The role of genetic variation near interferon-kappa in systemic lupus erythematosus

Isaac T.W. Harley; Timothy B. Niewold; Rebecca M. Stormont; Kenneth M. Kaufman; Stuart B. Glenn; Beverly S. Franek; Jennifer A. Kelly; Jeffrey R. Kilpatrick; David Hutchings; Jasmin Divers; Gail R. Bruner; Jeffrey C. Edberg; Gerald McGwin; Michelle A. Petri; Rosalind Ramsey-Goldman; John D. Reveille; Luis M. Vilá-Pérez; Joan T. Merrill; Gary S. Gilkeson; Timothy J. Vyse; Marta E. Alarcón-Riquelme; Soo Kyung Cho; Chaim O. Jacob; Graciela S. Alarcón; Kathy L. Moser; Patrick M. Gaffney; Robert P. Kimberly; Sang Cheol Bae; Carl D. Langefeld; John B. Harley; Joel M. Guthridge; Judith A. James

doi:10.1155/2010/706825

The role of genetic variation near interferon-kappa in systemic lupus erythematosus

Isaac T.W. Harley, Timothy B. Niewold, Rebecca M. Stormont, Kenneth M. Kaufman, Stuart B. Glenn, Beverly S. Franek, Jennifer A. Kelly, Jeffrey R. Kilpatrick, David Hutchings, Jasmin Divers, Gail R. Bruner, Jeffrey C. Edberg, Gerald McGwin, Michelle A. Petri, Rosalind Ramsey-Goldman, John D. Reveille, Luis M. Vilá-Pérez, Joan T. Merrill, Gary S. Gilkeson, Timothy J. VyseMarta E. Alarcón-Riquelme, Soo Kyung Cho, Chaim O. Jacob, Graciela S. Alarcón, Kathy L. Moser, Patrick M. Gaffney, Robert P. Kimberly, Sang Cheol Bae, Carl D. Langefeld, John B. Harley, Joel M. Guthridge, Judith A. James

Rheumatology

Research output: Contribution to journal › Article › peer-review

36 Scopus citations

Abstract

Systemic lupus erythematosus (SLE) is a systemic autoimmune disease characterized by increased type I interferons (IFNs) and multiorgan inflammation frequently targeting the skin. IFN-kappa is a type I IFN expressed in skin. A pooled genome-wide scan implicated the IFNK locus in SLE susceptibility. We studied IFNK single nucleotide polymorphisms (SNPs) in 3982 SLE cases and 4275 controls, composed of European (EA), African-American (AA), and Asian ancestry. rs12553951C was associated with SLE in EA males (odds ratio=1.93, P=2.5 10 ^-4), but not females. Suggestive associations with skin phenotypes in EA and AA females were found, and these were also sex-specific. IFNK SNPs were associated with increased serum type I IFN in EA and AA SLE patients. Our data suggest a sex-dependent association between IFNK SNPs and SLE and skin phenotypes. The serum IFN association suggests that IFNK variants could influence type I IFN producing plasmacytoid dendritic cells in affected skin.

Original language	English (US)
Article number	706825
Journal	Journal of Biomedicine and Biotechnology
Volume	2010
DOIs	https://doi.org/10.1155/2010/706825
State	Published - 2010

ASJC Scopus subject areas

Biotechnology
Molecular Medicine
Molecular Biology
Genetics
Health, Toxicology and Mutagenesis

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10.1155/2010/706825

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Harley, I. T. W., Niewold, T. B., Stormont, R. M., Kaufman, K. M., Glenn, S. B., Franek, B. S., Kelly, J. A., Kilpatrick, J. R., Hutchings, D., Divers, J., Bruner, G. R., Edberg, J. C., McGwin, G., Petri, M. A., Ramsey-Goldman, R., Reveille, J. D., Vilá-Pérez, L. M., Merrill, J. T., Gilkeson, G. S., ... James, J. A. (2010). The role of genetic variation near interferon-kappa in systemic lupus erythematosus. Journal of Biomedicine and Biotechnology, 2010, Article 706825. https://doi.org/10.1155/2010/706825

Harley, ITW, Niewold, TB, Stormont, RM, Kaufman, KM, Glenn, SB, Franek, BS, Kelly, JA, Kilpatrick, JR, Hutchings, D, Divers, J, Bruner, GR, Edberg, JC, McGwin, G, Petri, MA, Ramsey-Goldman, R, Reveille, JD, Vilá-Pérez, LM, Merrill, JT, Gilkeson, GS, Vyse, TJ, Alarcón-Riquelme, ME, Cho, SK, Jacob, CO, Alarcón, GS, Moser, KL, Gaffney, PM, Kimberly, RP, Bae, SC, Langefeld, CD, Harley, JB, Guthridge, JM & James, JA 2010, 'The role of genetic variation near interferon-kappa in systemic lupus erythematosus', Journal of Biomedicine and Biotechnology, vol. 2010, 706825. https://doi.org/10.1155/2010/706825

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title = "The role of genetic variation near interferon-kappa in systemic lupus erythematosus",

abstract = "Systemic lupus erythematosus (SLE) is a systemic autoimmune disease characterized by increased type I interferons (IFNs) and multiorgan inflammation frequently targeting the skin. IFN-kappa is a type I IFN expressed in skin. A pooled genome-wide scan implicated the IFNK locus in SLE susceptibility. We studied IFNK single nucleotide polymorphisms (SNPs) in 3982 SLE cases and 4275 controls, composed of European (EA), African-American (AA), and Asian ancestry. rs12553951C was associated with SLE in EA males (odds ratio=1.93, P=2.5 10 -4), but not females. Suggestive associations with skin phenotypes in EA and AA females were found, and these were also sex-specific. IFNK SNPs were associated with increased serum type I IFN in EA and AA SLE patients. Our data suggest a sex-dependent association between IFNK SNPs and SLE and skin phenotypes. The serum IFN association suggests that IFNK variants could influence type I IFN producing plasmacytoid dendritic cells in affected skin.",

author = "Harley, {Isaac T.W.} and Niewold, {Timothy B.} and Stormont, {Rebecca M.} and Kaufman, {Kenneth M.} and Glenn, {Stuart B.} and Franek, {Beverly S.} and Kelly, {Jennifer A.} and Kilpatrick, {Jeffrey R.} and David Hutchings and Jasmin Divers and Bruner, {Gail R.} and Edberg, {Jeffrey C.} and Gerald McGwin and Petri, {Michelle A.} and Rosalind Ramsey-Goldman and Reveille, {John D.} and Vil{\'a}-P{\'e}rez, {Luis M.} and Merrill, {Joan T.} and Gilkeson, {Gary S.} and Vyse, {Timothy J.} and Alarc{\'o}n-Riquelme, {Marta E.} and Cho, {Soo Kyung} and Jacob, {Chaim O.} and Alarc{\'o}n, {Graciela S.} and Moser, {Kathy L.} and Gaffney, {Patrick M.} and Kimberly, {Robert P.} and Bae, {Sang Cheol} and Langefeld, {Carl D.} and Harley, {John B.} and Guthridge, {Joel M.} and James, {Judith A.}",

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doi = "10.1155/2010/706825",

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AU - Harley, Isaac T.W.

AU - Niewold, Timothy B.

AU - Stormont, Rebecca M.

AU - Kaufman, Kenneth M.

AU - Glenn, Stuart B.

AU - Franek, Beverly S.

AU - Kelly, Jennifer A.

AU - Kilpatrick, Jeffrey R.

AU - Hutchings, David

AU - Divers, Jasmin

AU - Bruner, Gail R.

AU - Edberg, Jeffrey C.

AU - McGwin, Gerald

AU - Petri, Michelle A.

AU - Ramsey-Goldman, Rosalind

AU - Reveille, John D.

AU - Vilá-Pérez, Luis M.

AU - Merrill, Joan T.

AU - Gilkeson, Gary S.

AU - Vyse, Timothy J.

AU - Alarcón-Riquelme, Marta E.

AU - Cho, Soo Kyung

AU - Jacob, Chaim O.

AU - Alarcón, Graciela S.

AU - Moser, Kathy L.

AU - Gaffney, Patrick M.

AU - Kimberly, Robert P.

AU - Bae, Sang Cheol

AU - Langefeld, Carl D.

AU - Harley, John B.

AU - Guthridge, Joel M.

AU - James, Judith A.

PY - 2010

Y1 - 2010

N2 - Systemic lupus erythematosus (SLE) is a systemic autoimmune disease characterized by increased type I interferons (IFNs) and multiorgan inflammation frequently targeting the skin. IFN-kappa is a type I IFN expressed in skin. A pooled genome-wide scan implicated the IFNK locus in SLE susceptibility. We studied IFNK single nucleotide polymorphisms (SNPs) in 3982 SLE cases and 4275 controls, composed of European (EA), African-American (AA), and Asian ancestry. rs12553951C was associated with SLE in EA males (odds ratio=1.93, P=2.5 10 -4), but not females. Suggestive associations with skin phenotypes in EA and AA females were found, and these were also sex-specific. IFNK SNPs were associated with increased serum type I IFN in EA and AA SLE patients. Our data suggest a sex-dependent association between IFNK SNPs and SLE and skin phenotypes. The serum IFN association suggests that IFNK variants could influence type I IFN producing plasmacytoid dendritic cells in affected skin.

AB - Systemic lupus erythematosus (SLE) is a systemic autoimmune disease characterized by increased type I interferons (IFNs) and multiorgan inflammation frequently targeting the skin. IFN-kappa is a type I IFN expressed in skin. A pooled genome-wide scan implicated the IFNK locus in SLE susceptibility. We studied IFNK single nucleotide polymorphisms (SNPs) in 3982 SLE cases and 4275 controls, composed of European (EA), African-American (AA), and Asian ancestry. rs12553951C was associated with SLE in EA males (odds ratio=1.93, P=2.5 10 -4), but not females. Suggestive associations with skin phenotypes in EA and AA females were found, and these were also sex-specific. IFNK SNPs were associated with increased serum type I IFN in EA and AA SLE patients. Our data suggest a sex-dependent association between IFNK SNPs and SLE and skin phenotypes. The serum IFN association suggests that IFNK variants could influence type I IFN producing plasmacytoid dendritic cells in affected skin.

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JO - Journal of Biomedicine and Biotechnology

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The role of genetic variation near interferon-kappa in systemic lupus erythematosus

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