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Genetic Polymorph isms and Haplotype Analysis of Sweet Taste Receptor TAS1R2 Gene in the Korean Population

한국인의 단맛수용체유전자 TAS1R2 다형성분석 및 일배체형 연구

  • Lee, Hye-Jin (Department of Biology, Kyungpook National University) ;
  • Bae, Jae-Woong (Department of Biology, Kyungpook National University) ;
  • Kwon, Tae-Jun (Department of Biology, Kyungpook National University) ;
  • SaGong, Bo-Rum (Department of Biology, Kyungpook National University) ;
  • Kim, Un-Kyung (Department of Biology, Kyungpook National University)
  • Received : 2010.01.04
  • Accepted : 2010.01.25
  • Published : 2010.03.30

Abstract

Sweetness plays an important role in providing calories and promoting appetite for food. Since it has been known that genetic factor(s) is involved in individual differences in taste sensitivity in humans, this study aimed to examine genetic variations of the TAS1R2 gene, one of the components for tasting sweet compounds, by using DNA sequencing analysis from 98 unrelated Korean subjects. As a result, 12 different single nucleotide polymorphisms (SNPs) were identified in the hTAS1R2 gene and most of them were nonsynonymous. Also, two novel SNPs were found for the first time in this study. It was noted that the frequencies of these SNPs were common in the Korean population. 20 different haplotypes with coding SNPs (cSNPs) were also found in this study. Three out of these haplotypes were common, showing frequencies of > 10%. The repertoire and frequencies of cSNPs and haplotypes in the hTAS1R2 gene will provide information that will help identify a functional ligand receptor common in the Korean population.

단맛은 인간이 느낄 수 있는 다섯 가지 감각 중 하나로, 열량을 제공하며 식욕을 결정하는데 중요한 요인이다. 인간이 맛물질을 느끼는 민감도 차이에 유전적인 요인이 중요한 역할을 한다는 사실이 알려진 바, 본 연구에서는 한국인 98명을 대상으로 단맛을 결정하는 미각수용체 TAS1R2 유전자에 대해 염기서열분석법을 이용한 단일염기 다형성 종류 및 빈도, 그리고 일배체형 분석을 수행하였다. 그 결과, TAS1R2 유전자로부터 총 12종류의 SNP이 검출되었으며 약 70%는 아미노산 치환을 일으키는 변이로 확인되었다. 특히, 231번째와 950번째 변이는 본 연구를 통해 처음으로 발견된 새로운 것으로 한국인 집단에서 특이적으로 존재하는 SNP일 가능성이 높다고 판단된다. 일배체형 분석결과에 따르면, 발견된 20 종류 일배체형 중 세 가지가 주로 한국인이 가지는 것으로 확인되었다. 본 연구결과 발견된 TAS1R2 유전자의 SNP은 향후 단맛물질을 감지하는 인간의 민감도차이를 결정하는데 유전적 요인으로 작용하는지 알아보는데 중요한 기초자료를 제시해 주리라 생각되며 맞춤형 식단 등 영양유전학 분야에 응용될 수 있을 것이다.

Keywords

References

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