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Genome-wide association study identifies new susceptibility loci for cutaneous lupus erythematosus

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Genome-wide association study identifies new susceptibility loci for cutaneous lupus erythematosus. / Kunz, Manfred; König, Inke R; Schillert, Arne; Kruppa, Jochen; Ziegler, Andreas; Grallert, Harald; Müller-Nurasyid, Martina; Lieb, Wolfgang; Franke, Andre; Ranki, Annamari; Panelius, Jaana; Koskenmies, Sari; Hasan, Taina; Kere, Juha; Rönn, Ann-Charlotte; Simon, Jan C; Schmidt, Enno; Wenzel, Joerg; Tüting, Thomas; Landsberg, Jennifer; Zeller, Tanja; Blankenberg, Stefan; Gläser, Regine; Patsinakidis, Nikolaos; Kuhn, Annegret; Ibrahim, Saleh M.

In: EXP DERMATOL, Vol. 24, No. 7, 07.2015, p. 510-515.

Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

Harvard

Kunz, M, König, IR, Schillert, A, Kruppa, J, Ziegler, A, Grallert, H, Müller-Nurasyid, M, Lieb, W, Franke, A, Ranki, A, Panelius, J, Koskenmies, S, Hasan, T, Kere, J, Rönn, A-C, Simon, JC, Schmidt, E, Wenzel, J, Tüting, T, Landsberg, J, Zeller, T, Blankenberg, S, Gläser, R, Patsinakidis, N, Kuhn, A & Ibrahim, SM 2015, 'Genome-wide association study identifies new susceptibility loci for cutaneous lupus erythematosus', EXP DERMATOL, vol. 24, no. 7, pp. 510-515. https://doi.org/10.1111/exd.12708

APA

Kunz, M., König, I. R., Schillert, A., Kruppa, J., Ziegler, A., Grallert, H., Müller-Nurasyid, M., Lieb, W., Franke, A., Ranki, A., Panelius, J., Koskenmies, S., Hasan, T., Kere, J., Rönn, A-C., Simon, J. C., Schmidt, E., Wenzel, J., Tüting, T., ... Ibrahim, S. M. (2015). Genome-wide association study identifies new susceptibility loci for cutaneous lupus erythematosus. EXP DERMATOL, 24(7), 510-515. https://doi.org/10.1111/exd.12708

Vancouver

Kunz M, König IR, Schillert A, Kruppa J, Ziegler A, Grallert H et al. Genome-wide association study identifies new susceptibility loci for cutaneous lupus erythematosus. EXP DERMATOL. 2015 Jul;24(7):510-515. https://doi.org/10.1111/exd.12708

Bibtex

@article{c4f72a62f7a74bdc9b9c15eed7e455bb,
title = "Genome-wide association study identifies new susceptibility loci for cutaneous lupus erythematosus",
abstract = "Cutaneous lupus erythematosus (CLE) is a chronic autoimmune disease of the skin with typical clinical manifestations. Here, we genotyped 906 600 single nucleotide polymorphisms (SNPs) in 183 CLE cases and 1288 controls of Central European ancestry. Replication was performed for 13 SNPs in 219 case subjects and 262 controls from Finland. Association was particularly pronounced at 4 loci, all with genomewide significance (P < 5 × 10(-8) ): rs2187668 (PGWAS = 1.4 × 10(-12) ), rs9267531 (PGWAS = 4.7 × 10(-10) ), rs4410767 (PGWAS = 1.0 × 10(-9) ) and rs3094084 (PGWAS = 1.1 × 10(-9) ). All mentioned SNPs are located within the major histocompatibility complex (MHC) region of chromosome 6 and near genes of known immune functions or associations with other autoimmune diseases such as HLA-DQ alpha chain 1 (HLA-DQA1), MICA, MICB, MSH5, TRIM39 and RPP21. For example, TRIM39/RPP21 read through transcript is a known mediator of the interferon response, a central pathway involved in the pathogenesis of CLE and systemic lupus erythematosus (SLE). Taken together, this genomewide analysis of disease association of CLE identified candidate genes and genomic regions that may contribute to pathogenic mechanisms in CLE via dysregulated antigen presentation (HLA-DQA1), apoptosis regulation, RNA processing and interferon response (MICA, MICB, MSH5, TRIM39 and RPP21). ",
keywords = "Carrier Proteins/genetics, Case-Control Studies, Cell Cycle Proteins/genetics, Chromosomes, Human, Pair 6/genetics, Finland, Genetic Predisposition to Disease, Genome-Wide Association Study, Germany, HLA-DQ alpha-Chains/genetics, Histocompatibility Antigens Class I/genetics, Humans, Lupus Erythematosus, Cutaneous/genetics, Major Histocompatibility Complex, Polymorphism, Single Nucleotide, Ribonuclease P/genetics, Ubiquitin-Protein Ligases",
author = "Manfred Kunz and K{\"o}nig, {Inke R} and Arne Schillert and Jochen Kruppa and Andreas Ziegler and Harald Grallert and Martina M{\"u}ller-Nurasyid and Wolfgang Lieb and Andre Franke and Annamari Ranki and Jaana Panelius and Sari Koskenmies and Taina Hasan and Juha Kere and Ann-Charlotte R{\"o}nn and Simon, {Jan C} and Enno Schmidt and Joerg Wenzel and Thomas T{\"u}ting and Jennifer Landsberg and Tanja Zeller and Stefan Blankenberg and Regine Gl{\"a}ser and Nikolaos Patsinakidis and Annegret Kuhn and Ibrahim, {Saleh M}",
note = "{\textcopyright} 2015 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.",
year = "2015",
month = jul,
doi = "10.1111/exd.12708",
language = "English",
volume = "24",
pages = "510--515",
journal = "EXP DERMATOL",
issn = "0906-6705",
publisher = "Wiley-Blackwell",
number = "7",

}

RIS

TY - JOUR

T1 - Genome-wide association study identifies new susceptibility loci for cutaneous lupus erythematosus

AU - Kunz, Manfred

AU - König, Inke R

AU - Schillert, Arne

AU - Kruppa, Jochen

AU - Ziegler, Andreas

AU - Grallert, Harald

AU - Müller-Nurasyid, Martina

AU - Lieb, Wolfgang

AU - Franke, Andre

AU - Ranki, Annamari

AU - Panelius, Jaana

AU - Koskenmies, Sari

AU - Hasan, Taina

AU - Kere, Juha

AU - Rönn, Ann-Charlotte

AU - Simon, Jan C

AU - Schmidt, Enno

AU - Wenzel, Joerg

AU - Tüting, Thomas

AU - Landsberg, Jennifer

AU - Zeller, Tanja

AU - Blankenberg, Stefan

AU - Gläser, Regine

AU - Patsinakidis, Nikolaos

AU - Kuhn, Annegret

AU - Ibrahim, Saleh M

N1 - © 2015 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

PY - 2015/7

Y1 - 2015/7

N2 - Cutaneous lupus erythematosus (CLE) is a chronic autoimmune disease of the skin with typical clinical manifestations. Here, we genotyped 906 600 single nucleotide polymorphisms (SNPs) in 183 CLE cases and 1288 controls of Central European ancestry. Replication was performed for 13 SNPs in 219 case subjects and 262 controls from Finland. Association was particularly pronounced at 4 loci, all with genomewide significance (P < 5 × 10(-8) ): rs2187668 (PGWAS = 1.4 × 10(-12) ), rs9267531 (PGWAS = 4.7 × 10(-10) ), rs4410767 (PGWAS = 1.0 × 10(-9) ) and rs3094084 (PGWAS = 1.1 × 10(-9) ). All mentioned SNPs are located within the major histocompatibility complex (MHC) region of chromosome 6 and near genes of known immune functions or associations with other autoimmune diseases such as HLA-DQ alpha chain 1 (HLA-DQA1), MICA, MICB, MSH5, TRIM39 and RPP21. For example, TRIM39/RPP21 read through transcript is a known mediator of the interferon response, a central pathway involved in the pathogenesis of CLE and systemic lupus erythematosus (SLE). Taken together, this genomewide analysis of disease association of CLE identified candidate genes and genomic regions that may contribute to pathogenic mechanisms in CLE via dysregulated antigen presentation (HLA-DQA1), apoptosis regulation, RNA processing and interferon response (MICA, MICB, MSH5, TRIM39 and RPP21).

AB - Cutaneous lupus erythematosus (CLE) is a chronic autoimmune disease of the skin with typical clinical manifestations. Here, we genotyped 906 600 single nucleotide polymorphisms (SNPs) in 183 CLE cases and 1288 controls of Central European ancestry. Replication was performed for 13 SNPs in 219 case subjects and 262 controls from Finland. Association was particularly pronounced at 4 loci, all with genomewide significance (P < 5 × 10(-8) ): rs2187668 (PGWAS = 1.4 × 10(-12) ), rs9267531 (PGWAS = 4.7 × 10(-10) ), rs4410767 (PGWAS = 1.0 × 10(-9) ) and rs3094084 (PGWAS = 1.1 × 10(-9) ). All mentioned SNPs are located within the major histocompatibility complex (MHC) region of chromosome 6 and near genes of known immune functions or associations with other autoimmune diseases such as HLA-DQ alpha chain 1 (HLA-DQA1), MICA, MICB, MSH5, TRIM39 and RPP21. For example, TRIM39/RPP21 read through transcript is a known mediator of the interferon response, a central pathway involved in the pathogenesis of CLE and systemic lupus erythematosus (SLE). Taken together, this genomewide analysis of disease association of CLE identified candidate genes and genomic regions that may contribute to pathogenic mechanisms in CLE via dysregulated antigen presentation (HLA-DQA1), apoptosis regulation, RNA processing and interferon response (MICA, MICB, MSH5, TRIM39 and RPP21).

KW - Carrier Proteins/genetics

KW - Case-Control Studies

KW - Cell Cycle Proteins/genetics

KW - Chromosomes, Human, Pair 6/genetics

KW - Finland

KW - Genetic Predisposition to Disease

KW - Genome-Wide Association Study

KW - Germany

KW - HLA-DQ alpha-Chains/genetics

KW - Histocompatibility Antigens Class I/genetics

KW - Humans

KW - Lupus Erythematosus, Cutaneous/genetics

KW - Major Histocompatibility Complex

KW - Polymorphism, Single Nucleotide

KW - Ribonuclease P/genetics

KW - Ubiquitin-Protein Ligases

U2 - 10.1111/exd.12708

DO - 10.1111/exd.12708

M3 - SCORING: Journal article

C2 - 25827949

VL - 24

SP - 510

EP - 515

JO - EXP DERMATOL

JF - EXP DERMATOL

SN - 0906-6705

IS - 7

ER -