Генетическая карта здоровья Пациент: 1 Полных лет: 36; Рост 158 см; Вес 47 кг; имт=18. 8; Не курит Используемые термины

Список цитируемой литературы

2. Shakoori, A.R., et al., Variations in vitamin D receptor transcription factor complexes associated with the osteocalcin gene vitamin D responsive element in osteoblasts and osteosarcoma cells. J Cell Biochem, 1994. 55(2): p. 218-29.

3. Staal, A., et al., Distinct conformations of vitamin D receptor/retinoid X receptor-alpha heterodimers are specified by dinucleotide differences in the vitamin D-responsive elements of the osteocalcin and osteopontin genes. Mol Endocrinol, 1996. 10(11): p. 1444-56.

4. Ji, G.R., et al., BsmI, TaqI, ApaI and FokI polymorphisms in the vitamin D receptor (VDR) gene and risk of fracture in Caucasians: A meta-analysis. Bone, 2010.

5. Palomba, S., et al., BsmI vitamin D receptor genotypes influence the efficacy of antiresorptive treatments in postmenopausal osteoporotic women. A 1-year multicenter, randomized and controlled trial. Osteoporos Int, 2005. 16(8): p. 943-52.

6. Yu, X.D., et al., Vitamin D receptor gene polymorphism and bone mineral density in 0-6-year-old Han children. J Bone Miner Metab, 2010.

7. Lorentzon, M., R. Lorentzon, and P. Nordstrom, Vitamin D receptor gene polymorphism is related to bone density, circulating osteocalcin, and parathyroid hormone in healthy adolescent girls. J Bone Miner Metab, 2001. 19(5): p. 302-7.

8. Perez, A., et al., Genotypes and clinical aspects associated with bone mineral density in Argentine postmenopausal women. J Bone Miner Metab, 2008. 26(4): p. 358-65.

9. Garnero, P., et al., Vitamin D receptor gene polymorphisms are associated with the risk of fractures in postmenopausal women, independently of bone mineral density. J Clin Endocrinol Metab, 2005. 90(8): p. 4829-35.

10. Suh, K.T., I.S. Eun, and J.S. Lee, Polymorphism in vitamin D receptor is associated with bone mineral density in patients with adolescent idiopathic scoliosis. Eur Spine J.

11. Bezerra, F.F., et al., Bone mass and breast milk calcium concentration are associated with vitamin D receptor gene polymorphisms in adolescent mothers. J Nutr, 2008. 138(2): p. 277-81.

12. Mory, D.B., et al., Prevalence of vitamin D receptor gene polymorphisms FokI and BsmI in Brazilian individuals with type 1 diabetes and their relation to beta-cell autoimmunity and to remaining beta-cell function. Hum Immunol, 2009. 70(6): p. 447-51.

13. de Souza, C.M., et al., Association between vitamin D receptor gene polymorphisms and susceptibility to chronic kidney disease and periodontitis. Blood Purif, 2007. 25(5-6): p. 411-9.

14. Ongphiphadhanakul, B., et al., A specific haplotype in the 3' end of estrogen-receptor alpha gene is associated with low bone mineral density in premenopausal women and increased risk of postmenopausal osteoporosis. Osteoporos Int, 2005. 16(10): p. 1233-8.

15. Riancho, J.A., et al., Common Variations In Estrogen-Related Genes Are Associated With Severe Large Joint Osteoarthritis: A Multicenter Genetic And Functional Study. Osteoarthritis Cartilage, 2010.

16. Терещенко, С.Н., et al., Полиморфизм генов ангиотензинпревращающего фермента, ангиотензина II, NO-синтетазы, эстрогеновых рецепторов и гендерные различия в их влиянии на развитие сердечно-сосудистой патологии, in Кардиология. 2009. p. 58-62.

17. Tobias, J.H., et al., Estrogen receptor alpha regulates area-adjusted bone mineral content in late pubertal girls. J Clin Endocrinol Metab, 2007. 92(2): p. 641-7.

18. Taguchi, A., et al., Association of estrogen and vitamin D receptor gene polymorphisms with tooth loss and oral bone loss in Japanese postmenopausal women. Menopause, 2003. 10(3): p. 250-7.

19. Molvarec, A., et al., Association between estrogen receptor alpha (ESR1) gene polymorphisms and severe preeclampsia. Hypertens Res, 2007. 30(3): p. 205-11.

20. Matsuoka, N., et al., Inhibitory effect of clarithromycin on costimulatory molecule expression and cytokine production by synovial fibroblast-like cells. Clin Exp Immunol, 1996. 104(3): p. 501-8.

21. Morikawa, K., et al., Modulatory effect of antibiotics on cytokine production by human monocytes in vitro. Antimicrob Agents Chemother, 1996. 40(6): p. 1366-70.

22. Yoshimura, T., et al., Effects of roxithromycin on proliferation of peripheral blood mononuclear cells and production of lipopolysaccharide-induced cytokines. Biol Pharm Bull, 1995. 18(6): p. 876-81.

23. Nikolopoulos, G.K., et al., Cytokine gene polymorphisms in periodontal disease: a meta-analysis of 53 studies including 4178 cases and 4590 controls. J Clin Periodontol, 2008.

24. Mattuzzi, S., et al., Association of polymorphisms in the IL1B and IL2 genes with susceptibility and severity of systemic sclerosis. J Rheumatol, 2007. 34(5): p. 997-1004.

25. Trevilatto, P.C., et al., Association of IL1 gene polymorphisms with chronic periodontitis in Brazilians. Arch Oral Biol, 2010.

26. Barrett, J.C., et al., Haploview: analysis and visualization of LD and haplotype maps. Bioinformatics, 2005. 21(2): p. 263-5.

27. Walker, W.G., et al., Relation between blood pressure and renin, renin substrate, angiotensin II, aldosterone and urinary sodium and potassium in 574 ambulatory subjects. Hypertension, 1979. 1(3): p. 287-91.

28. Sethi, A.A., et al., Angiotensinogen single nucleotide polymorphisms, elevated blood pressure, and risk of cardiovascular disease. Hypertension, 2003. 41(6): p. 1202-11.

29. Winkelmann, B.R., et al., Angiotensinogen M235T polymorphism is associated with plasma angiotensinogen and cardiovascular disease. Am Heart J, 1999. 137(4 Pt 1): p. 698-705.

30. Sethi, A.A., et al., Angiotensinogen polymorphisms and elevated blood pressure in the general population: the Copenhagen City Heart Study. Hypertension, 2001. 37(3): p. 875-81.

31. Sethi, A.A., et al., Angiotensinogen mutations and risk for ischemic heart disease, myocardial infarction, and ischemic cerebrovascular disease. Six case-control studies from the Copenhagen City Heart Study. Ann Intern Med, 2001. 134(10): p. 941-54.

32. Pilbrow, A.P., et al., Angiotensinogen M235T and T174M gene polymorphisms in combination doubles the risk of mortality in heart failure. Hypertension, 2007. 49(2): p. 322-7.

33. Zafarmand, M.H., et al., The M235T variant of the angiotensinogen gene is related to development of self-reported hypertension during pregnancy: the Prospect-EPIC cohort study. Hypertens Res, 2008. 31(7): p. 1299-305.

34. Medica, I., A. Kastrin, and B. Peterlin, Genetic polymorphisms in vasoactive genes and preeclampsia: a meta-analysis. Eur J Obstet Gynecol Reprod Biol, 2007. 131(2): p. 115-26.

35. Kamitani, A., et al., Enhanced predictability of myocardial infarction in Japanese by combined genotype analysis. Hypertension, 1995. 25(5): p. 950-3.

36. Vasku, A., et al., Angiotensin I-converting enzyme and angiotensinogen gene interaction and prediction of essential hypertension. Kidney Int, 1998. 53(6): p. 1479-82.

37. Poch, E., et al., Molecular basis of salt sensitivity in human hypertension. Evaluation of renin-angiotensin-aldosterone system gene polymorphisms. Hypertension, 2001. 38(5): p. 1204-9.

38. Unger, T., The angiotensin type 2 receptor: variations on an enigmatic theme. J Hypertens, 1999. 17(12 Pt 2): p. 1775-86.

39. Martin, M.M., et al., The human angiotensin II type 1 receptor +1166 A/C polymorphism attenuates microrna-155 binding. J Biol Chem, 2007. 282(33): p. 24262-9.

40. Abdi, R., et al., Angiotensin gene polymorphism as a determinant of posttransplantation renal dysfunction and hypertension. Transplantation, 2001. 72(4): p. 726-9.

41. Bonnardeaux, A., et al., Angiotensin II type 1 receptor gene polymorphisms in human essential hypertension. Hypertension, 1994. 24(1): p. 63-9.

42. Wang, W.Y., R.Y. Zee, and B.J. Morris, Association of angiotensin II type 1 receptor gene polymorphism with essential hypertension. Clin Genet, 1997. 51(1): p. 31-4.

43. Hu, Y., Y. Bi, and G. Guan, [The association between A1166-->C of angiotensin II type 1 receptor gene and pregnancy induced hypertension]. Zhonghua Fu Chan Ke Za Zhi, 2000. 35(3): p. 136-8.

44. Osterop, A.P., et al., AT1 receptor A/C1166 polymorphism contributes to cardiac hypertrophy in subjects with hypertrophic cardiomyopathy. Hypertension, 1998. 32(5): p. 825-30.

45. Amant, C., et al., The angiotensin II type 1 receptor gene polymorphism is associated with coronary artery vasoconstriction. J Am Coll Cardiol, 1997. 29(3): p. 486-90.

46. Henrion, D., et al., Angiotensin II type 1 receptor gene polymorphism is associated with an increased vascular reactivity in the human mammary artery in vitro. J Vasc Res, 1998. 35(5): p. 356-62.

47. Kiliszek, M., et al., A1166C polymorphism of the angiotensin AT1 receptor (AT1R) gene alters endothelial response to statin treatment. Clin Chem Lab Med, 2007. 45(7): p. 839-42.

48. Saab, Y.B., et al., Renin-angiotensin-system gene polymorphisms and depression. Prog Neuropsychopharmacol Biol Psychiatry, 2007. 31(5): p. 1113-8.

49. Kuznetsova, T., et al., Left ventricular mass in relation to genetic variation in angiotensin II receptors, renin system genes, and sodium excretion. Circulation, 2004. 110(17): p. 2644-50.

50. Weber, K.T. and C.G. Brilla, Pathological hypertrophy and cardiac interstitium. Fibrosis and renin-angiotensin-aldosterone system. Circulation, 1991. 83(6): p. 1849-65.

51. Paillard, F., et al., Genotype-phenotype relationships for the renin-angiotensin-aldosterone system in a normal population. Hypertension, 1999. 34(3): p. 423-9.

52. Freitas, S.R., et al., Analysis of renin-angiotensin-aldosterone system gene polymorphisms in resistant hypertension. Braz J Med Biol Res, 2007. 40(3): p. 309-16.

53. Casiglia, E., et al., C-344T polymorphism of the aldosterone synthase gene and blood pressure in the elderly: a population-based study. J Hypertens, 2005. 23(11): p. 1991-6.

54. Franco, E., et al., Renin-angiotensin-aldosterone system polymorphisms: a role or a hole in occurrence and long-term prognosis of acute myocardial infarction at young age. BMC Med Genet, 2007. 8: p. 27.

55. Yajnik, C.S., et al., Oral vitamin B12 supplementation reduces plasma total homocysteine concentration in women in India. Asia Pac J Clin Nutr, 2007. 16(1): p. 103-9.

56. van der Put, N.M., et al., Mutated methylenetetrahydrofolate reductase as a risk factor for spina bifida. Lancet, 1995. 346(8982): p. 1070-1.

57. James, S.J., et al., Abnormal folate metabolism and mutation in the methylenetetrahydrofolate reductase gene may be maternal risk factors for Down syndrome. Am J Clin Nutr, 1999. 70(4): p. 495-501.

58. Mills, J.L., et al., Methylenetetrahydrofolate reductase thermolabile variant and oral clefts. Am J Med Genet, 1999. 86(1): p. 71-4.

59. Skibola, C.F., et al., Polymorphisms in the methylenetetrahydrofolate reductase gene are associated with susceptibility to acute leukemia in adults. Proc Natl Acad Sci U S A, 1999. 96(22): p. 12810-5.

60. Lucock, M., Is folic acid the ultimate functional food component for disease prevention? BMJ, 2004. 328(7433): p. 211-4.

61. Penney, D.S. and K.G. Miller, Nutritional counseling for vegetarians during pregnancy and lactation. J Midwifery Womens Health, 2008. 53(1): p. 37-44.

62. Catania, J. and D.S. Fairweather, DNA methylation and cellular ageing. Mutat Res, 1991. 256(2-6): p. 283-93.

63. Vanyushin, B.F., et al., The 5-methylcytosine in DNA of rats. Tissue and age specificity and the changes induced by hydrocortisone and other agents. Gerontologia, 1973. 19(3): p. 138-52.

64. Costello, J.F. and C. Plass, Methylation matters. J Med Genet, 2001. 38(5): p. 285-303.

65. Silaste, M.L., et al., Polymorphisms of key enzymes in homocysteine metabolism affect diet responsiveness of plasma homocysteine in healthy women. J Nutr, 2001. 131(10): p. 2643-7.

66. Gonzalez-Porras, J.R., et al., Hyperhomocysteinemia is a risk factor of recurrent coronary event in young patients irrespective to the MTHFR C677T polymorphism. Thrombosis research, 2007. 119(6): p. 691-8.

67. Goodman, C.S., et al., Which thrombophilic gene mutations are risk factors for recurrent pregnancy loss? Am J Reprod Immunol, 2006. 56(4): p. 230-6.

68. Yenicesu, G.I., et al., A prospective case-control study analyzes 12 thrombophilic gene mutations in Turkish couples with recurrent pregnancy loss. Am J Reprod Immunol, 2009. 63(2): p. 126-36.

69. Matok, I., et al., Exposure To Folic Acid Antagonists During The First Trimester of Pregnancy and the Risk of Major Malformations. British Journal of Clinical Pharmacology, 2009. 68(6): p. 956-62.

70. Boccia, S., et al., Meta-analyses of the methylenetetrahydrofolate reductase C677T and A1298C polymorphisms and risk of head and neck and lung cancer. Cancer Lett, 2008.

71. Stidley, C.A., et al., Multivitamins, folate, and green vegetables protect against gene promoter methylation in the aerodigestive tract of smokers. Cancer Res, 2010. 70(2): p. 568-74.

72. Beetstra, S., et al., Methionine-dependence phenotype in the de novo pathway in BRCA1 and BRCA2 mutation carriers with and without breast cancer. Cancer Epidemiol Biomarkers Prev, 2008. 17(10): p. 2565-71.

73. Boccia, S., et al., Meta- and pooled analyses of the methylenetetrahydrofolate reductase C677T and A1298C polymorphisms and gastric cancer risk: a huge-GSEC review. Am J Epidemiol, 2008. 167(5): p. 505-16.

74. Cushman, M., The role of imflammation in Cardiovascular disease and effect of hormon replasment, in Материалы V международного симпозиума по проблемам здоровья женщин и менопаузе. 2004: Италия.

75. Макацария, А.Д., В.О. Бицадзе, and С.В. Акиньшина, Профилактика и лечение тромбоэмболических осложнений в акушерстве, in Тромбозы и тромбоэмболии в акушерско-гинекологической клинике. 2007, Медицинское информационное агенство: М. p. 1064.

76. Deloughery, T.G., et al., Common mutation in methylenetetrahydrofolate reductase. Correlation with homocysteine metabolism and late-onset vascular disease. Circulation, 1996. 94(12): p. 3074-8.

77. Malinow, M.R., et al., The effects of folic acid supplementation on plasma total homocysteine are modulated by multivitamin use and methylenetetrahydrofolate reductase genotypes. Arterioscler Thromb Vasc Biol, 1997. 17(6): p. 1157-62.

78. Laraqui, A., et al., Influence of methionine synthase (A2756G) and methionine synthase reductase (A66G) polymorphisms on plasma homocysteine levels and relation to risk of coronary artery disease. Acta Cardiol, 2006. 61(1): p. 51-61.

79. Furness, D.L., et al., One-carbon metabolism enzyme polymorphisms and uteroplacental insufficiency. Am J Obstet Gynecol, 2008. 199(3): p. 276 e1-8.

80. Barbosa, P.R., et al., Association between decreased vitamin levels and MTHFR, MTR and MTRR gene polymorphisms as determinants for elevated total homocysteine concentrations in pregnant women. Eur J Clin Nutr, 2008. 62(8): p. 1010-21.

81. Wilson, A., et al., A common variant in methionine synthase reductase combined with low cobalamin (vitamin B12) increases risk for spina bifida. Mol Genet Metab, 1999. 67(4): p. 317-23.

82. Zhu, H., et al., Homocysteine remethylation enzyme polymorphisms and increased risks for neural tube defects. Mol Genet Metab, 2003. 78(3): p. 216-21.

83. Varga, E.A., B.A. Kerlin, and M.W. Wurster, Social and ethical controversies in thrombophilia testing and update on genetic risk factors for venous thromboembolism. Semin Thromb Hemost, 2008. 34(6): p. 549-61.

84. Haverkate, F. and M. Samama, Familial dysfibrinogenemia and thrombophilia. Report on a study of the SSC Subcommittee on Fibrinogen. Thromb Haemost, 1995. 73(1): p. 151-61.

85. van 't Hooft, F.M., et al., Two common, functional polymorphisms in the promoter region of the beta-fibrinogen gene contribute to regulation of plasma fibrinogen concentration. Arterioscler Thromb Vasc Biol, 1999. 19(12): p. 3063-70.

86. Humphries, S.E., J.A. Henry, and H.E. Montgomery, Gene-environment interaction in the determination of levels of haemostatic variables involved in thrombosis and fibrinolysis. Blood Coagul Fibrinolysis, 1999. 10 Suppl 1: p. S17-21.

87. Bots, M.L., et al., Level of fibrinogen and risk of fatal and non-fatal stroke. EUROSTROKE: a collaborative study among research centres in Europe. J Epidemiol Community Health, 2002. 56 Suppl 1: p. i14-8.

88. Sampaio, M.F., et al., AMI is associated with polymorphisms in the NOS3 and FGB but not in PAI-1 genes in young adults. Clin Chim Acta, 2007. 377(1-2): p. 154-62.

89. Martiskainen, M., et al., Fibrinogen gene promoter -455 A allele as a risk factor for lacunar stroke. Stroke, 2003. 34(4): p. 886-91.

90. Martinelli, N., et al., Combined effect of hemostatic gene polymorphisms and the risk of myocardial infarction in patients with advanced coronary atherosclerosis. PLoS ONE, 2008. 3(2): p. e1523.

91. Scarabin, P.Y., et al., Genetic variation at the beta-fibrinogen locus in relation to plasma fibrinogen concentrations and risk of myocardial infarction. The ECTIM Study. Arterioscler Thromb, 1993. 13(6): p. 886-91.

92. Panahloo, A., et al., Determinants of plasminogen activator inhibitor 1 activity in treated NIDDM and its relation to a polymorphism in the plasminogen activator inhibitor 1 gene. Diabetes, 1995.