title: TRAF1/C5, eNOS, C1q, but not STAT4 and PTPN22 gene polymorphisms are associated with genetic susceptibility to systemic lupus erythematosus in Turkey.
abstract: A significant source of variability in the literature on systemic lupus erythematosus (SLE) susceptibility genes has been the inability to replicate genetic findings across different racial or ethnic groups. We investigated whether a single nucleotide polymorphism (SNP) of the STAT4 (rs7574865), PTPN22 (rs2476601), TRAF1/C5 (rs10818488), and C1q (rs292001) genes as well as the 27-bp VNTR polymorphism on intron 4 of eNOS, previously associated with SLE in other populations, are also associated with SLE risk in Turkey. A group of 158 SLE patients and 155 healthy controls were included in this study. A genetic association of the TRAF1/C5, C1q, and eNOS gene polymorphism, but not of STAT4 and PTPN22, was found to confer a degree of risk for SLE. These data highlight the importance of comparative studies in different populations to confirm the previously detected genetic associations.
authors.affiliation: Laboratory of Molecular Medicine and Human Genetics, Department of Medicine, Medical School, University of Crete, and Department of Rheumatology, Clinical Immunology and Allergy, University Hospital of Heraklion, Heraklion, Greece.
authors.forename: Maria I
authors.initials: MI
authors.lastname: Zervou
authors.forename: Vassilios M
authors.initials: VM
authors.lastname: Vazgiourakis
authors.forename: Neslihan
authors.initials: N
authors.lastname: Yilmaz
authors.forename: Elena
authors.initials: E
authors.lastname: Kontaki
authors.forename: Leendert A
authors.initials: LA
authors.lastname: Trouw
authors.forename: Rene E
authors.initials: RE
authors.lastname: Toes
authors.forename: Muge
authors.initials: M
authors.lastname: Bicakcigil
authors.forename: Dimitrios T
authors.initials: DT
authors.lastname: Boumpas
authors.forename: Sule
authors.initials: S
authors.lastname: Yavuz
authors.forename: George N
authors.initials: GN
authors.lastname: Goulielmos
mesh_terms: D000328:Adult; D016022:Case-Control Studies; D015331:Cohort Studies; D015922:Complement C1q / Q000235:genetics* / Q000276:immunology; D005260:Female; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D008180:Lupus Erythematosus, Systemic / Q000453:epidemiology / Q000235:genetics* / Q000276:immunology; D008297:Male; D008875:Middle Aged; D052250:Nitric Oxide Synthase Type III / Q000235:genetics* / Q000276:immunology; D020641:Polymorphism, Single Nucleotide / Q000276:immunology*; D054596:Protein Tyrosine Phosphatase, Non-Receptor Type 22 / Q000235:genetics / Q000276:immunology; D012307:Risk Factors; D050797:STAT4 Transcription Factor / Q000235:genetics / Q000276:immunology; D047990:TNF Receptor-Associated Factor 1 / Q000235:genetics* / Q000276:immunology; D014421:Turkey / Q000453:epidemiology
chemical_list: D050797:STAT4 Transcription Factor; C494090:STAT4 protein, human; D047990:TNF Receptor-Associated Factor 1; D015922:Complement C1q; C496314:NOS3 protein, human; D052250:Nitric Oxide Synthase Type III; C516765:PTPN22 protein, human; D054596:Protein Tyrosine Phosphatase, Non-Receptor Type 22