| PrefaceSystemic lupus erythematosis (SLE) is an autoimmune disease. The epidemic data shows that genetic factors play important roles in the pathogenesis of SLE. Genes which are associated with susceptibility to SLE are always related to immune events.Granulocyte colony - stimulating factor ( G - CSF) which can induce vasculitis has drawn intensive attention. G - CSF can modulate functions of immuoactive cells, promote T cells reverse to Th2 pheno-type and proliferation of B lymphocytes as well as increasing the production of immunoglobulin, protect some T, lymphocytes from apop-tosis. G - CSF is related to nephritis (including LN) proteinuria. G-CSF may take part in immunoinflammative diseases extensively. Also there may be some abnormalities within G - CSF - R involved in SLE.Both the association between G - CSF - R and SLE susceptibility and the abnormal expression of the receptor were found in NZW x NZB FI mice. This indicates that we can analyze the relationship between G-CSF - R gene and human SLE according to the results from animals. Based on those above, we studied the association between G -CSF-R single nucleotide polymorphism (SNP) and SUE susceptibility as well as lupus nephritis.Material and Method1. Material; PCR reaction system, Taq enzyme, primer et al. e-quipment: PE 9600 PCR amplifier et al.2. We studied 144 SUE patients (131 females and 13 males, age ranges from 12 to 69 years) who met the 1982 revised criteria of the American college of Rheumatology for systemic lupus erythematosis. 489 healthy donors were used as controls (435 females and 54 males, and age matched with SUE). And there were still 85 patients with other immune diseases involved in the study.3. Clinical and laboratory data came from our case records and results from laboratory examination.4. Method: We collected anticoagulant whole blood from all the people mentioned above and separated white blood cells. Genomic DNA was extracted from peripheral leukocytes using saturated phenol/ cloroform method. New primers were designed for hot - start PCR reaction according to the results of DNA sequencing. All the PCR products were analyzed by SSCP. The chi-squared test and Kendall's a-nalysis were used for statistical analysis.Results1. SNP was found at nucleotide (nt) 9606 in the 5th intron of G - CSF - R gene. There were three genotypes: A. A/G heterozygote, B. A/A homozygote, C. G/G homozygote.2. There was significant difference in the distribution of different genotypes between SLE, but not other immune diseases (P>0.05) , and controls (x2=14.431, P=0.001).3. The frequency of A/G genotypes was obviously higher in patients with SLE than that of control group ( P =0.002) ; The frequency of A/A genotypes was significantly lower than that of control group ( P= 0. 0001); And there was no difference in the frequencies of G/G genotypes between these two groups (P =0.157).There was significant difference in the positive rates of A and G alleles between these two groups ( P = 0. 0001). The frequency of A alleles was obviously lower than that of control group, and the frequency of G alleles was obviously higher than that of control group.4. There was no difference in the positive rates of different genotypes among different clinical manifestations and results from laboratory examination ( P > 0. 05 ).5. Kendall's association analysis indicated that A/A genotype was related to the degree of proteinuria (r,=0.249, P=0.049).DiscussSNP was found for the first time at nt 9606 in the 5th intron of G - CSF - R gene in the people ( both patients and controls) of Han ethnic group collected from the Northern China. There were three genotypes: 9606 A/G, 9606 A/A, 9606 G/G.Statistic data demonstrated that the SNP was associated with susceptibility to SLE. Our results were in accordance with the conclusion from foreign authors who believed the abnormalities in number, structure and signal transduction of G - CSF - R may play an important rolein pathogenesis of SUE.
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