Angiotensin-converting enzyme (ACE) was first identified as a key component of the rennin-angiotensin system, as its main role is to process angiotensin I to angiotensin II and degrade bradykinin. Human ACE maps to chromosome 17q23 spans 21Kb, includes 26 exons and 25 introns. In humans, ID, DD, and II polymorphism is located in intron 16 of the angiotensin gene. The purpose of this study is to investigate the frequency of ACE gene insertion/deletion (I/D) polymorphism genotype in systemic lupus erythematosus (SLE) patients and to study the correlation between I/D polymorphism of the ACE gene and clinical manifestations of SLE. Sixty one (61) controls and 61 SLE patients were recruited from Punjab-Pakistan. Sixty one SLE patients and 61 control subjects were studied for ACE I/D polymorphism by using Triple primer method with nested polymerase chain reaction (PCR). The frequency of DD, ID and II genotypes was 54, 3 and 4% in SLE patients' and 23, 32 and 6% in healthy controls, respectively. The frequency of DD allele in SLE patients with lupus nephritis is 100%, Sjogren's syndrome 100%, Raynaud's phenomenon 88.88%, and with rheumatoid arthritis it is 78.94%. The frequency of ID allele in SLE patients with Raynaud's phenomenon is 5.55%, and with rheumatoid arthritis it is 10.52%. The frequency of II allele in SLE patients with Raynaud's phenomenon 5.55%, rheumatoid arthritis is 10.52% but the important thing to note is that the frequency of II allele in SLE patients with vasculitis is 100%. This study was undertaken to determine whether DD, ID and II polymorphisms of Intron16 of the ACE gene is associated with SLE and whether the results support such an association. It can be concluded that lupus nephritis, Sjogren's syndrome, Raynaud's phenomenon, rheumatoid arthritis and vasculitis, which are common among Pakistani SLE patients, are related diseases and ACE gene is involved in lupus susceptibility.
Th e fi rst genetic factors to be identifi ed as important in the pathogenesis of Systemic lupus erythematosus (SLE) were those of the major histocompatibility complex (MHC) on chromosome . It is now widely accepted that MHC genes constitute a part of the genetic susceptibility to SLE. Th e study population comprised SLE patients fulfi lling at least four of the American college of Rheumatology criteria for SLE and healthy blood donors as controls. SLE female versus male ratio was approximately :. Mean age at diagnosis was . ± . (- years). DNA-based HLA Typing for HLA-A, HLA-B, and HLA-DRB was carried out by Polymerase chain reaction with sequence specifi c primers using genomic DNA obtained from blood samples. A total of alleles have been studied at locus A, alleles at locus B and DRB alleles. Th e allelic frequencies of HLA-A, HLA-B, and HLA-DRB antigens in SLE patients from Pakistan were compared with the controls. A signifi cant increase was observed in the frequency of HLA-A*, A*, A*, A*, A* A*, HLA-B*, B*, B*, B*, B*, B*, B*, B*, HLA-DRBI*, DRBI*, DRBI*, DRBI* among SLE patients indicating a positive association of these alleles with SLE. HLA-A*, A*, A*, A*, A*, A*, HLA-B*, HLA-DRB*, were found to be decreased in the patient group as compared to controls indicating a negative association of these alleles with SLE. Th us from this study we can conclude that SLE is associated with certain MHC alleles in Pakistani population.© Association of Basic Medical Sciences of FBIH. All rights reserved KEY WORDS: systemic lupus erythematosus, major histocompatibility complex, Human Leukocyte Antigen, Polymerase chain reaction, rheumatology, DNA-based HLA typing.
Histochemical and functional properties of mast cells (MC) in Brown Norway rats recovering from chronic treatment with the MC secretagogue compound 48/ 80 were examined. In the skin, treatment for 5 days with compound 48/80 resulted in a marked decrease in MC subpopulations defined by differential alcian blue/safranin staining. Both safranin-positive connective tissue MC and alcian blue staining MC were reduced in number. This was accompanied by significant decreases in skin histamine and rat MC serine protease I contents and a loss of specific IgE-mediated passive cutaneous anaphylaxis (PCA) activity. The PCA reaction did not return to normal before 2 months after stopping treatment and only when the numbers of safranin-positive connective tissue MC and skin histamine content reached pretreatment levels. The subepidermal alcian blue staining MC not eliminated by the compound 48/80 treatment were formalin resistant (unlike alcian blue staining mucosal MC of the intestine) and apparently played no role in the PCA response. MC numbers, histamine levels, and rat MC serine protease 1 content of the tongue were similarly decreased by compound 48/80. In contrast, mucosal MC of the gut were unaffected by the secretagogue treatment.
Purpose:The main objective of this study was to measure serum complement C3 and C4 concentrations in patients of lupus nephritis to see if these simple measurements would give useful information to the clinician managing such patients.. Method: A total of 52 samples were obtained from SLE patients, 17 suffering from lupus nephritis. All patients met the revised 1997 American College of Rheumatology criteria for SLE. Serum C3 and C4 concentrations were measured with single gel radioimmunodiffusion technique. Results: In lupus nephritis, C3 and C4 are generally correlated. Both C3 and C4 levels were decreased but C4 concentrations were more often and more profoundly depressed than C3 concentration. Conclusion: All patients of lupus nephritis with low C3 or C4 concentrations should have serial measurements performed and selected patients will need a full complement profile, including measurement of alternate pathway components and total hemolytic pathway.
Systemic Lupus Erythematosus is one of the classic examples of autoimmune diseases among human beings and is a rare disease in Pakistani population. Clinically it is a quite diverse and complicated autoimmune disease in a sense that it involves multiple organs of the body and mimics with other diseases as well. Th is study focused on the distribution of HLA alleles in SLE patients with ACE I/D Polymorphism. A total of individuals were enrolled in this study, were the SLE patients who fulfi lled revised ACR criteria and were the healthy controls. Mean age of SLE patients at diagnosis was . ± . years (Range: - years). ACE gene I/D polymorphism was performed by nested PCR and DNA based HLA typing technique was used. ACE gene I/D polymorphism of Intron was studied and found to be involved in the activity of SLE. Th ere is high frequency
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