Oberg F, Gunnarsson I, Berg L, Magnusson V, Brookes AJ, Tentler D, Kristjansdóttir H, Gröndal G, Bolstad AI, Svenungsson E, Lundberg I, Sturfelt G, Jönssen A, Truedsson L, Lima G, Alcocer-Varela J, Jonsson R, Gyllensten UB, Harley JB, Alarcón-Segovia D, Steinsson K, Alarcón-Riquelme ME. “A regulatory polymorphism in PDCD1 is associated with susceptibility to systemic lupus erythematosus in humans.” Nat Genet. 2002 Dec; 32:666-9.

Kaufman KM, Rankin J, Harley IT, Kelly JA, Harley JB, Scofield RH. “A genetic marker within the CD44 gene confirms linkage at 11p13 in African American families with lupus stratified by thrombocytopenia, but genetic association with CD44 is not present.” Genes Immun. 2002 Oct; 3(Suppl 1):S86-8.

Kelly JA, Moser KL, Harley JB. “The genetics of systemic lupus erythematosus: putting the pieces together.” Genes Immun. 2002 Oct; 3(Suppl 1):S71-85.

Quintero-Del-Rio AI, Kelly JA, Kilpatrick J, James JA, Harley JB. “The genetics of systemic lupus erythematosus stratified by renal disease: linkage at 10q22.3 (SLEN1), 2q34-35 (SLEN2), and 11p15.6 (SLEN3).” Genes Immun. 2002 Oct; 3(Suppl 1):S57-62.

Namjou B, Nath SK, Kilpatrick J, Kelly JA, Reid J, Reichlin M, James JA, Harley JB. “Genome scan stratified by the presence of anti-double-stranded DNA (dsDNA) autoantibody in pedigrees multiplex for systemic lupus erythematosus (SLE) establishes linkages at 19p13.2 (SLED1) and 18q21.1 (SLED2).” Genes Immun. 2002 Oct; 3(Suppl 1):S35-41.

Sawalha AH, Namjou B, Nath SK, Kilpatrick J, Germundson A, Kelly JA, Hutchings D, James J, Harley JB. “Genetic linkage of systemic lupus erythematosus with chromosome 11q14 (SLEH1) in African American families stratified by a nucleolar antinuclear antibody pattern.” Genes Immun. 2002 Oct; 3(Suppl 1):S31-4.

Olson JM, Song Y, Dudek DM, Moser KL, Kelly JA, Bruner GR, Downing KJ, Berry CK, James JA, Harley JB. “A genome screen of systemic lupus erythematosus using affected-relative-pair linkage analysis with covariates demonstrates genetic heterogeneity.” Genes Immun. 2002 Oct; 3(Suppl 1):S5-12.

Harley JB. “The genetic etiology of systemic lupus erythematosus: a short dispatch from the combat zone.” Genes Immun. 2002 Oct; 3(Suppl 1):S1-4.

Tsao BP, Grossman JM, Riemekasten G, Strong N, Kalsi J, Wallace DJ, Chen CJ, Lau CS, Ginzler EM, Goldstein R, Kalunian KC, Harley JB, Arnett FC, Hahn BH, Cantor RM. “Familiality and co-occurrence of clinical features of systemic lupus erythematosus.” Arthritis Rheum. 2002 Oct; 46(10):2678-85.

Kelly JA, Thompson K, Kilpatrick J, Lam T, Nath SK, Gray-McGuire C, Reid J, Namjou B, Aston CE, Bruner GR, Scofield RH, Harley JB. “Evidence for a susceptibility gene (SLEH1) on chromosome 11q14 for systemic lupus erythematosus (SLE) families with hemolytic anemia.” Proc Natl Acad Sci. 2002 Sep; 99(18):11766-71.

Edberg JC, Langefeld CD, Wu J, Moser KL, Kaufman KM, Kelly J, Bansal V, Brown WM, Salmon JE, Rich SS, Harley JB, Kimberly RP. “Genetic linkage and association of Fc gamma receptor IIIA (CD16A) on chromosome 1q23 with human systemic lupus erythematosus.” Arthritis Rheum. 2002 Aug; 46(8):2132-40.

Harley JB, Kelly JA. “Genetic basis of systemic lupus erythematosus: a review of the unique genetic contributions in African Americans.” J Natl Med Assoc. 2002 Aug; 94(8):670-7.

Namjou B, Nath SK, Kilpatrick J, Kelly JA, Reid J, James JA, Harley JB. “Stratification of pedigrees multiplex for systemic lupus erythematosus and for self-reported rheumatoid arthritis detects a systemic lupus erythematosus susceptibility gene (SLER1) at 5p15.3.” Arthritis Rheum. 2002 Nov; 46(11):2937-45.

Nath SK, Kelly JA, Reid J, Lam T, Gray-McGuire C, Namjou B, Aston CE, Harley JB. “SLEB3 in systemic lupus erythematosus (SLE) is strongly related to SLE families ascertained through neuropsychiatric manifestations.” Hum Genet. 2002 Jul; 111:54-8.

Stein CM, Olson JM, Gray-McGuire C, Bruner GR, Harley JB, Moser KL. “Increased prevalence of renal disease in systemic lupus erythematosus families with affected male relatives.” Arthritis Rheum. 2002 Feb; 46:428-35.

- 2001 -

Nath SK, Kelly JA, Namjou B, Lam T, Bruner GR, Scofield RH, Aston CE, Harley JB. “Evidence for a susceptibility gene, SLEV1, on chromosome 17p13 for vitiligo-related systemic lupus erythematosus.” Am J Hum Genet. 2001 Dec; 69(6):1401-6.

Rao S, Olson JM, Moser KL, Gray-McGuire C, Bruner GR, Kelly J, Harley JB. “Linkage analysis of human systemic lupus erythematosus-related traits: a principal component approach.” Arthritis Rheum. 2001 Dec; 44(12):2807-18.

Quintero-Del-Rio AI, Bacino D, Kelly J, Aberle T, Harley JB. “Familial systemic lupus erythematosus: a comparison of clinical manifestations and antibody presentation in three ethnic groups.” Cell Mol Biol. 2001 Nov; 47(7):1223-7.

James JA, Neas BR, Moser KL, Hall T, Bruner GR, Sestak AL, Harley JB. “Systemic lupus erythematosus in adults is associated with previous Epstein-Barr virus exposure.” Arthritis Rheum. 2001 May; 44(5):1122-6.

Kaufman KM, Kelly J, Gray-McGuire C, Asundi N, Yu H, Reid J, Baird T, Hutchings D, Bruner G, Scofield RH, Moser K, Harley JB. “Linkage analysis of angiotensin-converting enzyme (ACE) insertion/deletion polymorphism and systemic lupus erythematosus.” Mol Cell Endocrinol. 2001 May; 177(1-2):81-5

- 2000 -

Gray-McGuire C, Moser KL, Gaffney PM, Kelly J, Yu H, Olson JM, Jedrey CM, Jacobs KB, Kimberly RP, Neas BR, Rich SS, Behrens TW, Harley JB. ”Genome scan of human systemic lupus erythematosus by regression modeling: evidence of linkage and epistasis at 4p16-15.2." Am J Hum Genet. 2000 Dec; 67(6):1460-9.

Criswell LA, Moser KL, Gaffney PM, Inda S, Ortmann W, Lin D, Chen JJ, Li H, Gray-McGuire C, Neas BR, Rich SS, Harley JB, Behrens TW, Seldin MF. “PARP alleles and SLE: failure to confirm association with disease susceptibility.” J Clin Invest. 2000 Jun; 105(11):1501-2.

- 1999 -

Moser KL, Gray-McGuire C, Kelly J, Asundi N, Yu H, Bruner GR, Mange M, Hogue R, Neas BR, Harley JB. “Confirmation of genetic linkage between human systemic lupus erythematosus and chromosome 1q41.” Arthritis Rheum. 1999 Sep; 42(9):1902-7.

Sestak AL, Shaver TS, Moser KL, Neas BR, Harley JB. “Familial aggregation of lupus and autoimmunity in an unusual multiplex pedigree.” J Rheumatol. 1999 Jul; 26(7):1495-9.

- 1998 -

Harley JB, Moser KL, Gaffney PM, Behrens TW. “The genetics of human systemic lupus erythematosus.” Curr Opin Immunol. 1998 Dec; 10(6):690-6.

Moser KL, Neas BR, Salmon JE, Yu H, Gray-McGuire C, Asundi N, Bruner GR, Fox J, Kelly J, Henshall S, Bacino D, Deitz M, Hogue R, Koelsch G, Nightingale L, Shaver T, Abdou NI, Albert DA, Carson C, Petri M, Treadwell EL, James JA, Harley JB. “Genome scan of human systemic lupus erythematosus: evidence for linkage on chromosome 1q in African American pedigrees.” Proc Natl Acad Sci. 1998 Dec; 95(25):14869-74.