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The Association Study Between ACE Gene Single Nucleotide Polymorphisim And SLE In Chinese Han Population

Posted on:2007-08-29Degree:MasterType:Thesis
Country:ChinaCandidate:Y WangFull Text:PDF
GTID:2144360185979262Subject:Rheumatology
Abstract/Summary:PDF Full Text Request
Background Systemic lupus erythematosus (SLE) is a prototypic autoimmune disease characterized by the production of antibodies to components of the cell nucleus in association with a diverse array of clinical manifestations. The primary pathological findings in patients with SLE are those of inflammation, vasculitis, immune complex deposition, and vasculopathy. The exact aetiology of SLE is unknown. SLE shows a strong familial aggregation, with a much higher frequency among first degree relatives of patients. Familial clustering indicated that SLE has a significant genetic component with a sibling risk ratio (λ =20), Twin studies showed that the concordance for monozygotic twins is 10 fold more than for dizygotic twins.This suggests that genetic factors play an important role in the predisposition of the disease. However, most cases of SLE are sporadic without identifiable genetic predisposing factors, suggesting that multiple environmental or yet unknown factors may also be responsible. Objectives The aim of this study was to investigate the role of angiotensin-converting enzyme(ACE) gene in susceptibility to systemic lupus erythematosus in Chinese Han population using family based studies, and explore the impact of environmental risk factors and interactions between environmental factors and ACE gene on systemic lupus erythematosus.Methods A family-based association study(FBAT) was carried out for 435 subjects (119 patients and other 316 families members) from 95 nuclear families (age 37.42 ± 14.55 years) with SLE, Of the nuclear families, 47 (49.5%) had both parents, 8 (8.4%) had one single parent, and 40(42.1%) had no available parents. We studied four...
Keywords/Search Tags:systemic lupus erythematosus, ACE, single-nucleotide polymorphism, environmental factors, gene-environment interactions
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