Journal of Life Science (생명과학회지)

Korean Society of Life Science (한국생명과학회)
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Deletion Polymorphism of UGT2B17 and Its Relation to Lung Cancer

UGT2B17 유전자의 deletion polymorphism과 폐암과의 연관성

  • Lee, Se-Ra (Department of Biological Science, Dong-A University) ;
  • Ahn, Myoung-Hyun (Department of Biological Science, Dong-A University) ;
  • Seol, So-Young (Department of Biological Science, Dong-A University) ;
  • Lee, Ji-Sun (Department of Biological Science, Dong-A University) ;
  • Chung, Chung-Nam (Department of Biological Science, Dong-A University) ;
  • Leem, Sun-Hee (Department of Biological Science, Dong-A University)
  • 이세라 (동아대학교 자연과학대학 생명과학과) ;
  • 안명현 (동아대학교 자연과학대학 생명과학과) ;
  • 설소영 (동아대학교 자연과학대학 생명과학과) ;
  • 이지선 (동아대학교 자연과학대학 생명과학과) ;
  • 정정남 (동아대학교 자연과학대학 생명과학과) ;
  • 임선희 (동아대학교 자연과학대학 생명과학과)
  • Received : 2010.01.20
  • Accepted : 2010.03.16
  • Published : 2010.05.31
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Abstract

Glucuronidation is a major pathway for NNAL [4-(methylnitrosamno)-1-(3-pyridyl)-1-butanol] and UGT2B17 (UGT, uridine diphospho-glucuronosyltransferase) is from the UGT2B family that glucuronidates carcinogens. UGT2B17 deletion was associated with decreased levels of NNAL and with increased risk of some cancers. The UGT2B17 gene varies in copy number from zero to two per individual in humans. To examine whether UGT2B17 gene deletion is associated with the risk of lung cancer, we investigated copy number variants (CNV) in 271 cancer-free controls and 176 cases of lung cancer in Koreans by a PCR-based method. The frequency of the UGT2B17 deleted alleles was much higher than in other Caucasian and African-American groups which have already been reported. While only up to 10% of Caucasians have zero copies of the gene, up to 74% of Koreans in this study showed that both copies of the gene were deleted. Furthermore, the overall frequency of this dual deletion in female groups was higher than in male groups. However, there was no association between CNV in UGT2B17 and lung cancer. This result suggested that the UGT2B17 deletion allele was not associated with the susceptibility of lung cancers in the Korean group. However, this UGT2B17 CNV polymorphism may be a useful marker for evolutionary analysis among races.

Glucuronidation은 NNAL [4-(methylnitrosamno)-1-(3-pyridyl)-1-butanol]의 주요 pathway이며, UGT2B의 family인 UGT2B17 (UGT, uridine diphospho-glucuronosyltransferase) 유전자는 발암원의 glucuronidation에 관여 한다. UGT2B17 결손은 NNAL의 감소 수준과 특정 암에 있어 위험도를 증가시킨다. UGT2B17 유전자의 copy 수는 사람에서 개인별로 0~2로 다양하다. 본 연구에서는 UGT2B17 결손이 폐암의 위험도와 연관성을 가지는 가를 알아보기 위해 한국인인 271명의 대조군과 176명의 폐암환자의 샘플로 PCR 방법으로 CNV를 조사하였다. 그 결과, 현재까지 보고된 백인과 흑인에 비해 한국인에서 결실 대립형질이 현저히 높게 나타났다. 백인에서 유전자 두 개 모두가 결실된 0 copy 수가 약 10%를 나타낸 것에 비해, 본 연구의 한국인에서는 0 copy 수가 약 74%를 나타내었다. 더욱이 양 쪽 결실이 여성그룹에서 전반적으로 남성그룹에 비해 높게 나타났다. 그러나 UGT2B17 유전자가 CNV와 폐암과의 연관성은 찾을 수 없었다. 이러한 결과는 UGT2B17 유전자의 결실이 폐암의 감수성과는 연관되어 있지 않으나, UGT2B17 CNV 다형성이 인종간의 진화적 분석의 유용한 마커로 사용이 가능할 것으로 사료된다.

Keywords

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