title: Analysis of Systemic Sclerosis-associated Genes in a Turkish Population.
abstract: To evaluate the genetic background of systemic sclerosis (SSc) in the Turkish population.
  
  
  
  There were 354 cases and 718 unaffected controls from Turkey genotyped for the most relevant SSc genetic markers (IRF5-rs10488631, STAT4-rs3821236, CD247-rs2056626, DNASE1L3-rs35677470, IL12A-rs77583790, and ATG5-rs9373839). Association tests were conducted to identify possible associations.
  
  
  
  Except for ATG5, all the analyzed genes showed either significant associations (IRF5: p = 1.32E-05, OR 1.76; CD247: p = 2.20E-03, OR 0.75) or trends of association (STAT4: p = 0.066, OR 1.21; IL12A: p = 0.079, OR 4.07; DNASE1L3: p = 0.097, OR 1.41) with the overall disease or with specific phenotypes.
  
  
  
  The genetic component of SSc seems to be similar between Turks and Europeans.
authors.affiliation: From the Instituto de Parasitología y Biomedicina "López-Neyra," IPBLN-CSIC, PTS Granada, Granada, Spain; Department of Rheumatology, University of Gaziantep, Gaziantep; Division of Rheumatology, Marmara University, School of Medicine; Department of Rheumatology, Istanbul Bilim University, Istanbul, Turkey; Division of Rheumatology, Department of Internal Medicine, University of Michigan; Center for Computational Medicine and Bioinformatics, University of Michigan, Ann Arbor, Michigan, USA.F.D. Carmona, PhD, Instituto de Parasitología y Biomedicina "López-Neyra," IPBLN-CSIC, PTS Granada; A.M. Onat, MD, Department of Rheumatology, University of Gaziantep; T. Fernández-Aranguren, BSc, Instituto de Parasitología y Biomedicina "López-Neyra," IPBLN-CSIC, PTS Granada; A. Serrano-Fernández, BSc, Instituto de Parasitología y Biomedicina "López-Neyra," IPBLN-CSIC, PTS Granada; G. Robledo, BSc, Instituto de Parasitología y Biomedicina "López-Neyra," IPBLN-CSIC, PTS Granada; H. Direskeneli, MD, Division of Rheumatology, Marmara University, School of Medicine; A.H. Sawalha, MD, Division of Rheumatology, Department of Internal Medicine, University of Michigan, and the Center for Computational Medicine and Bioinformatics, University of Michigan; S. Yavuz, MD, Department of Rheumatology, Istanbul Bilim University; J. Martín, MD, PhD, Instituto de Parasitología y Biomedicina "López-Neyra," IPBLN-CSIC, PTS Granada. dcarmona@ipb.csic.es.
authors.forename: F David
authors.initials: FD
authors.lastname: Carmona
authors.affiliation: From the Instituto de Parasitología y Biomedicina "López-Neyra," IPBLN-CSIC, PTS Granada, Granada, Spain; Department of Rheumatology, University of Gaziantep, Gaziantep; Division of Rheumatology, Marmara University, School of Medicine; Department of Rheumatology, Istanbul Bilim University, Istanbul, Turkey; Division of Rheumatology, Department of Internal Medicine, University of Michigan; Center for Computational Medicine and Bioinformatics, University of Michigan, Ann Arbor, Michigan, USA.F.D. Carmona, PhD, Instituto de Parasitología y Biomedicina "López-Neyra," IPBLN-CSIC, PTS Granada; A.M. Onat, MD, Department of Rheumatology, University of Gaziantep; T. Fernández-Aranguren, BSc, Instituto de Parasitología y Biomedicina "López-Neyra," IPBLN-CSIC, PTS Granada; A. Serrano-Fernández, BSc, Instituto de Parasitología y Biomedicina "López-Neyra," IPBLN-CSIC, PTS Granada; G. Robledo, BSc, Instituto de Parasitología y Biomedicina "López-Neyra," IPBLN-CSIC, PTS Granada; H. Direskeneli, MD, Division of Rheumatology, Marmara University, School of Medicine; A.H. Sawalha, MD, Division of Rheumatology, Department of Internal Medicine, University of Michigan, and the Center for Computational Medicine and Bioinformatics, University of Michigan; S. Yavuz, MD, Department of Rheumatology, Istanbul Bilim University; J. Martín, MD, PhD, Instituto de Parasitología y Biomedicina "López-Neyra," IPBLN-CSIC, PTS Granada.
authors.forename: Ahmet Mesut
authors.initials: AM
authors.lastname: Onat
authors.affiliation: From the Instituto de Parasitología y Biomedicina "López-Neyra," IPBLN-CSIC, PTS Granada, Granada, Spain; Department of Rheumatology, University of Gaziantep, Gaziantep; Division of Rheumatology, Marmara University, School of Medicine; Department of Rheumatology, Istanbul Bilim University, Istanbul, Turkey; Division of Rheumatology, Department of Internal Medicine, University of Michigan; Center for Computational Medicine and Bioinformatics, University of Michigan, Ann Arbor, Michigan, USA.F.D. Carmona, PhD, Instituto de Parasitología y Biomedicina "López-Neyra," IPBLN-CSIC, PTS Granada; A.M. Onat, MD, Department of Rheumatology, University of Gaziantep; T. Fernández-Aranguren, BSc, Instituto de Parasitología y Biomedicina "López-Neyra," IPBLN-CSIC, PTS Granada; A. Serrano-Fernández, BSc, Instituto de Parasitología y Biomedicina "López-Neyra," IPBLN-CSIC, PTS Granada; G. Robledo, BSc, Instituto de Parasitología y Biomedicina "López-Neyra," IPBLN-CSIC, PTS Granada; H. Direskeneli, MD, Division of Rheumatology, Marmara University, School of Medicine; A.H. Sawalha, MD, Division of Rheumatology, Department of Internal Medicine, University of Michigan, and the Center for Computational Medicine and Bioinformatics, University of Michigan; S. Yavuz, MD, Department of Rheumatology, Istanbul Bilim University; J. Martín, MD, PhD, Instituto de Parasitología y Biomedicina "López-Neyra," IPBLN-CSIC, PTS Granada.
authors.forename: Tamara
authors.initials: T
authors.lastname: Fernández-Aranguren
authors.affiliation: From the Instituto de Parasitología y Biomedicina "López-Neyra," IPBLN-CSIC, PTS Granada, Granada, Spain; Department of Rheumatology, University of Gaziantep, Gaziantep; Division of Rheumatology, Marmara University, School of Medicine; Department of Rheumatology, Istanbul Bilim University, Istanbul, Turkey; Division of Rheumatology, Department of Internal Medicine, University of Michigan; Center for Computational Medicine and Bioinformatics, University of Michigan, Ann Arbor, Michigan, USA.F.D. Carmona, PhD, Instituto de Parasitología y Biomedicina "López-Neyra," IPBLN-CSIC, PTS Granada; A.M. Onat, MD, Department of Rheumatology, University of Gaziantep; T. Fernández-Aranguren, BSc, Instituto de Parasitología y Biomedicina "López-Neyra," IPBLN-CSIC, PTS Granada; A. Serrano-Fernández, BSc, Instituto de Parasitología y Biomedicina "López-Neyra," IPBLN-CSIC, PTS Granada; G. Robledo, BSc, Instituto de Parasitología y Biomedicina "López-Neyra," IPBLN-CSIC, PTS Granada; H. Direskeneli, MD, Division of Rheumatology, Marmara University, School of Medicine; A.H. Sawalha, MD, Division of Rheumatology, Department of Internal Medicine, University of Michigan, and the Center for Computational Medicine and Bioinformatics, University of Michigan; S. Yavuz, MD, Department of Rheumatology, Istanbul Bilim University; J. Martín, MD, PhD, Instituto de Parasitología y Biomedicina "López-Neyra," IPBLN-CSIC, PTS Granada.
authors.forename: Alberto
authors.initials: A
authors.lastname: Serrano-Fernández
authors.affiliation: From the Instituto de Parasitología y Biomedicina "López-Neyra," IPBLN-CSIC, PTS Granada, Granada, Spain; Department of Rheumatology, University of Gaziantep, Gaziantep; Division of Rheumatology, Marmara University, School of Medicine; Department of Rheumatology, Istanbul Bilim University, Istanbul, Turkey; Division of Rheumatology, Department of Internal Medicine, University of Michigan; Center for Computational Medicine and Bioinformatics, University of Michigan, Ann Arbor, Michigan, USA.F.D. Carmona, PhD, Instituto de Parasitología y Biomedicina "López-Neyra," IPBLN-CSIC, PTS Granada; A.M. Onat, MD, Department of Rheumatology, University of Gaziantep; T. Fernández-Aranguren, BSc, Instituto de Parasitología y Biomedicina "López-Neyra," IPBLN-CSIC, PTS Granada; A. Serrano-Fernández, BSc, Instituto de Parasitología y Biomedicina "López-Neyra," IPBLN-CSIC, PTS Granada; G. Robledo, BSc, Instituto de Parasitología y Biomedicina "López-Neyra," IPBLN-CSIC, PTS Granada; H. Direskeneli, MD, Division of Rheumatology, Marmara University, School of Medicine; A.H. Sawalha, MD, Division of Rheumatology, Department of Internal Medicine, University of Michigan, and the Center for Computational Medicine and Bioinformatics, University of Michigan; S. Yavuz, MD, Department of Rheumatology, Istanbul Bilim University; J. Martín, MD, PhD, Instituto de Parasitología y Biomedicina "López-Neyra," IPBLN-CSIC, PTS Granada.
authors.forename: Gema
authors.initials: G
authors.lastname: Robledo
authors.affiliation: From the Instituto de Parasitología y Biomedicina "López-Neyra," IPBLN-CSIC, PTS Granada, Granada, Spain; Department of Rheumatology, University of Gaziantep, Gaziantep; Division of Rheumatology, Marmara University, School of Medicine; Department of Rheumatology, Istanbul Bilim University, Istanbul, Turkey; Division of Rheumatology, Department of Internal Medicine, University of Michigan; Center for Computational Medicine and Bioinformatics, University of Michigan, Ann Arbor, Michigan, USA.F.D. Carmona, PhD, Instituto de Parasitología y Biomedicina "López-Neyra," IPBLN-CSIC, PTS Granada; A.M. Onat, MD, Department of Rheumatology, University of Gaziantep; T. Fernández-Aranguren, BSc, Instituto de Parasitología y Biomedicina "López-Neyra," IPBLN-CSIC, PTS Granada; A. Serrano-Fernández, BSc, Instituto de Parasitología y Biomedicina "López-Neyra," IPBLN-CSIC, PTS Granada; G. Robledo, BSc, Instituto de Parasitología y Biomedicina "López-Neyra," IPBLN-CSIC, PTS Granada; H. Direskeneli, MD, Division of Rheumatology, Marmara University, School of Medicine; A.H. Sawalha, MD, Division of Rheumatology, Department of Internal Medicine, University of Michigan, and the Center for Computational Medicine and Bioinformatics, University of Michigan; S. Yavuz, MD, Department of Rheumatology, Istanbul Bilim University; J. Martín, MD, PhD, Instituto de Parasitología y Biomedicina "López-Neyra," IPBLN-CSIC, PTS Granada.
authors.forename: Haner
authors.initials: H
authors.lastname: Direskeneli
authors.affiliation: From the Instituto de Parasitología y Biomedicina "López-Neyra," IPBLN-CSIC, PTS Granada, Granada, Spain; Department of Rheumatology, University of Gaziantep, Gaziantep; Division of Rheumatology, Marmara University, School of Medicine; Department of Rheumatology, Istanbul Bilim University, Istanbul, Turkey; Division of Rheumatology, Department of Internal Medicine, University of Michigan; Center for Computational Medicine and Bioinformatics, University of Michigan, Ann Arbor, Michigan, USA.F.D. Carmona, PhD, Instituto de Parasitología y Biomedicina "López-Neyra," IPBLN-CSIC, PTS Granada; A.M. Onat, MD, Department of Rheumatology, University of Gaziantep; T. Fernández-Aranguren, BSc, Instituto de Parasitología y Biomedicina "López-Neyra," IPBLN-CSIC, PTS Granada; A. Serrano-Fernández, BSc, Instituto de Parasitología y Biomedicina "López-Neyra," IPBLN-CSIC, PTS Granada; G. Robledo, BSc, Instituto de Parasitología y Biomedicina "López-Neyra," IPBLN-CSIC, PTS Granada; H. Direskeneli, MD, Division of Rheumatology, Marmara University, School of Medicine; A.H. Sawalha, MD, Division of Rheumatology, Department of Internal Medicine, University of Michigan, and the Center for Computational Medicine and Bioinformatics, University of Michigan; S. Yavuz, MD, Department of Rheumatology, Istanbul Bilim University; J. Martín, MD, PhD, Instituto de Parasitología y Biomedicina "López-Neyra," IPBLN-CSIC, PTS Granada.
authors.forename: Amr H
authors.initials: AH
authors.lastname: Sawalha
authors.affiliation: From the Instituto de Parasitología y Biomedicina "López-Neyra," IPBLN-CSIC, PTS Granada, Granada, Spain; Department of Rheumatology, University of Gaziantep, Gaziantep; Division of Rheumatology, Marmara University, School of Medicine; Department of Rheumatology, Istanbul Bilim University, Istanbul, Turkey; Division of Rheumatology, Department of Internal Medicine, University of Michigan; Center for Computational Medicine and Bioinformatics, University of Michigan, Ann Arbor, Michigan, USA.F.D. Carmona, PhD, Instituto de Parasitología y Biomedicina "López-Neyra," IPBLN-CSIC, PTS Granada; A.M. Onat, MD, Department of Rheumatology, University of Gaziantep; T. Fernández-Aranguren, BSc, Instituto de Parasitología y Biomedicina "López-Neyra," IPBLN-CSIC, PTS Granada; A. Serrano-Fernández, BSc, Instituto de Parasitología y Biomedicina "López-Neyra," IPBLN-CSIC, PTS Granada; G. Robledo, BSc, Instituto de Parasitología y Biomedicina "López-Neyra," IPBLN-CSIC, PTS Granada; H. Direskeneli, MD, Division of Rheumatology, Marmara University, School of Medicine; A.H. Sawalha, MD, Division of Rheumatology, Department of Internal Medicine, University of Michigan, and the Center for Computational Medicine and Bioinformatics, University of Michigan; S. Yavuz, MD, Department of Rheumatology, Istanbul Bilim University; J. Martín, MD, PhD, Instituto de Parasitología y Biomedicina "López-Neyra," IPBLN-CSIC, PTS Granada.
authors.forename: Sule
authors.initials: S
authors.lastname: Yavuz
authors.affiliation: From the Instituto de Parasitología y Biomedicina "López-Neyra," IPBLN-CSIC, PTS Granada, Granada, Spain; Department of Rheumatology, University of Gaziantep, Gaziantep; Division of Rheumatology, Marmara University, School of Medicine; Department of Rheumatology, Istanbul Bilim University, Istanbul, Turkey; Division of Rheumatology, Department of Internal Medicine, University of Michigan; Center for Computational Medicine and Bioinformatics, University of Michigan, Ann Arbor, Michigan, USA.F.D. Carmona, PhD, Instituto de Parasitología y Biomedicina "López-Neyra," IPBLN-CSIC, PTS Granada; A.M. Onat, MD, Department of Rheumatology, University of Gaziantep; T. Fernández-Aranguren, BSc, Instituto de Parasitología y Biomedicina "López-Neyra," IPBLN-CSIC, PTS Granada; A. Serrano-Fernández, BSc, Instituto de Parasitología y Biomedicina "López-Neyra," IPBLN-CSIC, PTS Granada; G. Robledo, BSc, Instituto de Parasitología y Biomedicina "López-Neyra," IPBLN-CSIC, PTS Granada; H. Direskeneli, MD, Division of Rheumatology, Marmara University, School of Medicine; A.H. Sawalha, MD, Division of Rheumatology, Department of Internal Medicine, University of Michigan, and the Center for Computational Medicine and Bioinformatics, University of Michigan; S. Yavuz, MD, Department of Rheumatology, Istanbul Bilim University; J. Martín, MD, PhD, Instituto de Parasitología y Biomedicina "López-Neyra," IPBLN-CSIC, PTS Granada.
authors.forename: Javier
authors.initials: J
authors.lastname: Martín
mesh_terms: D000328:Adult; D000483:Alleles; D000071187:Autophagy-Related Protein 5 / Q000235:genetics; D017252:CD3 Complex / Q000235:genetics; D016022:Case-Control Studies; D004706:Endodeoxyribonucleases / Q000235:genetics; D005260:Female; D005787:Gene Frequency; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D050835:Interferon Regulatory Factors / Q000235:genetics; D053765:Interleukin-12 Subunit p35 / Q000235:genetics; D008297:Male; D008875:Middle Aged; D010641:Phenotype; D020641:Polymorphism, Single Nucleotide; D050797:STAT4 Transcription Factor / Q000235:genetics; D012595:Scleroderma, Systemic / Q000235:genetics*; D014421:Turkey
chemical_list: C502778:ATG5 protein, human; D000071187:Autophagy-Related Protein 5; D017252:CD3 Complex; C121704:CD3 antigen, zeta chain; C508858:IL12A protein, human; C431713:IRF5 protein, human; D050835:Interferon Regulatory Factors; D053765:Interleukin-12 Subunit p35; D050797:STAT4 Transcription Factor; C494090:STAT4 protein, human; C485421:DNASE1L3 protein, human; D004706:Endodeoxyribonucleases
keywords: GENETICS; SYSTEMIC SCLEROSIS; TURKEY