Journal of Genetic Medicine

Korean Society of Medical Genetics and Genomics (대한의학유전학회)
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Genetics of Pre-eclampsia

  • Kim, Shin-Young (Laboratory of Medical Genetics, Cheil General Hospital and Women's Healthcare Center, Kwandong University College of Medicine) ;
  • Ryu, Hyun-Mee (Laboratory of Medical Genetics, Cheil General Hospital and Women's Healthcare Center, Kwandong University College of Medicine)
  • Received : 2011.06.07
  • Accepted : 2011.06.17
  • Published : 2011.03.01
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Abstract

Pre-eclampsia is a major cause of maternal and perinatal mortality and morbidity worldwide, but remains unclear about the underlying disease mechanisms. Pre-eclampsia is currently believed to be a two-stage disease. The first stage involves shallow cytotrophoblast invasion of maternal spiral arteriole, resulting in placental insufficiency. The hypoxic placenta release soluble factors, cytokines, and trophoblastic debris into maternal circulation, which induce systemic endothelial damage and dysfunction. This cause the second stage of the disease: maternal syndrome. Epidemiological research has consistently demonstrated a familial predisposition to pre-eclampsia. Intensive research efforts have been made to discover susceptibility genes that will inform our understanding of the pathophysiology of preeclampsia and that may provide direction for therapeutic or preventative strategies. In this review, we summarize the current understanding of the role of genetic factors in the pathophysiology of pre-eclampsia and explain the molecular approach to search for genetic clues in pre-eclampsia.

자간전증은 전세계적으로 모성 및 주산기 사망과 이환의 주된 원인이나 아직까지 병인기전은 명확하게 규명되지 않은 실정이다. 자간전증은 일반적으로 두 단계 질환으로 알려져 있으며, 그 임상의 첫 단계는 모체의 나선동맥의 얕은 세포영양아층 침투에 의한 태반 부전이 발생한다. 태반 부전에 의한 허혈성 태반이 모체의 순환 혈류 내로 용해성 인자와 싸이토카인, 영양막 조직파편을 유리하면, 전신적인 내피세포 손상 및 기능 부전을 야기하고, 이로 인하여 자간전증 이차 단계인 모체 증후군이 나타난다. 역학적 연구에서 자간전증에 대한 유전적 소인이 일관되게 증명되었다. 집중적 연구 노력에 의한 감수성 유전자 발견은 자간전증의 병태생리를 이해하는데 있어서 유용한 정보를 줄 것이며 자간전증의 치료 및 예방 방법에 대한 방향을 제시할 것이다. 본 주제에서는 자간전증의 병태생리에 있어서 유전적 요인의 역할에 대한 최신 이해를 요약하고 자간전증의 유전적 실마리를 찾기 위한 분자적 접근에 대해 설명하고자 한다.

Keywords

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