Atherosclerosis
Volume 199, Issue 2 , Pages 354-361 , August 2008

A commonly occurring polymorphism upstream of the estrogen receptor alpha alters transcription and is associated with increased HDL

  • Gemma A. Figtree

      Affiliations

    • Department of Cardiovascular Medicine, Wellcome Trust Centre for Human Genetics, University of Oxford, UK
    • Kolling Institute of Medical Research, University of Sydney, Australia
    • Corresponding Author InformationCorresponding author at: Department of Cardiology, Royal North Shore Hospital, University of Sydney, St Leonards, NSW 2065, Australia. Tel.: +61 2 9926 7111; fax: +61 2 9906 1355.
  • ,
  • Stuart M. Grieve

      Affiliations

    • Kolling Institute of Medical Research, University of Sydney, Australia
  • ,
  • Bridget Speller

      Affiliations

    • Kolling Institute of Medical Research, University of Sydney, Australia
  • ,
  • Mary-Jane Geiger

      Affiliations

    • Lilly Research Laboratories, Eli Lilly and Company, Indianapolis, IN 46285, United States
  • ,
  • Bruce G. Robinson

      Affiliations

    • Kolling Institute of Medical Research, University of Sydney, Australia
  • ,
  • Keith M. Channon

      Affiliations

    • Kolling Institute of Medical Research, University of Sydney, Australia
  • ,
  • Jiannis Ragoussis

      Affiliations

    • Department of Cardiovascular Medicine, Wellcome Trust Centre for Human Genetics, University of Oxford, UK
  • ,
  • Peter Collins

      Affiliations

    • Cardiac Medicine, National Heart and Lung Institute, Imperial College, London, UK
  • ,
  • Hugh Watkins

      Affiliations

    • Department of Cardiovascular Medicine, Wellcome Trust Centre for Human Genetics, University of Oxford, UK

Received 1 December 2007 ,Revised 2 February 2008 ,Accepted 3 February 2008.

References 

  1. Watts GF, Mandalia S, Brunt JN, Slavin BM, Coltart DJ, Lewis B. Independent associations between plasma lipoprotein subfraction levels and the course of coronary artery disease in the St. Thomas’ Atherosclerosis Regression Study (STARS). Metabolism. 1993;42:1461–1467
  2. Syvanne M, Nieminen MS, Frick M, et al. Associations between lipoproteins and the progression of coronary and vein-graft atherosclerosis in a controlled trial with gemfibrozil in men with low baseline levels of HDL cholesterol. Circulation. 1998;98:1993–1999
  3. Gordon DJ, Probstfield JL, Garrison RJ, et al. High-density lipoprotein cholesterol and cardiovascular disease: four prospective American studies. Circulation. 1989;79:8–15
  4. Bush TL, Barrett-Connor E, Cowan LD, et al. Cardiovascular mortality and noncontraceptive use of estrogen in women: results from the Lipid Research Clinics Program Follow-up Study. Circulation. 1987;75:1102–1109
  5. Knopp RH, Zhu X, Bonet B. Effects of estrogens on lipoprotein metabolism and cardiovascular disease in women. Atherosclerosis. 1994;110(Suppl. 91):
  6. Li Z, McNamara JR, Fruchart JC, et al. Effects of gender and menopausal status on plasma lipoprotein subspecies and particle sizes. J Lipid Res. 1996;37:1886–1896
  7. Lamon-Fava S, Ordovas JM, Schaefer EJ. Estrogen increases apolipoprotein (apo) A-I secretion in hep G2 cells by modulating transcription of the apo A-I gene promoter. Arterioscler Thromb Vasc Biol. 1999;19:2960–2965
  8. Hodgin JB, Krege JH, Reddick RL, Korach KS, Smithies O, Maeda N. Estrogen receptor alpha is a major mediator of 17beta-estradiol's atheroprotective effects on lesion size in Apoe−/− mice. J Clin Invest. 2001;107:333–340
  9. Mahaney MC, Blangero J, Rainwater DL, et al. A major locus influencing plasma high-density lipoprotein cholesterol levels in the San Antonio Family Heart Study. Segregation and linkage analyses. Arterioscler Thromb Vasc Biol. 1995;15:1730–1739
  10. Peacock JM, Arnett DK, Atwood LD, et al. Genome scan for quantitative trait loci linked to high-density lipoprotein cholesterol: The NHLBI Family Heart Study. Arterioscler Thromb Vasc Biol. 2001;21:1823–1828
  11. Yang Q, Lai CQ, Parnell L, et al. Genome-wide linkage analyses and candidate gene fine mapping for HDL3 cholesterol: the Framingham Study. J Lipid Res. 2005;46:1416–1425
  12. Matsubara Y, Murata M, Kawano K, et al. Genotype distribution of estrogen receptor polymorphisms in men and postmenopausal women from healthy and coronary populations and its relation to serum lipid levels. Arterioscler Thromb Vasc Biol. 1997;17:3006–3012
  13. Kikuchi T, Hashimoto N, Kawasaki T, Uchiyama M. Association of serum low-density lipoprotein metabolism with oestrogen receptor gene polymorphisms in healthy children. Acta Paediatr. 2000;89:42–45
  14. Sowers MR, Symons JP, Jannausch ML, Chu J, Kardia SR. Sex steroid hormone polymorphisms, high-density lipoprotein cholesterol, and apolipoprotein A-1 from the Study of Women's Health Across the Nation (SWAN). Am J Med. 2006;119:S61–S68
  15. Herrington DM, Howard TD, Hawkins GA, et al. Estrogen-receptor polymorphisms and effects of estrogen replacement on high-density lipoprotein cholesterol in women with coronary disease. N Engl J Med. 2002;346:967–974
  16. Schubert EL, Lee MK, Newman B, King MC. Single nucleotide polymorphisms (SNPs) in the estrogen receptor gene and breast cancer susceptibility. J Steroid Biochem Mol Biol. 1999;71:21–27
  17. Penolazzi L, Lambertini E, Aguiari G, del Senno L, Piva R. Cis element ‘decoy’ against the upstream promoter of the human estrogen receptor gene. Biochim Biophys Acta. 2000;1492:560–567
  18. Underhill PA, Jin L, Zemans R, Oefner PJ, Cavalli-Sforza LL. A pre-Columbian Y chromosome-specific transition and its implications for human evolutionary history. Proc Natl Acad Sci USA. 1996;93:196–200
  19. Risch N, Merikangas K. The future of genetic studies of complex human diseases. Science. 1996;273:1516–1517
  20. Boffa MB, Hamill JD, Maret D, et al. Acute phase mediators modulate thrombin-activable fibrinolysis inhibitor (TAFI) gene expression in HepG2 Cells. J Biol Chem. 2003;278:9250–9257
  21. Barrett-Connor E, Mosca L, Collins P, et al. The Raloxifene use for the heart trial I. Effects of Raloxifene on cardiovascular events and breast cancer in postmenopausal women. N Engl J Med. 2006;355:125–137
  22. Lancaster A, Nelson MP, Single RM, Meyer D, Thomson G. PyPop: a software framework for population genomics: analyzing large-scale multi-locus genotype data. Pacific Symp Biocomput. 2003;514–525
  23. Wingender E, Chen X, Fricke E, et al. The TRANSFAC system on gene expression regulation. Nucleic Acids Res. 2001;29:281–283
  24. Saponaro S, Guarnieri V, Pescarmona GP, Silvagno F. Long-term exposure to dehydroepiandrosterone affects the transcriptional activity of the glucocorticoid receptor. J Steroid Biochem Mol Biol. 2007;103:129–136
  25. Mosca L, Barrett-Connor E, Wenger NK, et al. Design and methods of the Raloxifene Use for The Heart (RUTH) Study. Am J Cardiol. 2001;88:392–395
  26. Herrington DM, Howard TD, Brosnihan KB, et al. Common estrogen receptor polymorphism augments effects of hormone replacement therapy on E-selectin but not C-reactive protein. Circulation. 2002;105:1879–1882
  27. Stavreus-Evers A, Parini P, Freyschuss B, et al. Estrogenic influence on the regulation of hepatic estrogen receptor-alpha and serum level of angiotensinogen in female rats. J Steroid Biochem Mol Biol. 2001;78:83–88
  28. Freyschuss B, Sahlin L, Masironi B, Eriksson H. The hormonal regulation of the oestrogen receptor in rat liver: an interplay involving growth hormone, thyroid hormones and glucocorticoids. J Endocrinol. 1994;142:285–298
  29. Schuit SCE, Oei H-HS, Witteman JCM, et al. Estrogen receptor {alpha} gene polymorphisms and risk of myocardial infarction. JAMA. 2004;291:2969–2977
  30. Shearman AM, Cooper JA, Kotwinski PJ, et al. Estrogen receptor {alpha} gene variation is associated with risk of myocardial infarction in more than seven thousand men from five cohorts. Circ Res. 2006;98:590–592

PII: S0021-9150(08)00071-3

doi: 10.1016/j.atherosclerosis.2008.02.012

Atherosclerosis
Volume 199, Issue 2 , Pages 354-361 , August 2008