title: Genetic Variants in IL-12B and IL-27 in the Polish Patients with Systemic Lupus Erythematosus.
abstract: To investigate the potential association between IL-12B and IL-27 gene polymorphisms and systemic lupus erythematosus (SLE), we performed a case-control study based on the Polish population. Patients with SLE and healthy individuals were examined for -6415 CTCTAA/GC (rs17860508) and +1188A/C (rs3212227) in IL-12B and -924A/G (rs153109) and 4730T/C (rs181206) in IL-27 gene polymorphisms using the high-resolution melting method, PCR-RFLP method and TaqMan SNP genotyping assay, respectively. An increased frequency of GC/GC genotype as well as GC allele of the IL-12B rs17860508 was found in patients with SLE, as compared with healthy subjects (P < 0.001). We did not find differences in genotype and allele frequencies of the IL-12B rs3212227 and IL-27 rs153109 and rs181206 variants between patients with SLE and controls. IL-27 haplotype rs181206C/rs153109G indicated higher risk for SLE (P = 0.002), whereas haplotype rs181206T/rs153109G indicated reduced risk for SLE (P = 0.005). The IL-12B rs3212227 A/C polymorphism was associated with the mean value of the platelets (PLT), urea and complement C3 level. Furthermore, IL-12B rs17860508 genetic variant showed correlation with PLT, prothrombin time, international normalized ratio and alkaline phosphatase. Our results revealed that IL-12B rs17860508 and IL-27 haplotype CG are genetic risk factors for SLE and that both IL-12B rs17860508 and rs3212227 predict disease phenotype.
authors.affiliation: Department of Biochemistry and Molecular Biology, National Institute of Geriatrics, Rheumatology and Rehabilitation, Warsaw, Poland.
authors.forename: A
authors.initials: A
authors.lastname: Paradowska-Gorycka
authors.affiliation: Department of Computer Science and Statistics, Poznan University of Medical Sciences, Poznan, Poland.
authors.forename: A
authors.initials: A
authors.lastname: Sowinska
authors.affiliation: Department of Biochemistry and Molecular Biology, National Institute of Geriatrics, Rheumatology and Rehabilitation, Warsaw, Poland.
authors.forename: B
authors.initials: B
authors.lastname: Stypinska
authors.affiliation: Department of Biochemistry and Molecular Biology, Poznan University of Medical Sciences, Poznan, Poland.
authors.forename: M K
authors.initials: MK
authors.lastname: Grobelna
authors.affiliation: Department of Connective Tissue Diseases, National Institute of Geriatrics, Rheumatology and Rehabilitation, Warsaw, Poland.
authors.forename: M
authors.initials: M
authors.lastname: Walczyk
authors.affiliation: Department of Connective Tissue Diseases, National Institute of Geriatrics, Rheumatology and Rehabilitation, Warsaw, Poland.
authors.forename: M
authors.initials: M
authors.lastname: Olesinska
authors.affiliation: Department of Biochemistry and Molecular Biology, Poznan University of Medical Sciences, Poznan, Poland.|Mossakowski Medical Research Centre, Polish Academy of Sciences, Warsaw, Poland.
authors.forename: P
authors.initials: P
authors.lastname: Piotrowski
authors.affiliation: Department of Biochemistry and Molecular Biology, Poznan University of Medical Sciences, Poznan, Poland.
authors.forename: P P
authors.initials: PP
authors.lastname: Jagodzinski
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D000469:Alkaline Phosphatase / Q000378:metabolism; D001792:Blood Platelets / Q000276:immunology*; D016022:Case-Control Studies; D003176:Complement C3 / Q000378:metabolism; D005787:Gene Frequency; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D053762:Interleukin-12 Subunit p40 / Q000235:genetics*; D007378:Interleukins / Q000235:genetics*; D008180:Lupus Erythematosus, Systemic / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D010641:Phenotype; D011044:Poland; D020641:Polymorphism, Single Nucleotide; D011516:Prothrombin / Q000378:metabolism; D055815:Young Adult
chemical_list: D003176:Complement C3; D053762:Interleukin-12 Subunit p40; D007378:Interleukins; C464565:MYDGF protein, human; D011516:Prothrombin; D000469:Alkaline Phosphatase