Ueta M, Sotozono C, Inatomi T, Kojima K, Hamuro J, Kinoshita S
Department of Ophthalmology, Kyoto Prefectural University of Medicine, Hirokoji, Kawaramachi, Kamigyoku, Kyoto 602-0841, Japan.
Br J Ophthalmol. 2008 Jul;92(7):989-91. doi: 10.1136/bjo.2007.136796.
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.
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.
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.
FasL gene polymorphisms might be associated with SJS/TEN.
史蒂文斯-约翰逊综合征（SJS）和中毒性表皮坏死松解症（TEN）是皮肤急性重症水疱性疾病，也是导致角膜损伤和视力丧失的两种最具破坏性的眼表疾病。药物治疗引起的皮肤和眼表反应极为罕见，这使我们怀疑存在个体易感性。据报道，处于急性期的SJS/TEN患者血清中Fas配体（FasL）水平升高。因此，我们对FasL基因进行了单核苷酸多态性（SNP）关联分析。
我们对76例患有眼表并发症的日本SJS/TEN患者和160例日本健康对照者，通过测序检测了日本单核苷酸多态性（JSNP）数据库中报道的FasL的四个SNP。
SNP rs.3830150 A/G与SJS/TEN呈显著的强负相关。对SNP rs.3830150和rs.2639614（rs.3830150 A/A - rs.2639614 G/G）的基因型模式分析也显示与SJS/TEN呈强负相关。
FasL基因多态性可能与SJS/TEN有关。
