Environmental Analysis Health and Toxicology

The Korean Society of Environmental Health and Toxicology (환경독성보건학회)
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Lack of Association of the Mitochondrial DNA 5178 A/C Polymorphism with Hypertension in a Korean Population

한국인 집단에서 사립체 DNA에 존재하는 5178 A/C 다형성과 고혈압과의 관련성에 관한 연구

  • Published : 2003.03.01
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Abstract

고혈압은 다양한 유전적 요인과 환경적 요인이 상호작용하는 다인자성 질환으로 알려져 있으며, 최근의 연구에 의하면 사립체 DNA에 존재하는 유전적 다형성이 고혈압과 유의한 관련성을 나타낸다는 보고가 있다. 이에 본 연구에서는 한국인 집단을 대상으로 하여 사립체 DNA의 5178번째 위치의 염기서열에 존재하는 A/C 다형성이 고혈압과 관련성을 나타내는 지를 분석하였다. 환자-대조군 연구를 수행한 결과, 사립체 DNA의 5178번째 위치에 존재하는 다형성의 대립 유전자 빈도는 한국인에서 고혈압군과 정상 혈압군 사이에 유의한 차이를 나타내지 않았다. 따라서, 이 다형성은 적어도 한국인에 대해서는 고혈압에 유의하게 영향을 미치는 유전적 소인은 아닌 것으로 사료된다.

Keywords

References

  1. Anderson S, Bankier AT, Barrel BG, DeBruijin M, Coulson AR, Drouin J, Eperon IC, Nierlich DP, Roe BA, Sanger F, Schreier PH, Smith A, Staden R and Young IG. Sequence and organization of the human mitochondrial genome, Nature 1981; 290: 457-465 https://doi.org/10.1038/290457a0
  2. Bae JS, Kang BY, Lee KO, Yoon TJ, Kim JH and Kim KT. Haplotype distribution of the ${\beta}_2-adrenergic$ receptor gene in Korean essential ypertensives. J. Toxicol. Pub. Health. 2002; 18: 233-240
  3. Biron P, Mongeau JG and Bertrand D. Familial aggregation of blood pressure in 558 adopted children, Can. Med. Assoc. J. 1976; 115: 773-774
  4. Bostein D, White RL, Skolnick M and Davis RW. Construction of a genetic linkage map in man using restriction fragment length polymorphisms, Am. J. Hum. Genet. 1980; 32: 314-331
  5. Cann RL, Stoneking M and Wilson AC. Mitochondrial DNA and human evolution. Nature 1987; 325: 31-36 https://doi.org/10.1038/325031a0
  6. Casari G, Barlassina C, Cusi D, Zagato L, Muirhead R, Righetti M, Nembri P, Amar K, Gatti M, Macciardi F, Binelli G and Bianchi G, Association of the ${\alpha}-adducin$ locus with essential hypertension, Hypertension 1995; 25: 320-326 https://doi.org/10.1161/01.HYP.25.3.320
  7. Cusi D, Barlassina C, Azzani T, Casari G, Citterio L, Devoto M, Glorioso N, Lanzani C, Manunta P, Righetti M, Rivera R, Stella P, Troffa C, Zagato L and Bianchi G. Polymorphisms of $\alpha$-adducin and salt sensitivity in patients with essential hypertension, Lancet 1997; 349: 1353-1357
  8. Dahl H-HM and Thorburn DR. Mitochondrial diseases: beyond the magic circle, Am. J. Med. Genet. 2001; 106: 1-3 https://doi.org/10.1002/ajmg.1427
  9. Dimauro S and Schon EA. Mitochondrial DNA mutations in human disease, Am. J. Med. Genet. 2001; 106: 18-26 https://doi.org/10.1002/ajmg.1392
  10. Fridewald WT, Levy RI and Friedrickson DS. Estimation of the concentration of low-density lipoprotein cholesterol in plasma without the use of the preparative ultracentrifuge, Clin. Chern. 1972; 18: 499-502
  11. Frossard PM, Obineche EN, Elshahat YI, Lestringant GG, John A and Parvez SH. Association study of mutation $G^{-75}$ to A in the promoter of the human apolipoprotein AI gene and essential hypertension, Biogenic Amines 1998; 14: 91-100
  12. Inoue I, Nakajima T, Williams CS, Quackenbush J, Puryear R, Powers M, Cheng T, Ludwig EH, Sharma AM, Hata A, Jeunemaitre X and Lalouel JM. A nucleotide substitution in the promoter of human angiotensinogen is associated with essential hypertension and affects basal transcription in vitro, J. Clin. Invest. 1997; 99: 1786-1797 https://doi.org/10.1172/JCI119343
  13. Jeunemaitre X, Soubrier F, Kotelevtsev Y, Lifton R, Williams C, Charm A, Hunt S, Hopkins P, Williams R, Lalouel JM and Corvol P. Molecular basis of human hypertension: the role of angiotensinogen, Cell 1992; 71: 169-180 https://doi.org/10.1016/0092-8674(92)90275-H
  14. Kokaze A, Ishikawa M, Matsunaga N, Yoshida M, Sekine Y, Teruya K, Takeda N, Satoh M, Sumiya Y, Uchida Y and Takashima Y. Association of the longevity-associated mitochondrial DNA 5178 A/C polymorphism with serum protein fraction levels in healthy Japanese women, Exp. Gerontol. 2002; 37: 931-936 https://doi.org/10.1016/S0531-5565(02)00032-3
  15. Kokaze A, Ishikawa M, Matsunaga N, Yoshida M, Sekine Y, Teruya K, Takeda N, Sumiya Y, Uchida Y and Takashima Y. Association of the mitochondrial DNA 5178 A/C polymorphism with serum lipid levels in the Japanese population, Hum. Genet. 2001; 109: 521-525 https://doi.org/10.1007/s004390100602
  16. Kurtz TW and Spence MA. Genetics of essential hypertension, Am. J. Med. 1993; 94: 77-84 https://doi.org/10.1016/0002-9343(93)90124-8
  17. Lifton RP and Jeunemaitre X. Finding genes that cause human hypertension, J. Hypertens. 1993; 11: 231-236 https://doi.org/10.1097/00004872-199303000-00002
  18. Lifton RP. Molecular genetics of human blood pressure variation, Science 1996; 272: 676-680 https://doi.org/10.1126/science.272.5262.676
  19. Longini IM Jr, Higgins MW, Hinton PC, Moll PP and Keller JB, Environmental and genetic sources of familial aggregation of blood pressure in Tecumseh, Michigan. Am. J. Epidemiol. 1984; 120: 131-144 https://doi.org/10.1093/oxfordjournals.aje.a113862
  20. Matsunaga H, Tanaka Y, Tanaka M, Gong J-S, Zhang J, Nomiyama T, Ogawa O, Ogihara T, Yamada Y, Yagi K and Kawamori R. Antiatherogenic mitochondrial genotype in patients with type 2 diabetes, Diabetes Care 2001; 24: 500-503 https://doi.org/10.2337/diacare.24.3.500
  21. Niemi A-K, Hervonen A, Hurme M, Karhunen PJ, Jylha M and Majamaa K. Mitochondrial DNA polymorphisms associated with longevity in a Finnish population, Hum. Genet. 2003; 112: 29-33 https://doi.org/10.1007/s00439-002-0843-y
  22. Orth M and Schapira AHV. Mitochondria and degenerative disorders, Am. J. Med. Genet. 2001; 106: 27-36 https://doi.org/10.1002/ajmg.1425
  23. Raha S and Robinson BH. Mitochondria, oxygen free radicals and apoptosis, Am. J. Med. Genet. 2001; 106: 62-70 https://doi.org/10.1002/ajmg.1398
  24. Shin JH, Kang, BY, Lee KH, Lee CC and Kim KT. Association between genetic variation in the human factor VII gene and essential hypertension in Korean population. Environ, Mutagens Carcinogens 2001; 21: 106-112
  25. Shoji M, Tsutaya S, Kasai T and Yasujima M. Implication of single nucleotide polymorphisms in association study: mitochondrial variations as another genetic markers for hypertension, Rinsho. Byori. 2002; 50: 497-501
  26. Soma M, Nakayama T and Katuo K. Nitric oxide synthase gene polymorphism and its influence on cardiovascular disease, Curro Opin. Nephrol. Hypertens. 1999; 8: 83-87 https://doi.org/10.1097/00041552-199901000-00013
  27. Tanaka M, Gong J-S, Zhang J, Yoneda M and Yagi K. Mitochondrial genotype associated with longevity, Lancet 1998; 351: 185-186 https://doi.org/10.1016/S0140-6736(05)78211-8
  28. Thorburn DR and Dahl H-HM. Mitochondrial disorders: genetics, counseling, prenatal diagnosis and reproductive options, Am. J. Med. Genet. 2001; 106: 102-114 https://doi.org/10.1002/ajmg.1380
  29. Ward R, Familial aggregation and genetic epidemiology of blood pressure. In: Laragh JH, Brenner BM (eds). Hypertension, Pathophysiology, Diagnosis and Management. Raven Press: New York, 1990; 81-100