Journal of Genetic Medicine

Korean Society of Medical Genetics and Genomics (대한의학유전학회)
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Genetic Polymorphism in Corticotropin-releasing Hormone Receptor Type-1 in Preeclamptic Korean Women

  • Lim, Ji-Hyae (Laboratory of Medical Genetics, Cheil General Hospital and Women's Healthcare Center) ;
  • Kim, Shin-Young (Laboratory of Medical Genetics, Cheil General Hospital and Women's Healthcare Center) ;
  • Park, So-Yeon (Laboratory of Medical Genetics, Cheil General Hospital and Women's Healthcare Center) ;
  • Kim, Do-Jin (Laboratory of Medical Genetics, Cheil General Hospital and Women's Healthcare Center) ;
  • Kim, Mi-Jin (Laboratory of Medical Genetics, Cheil General Hospital and Women's Healthcare Center) ;
  • Ahn, Hyun-Kyong (Department of Obstetrics and Gynecology, Cheil General Hospital and Women's Healthcare Center, Kwandong University College of Medicine) ;
  • Han, Jung-Yeol (Department of Obstetrics and Gynecology, Cheil General Hospital and Women's Healthcare Center, Kwandong University College of Medicine) ;
  • Kim, Moon-Young (Department of Obstetrics and Gynecology, Cheil General Hospital and Women's Healthcare Center, Kwandong University College of Medicine) ;
  • Park, Hyun-Young (Division of Cardiovascular Disease, Center for Biomedical Sciences, National Institute of Health) ;
  • Lee, Kwang-Soo (Division of Cardiovascular Disease, Center for Biomedical Sciences, National Institute of Health) ;
  • Kim, Young-Ju (Department of Obstetrics and Gynecology, MokDong Hospital, Ewha Womans University College of Medicine) ;
  • Ryu, Hyun-Mee (Laboratory of Medical Genetics, Cheil General Hospital and Women's Healthcare Center)
  • Received : 2011.10.21
  • Accepted : 2011.12.16
  • Published : 2011.12.31
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Abstract

Purpose: Placental corticotropin-releasing hormone receptor type 1 (CRHR1) expression is reduced in pregnancies with abnormal placental function such as preeclampsia (PE), and the levels and/or function of CRHR1 are genetically influenced. The aim of this study was to investigate the association between the c.33+8199C>T polymorphism in the CRHR1 gene and PE in a Korean population. Materials and Methods: Using a case-control design, the association between the CRHR1 polymorphism and the risk of PE was investigated in 203 individuals with PE and 211 normotensive controls. Genotypes were determined using a SNapShot kit and an ABI Prism 3100 Genetic analyzer. Results: Genotypes and allele frequencies for the CRHR1 polymorphism did not differ between PE and normotensive pregnancies. The variant T allele was more frequent than the ancestral C allele in both of the groups and was more frequent in the controls than in the cases. In risk analysis for PE, there was not an increased risk of preeclampsia in subjects who were concomitant homozygous rare allele genotypes (CC) (OR, 0.3; P=0.15) or heterozygous rare allele genotypes (TC) (OR, 0.8; P=0.29). There were no differences in the complications of PE such as severity or preterm delivery in patients with the CRHR1 polymorphism. Conclusion: Our findings indicate that the CRHR1 polymorphism was not associated with PE in the present Korean study group.

목적: Corticotropin-releasing hormone receptor type 1(CRHR1)은 자간전증과 같은 비정상적인 태반의 기능을 가지는 산모에서 감소되어 나타나며, 그것의 발현이나 기능은 유전적으로 영향을 받는다. 이번 연구의 목표는 한국인에서 CRHR1 유전자 다형성인 c.33+8199C>T과 자간전증 사이의 연관성을 조사하는 것이었다. 대상 및 방법: CRHR1 유전자 다형성은 SNapShot kit와 ABI Prism3100 Genetic analyzer를 이용하여 203명의 자간전증 임산부와 211명의 정상 임산부에서 측정되었고, 유전자 다형성과 자간전증 위험도 사이의 연관성을 분석하였다. 결과: CRHR1 유전자 다형성의 유전자형과 대립유전자 빈도는 자간전증 임산부와 정상 임산부 사이에 다르지 않았다. 자간전증 발생 위험도는 분석된 유전자 다형성의 드문 대립 형질(C)을 지닌 이종접합 유전자형(TC)이나 동형접합 유전자형(CC)을 수반하는 그룹에서 증가되지 않았다. CRHR1 유전자의 동형접합 유전자형(CC)을 수반하는 그룹에서 중증 자간전증과 조기 자간전증과 같은 자간전증의 합병증 발병 위험에도 차이가 없었다. 결론: 이 연구는CRHR1 유전자 다형성인 c.33+8199C>T가 한국인 임신부의 자간전증 발생과 연관이 없음을 나타낸다.

Keywords

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