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Genotype-phenotype Analysis between Two SNPs rs1913517 and rs463426 with Clinical Features of Systemic Lupus Erythematosus in Chinese Han Population

Author: HuangFei
Tutor: ZhangXueJun；YangSen
School: Anhui Medical University,
Course: Dermatology and Venereology
Keywords: Systemic Lupus Erythematosus Single nucleotide polymorphisms Susceptibility gene
CLC: R593.241
Type: Master's thesis
Year: 2011
Downloads: 22
Quote: 0
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Abstract


Background systemic lupus erythematosus (Systemic lupus erythematosus, SLE) is a multi-organ involvement in autoimmune diseases by genetic factors and environmental factors, and other factors and the incidence. Since 2008, the four European populations SLE genome-wide association studies (genome-wide association study, GWAS) have identified more than 20 susceptibility genes / loci. SLE genome-wide association study by our group in 2009 by the discovery of nine new susceptibility loci and identified the seven previously reported gene loci associated with SLE, including 10q11.22 (SNP rs1913517) and 22q11.21 (SNP rs463426). Currently, a number of genotypes and phenotypes related research has been carried out, not only provides genetic evidence for the pathogenesis of the disease, can also help determine whether these susceptibility genes associated with some clinical phenotype of SLE, and can further for SLE The etiology and pathogenesis provide new perspectives. Objective To investigate the Han population systemic lupus erythematosus clinical phenotype (abnormal facial erythema, discoid lupus, kidney disease, blood system, nervous system abnormalities, oral ulcers, serositis, arthritis, vasculitis, antinuclear antibodies (ANA) , anti-ds-DNA antibodies, anti-Sm antibodies) and chromosome 10q11 region single nucleotide polymorphism rs1913517 and 22q11 region single nucleotide polymorphism rs463426 further elucidate the pathogenesis of systemic lupus erythematosus, its The Etiology treatment provides a new point of view. The method in accordance with the American College of Rheumatology 1997 revised classification criteria for SLE 11 phenotype, age of onset, and vasculitis stratified analysis to determine single line of cases - cases (if any facial erythema patients and patients with facial erythema) nucleotide polymorphism (SNP) associated clinical phenotype, then line sub-table type - the control patients (if any facial erythema / no facial erythema patients and healthy controls) SNPs analysis to determine the different clinical phenotype dedication the risk of size. Application SPSS10.0 odds ratio (Odds ratio, OR) and 95% confidence intervals (95% confidence interval, 95% CI) and P values. P = lt; 0.05 was considered statistically significant. 1 in the case - Case study, SNP rs1913517 and anti-Sm antibodies (p = 0.0015) related to sub-phenotypes - control analysis, SNP rs1913517 allele frequency distribution in most sub-phenotypes have significant differences, nervous system abnormalities (), serositis () and anti-Sm antibodies () patients, the SNP rs1913517 bit allele frequency distribution was no difference (p gt; 0.05). 2 SNP rs463426 allele frequency in the case - Case study with all clinical phenotype was not statistically significant. Alkylene phenotype - control analysis, SNP rs463426 distributed in all sub-phenotype has a significant difference. Conclusion The results showed the the SNP rs1913517 Han anti-Sm antibodies related to systemic lupus erythematosus, SNP rs463426 with systemic lupus erythematosus specific clinical phenotype was no significant correlation.

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CLC: > Medicine, health > Internal Medicine > Systemic disease > Autoimmune diseases > Autoimmune diseases, connective tissue disease > Lupus erythematosus > Systemic lupus erythematosus
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