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The Association between Silent Mating Type Information Regulator 2 Homolog 1 (SIRT1) Gene Polymorphism and Systemic Lupus Erythromatosis (SLE)


 
 
 Systemic lupus erythematosus (SLE) is a chronic severe multisystem autoimmune disease that affects multiple organs being characterized by heterogeneous manifestations that may affect the skin, joint, heart, brain, kidney, hematopoietic and central nervous systems. It is characterized by autoantibody production for a variety of self-antigens, but it is specifically associated with anti-double stranded DNA (anti-dsDNA), and immune complex deposition. The Silent Mating Type Information Regulator 2 Homolog 1 (SIRT1) is a NAD-dependent deacetylase enzyme that plays an important role in regulating a variety of cellular processes, such as energy metabolism, cell-cycle progression, apoptosis, aging, immune system regulation and inflammation.
 
 
 
 The aim of the present study is to investigate the association of SIRT1 rs3758391 gene polymorphism with SLE and to study its impact on disease progression to lupus nephritis.
 
 
 
 This is a case control study conducted at Ain Shams University Hospital, with a total of 50 participants including 34 patients diagnosed with SLE in addition to 16 age and sex matched individuals serving as a healthy control group.
 
 
 
 The results revealed no significant difference between the SLE patients and the controls as regards CC, CT and TT genotypes, yet there was a statistical significant difference between both groups as regards the C and T alleles.
 
 
 
 The present study highlights that SIRT1 gene rs3753891 does not seem to influence lupus nephritis susceptibility and disease activity as indicated by Systemic Lupus Erythematosus Disease Activity Index (SLEDAI) scoring. However, T allele may be a risk factor for lupus susceptibility.
