title: Association of Fas Ligand gene polymorphism with Stevens-Johnson syndrome.
abstract: BACKGROUND
  Stevens-Johnson syndrome (SJS) and toxic epidermal necrolysis (TEN) are acute severe blistering diseases of the skin and also two of the most devastating ocular surface diseases leading to corneal damage and loss of vision. The extreme rarity of cutaneous and ocular surface reactions to drug therapies led us to suspect individual susceptibility. SJS/TEN patients in the acute stage were reported to manifest increased serum levels of Fas Ligand (FasL). Thus, we performed SNP association analysis of the FasL gene.
  
  
  METHODS
  In 76 Japanese SJS/TEN patients with ocular surface complications and 160 Japanese healthy controls, we examined four SNPs of FasL reported in the Japanese Single Nucleotide Polymorphisms (JSNP) database by sequencing.
  
  
  RESULTS
  The SNP rs.3830150 A/G showed a significant strong inverse association with SJS/TEN. Analysis of the genotype pattern of SNPs rs.3830150 and rs.2639614 (rs.3830150 A/A-rs.2639614 G/G) also manifested a strong inverse association with SJS/TEN.
  
  
  CONCLUSIONS
  FasL gene polymorphisms might be associated with SJS/TEN.
authors.affiliation: Department of Ophthalmology, Kyoto Prefectural University of Medicine, Hirokoji, Kawaramachi, Kamigyoku, Kyoto 602-0841, Japan. mueta@ophth.kpu-m.ac.jp
authors.forename: M
authors.initials: M
authors.lastname: Ueta
authors.forename: C
authors.initials: C
authors.lastname: Sotozono
authors.forename: T
authors.initials: T
authors.lastname: Inatomi
authors.forename: K
authors.initials: K
authors.lastname: Kojima
authors.forename: J
authors.initials: J
authors.lastname: Hamuro
authors.forename: S
authors.initials: S
authors.lastname: Kinoshita
mesh_terms: D000328:Adult; D000368:Aged; D016022:Case-Control Studies; D053222:Fas Ligand Protein / Q000235:genetics*; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D006801:Humans; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D013262:Stevens-Johnson Syndrome / Q000235:genetics*
chemical_list: D053222:Fas Ligand Protein