Singh, RichaPradhan, VandanaPatwardhan, ManishaGhosh, K2012-06-082012-06-082009-09Singh Richa, Pradhan Vandana, Patwardhan Manisha, Ghosh K. APO-1/Fas gene: Structural and functional characteristics in systemic lupus erythematosus and other autoimmune diseases. Indian Journal of Human Genetics. 2009 Sept; 15(3): 98-102.http://imsear.searo.who.int/handle/123456789/138880Systemic lupus erythematosus (SLE) is an autoimmune disorder affecting multiple organ systems. It is characterized by the presence of autoantibodies reactive against various self-antigens. Susceptibility to SLE is found to be associated with many major histocompatibility complex (MHC) and non-MHC genes, one of which is APO-1/Fas gene, which is present on chromosome 10 in humans. The APO-1/Fas promoter contains consensus sequences for binding of several transcription factors that affect the intensity of Fas expression in cells. The mutations in the APO-1/Fas promoter are associated with risk and severity in various autoimmune diseases and other malignancies. The APO-1/Fas receptor is expressed by many cell types. Two forms of APO-1/Fas protein that are involved in regulation of apoptosis have been identified. Fas receptor-mediated apoptosis plays a physiological and pathological role in killing of infected cell targets. In this review, we have focused on APO-1/Fas gene structure, promoter variants and its association with SLE and other autoimmune diseases. Functional aspects of Fas receptor in apoptosis are also discussed.enAPO-1/Fas promoterautoimmune diseasessystemic lupus erythematosusAdolescentAdultAntigens, CD95 --geneticsApoptosis --geneticsAutoimmune Diseases --geneticsChromosomes, Human, Pair 10 --geneticsFemaleHumansLupus Erythematosus, Systemic --epidemiologyLupus Erythematosus, Systemic --geneticsRecombinant Fusion Proteins --geneticsArticle