| Background Systemic lupus erythematosus(SLE) is a kind of secondary immunecomplex deposition and a variety of autoantibodies produced which involving multipleorgans and clinical manifestation of a variety of autoimmune Systemic disease. Currentthink SLE were connect with genetic, the use of drugs, immune disorders, and a varietyof factors such as infection, genetic susceptibility in SLE clinical manifestations and theheredity plays a key role. We through SLE genome-wide association studies metaanalysis DRAM1(rs4622329) gene was significantly correlated with Han Chinese SLEpatients.Objective To study the clinical phenotype of systemic lupus erythematosus (SLE) inChinese Han population, arthritis, ANA, kidney disease, age of onset, butterflyerythema, serum C3, discoid lupus, ds-DNA antibodies, light sensitive, Sm antibodies,an abnormal of nervous system and blood system, oral ulcer, RNP antibody, serositis,vasculitis and DRAM1rs4622329in12q23.2correlation, and provide basis for thepathogenesis clinical treatment and prevention of SLE.Methods According to SLE classification standard in1997American rheumatologyrevised clinical phenotypes and index of laboratory examination and the age of onsetand vasculitis17tiered analysis, first for case-control (such as kidney disease in patients with/without renal disease patients and normal healthy control groups) analysis ofDRAM1(rs4622329) and the correlation of different clinical phenotype, then the case(such as kidney disease patients with and without kidney disease patients) analysisfurther identified with SNP rs4622329single nucleotide polymorphisms (SNP)associated with clinical phenotype. Analysis of genome-wide association study teampreviously Chinese mainland Han rs4622329sites using Illumina platform (1047casesof SLE and1205cases of normal control) validation and Sequenom platform of Chinesemainland Han Population genotype data (1104cases of SLE and3312cases of normalcontrol) and the Sequenom platform for independent new Chinese mainland Hanpopulation genotype data (2208patients with SLE and2208normal control) and usePlink1.07for statistical analysis, the calculation of P value, odds ratio (OR) and95%confidence intervals (95%CI). P <0.05believes that significant differences, which hadstatistical significance.Results1. the minor allele frequency (MAF) of SNP rs4622329(DRAM1) sites in inthe SLE group and the healthy control group were40.43%and43.42%, that frequencydifferences were statistically significant (P=1.23×10-3, OR=0.88,95%CI:0.81-0.95).2. in the case-control of correlation analysis of seventeen clinical phenotype ofDRAM1(rs4622329) loci were association with butterfly erythema (SLE (+) vsControl:P=5.38×10-3, OR=0.88,95%CI:0.80-0.96), kidney disease (SLE (+) vsControl:P=1.02×10-3, OR=0.85,95%CI:0.77-0.94), blood system disorders (SLE (+)vs Control:P=4.70×10-4, OR=0.85,95%CI:0.78-0.93), oral ulcer (SLE(+) vs Control:P=3.28×10-3, OR=0.84,95%CI:0.75-0.94), arthritis (SLE (+) vs Control:P=5.00×10-3,OR=0.87,95%CI:0.80-0.96), ANA (SLE (+) vs Control:P=6.24×10-3, OR=0.89,95%CI:0.82-0.97), immunological abnormalities (SLE (+) vs Control:P=6.34×10-3,OR=0.89,95%CI:0.82-0.97) with statistical significance between phenotypic positivepatients and normal controls,but no difference was found between the phenotype of negative patients and normal controls (P>0.05);In the seven clinical phenotype in thetwo kinds of patients (positive and negative phenotype) were significantly differentdistribution of minimum allele frequencies between normal controls.3. On the analysisof seventeen clinical phenotype in case-only of DRAM1(rs4622329) loci associatedwith hematologic abnormalities (P=2.73×10-2,OR=0.85, CI:0.74-0.9895%), but notwith other clinical phenotype.Conclusions The result reveal that the single nucleotide polymorphism of DRAM1(rs4622329) might not associated with the susceptibility of SLE in Chinese Hanpopulation, but also may be associated with abnormal blood system. |
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