title: APO1/F AS promoter polymorphism in systemic lupus erythematosus (SLE): significance in clinical expression of the disease.
abstract: OBJECTIVE
  To identify APO1/FAS promoter (-670A/G) genotypes in Indian Systemic Lupus Erythematosus (SLE) patients and correlate with clinical presentation and serum FAS (sFAS) levels.
  
  
  METHODS
  Seventy clinically diagnosed SLE patients and seventy healthy normals were included. SLE patients were classified according to the American College of Rheumatology (ACR) criteria. Disease severity was assessed by Systemic Lupus Erythematosus Disease Activity Index (SLEDAI). PCR-RF LP method was used to detect -670A/G APO1/FAS promoter polymorphisms. sFASLEvels were detected by ELISA.
  
  
  RESULTS
  Out of 70 SLE patients, 35 were LN and remaining 35 were Non- LN. SLEDAI score was higher in LN patients (6-32) as against in Non-LN patients (6-23). Among SLE patients APO1/F AS promoter polymorphisms (A/G) showed highest frequency (54%), followed by A/A (31%) and G/G (15%) as compared to 60%, 10% and 30% respectively among normal population. Among SLE patients AA genotype showed statistically significant association against normals and 47% patients with A/A genotype showed severe clinical presentation (SLEDAI > 18). Mean sFASLEvels in SLE patients were 4771.5 +/- 3280.9 pg/ml as compared to 1131.4 +/- 375.8 pg/ml in normals. Among SLE patients showing positivity for sFAS, 57.5% had A/G genotype, 27.5% had A/A genotype and 15% had G/G genotypes.
  
  
  CONCLUSIONS
  This study showed a significant association of A/A genotype with severe clinical presentation in Indian SLE patients where sFAS might influence the severity and extent of organ involvement. Still a larger study is needed to support these findings.
authors.affiliation: Department of Autoimmune Disorders, National Institute of Immunohaematology Indian Council of Medical Research, 13th floor, KEM Hospital, Parel, Mumbai 400 012.
authors.forename: Vandana D
authors.initials: VD
authors.lastname: Pradhan
mesh_terms: D000293:Adolescent; D000328:Adult; D044466:Asian People / Q000235:genetics; D016022:Case-Control Studies; D003430:Cross-Sectional Studies; D005260:Female; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D008180:Lupus Erythematosus, Systemic / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D011401:Promoter Regions, Genetic / Q000235:genetics*; D012720:Severity of Illness Index; D055815:Young Adult; D019014:fas Receptor / Q000235:genetics*
chemical_list: C491901:FAS protein, human; D019014:fas Receptor