敗血症の転帰に影響を与える遺伝子多型

• 島田 忠長

  千葉大学大学院医学研究院救急集中治療医学

• 中田 孝明

  千葉大学大学院医学研究院救急集中治療医学

• 織田 成人

  千葉大学大学院医学研究院救急集中治療医学

書誌事項

タイトル別名

• Genetic polymorphisms in sepsis

抄録

Severe sepsis and septic shock are the leading causes of death in intensive care units, and hence, in order to reduce mortality rates there is a great need for new discoveries. Genetic factors have been reported to alter clinical outcome of sepsis, and single nucleotide polymorphisms (SNPs) associations have been shown using cohorts of patients who had sepsis in various ethnicities. However, genetic studies for Japanese patients with sepsis are insufficiently powered for the development of personalized medicine. Therefore, we reviewed evidences reported in genetic polymorphisms studies that tested for genetic effect on clinical outcome of sepsis using cohorts with n >100 and reported after the year 2000 to develop personalized medicine for sepsis in Japan. Genetic variations in innate immunity, cytokine, chemokine, coagulation system, hormone, water channel and immunoglobulin have been interrogated. Of these genetic polymorphisms, TLR1, IL-1 receptor-associated kinases (IRAKs), NF-κB inducing kinase (NIK), nucleotide-binding oligomerization domain 2 (NOD2), IL-17A, protein C (PROC), β2-adrenergic receptor (ADRB2) and angiotensin II type 1 receptor-associated protein (AGTRAP) are significantly associated with an altered clinical outcome of sepsis in at least 2 separate cohorts. In addition, there is a large body of single cohort studies in which significant associations between SNPs and altered clinical outcome of sepsis have been reported as a hypothesis generating results, such as Mannose binding lectin and CXCL 2 polymorphisms with need for further validation. The genotypic frequencies of polymorphisms can vary across ethnicities, and the frequencies of functional SNPs that alter clinical outcome are no exception. In order to avoid population stratification effects due to differences in allele frequencies across different ethnicities, further genetic studies using Japanese patients are essential to achieve personalized medicine for these patients in need.

収録刊行物

• 日本救急医学会雑誌

  日本救急医学会雑誌 24 (1), 1-11, 2013

  一般社団法人 日本救急医学会

キーワード

• 一塩基多型
• 自然免疫
• 個別化治療

詳細情報

• CRID: 1390282679345205888
• NII論文ID: 130004840941
• DOI: 10.3893/jjaam.24.1
• ISSN: 18833772
• ISSN: 0915924X
• Web Site: https://search.jamas.or.jp/link/ui/2013204586
• 本文言語コード: ja
• データソース種別:
  • JaLC
  • Crossref
  • CiNii Articles
  • KAKEN
• 抄録ライセンスフラグ: 使用不可