title: Interleukin-6 gene polymorphism in Iranian patients with systemic lupus erythematosus.
abstract: Interleukin 6 (IL-6) has been shown to be related to the pathogenesis of systemic lupus erythematosus (SLE). In the present study, the relationship between two polymorphisms in the promoter region of IL-6 gene at positions -572 G/C and -174 G/C and disease susceptibility in 401 Iranian patients with SLE was investigated using polymerase chain reaction-restriction fragment length polymorphism method. The genotype distribution and allele frequencies of IL-6 gene polymorphism at -174 position showed no significant difference between SLE patients and controls. In contrary, both allelic and genotypic frequencies at the -572 position significantly differed in SLE patients and controls. At this position, GG genotype was observed in 77.9% of patients compared to 68.9% in the control group (p < 0.014). The frequency of -572 G allele in patients (87.3%) was also higher than in controls (83.2%; p = 0.034). The haplotype study showed no significant difference between patients and healthy subjects. Study of the relationship between these polymorphisms and clinical manifestations and laboratory parameters showed an association between -174 polymorphism and the presence of antinuclear antibodies in all patients and rash and hematuria in male patients (p < 0.04). At -572 polymorphism, a significant difference with regard to photosensitivity in male patients (p = 0.04) was found. In conclusion, results of this study showed that -572 polymorphism plays an important role in susceptibility to SLE and that -174 polymorphism could influence the presence of antinuclear antibodies in the patients.
authors.affiliation: Immunology Department, Medical School, Shiraz University of Medical Sciences, 71345-1798, Shiraz, Iran.
authors.forename: Esmaeil Moazemi
authors.initials: EM
authors.lastname: Godarzi
authors.forename: Eskandar Kamali
authors.initials: EK
authors.lastname: Sarvestani
authors.forename: Elham
authors.initials: E
authors.lastname: Aflaki
authors.forename: Zahra
authors.initials: Z
authors.lastname: Amirghofran
mesh_terms: D000328:Adult; D000483:Alleles; D000974:Antibodies, Antinuclear / Q000235:genetics; D005260:Female; D005787:Gene Frequency; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006239:Haplotypes; D006801:Humans; D015850:Interleukin-6 / Q000235:genetics*; D007492:Iran; D008180:Lupus Erythematosus, Systemic / Q000235:genetics*; D008297:Male; D016133:Polymerase Chain Reaction; D020641:Polymorphism, Single Nucleotide
chemical_list: D000974:Antibodies, Antinuclear; D015850:Interleukin-6
references.citation: Respir Med. 2008 Dec;102(12):1805-11
references.pmid: 18693004
references.citation: Rheumatology (Oxford). 2008 Nov;47(11):1603-11
references.pmid: 18611920
references.citation: J Clin Lab Anal. 2006;20(6):255-9
references.pmid: 17115422
references.citation: Eur J Immunogenet. 1998 Apr-Jun;25(2-3):267
references.pmid: 9615916
references.citation: Lupus. 2008 Dec;17(12):1064-9
references.pmid: 19029273
references.citation: Am J Transplant. 2004 Mar;4(3):402-6
references.pmid: 14961993
references.citation: Ann Clin Lab Sci. 2008 Spring;38(2):113-9
references.pmid: 18469355
references.citation: J Clin Lab Anal. 2006;20(6):260-5
references.pmid: 17115419
references.citation: J Clin Invest. 1998 Oct 1;102(7):1369-76
references.pmid: 9769329
references.citation: Cytokine. 1999 Oct;11(10):789-95
references.pmid: 10525318
references.citation: J Clin Immunol. 2007 Sep;27(5):461-6
references.pmid: 17587156
references.citation: Arthritis Res Ther. 2003;5(4):160-4
references.pmid: 12823845
references.citation: Autoimmun Rev. 2009 Jun;8(7):538-42
references.pmid: 19189867
references.citation: Arthritis Rheum. 2003 Nov;48(11):3202-6
references.pmid: 14613283
references.citation: Chin Med J (Engl). 1998 Jan;111(1):38-42
references.pmid: 10322651
references.citation: Ann N Y Acad Sci. 2009 Sep;1173:239-42
references.pmid: 19758157
references.citation: Atherosclerosis. 2009 May;204(1):178-83
references.pmid: 18848327
references.citation: Genes Immun. 1999 Nov;1(2):166-7
references.pmid: 11196667
references.citation: J Biol Chem. 2000 Jun 16;275(24):18138-44
references.pmid: 10747905
references.citation: Adv Immunol. 2006;92:1-69
references.pmid: 17145301
references.citation: Arterioscler Thromb Vasc Biol. 2001 Sep;21(9):1458-63
references.pmid: 11557672
references.citation: Genes Immun. 1999 Sep;1(1):45-52
references.pmid: 11197305
references.citation: Immunology. 2006 Nov;119(3):296-305
references.pmid: 17067309
references.citation: Cancer Res. 2003 Nov 15;63(22):8051-6
references.pmid: 14633738
references.citation: Rheumatology (Oxford). 2001 Jun;40(6):656-61
references.pmid: 11426023
references.citation: Blood. 2009 May 7;113(19):4534-40
references.pmid: 19224760
references.citation: Atherosclerosis. 2004 May;174(1):157-63
references.pmid: 15135265
references.citation: Lupus. 2006;15(11):715-9
references.pmid: 17153840
references.citation: Rheumatology (Oxford). 2001 Apr;40(4):393-400
references.pmid: 11312376
references.citation: Tissue Antigens. 2007 Nov;70(5):376-82
references.pmid: 17711410
references.citation: Rheumatol Int. 2005 Nov;26(1):1-6
references.pmid: 15449022
references.citation: Hum Mol Genet. 2003 May 15;12(10):1101-10
references.pmid: 12719374
references.citation: J Immunol. 1997 Mar 15;158(6):3009-16
references.pmid: 9058840