Genome-Wide Association Study of African and European Americans Implicates Multiple Shared and Ethnic Specific Loci in Sarcoidosis Susceptibility

被引：94

作者：

Adrianto, Indra ^{[1
]}

Lin, Chee Paul ^{[1
]}

Hale, Jessica J. ^{[1
]}

Levin, Albert M. ^{[2
]}

Datta, Indrani ^{[2
]}

Parker, Ryan ^{[1
]}

Adler, Adam ^{[1
]}

Kelly, Jennifer A. ^{[1
]}

Kaufman, Kenneth M. ^{[3
,4
]}

Lessard, Christopher J. ^{[1
,5
]}

Moser, Kathy L. ^{[1
,5
]}

Kimberly, Robert P. ^{[6
]}

Harley, John B. ^{[3
,4
]}

Iannuzzi, Michael C. ^{[7
]}

Rybicki, Benjamin A. ^{[2
]}

Montgomery, Courtney G. ^{[1
]}

机构：

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

[2] Henry Ford Hlth Syst, Dept Publ Hlth Sci, Detroit, MI USA

[3] Cincinnati Childrens Hosp Med Ctr, Div Rheumatol, Cincinnati, OH USA

[4] United States Dept Vet Affairs Med Ctr, Cincinnati, OH USA

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

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

[7] SUNY Upstate Med Univ, Dept Med, Syracuse, NY USA

来源：

PLOS ONE | 2012年 / 7卷 / 08期

基金：

美国国家卫生研究院;

关键词：

MAJOR HISTOCOMPATIBILITY COMPLEX; MHC CLASS-II; ENDOTHELIAL-CELLS; FUNCTIONAL VARIANT; LUNG DEVELOPMENT; BTNL2; GENE; RISK LOCI; NOTCH; LINKAGE; DMBT1;

D O I：

10.1371/journal.pone.0043907

中图分类号：

O [数理科学和化学]; P [天文学、地球科学]; Q [生物科学]; N [自然科学总论];

学科分类号：

07 ; 0710 ; 09 ;

摘要：

Sarcoidosis is a systemic inflammatory disease characterized by the formation of granulomas in affected organs. Genome-wide association studies (GWASs) of this disease have been conducted only in European population. We present the first sarcoidosis GWAS in African Americans (AAs, 818 cases and 1,088 related controls) followed by replication in independent sets of AAs (455 cases and 557 controls) and European Americans (EAs, 442 cases and 2,284 controls). We evaluated >6 million SNPs either genotyped using the Illumina Omni1-Quad array or imputed from the 1000 Genomes Project data. We identified a novel sarcoidosis-associated locus, NOTCH4, that reached genome-wide significance in the combined AA samples (rs715299, PAA-meta = 6.51 x 10(-10)) and demonstrated the independence of this locus from others in the MHC region in the same sample. We replicated previous European GWAS associations within HLA-DRA, HLA-DRB5, HLA-DRB1, BTNL2, and ANXA11 in both our AA and EA datasets. We also confirmed significant associations to the previously reported HLA-C and HLA-B regions in the EA but not AA samples. We further identified suggestive associations with several other genes previously reported in lung or inflammatory diseases.

引用

页数：10

共 100 条

[1] Association of a functional variant downstream of TNFAIP3 with systemic lupus erythematosus [J].

Adrianto, Indra ;

Wen, Feng ;

Templeton, Amanda ;

Wiley, Graham ;

King, Jarrod B. ;

Lessard, Christopher J. ;

Bates, Jared S. ;

Hu, Yanqing ;

Kelly, Jennifer A. ;

Kaufman, Kenneth M. ;

Guthridge, Joel M. ;

Alarcon-Riquelme, Marta E. ;

Anaya, Juan-Manuel ;

Bae, Sang-Cheol ;

Bang, So-Young ;

Boackle, Susan A. ;

Brown, Elizabeth E. ;

Petri, Michelle A. ;

Gallant, Caroline ;

Ramsey-Goldman, Rosalind ;

Reveille, John D. ;

Vila, Luis M. ;

Criswell, Lindsey A. ;

Edberg, Jeffrey C. ;

Freedman, Barry I. ;

Gregersen, Peter K. ;

Gilkeson, Gary S. ;

Jacob, Chaim O. ;

James, Judith A. ;

Kamen, Diane L. ;

Kimberly, Robert P. ;

Martin, Javier ;

Merrill, Joan T. ;

Niewold, Timothy B. ;

Park, So-Yeon ;

Pons-Estel, Bernardo A. ;

Scofield, R. Hal ;

Stevens, Anne M. ;

Tsao, Betty P. ;

Vyse, Timothy J. ;

Langefeld, Carl D. ;

Harley, John B. ;

Moser, Kathy L. ;

Webb, Carol F. ;

Humphrey, Mary Beth ;

Montgomery, Courtney Gray ;

Gaffney, Patrick M. .

NATURE GENETICS, 2011, 43 (03) :253-U102

[2] Autoantibodies in celiac disease [J].

Alaedini, Armin ;

Green, Peter H. R. .

AUTOIMMUNITY, 2008, 41 (01) :19-26

[3] A map of human genome variation from population-scale sequencing [J].

Altshuler, David ;

Durbin, Richard M. ;

Abecasis, Goncalo R. ;

Bentley, David R. ;

Chakravarti, Aravinda ;

Clark, Andrew G. ;

Collins, Francis S. ;

De la Vega, Francisco M. ;

Donnelly, Peter ;

Egholm, Michael ;

Flicek, Paul ;

Gabriel, Stacey B. ;

Gibbs, Richard A. ;

Knoppers, Bartha M. ;

Lander, Eric S. ;

Lehrach, Hans ;

Mardis, Elaine R. ;

McVean, Gil A. ;

Nickerson, DebbieA. ;

Peltonen, Leena ;

Schafer, Alan J. ;

Sherry, Stephen T. ;

Wang, Jun ;

Wilson, Richard K. ;

Gibbs, Richard A. ;

Deiros, David ;

Metzker, Mike ;

Muzny, Donna ;

Reid, Jeff ;

Wheeler, David ;

Wang, Jun ;

Li, Jingxiang ;

Jian, Min ;

Li, Guoqing ;

Li, Ruiqiang ;

Liang, Huiqing ;

Tian, Geng ;

Wang, Bo ;

Wang, Jian ;

Wang, Wei ;

Yang, Huanming ;

Zhang, Xiuqing ;

Zheng, Huisong ;

Lander, Eric S. ;

Altshuler, David L. ;

Ambrogio, Lauren ;

Bloom, Toby ;

Cibulskis, Kristian ;

Fennell, Tim J. ;

Gabriel, Stacey B. .

NATURE, 2010, 467 (7319) :1061-1073

[4] Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47 [J].

Anderson, Carl A. ;

Boucher, Gabrielle ;

Lees, Charlie W. ;

Franke, Andre ;

D'Amato, Mauro ;

Taylor, Kent D. ;

Lee, James C. ;

Goyette, Philippe ;

Imielinski, Marcin ;

Latiano, Anna ;

Lagace, Caroline ;

Scott, Regan ;

Amininejad, Leila ;

Bumpstead, Suzannah ;

Baidoo, Leonard ;

Baldassano, Robert N. ;

Barclay, Murray ;

Bayless, Theodore M. ;

Brand, Stephan ;

Buening, Carsten ;

Colombel, Jean-Frederic ;

Denson, Lee A. ;

De Vos, Martine ;

Dubinsky, Marla ;

Edwards, Cathryn ;

Ellinghaus, David ;

Fehrmann, Rudolf S. N. ;

Floyd, James A. B. ;

Florin, Timothy ;

Franchimont, Denis ;

Franke, Lude ;

Georges, Michel ;

Glas, Juergen ;

Glazer, Nicole L. ;

Guthery, Stephen L. ;

Haritunians, Talin ;

Hayward, Nicholas K. ;

Hugot, Jean-Pierre ;

Jobin, Gilles ;

Laukens, Debby ;

Lawrance, Ian ;

Lemann, Marc ;

Levine, Arie ;

Libioulle, Cecile ;

Louis, Edouard ;

McGovern, Dermot P. ;

Milla, Monica ;

Montgomery, Grant W. ;

Morley, Katherine I. ;

Mowat, Craig .

NATURE GENETICS, 2011, 43 (03) :246-U94

[5]

[Anonymous], EUR RESP J

[6] High-Density SNP Screening of the Major Histocompatibility Complex in Systemic Lupus Erythematosus Demonstrates Strong Evidence for Independent Susceptibility Regions [J].

Barcellos, Lisa F. ;

May, Suzanne L. ;

Ramsay, Patricia P. ;

Quach, Hong L. ;

Lane, Julie A. ;

Nititham, Joanne ;

Noble, Janelle A. ;

Taylor, Kimberly E. ;

Quach, Diana L. ;

Chung, Sharon A. ;

Kelly, Jennifer A. ;

Moser, Kathy L. ;

Behrens, Timothy W. ;

Seldin, Michael F. ;

Thomson, Glenys ;

Harley, John B. ;

Gaffney, Patrick M. ;

Criswell, Lindsey A. .

PLOS GENETICS, 2009, 5 (10)

[7] Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease [J].

Barrett, Jeffrey C. ;

Hansoul, Sarah ;

Nicolae, Dan L. ;

Cho, Judy H. ;

Duerr, Richard H. ;

Rioux, John D. ;

Brant, Steven R. ;

Silverberg, Mark S. ;

Taylor, Kent D. ;

Barmada, M. Michael ;

Bitton, Alain ;

Dassopoulos, Themistocles ;

Datta, Lisa Wu ;

Green, Todd ;

Griffiths, Anne M. ;

Kistner, Emily O. ;

Murtha, Michael T. ;

Regueiro, Miguel D. ;

Rotter, Jerome I. ;

Schumm, L. Philip ;

Steinhart, A. Hillary ;

Targan, Stephan R. ;

Xavier, Ramnik J. ;

Libioulle, Cecile ;

Sandor, Cynthia ;

Lathrop, Mark ;

Belaiche, Jacques ;

Dewit, Olivier ;

Gut, Ivo ;

Heath, Simon ;

Laukens, Debby ;

Mni, Myriam ;

Rutgeerts, Paul ;

Van Gossum, Andre ;

Zelenika, Diana ;

Franchimont, Denis ;

Hugot, Jean-Pierre ;

de Vos, Martine ;

Vermeire, Severine ;

Louis, Edouard ;

Cardon, Lon R. ;

Anderson, Carl A. ;

Drummond, Hazel ;

Nimmo, Elaine ;

Ahmad, Tariq ;

Prescott, Natalie J. ;

Onnie, Clive M. ;

Fisher, Sheila A. ;

Marchini, Jonathan ;

Ghori, Jilur .

NATURE GENETICS, 2008, 40 (08) :955-962

[8]

Baughman RP, 1999, J CLIN EPIDEMIOL, V52, P1173, DOI 10.1016/S0895-4356(99)00142-0

[9] HLA-DR predicts the prognosis in Scandinavian patients with pulmonary sarcoidosis [J].

Berlin, M ;

FogdellHahn, A ;

Olerup, O ;

Eklund, A ;

Grunewald, J .

AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE, 1997, 156 (05) :1601-1605

[10]

BREWERTON DA, 1977, CLIN EXP IMMUNOL, V27, P227

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