| Background Systemic lupus erythematosus (SLE) is a prototypic autoimmune disease.In Asian countries, SLE is more usual than that in Europe. Almost90%of SLE patientsare women. Currently, the effects of genetic and environmental factors are probablyconsidered to cause abnormal cell signaling pathways, produce a variety ofautoantibodies and immune dysfunction, then lead to tissue and organ damage. Theinterleukin-1receptor-associated kinase1(IRAK1) gene is located on chromosome X.Previous studies have suggested that single nucleotide polymorphisms (SNPs) of IRAK1（rs3027898，rs1059702）are associated with multiple autoimmune diseases inEuropeans. However, the relationship between IRAK1polymorphisms and SLE inChinese population have not been reported.Objective To examine the association of two IRAK1single nucleotide polymorphisms(rs3027898, rs1059702) with SLE in a Chinese Han population by comparing thegenotype and allele frequencies in the patients and controls, and explore the relationshipbetween the polymorphisms and clinical manifestations.Methods A total of667patients with SLE were recruited from the First AffiliatedHospital of Anhui Medical University and Anhui Provincial Hospital. All patientsfulfilled the1997revised criteria of the American College of Rheumatology for theclassification of SLE. And667age and sex-matched controls were recruited from medical examination center and healthy graduate student volunteers. There were591female and76male with a mean age of35.21±11.39years in SLE group, and589female and78male with a mean age of34.38±12.04years were in control group. Aftergetting their informed consent, blood samples and clinical information were collected.After extracting DNA，the genotyping of two SNPs (rs3027898, rs1059702) wasdetermined by TaqMan allele discrimination assay. The database was established byEpiData3.02software to type clinical information. The data were analyzed by SPSS10.01software.Results （1）In SLE group, the success rate of genotyping for rs3027898was99.1%（586female,75male），and the success rate of genotyping for rs1059702was99.7%（591female,74male）. In controls，the success rate of genotyping for rs3027898was99.4%（586female,77male），and the success rate of genotyping for rs1059702was99.7%（587female,78male）. No deviations from HWE were observed in the cases andcontrols.（2）For rs3027898, the genotype frequencies of C/C, C/A, A/A were63.5%,30.5%,6.0%in controls and71.5%,25.3%,3.2%in patients. When A/A genotype wasused as the reference group, the C/C genotypes were significantly higher in SLE groupthan in controls. But the frequency of C/A genotype suggested no statistical significance.The C allele was significantly increased in patients compared to controls. Moreover, asimilar association was replicated in the dominant and recessive models.For rs1059702, the genotype frequencies of A/A, A/G, G/G were60.7%,33.1%,6.2%in controls and68.6%,27.8%,3.6%in patients. When G/G genotype was used asthe reference group, the A/A genotypes were significantly higher in SLE than in controls.But the frequency of A/G genotype suggested no statistical significance. The A allelewas significantly increased in patients compared to controls. Moreover, a similarassociation was replicated in the dominant and recessive models. （3）The frequency allele C of rs3027898was lower in patients with oral ulcersthan patients without oral ulcers（OR=0.655,95%CI=0.465-0.922, P=0.015）.However, no significant differences were discovered in other clinical features, such asdiscoid rash, lupus encephalopathy, malar rash, lupus nephritis, arthritis andphotosensitivity. In addition, the allele frequency of rs1059702was not associated withthe seven common clinical manifestations of SLE mentioned above.Conclusion The polymorphisms rs3027898and rs1059702with IRAK1gene may berelated to SLE risk in Chinese Han population. rs3027898might reduce the risk of oralulcers in patients with SLE. |
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