The Role of Genetic Variation Near Interferon-Kappa in Systemic Lupus Erythematosus

被引：44

作者：

Harley, Isaac T. W. ^{[3
,4
,5
,6
]}

Niewold, Timothy B. ^{[1
,2
]}

Stormont, Rebecca M. ^{[7
]}

Kaufman, Kenneth M. ^{[5
,8
]}

Glenn, Stuart B. ^{[5
]}

Franek, Beverly S. ^{[1
,2
]}

Kelly, Jennifer A. ^{[5
]}

Kilpatrick, Jeffrey R. ^{[5
]}

Hutchings, David ^{[5
]}

Divers, Jasmin ^{[9
]}

Bruner, Gail R. ^{[5
]}

Edberg, Jeffrey C. ^{[10
,11
,12
]}

McGwin, Gerald, Jr. ^{[10
,11
,12
]}

Petri, Michelle A. ^{[13
]}

Ramsey-Goldman, Rosalind ^{[14
]}

Reveille, John D. ^{[15
]}

Vila-Perez, Luis M. ^{[16
]}

Merrill, Joan T. ^{[17
]}

Gilkeson, Gary S. ^{[18
]}

Vyse, Timothy J. ^{[19
]}

Alarcon-Riquelme, Marta E. ^{[5
,20
,21
]}

Cho, Soo-Kyung ^{[22
]}

Jacob, Chaim O. ^{[23
]}

Alarcon, Graciela S. ^{[10
,11
,12
]}

Moser, Kathy L. ^{[5
]}

Gaffney, Patrick M. ^{[5
]}

Kimberly, Robert P. ^{[10
,11
,12
]}

Bae, Sang-Cheol ^{[22
]}

Langefeld, Carl D. ^{[9
]}

Harley, John B. ^{[5
,8
,24
,25
]}

Guthridge, Joel M. ^{[7
]}

James, Judith A. ^{[7
,24
,25
]}

机构：

[1] Univ Chicago, Rheumatol Sect, Chicago, IL 60637 USA

[2] Univ Chicago, Gwen Knapp Ctr Lupus & Immunol Res, Chicago, IL 60637 USA

[3] Cincinnati Childrens Hosp Res Fdn, Div Mol Immunol, Cincinnati, OH 45267 USA

[4] Cincinnati Childrens Hosp Res Fdn, Grad Program Immunobiol, Cincinnati, OH 45267 USA

[5] Oklahoma Med Res Fdn, Arthrit & Immunol Program, Oklahoma City, OK 73104 USA

[6] Univ Cincinnati, Phys Scientist Training Program, Cincinnati, OH 45267 USA

[7] Oklahoma Med Res Fdn, Clin Immunol Program, Oklahoma City, OK 73104 USA

[8] US Dept Vet Affairs Med Ctr Oklahoma City, Dept Med, Oklahoma City, OK 73104 USA

[9] Wake Forest Univ Hlth Sci, Dept Biostat Sci, Winston Salem, NC 27106 USA

[10] Univ Alabama Birmingham, Dept Med, Birmingham, AL 35294 USA

[11] Univ Alabama Birmingham, Dept Epidemiol, Birmingham, AL 35294 USA

[12] Univ Alabama Birmingham, Dept Surg, Birmingham, AL 35294 USA

[13] Johns Hopkins Univ, Sch Med, Baltimore, MD 21205 USA

[14] Northwestern Univ, Feinberg Sch Med, Dept Med, Div Rheumatol, Chicago, IL 60611 USA

[15] Univ Texas Hlth Sci Ctr Houston, Dept Rheumatol & Clin Immunogenet, Houston, TX 77030 USA

[16] Univ Puerto Rico, Rheumatol Sect, San Juan, PR 00921 USA

[17] Oklahoma Med Res Fdn, Clin Pharmacol Program, Oklahoma City, OK 73104 USA

[18] Med Univ S Carolina, Dept Med, Div Rheumatol, Charleston, SC 29425 USA

[19] Hammersmith Hosp, Imperial Coll, Rheumatol Sect, London W12 0HS, England

[20] Uppsala Univ, Rudbeck Lab, Dept Genet & Pathol, S-75105 Uppsala, Sweden

[21] Univ Granada, Andalucian Ctr Genom & Oncol Res Pfizer, Granada 1807, Spain

[22] Hanyang Univ, Hosp Rheumat Dis, Dept Rheumatol, Seoul 133791, South Korea

[23] Univ So Calif, Div Gastrointestinal & Liver Dis, Los Angeles, CA 90089 USA

[24] Univ Oklahoma, Hlth Sci Ctr, Dept Med, Oklahoma City, OK 73104 USA

[25] Univ Oklahoma, Hlth Sci Ctr, Dept Pathol, Oklahoma City, OK 73104 USA

来源：

JOURNAL OF BIOMEDICINE AND BIOTECHNOLOGY | 2010年

基金：

英国惠康基金; 新加坡国家研究基金会;

关键词：

WIDE ASSOCIATION SCAN; PHASE-I TRIAL; ALPHA ACTIVITY; MONOCLONAL-ANTIBODY; REVISED CRITERIA; IFN-ALPHA; CLASSIFICATION; CELLS; IIFN; TNF;

D O I：

10.1155/2010/706825

中图分类号：

Q81 [生物工程学（生物技术）]; Q93 [微生物学];

学科分类号：

071005 ; 0836 ; 090102 ; 100705 ;

摘要：

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 x 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.

引用

页数：11

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