생명과학회지 (Journal of Life Science)

  • 제18권4호
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  • Pages.427-434
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  • 2008
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  • 1225-9918(pISSN)
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  • 2287-3406(eISSN)
한국생명과학회 (Korean Society of Life Science)
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한국인에서 HMG-CoA reductase 유전자다형성과 대퇴골두무혈성괴사증과의 연관성 분석

Polymorphisms of 3-hydroxy-3-methylglutaryl Coenzyme A Reductase Gene Are Not Associated with the Osteonecrosis of Femoral Head in Korean

  • 김태호 (경북대학교병원 골격계질환유전체연구센터, 경북대학교 의학과) ;
  • 홍정민 (경북대학교병원 골격계질환유전체연구센터) ;
  • 이상한 (경북대학교 식품공학과) ;
  • 박의균 (경북대학교병원 골격계질환유전체연구센터, 경북대학교 치과대학 병리 및 재생의학교실) ;
  • 김신윤 (경북대학교병원 골격계질환유전체연구센터, 경북대학교 정형외과학교실)
  • Kim, Tae-Ho (Skeletal Diseases Genome Research Center, Kyungpook National University, Department of Medicine, Kyungpook University School of Medicine) ;
  • Hong, Jung-Min (Skeletal Diseases Genome Research Center, Kyungpook National University) ;
  • Lee, Sang-Han (Department of Food Science & Biotechnology, Kyungpook National University) ;
  • Park, Eui-Kyun (Skeletal Diseases Genome Research Center, Kyungpook National University, Department of Pathology and Regenerative Medicine, School of Dentistry, Kyungpook National University) ;
  • Kim, Shin-Yoon (Skeletal Diseases Genome Research Center, Kyungpook National University, Department of Orthopedic Surgery, Kyungpook National University School of Medicine)
  • 발행 : 2008.04.30
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초록

대퇴골두무혈성괴사증은 다원적인 질병으로 특정 집단의 경우 더 많은 위험성을 내포하고 있다. 특히 스테로이드의 과용과 알코올 남용 등으로 인한 지질대사의 변화는 골괴사증의 주요 원인 중 하나이다. 본 연구는 골괴사 환자와 대조군 사이에서 HMG-CoA reductase 유전자의 다형성과 질환발생과의 연관성에 대해 알아보았다. 24명의 한국인을 대상으로 HMG-CoA reductase 유전자를 시퀀싱하여 5곳의 유전자 다형성을 확인하였다. 349명의 남성 환자와 300명의 남성 대조군을 대상으로 네 곳(-6933C>T, -6045T>G, +12673G>A, +18128C>T)의 유전자다형성의 빈도를 비교하였다. 그 결과 HMG-CoA reductase 유전자의 다형성과 질환발생 및 혈장 지질농도와는 어떠한 상관관계도 보이지 않았다.

Osteonecrosis of the femoral head (ONFH) is a multifactorial disease and certain individuals are more at risk or may be predisposed to it. An altered lipid metabolism is one of the major risk factors for osteonecrosis, especially corticosteroid therapy and alcoholism. 3-hydroxy-3-methylglutaryl coenzyme A. (HMG-CoA) reductase inhibitors, stalin used as lipid-clearing agent, have been known to decrease the risk of osteonecrosis in patients receiving steroids and affect coagulation and fibrinolysis. Therefore we evaluated the association of HMG-CoA reductase gene polymorphisms and haplotypes between osteonecrosis patients and normal controls. We directly sequenced the HMG-CoA reductase gene in 24 Korean individuals, and identified five sequence variants. Four SNPs (-6933C>T, -6045T>G, +12673G>A, and +18128C>T) were selected and genotyped in 349 male ONFH patients and 300 male control subjects. The genotypes, allele frequencies, and haplotypes of the polymorphisms in the total patients as well as in the subgroup by etiology were not significantly different from those in the control group. In addition, no significant differences between each genotype of the polymorphisms and plasma lipid level could be found in the control group. These results suggest that the polymorphisms and haplotypes of HMG-CoA reductase gene are unlikely to be associated with a susceptibility to ONFH.

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