Immunochip Analysis Identifies Multiple Susceptibility Loci for Systemic Sclerosis

被引：163

作者：

Mayes, Maureen D. ^{[1
]}

Bossini-Castillo, Lara ^{[2
]}

Gorlova, Olga ^{[3
]}

Martin, Jose Ezequiel ^{[2
]}

Zhou, Xiaodong ^{[1
]}

Chen, Wei V. ^{[3
]}

Assassi, Shervin ^{[1
]}

Ying, Jun ^{[3
]}

Tan, Filemon K. ^{[1
]}

Arnett, Frank C. ^{[1
]}

Reveille, John D. ^{[1
]}

Guerra, Sandra ^{[4
]}

Terue, Maria ^{[2
]}

Carmona, Francisco David ^{[2
]}

Gregersen, Peter K. ^{[5
]}

Lee, Annette T. ^{[5
]}

Lopez-Isac, Elena ^{[2
]}

Ochoa, Eguzkine ^{[2
]}

Carreira, Patricia ^{[6
]}

Simeon, Carmen Pilar ^{[7
]}

Castellvi, Ivan ^{[8
]}

Angel Gonzalez-Gay, Miguel ^{[9
]}

Zhernakova, Alexandra ^{[10
,11
]}

Padyukov, Leonid ^{[11
]}

Aarcon-Riquelme, Marta ^{[12
,13
]}

Wijmenga, Cisca ^{[10
,11
]}

Brown, Matthew ^{[14
]}

Beretta, Lorenzo ^{[15
]}

Riemekasten, Gabriela ^{[16
]}

Witte, Torsten ^{[17
]}

Hunzelmann, Nicolas ^{[18
]}

Kreuter, Alexander ^{[19
]}

Distler, Jorg H. W. ^{[20
]}

Voskuy, Alexandre E. ^{[21
]}

Schuerwegh, Annemie J. ^{[22
,23
]}

Hesselstrand, Roger ^{[24
]}

Nordin, Annika ^{[11
]}

Airo, Paolo ^{[25
]}

Lunardi, Claudio ^{[26
]}

Shiels, Paul ^{[27
]}

van Laar, Jacob M. ^{[28
]}

Herrick, Ariane ^{[29
]}

Worthington, Jane ^{[29
]}

Denton, Christopher ^{[4
]}

Wigley, Fredrick M. ^{[30
]}

Hummers, Laura K. ^{[30
]}

Varga, John ^{[31
]}

Hinchcliff, Monique E. ^{[31
]}

Baron, Murray ^{[32
]}

Hudson, Marie ^{[32
]}

机构：

[1] Univ Texas Hlth Sci Ctr Houston, Houston, TX 77030 USA

[2] CSIC, Inst Parasitol & Biomed Lopez Neyra, Granada 18016, Spain

[3] Univ Texas MD Anderson Canc Ctr, Dept Epidemiol, Houston, TX 77030 USA

[4] UCL, Sch Med, Ctr Rheumatol, London WC1E 6BT, England

[5] North Shore Long Isl Jewish Hlth Syst, Feinstein Inst Med Res, Manhasset, NY 11030 USA

[6] Hosp Univ 12 Octubre, Dept Rheumatol, Madrid 28041, Spain

[7] Hosp Valle De Hebron, Dept Internal Med, Barcelona 08035, Spain

[8] Hosp Santa Creu & Sant Pau, Dept Rheumatol, Barcelona 08025, Spain

[9] Hosp Univ Marques de Valdecilla, Inst Formac Invest Marques de Valdecilla, Dept Rheumatol, Santander 39008, Spain

[10] Univ Groningen, Univ Med Ctr Groningen, Dept Genet, NL-9700 Groningen, Netherlands

[11] Karolinska Inst, Karolinska Univ Hosp, Dept Med, Rheumatol Unit, S-17176 Stockholm, Sweden

[12] Univ Granada, Ctr Pfizer, Area Variabilidad ADN Humano, Junta Andalucia Genom & Invest Oncol, Granada 18016, Spain

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

[14] Univ Queensland, Diamantina Inst, Translat Res Inst, Brisbane, Qld 4072, Australia

[15] Fdn IRCCS Ca Granda Osped Maggiore Policlin Milan, Referral Ctr Syst Autoimmune Dis, I-20122 Milan, Italy

[16] Charite, Dept Rheumatol & Clin Immunol, D-10117 Berlin, Germany

[17] Hannover Med Sch, Dept Clin Immunol, D-30625 Hannover, Germany

[18] Univ Cologne, Dept Dermatol, D-50924 Cologne, Germany

[19] HELIOS St Elisabeth Hosp, Dept Dermatol Venereol & Allergol, D-46045 Oberhausen, Germany

[20] Univ Erlangen Nurnberg, Inst Clin Immunol, Dept Internal Med, D-91054 Erlangen, Germany

[21] Vrije Univ Amsterdam, Med Ctr, Dept Rheumatol, NL-1081 HV Amsterdam, Netherlands

[22] Leiden Univ, Med Ctr, Dept Rheumatol & Pathol, NL-2300 RC Leiden, Netherlands

[23] Leiden Univ, Med Ctr, Cent Med Immunol Lab, NL-2300 RC Leiden, Netherlands

[24] Lund Univ, Dept Rheumatol, S-22185 Lund, Sweden

[25] Spedali Civil Brescia, Serv Reumatol & Immunol Clin, I-25123 Brescia, Italy

[26] Univ Verona, Dept Med, I-37134 Verona, Italy

[27] Univ Glasgow, Glasgow Biomed Res Ctr, Glasgow G61 1BD, Lanark, Scotland

[28] Newcastle Univ, Inst Cellular Med, Musculoskeletal Res Grp, Newcastle Upon Tyne NE2 4HH, Tyne & Wear, England

[29] Univ Manchester, Manchester Acad Hlth Sci Ctr, Arthrit Res UK Epidemiol Unit, Manchester M13 9PT, Lancs, England

[30] Johns Hopkins Univ, Div Rheumatol, Baltimore, MD 21224 USA

[31] Northwestern Univ, Div Rheumatol, Chicago, IL 60611 USA

[32] McGill Univ, Jewish Gen Hosp, Dept Rheumatol, Montreal, PQ H3T 1E2, Canada

[33] Univ Western Ontario, Div Rheumatol, London, ON N6A 4V2, Canada

[34] Univ Calif Los Angeles, Div Rheumatol, Los Angeles, CA 90095 USA

[35] Univ Michigan, Div Rheumatol, Ann Arbor, MI 48109 USA

[36] Univ Minnesota, Div Rheumatol, Minneapolis, MN 55455 USA

[37] Univ Minnesota, Div Rheumat & Autoimmune Dis, Minneapolis, MN 55455 USA

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

[39] Georgetown Univ, Med Ctr, Div Rheumatol, Washington, DC 20007 USA

[40] Boston Univ, Div Rheumatol, Boston, MA 02118 USA

[41] Univ Alabama Birmingham, Div Rheumatol, Birmingham, AL 35294 USA

[42] Univ Utah, Div Rheumatol, Salt Lake City, UT 84132 USA

[43] Carolinas Healthcare Syst, Dept Rheumatol, Charlotte, NC 28211 USA

[44] Moncton Hosp, Dept Rheumatol, Moncton, NB E1C 6Z8, Canada

[45] Alberta Hlth Serv, Dept Med, Rheumatol Sect, Calgary, AB T2N 2T9, Canada

[46] McMaster Univ, Dept Med, Div Rheumatol, Hamilton, ON L8N 1Y2, Canada

[47] Univ Edmonton, Dept Rheumatol, Edmonton, AB T5M 0H4, Canada

[48] Univ Saskatchewan, Dept Rheumatol, Saskatoon, SK S7K 0H6, Canada

[49] Univ Manitoba, Dept Rheumatol, Arthrit Ctr, Winnipeg, MB R3A 1M4, Canada

[50] Radboud Univ Nijmegen, Dept Rheumatol, Med Ctr, NL-6500 HC Nijmegen, Netherlands

来源：

AMERICAN JOURNAL OF HUMAN GENETICS | 2014年 / 94卷 / 01期

基金：

美国国家卫生研究院;

关键词：

WHOLE-GENOME ASSOCIATION; GENETIC RISK-FACTOR; FUNCTIONAL POLYMORPHISM; WIDE ASSOCIATION; DNASE-GAMMA; DISEASE; STAT4; IRF5; VARIANTS; PRDM1;

D O I：

10.1016/j.ajhg.2013.12.002

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

In this study, 1,833 systemic sclerosis (SSc) cases and 3,466 controls were genotyped with the Immunochip array. Classical alleles, amino acid residues, and SNPs across the human leukocyte antigen (HLA) region were imputed and tested. These analyses resulted in a model composed of six polymorphic amino acid positions and seven SNPs that explained the observed significant associations in the region. In addition, a replication step comprising 4,017 SSc cases and 5,935 controls was carried out for several selected non-HLA variants, reaching a total of 5,850 cases and 9,401 controls of European ancestry. Following this strategy, we identified and validated three SSc risk loci, including DNASE1L3 at 3p14, the SCHIP1-IL12A locus at 3q25, and ATG5 at 6q21, as well as a suggested association of the TREH-DDX6 locus at 11q23. The associations of several previously reported SSc risk loci were validated and further refined, and the observed peak of association in PXK was related to DNASE1L3. Our study has increased the number of known genetic associations with SSc, provided further insight into the pleiotropic effects of shared autoimmune risk factors, and highlighted the power of dense mapping for detecting previously overlooked susceptibility loci.

引用

页码：47 / 61

页数：15

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