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Associativity Analyses For Single Nucleotide Polymorphism And IgA Nephropathy As Well As Systemic Lupus Erythematosus

Posted on:2011-05-03Degree:MasterType:Thesis
Country:ChinaCandidate:J Y WuFull Text:PDF
GTID:2144360305477773Subject:Zoology
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IgA nephropathy (IgAN) is a mesangial proliferative glomerulonephritis characterized by diffuse or glaebule deposition of immunoglobulin A (IgA, mainly IgA 1) or IgA-containing immune complexes (IgA-ICs) in mesangium and capillary loop. The proportion of 15-40 % patients with IgAN develop end-stage renal failure (ESRF) within twenty years. Strong predictors of progression of IgAN have been identified and include hypertension, severe proteinuria, elevated serum creatinine level as well as histological signs of glomerular sclerosis and interstitial fibrosis. Recently, hypertriglyceridaemia, hyperuricaemia and other components of metabolic syndrome have been incriminated in the process of deterioration of renal function in IgAN. However, a variable course of IgAN progression indicates involvement of other factors as well. In order to elevate the effectiveness of therapia and manipulation in IgAN, it is necessity to elucidate the etiology and pathogenesy of IgAN. IgAN is a complex trait regulated by the interaction among multiple physiologic regulatory systems and likely involving numerous genes which leads to inconsistent findings in genetic studies.Systemic lupus erythematosus (SLE) is a prototypical autoimmune rheumatic disease principally affecting women during childbearing years. In the past 40 years, prognosis for patients with systemic lupus erythematosus (SLE) has improved, with 10-year survival now approximately 90%. This is due probably to a combination of earlier disease diagnosis and diagnosis of milder disease, due in part to availability of multiple serological tests for SLE, use of steroids and other immunosuppressive agents, and availability of renal dialysis and transplantation. Despite this, however, the potential for significant morbidity and mortality remains in the group of patients with partially responsive or treatment resistant disease. In order to elevate the effectiveness of therapia and manipulation in SLE, it is necessity to elucidate the etiology and pathogenesy of SLE. Some investigation had shown that SLE likely involving numerous genes which leads to inconsistent findings in genetic studies.In our study, in order to investigate the association between Polymorphism and IgA nephropathy as well as Systemic lupus erythematosus, a large-scale evaluation of 22 Single Nucleotide Polymorphisms of 14 candidate genes was undertaken using the Sequenom? MassARRAY? system in Chinese southern Han's males. investigation of SNPs have been the contents and objective of the human genome project. Our study will contribute effects to elevate the effectiveness of therapia and manipulation in IgAN and SLE. At the same time, it may provid an important clue for the diagnosticate of IgAN and SLE.In this experiment, CTLA4rs231726 and CR2rs1048971 revealed a significant association with IgA nephropathy, and STAT4rs7574865 and TYK2rs12720270 revealed a significant association with SLE. In addition, there were two significant differences in allele frequency between SLE and the matched controls for all of the 22 SNPs(rs7574865 and rs294183, separately). These findings support the multigenic nature of the etiology of IgA nephropathy and propose a potential gene–gene interactive model for future studies.
Keywords/Search Tags:Sequenom MassARRAYTM iPLEXTM Assay, Single Nucleotide Polymorphism, Genotyping, IgA nephropathy, Systemic lupus erythematosus
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