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[日本伴有眼表并发症的史蒂文斯-约翰逊综合征患者的人类白细胞抗原I类基因多态性]

[HLA-class I gene polymorphisms in Japanese Stevens-Johnson syndrome patients with ocular surface complications].

作者信息

Nakaji Shinnosuke, Ueta Mayumi, Sotozono Chie, Inatomi Tsutomu, Kinoshita Shigeru

机构信息

Department of Ophthalmology, Kyoto Prefectural University of Medicine, Kyoto, Japan.

出版信息

Nippon Ganka Gakkai Zasshi. 2012 Jun;116(6):581-7.

PMID:22774598
Abstract

PURPOSE

Our previous study of polymorphisms in the HLA-class I genes of 71 Japanese SJS/TEN patients with ocular surface complications and 113 Japanese healthy controls showed that in the Japanese, HLA-A*0206 was strongly associated with SJS/ TEN. In this study, we examined 118 Japanese SJS/ TEN patients with ocular surface complications and a new control group consisting of 220 healthy Japanese volunteers, and investigated the association between HLA class I antigens, HLA-A, B, C, and the SJS/ TEN.

METHODS

For HLA genotyping we enrolled 118 Japanese patients with SJS/TEN in the chronic or sub-acute phase at Kyoto Prefectural University of Medicine; all presented with ocular surface complications. We also enrolled 220 healthy Japanese volunteers. We performed polymerase chain reaction amplification followed by hybridization with sequence-specific oligonucleotide probes (PCR-SSO). Results : HLA-A*0206 was most strongly associated with Japanese SJS/TEN patients with ocular surface complications (carrier frequency: p = 0.0000000002, OR = 5.2; gene frequency : p = 0.000000007, OR = 4.2).

CONCLUSION

HLA-A* 0206 is strongly associated with Japanese SJS/TEN patients with ocular surface complications.

摘要

目的

我们之前对71例患有眼表并发症的日本中毒性表皮坏死松解症/重症多形红斑(SJS/TEN)患者和113名日本健康对照者的HLA-Ⅰ类基因多态性进行的研究表明,在日本人中,HLA-A*0206与SJS/TEN密切相关。在本研究中,我们对118例患有眼表并发症的日本SJS/TEN患者以及由220名日本健康志愿者组成的新对照组进行了研究,并调查了HLA-Ⅰ类抗原、HLA-A、B、C与SJS/TEN之间的关联。

方法

为进行HLA基因分型,我们纳入了京都府立医科大学处于慢性或亚急性期的118例日本SJS/TEN患者;所有患者均有眼表并发症。我们还纳入了220名日本健康志愿者。我们进行了聚合酶链反应扩增,随后与序列特异性寡核苷酸探针杂交(PCR-SSO)。结果:HLA-A*0206与患有眼表并发症的日本SJS/TEN患者关联最为密切(携带频率:p = 0.0000000002,比值比[OR]=5.2;基因频率:p = 0.000000007,OR = 4.2)。

结论

HLA-A*0206与患有眼表并发症的日本SJS/TEN患者密切相关。

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Independent strong association of HLA-A*02:06 and HLA-B*44:03 with cold medicine-related Stevens-Johnson syndrome with severe mucosal involvement.与严重黏膜受累的感冒药相关 Stevens-Johnson 综合征独立的 HLA-A*02:06 和 HLA-B*44:03 强关联性。
Sci Rep. 2014 Apr 30;4:4862. doi: 10.1038/srep04862.