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Background: Systemic lupus erythematosus is a kind of autoantibodies and immune complexes characterized by autoimmune disease, its etiology is complex, is infectious, genetic and environmental interactions among factors results. TLR4 gene in immune function has an important role, once exogenous or endogenous fragment, such as bacterial lipopolysaccharide, heat shock protein activated by a ligand, to signal transduction through activation of nuclear transcription factor NF-κB, and express a variety of cytokines and chemokines, are involved in innate immune responses and activation of acquired immunity important factor. To explore the TLR4 gene and autoimmune diseases, contact us, we the Han population in Yunnan to carry out systemic lupus erythematosus and TLR4 gene correlation. Materials and Methods: 553 cases and 564 cases of patients with systemic lupus erythematosus healthy control samples were collected from the Second Affiliated Hospital of Kunming Medical College. 553 cases cases were consistent with 1997 American College of Rheumatology (ACR) on the revised diagnostic criteria for systemic lupus erythematosus. Using PCR-RFLP and direct sequencing analysis of the samples included in the study on three TLR4 gene single nucleotide polymorphisms (rs10759932, rs41426344, rs11536889) polymorphism detection. Test results using SPSS11.5, Arelequin3.01, HaploView software for calculation and analysis, and logistic model with 95% confidence intervals calculated degree of risk. Results: 1) In the cases and normal control samples, TLR4 in three polymorphic loci were detected. 2) locus analysis showed that rs11536889 locus genotype and allele frequencies between cases and controls was no significant difference in the sample, suggesting that a point and the occurrence of systemic lupus erythematosus irrelevant; 3) rs41426344, GC miscellaneous mutation genotype, rs10759932 C allele and homozygous mutant genotype CC, CT heterozygous genotype are risk factors for disease, systemic lupus erythematosus disease increased the risk (adjusted p lt; 0.05). 4) rs41426344 sites both in the case or the normal control group, allele G, C and R24 genotype frequencies in the HapMap populations (6 Caucasian, six African-Americans, six Asians and six U.S. San Francisco Bay Area Spaniards) frequency distribution similar, indicating that this locus allele in different populations or geographic differences are not large; 5) rs10759932 locus in the normal control group, the T-frequency ratio ancestors came from in northern and western Europe Utah residents (CEU) population by about 40%; rs11536889 G allele frequency distribution of the Japanese population is very close to East Asia, but lower than the European Caucasian population 11.05%, lower than the African Yoruba population 23.55%, which to some extent prompted the two allele frequency distribution may be some differences in geographic or population. Conclusion: in Yunnan Han population, with case - control study on genetic TLR4 polymorphism associated with systemic lupus erythematosus conduct research, and Yunnan Han population frequency distribution of TLR4 gene polymorphism conducted a statistical analysis, the results show , TLR4 gene rs41426344 and rs10759932 polymorphism loci associated with the occurrence of systemic lupus erythematosus, TLR4 gene rs10759932 and rs11536889 locus showing geographical, ethnic differences.
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