Polycystic ovary syndrome and the single nucleotide polymorphisms of methylenetetrahydrofolate reductase: A pilot observational study

Human Fertility

Volumn 10, Issue 1, 2007, Pages 33-41

  Palep Singh, M ^a   Picton, H M ^b   Yates, Z R ^b   Barth, J ^c   Balen, A H ^a  

^a LEEDS TEACHING HOSPITALS NHS TRUST   (United Kingdom)

^b UNIVERSITY OF LEEDS   (United Kingdom)

^c LEEDS GENERAL INFIRMARY   (United Kingdom)

Author keywords

Coronary artery disease (CAD); Dyslipidaemia; Homocysteine (Hcy); Methylenetetrahydrofolate reductase (MTHFR); Polycystic ovary syndrome (PCOS)

Indexed keywords

5,10 METHYLENETETRAHYDROFOLATE REDUCTASE (FADH2); ALANINE; ANDROGEN; CYANOCOBALAMIN; FOLIC ACID; FOLLITROPIN; GLUTAMIC ACID; HIGH DENSITY LIPOPROTEIN CHOLESTEROL; HOMOCYSTEINE; INSULIN; LUTEINIZING HORMONE; TESTOSTERONE; TRIACYLGLYCEROL; VALINE;

AMINO ACID METABOLISM; AMINO ACID SUBSTITUTION; ANTHROPOMETRY; ARTICLE; ASIAN; ATHEROGENESIS; ATHEROSCLEROSIS; CAUCASIAN; CONCENTRATION (PARAMETERS); CONTROLLED STUDY; CORONARY ARTERY DISEASE; DIABETES MELLITUS; DYSLIPIDEMIA; ETHNIC DIFFERENCE; FEMALE; FOLATE METABOLISM; FOLIC ACID BLOOD LEVEL; GENE FREQUENCY; GENOTYPE; HOMOZYGOSITY; HUMAN; HYPERANDROGENISM; HYPERHOMOCYSTEINEMIA; INSULIN RESISTANCE; LABORATORY TEST; MAJOR CLINICAL STUDY; MORTALITY; NUTRITIONAL DEFICIENCY; OBSERVATIONAL STUDY; OVARY POLYCYSTIC DISEASE; PILOT STUDY; POLYMERASE CHAIN REACTION; PREVALENCE; SINGLE NUCLEOTIDE POLYMORPHISM; SOUTH ASIA;

ADULT; ANTHROPOMETRY; ASIA, SOUTHEASTERN; ASIAN CONTINENTAL ANCESTRY GROUP; EUROPEAN CONTINENTAL ANCESTRY GROUP; FEMALE; GENE FREQUENCY; GENOTYPE; HOMOCYSTEINE; HUMANS; INSULIN RESISTANCE; METHYLENETETRAHYDROFOLATE REDUCTASE (NADPH2); PILOT PROJECTS; POLYCYSTIC OVARY SYNDROME; POLYMORPHISM, SINGLE NUCLEOTIDE; VITAMIN B COMPLEX;

EID: 33947518152     PISSN: 14647273     EISSN: 17428149     Source Type: Journal    
DOI: 10.1080/14647270600950157     Document Type: Article

References (51)

1. Abu-Amero, K. K., Wyngaard, M. T. and Dzmiri, N. (2003) Prevalence and role of methylenetetrahydrofolate reductase 677 C → T and 1298 A → polymorphisms in coronary artery disease in Arabs. Archives of Pathology & Laboratory Medicine, 127, pp. 1349-1352.
2. Anand, S. S., Yusuf, S., Vuksan, V., Devanesen, S., Teo, K. K. and Montague, P. A. (2000) Differences in risk factors, atherosclerosis and cardiovascular disease between ethnic groups in Canada: The study of health assessment and risk in ethnic groups (SHARE). Lancet, 356, pp. 279-284.
3. Andreassi, M. G., Botto, N., Cocci, F., Battaglia, D., Antonioli, E. and Masetti, S. (2002) Methylenetetrahydrofolate reductase C 677 T polymorphisms, homocysteine, vitamin B12 and DNA damage in coronary artery disease. Human Genetics, 112, pp. 171-177.
4. Balarajan, R. (1996) Ethnicity and variations in mortality for CHD. Health Trends, 28, pp. 45-51.
5. Balen, A. H., Conway, G. S., Kaltsas, G., Techatrasak, K., Manning, P. J., West, C. and Jacobs, H. S. (1995) Polycystic ovary syndrome: The spectrum of the disorder in 1741 patients. Human Reproduction, 10, pp. 2107-2111.
6. Balen, A. H., Laven, J. S. E., Tan, S. L. and Dewailly, D. (2003) Ultrasound assessment of the polycystic ovary: International consensus definitions. Human Reproduction Update, 9, pp. 505-514.
7. Beauchamp, M.-C. and Renier, G. (2002) Homocysteine induces protein kinase C activation and stimulates c-Fos and lipoprotein lipase expression in the macrophages. Diabetes, 51, pp. 1180-1187.
8. Bellamy, M. F., McDowell, I. F., Ramsey, M. W., Brownlee, M., Bones, C., Newcombe, R. G. and Lewis, M. J. (1998) Hyperhomocysteinemia after an oral Methionine load acutely impairs endothelial function in healthy adults. Circulation, 98, pp. 1848-1852.
9. Botto, N., Andreassi, M. G., Manfredi, S., Masetti, S., Cocci, F. and Colombo, M. G. (2003) Genetic polymorphisms in folate and homocysteine metabolism risk factors for DNA damage. European Journal of Human Genetics, 11, pp. 671-678.
10. Chambers, J. C., Obeid, O. A., Refsum, H., Ueland, P., Hackett, D. and Hooper, J. (2000) Plasma homocysteine concentrations and risk of coronary heart disease in the UK Indian Asians and European men. Lancet, 355, pp. 523-527.
11. Cortese, C. and Motti, C. (2001) MTHFR reductase gene polymorphisms, homocysteine and cardiovascular disease. Public Health Nutrition, 4:2, pp. 493-497.
12. Dawson, D. W. and Waters, H. M. (1994) Malnutrition: Folate and cobalamine deficiency. British Journal of Biomedical Science, 51, pp. 221-227.
13. De Marco, P., Calevo, M. G., Moroni, A., Arata, L., Merello, E. and Finnell, R. H. (2002) Study of MTHFR and MS polymorphisms as risk factors for NTD in the Italian population. Journal of Human Genetics, 47, pp. 319-324.
14. Donnelly, J. G. (2000) The A1298C (A → C) mutation of methylene tetrahydrofolate reductase should be designated to the 1289 position of the gene (letter to editor). American Journal of Human Genetics, 66, pp. 744-745.
15. Esfahani, S. T., Cogger, E. A. and Caudill, M. A. (2003) Heterogeneity in the prevalence of Methylenetetrahydrofolate reductase gene polymorphism in women of different ethnic groups. Journal of the American Dietetic Association, 103, pp. 200-207.
16. Fauser, B. (2003) Rotterdam ESHRE/ASRM - sponsored PCOS consensus workshop group. Revised 2003 consensus on diagnostic criteria and long term health risks related to polycystic ovary syndrome (PCOS). Human Reproduction, 19, pp. 41-47.
17. Friso, S., Girelli, D., Trabetti, E., Stranieri, C., Olivieri, O. and Tinazzi, E. (2002) A1298C methylene tetrahydrofolate reductase mutation and coronary artery disease: Relationships with C677T polymorphism and homocysteine/folate metabolism. Clinical and Experimental Medicine, 2, pp. 7-12.
18. Frosst, P., Blom, H. J., Milos, R., Goyette, P., Sheppard, C. A. and Matthews, R. G. (1995) A candidate genetic risk factor for vascular disease: A common mutation in methylenetetrahydrofolate reductase. Nature Genetics, 10, pp. 111-113.
19. Goyette, P., Frosst, P., Rosenblatt, D. S. and Rozen, R. (1995) Seven novel mutations in the methylenetetrahydrofolate reductase gene and genotype/phenotype correlations in severe methylenetetrahydrofolate reductase deficiency. American Journal of Human Genetics, 56, pp. 1052-1059.
20. Hankey, G. J. and Eikelboom, J. W. (1999) Homocysteine and vascular disease. Lancet, 354, pp. 407-413.
21. Herrmann, W. (2001) The importance of hyperhomocysteinemia as a risk factor for diseases: An overview. Clinical Chemistry and Laboratory Medicine, 39, pp. 666-674.
22. Kaye, J. M., Stanton, K. G., McCann, V. J., Vasikaran, S. D., Burke, V., Taylor, R. R. and van Bockxmeer, F. M. (2002) Homocysteine, folate, MTHFR genotype and vascular morbidity in diabetic subjects. Clinical Science, (London), 102, pp. 631-637.
23. Kolling, K., Ndrepepa, G., Koch, W., Braun, S., Mehili, J., Schomig, A. and Kastrati, A. (2004) Methylenetetrahydrofolate reductase gene C677T and A1298C polymorphisms, plasma homocysteine, folate and vitamin B12 levels and the extent of coronary artery disease. American Journal of Cardiology, 93, pp. 1201-1206.
24. Loverro, G., Lorusso, F., Mei, L., Depalo, R., Cormio, G. and Selvaggi, L. (2002) The plasma homocysteine levels are increased in polycystic ovary syndrome. Gynaecologic Investigation, 53, pp. 157-162.
25. Matthews, J. H. and Wood, J. K. (1984) Megaloblastic anemia in vegetarian Asians. Clinical and Laboratory Haematology, 6, pp. 1-7.
26. McKeigue, P. M., Ferrie, J. E., Pierpoint, T. and Marmot, M. G. (1993) Association of early onset coronary heart disease in South Asian men with glucose intolerance and hyperinsulinemia. Circulation, 87, pp. 152-161.
27. Meisel, C., Cascorbi, I., Gerloff, T., Stangl, V., Laule, M. and Muller, J. M. (2001) Identification of six methylenetetrahydrofolate reductase genotypes resulting from common polymorphisms: Impact on plasma homocysteine levels and development of coronary artery disease. Atherosclerosis, 154, pp. 651-658.
28. Michelmore, K. F., Balen, A. H., Dunger, D. B. and Vessey, M. P. (1999) Polycystic ovaries and associated clinical and biochemical features in young women. Clinical Endocrinology, 51, pp. 779-786.
29. Moriyama, Y., Okamura, T., Kajinami, K., Iso, H., Inazu, A. and Kawashiri, M. (2002) Effects of serum B vitamins on elevated plasma homocysteine levels associated with the mutation of methylenetetrahydrofolate reductase gene in Japanese. Atherosclerosis, 164, pp. 321-328.
30. Mukherjee, M., Joshi, S., Bagadi, S., Dalvi, M., Rao, A. and Shetty, K. R. (2002) A low prevalence of the C677T mutation in the methylenetetrahydrofolate reductase gene in Asian Indians. Clinical Genetics, 61, pp. 155-159.
31. Nakai, K., Itoh, C., Nakai, K., Habano, W. and Gurwitz, D. (2001) Correlation between C677T MTHFR gene polymorphism, plasma homocysteine levels, and incidence of CAD. American Journal of Cardiovascular Drugs, 1, pp. 353-361.
32. Nygard, O., Vollset, S. E., Refsum, H., Stensvold, I., Tverdal, A. and Nordrehaug, J. E. (1995) Total plasma homocysteine and cardiovascular risk profile. The Hordaland homocysteine study. Journal of the American Medical Association, 274, pp. 1526-1533.
33. Polson, D. W., Adams, J., Wadsworth, J. and Franks, S. (1988) Polycystic ovaries - a common finding in normal women. Lancet, 1, pp. 870-872.
34. Rodin, D. A., Bano, G., Bland, J. M., Taylor, K. and Nussey, S. S. (1998) Polycystic ovaries and associated metabolic abnormalities in Indian subcontinent Asian women. Clinical Endocrinology, 49, pp. 91-99.
35. Rothenbacher, D., Fischer, H. G., Hoffmeister, A., Hoffmann, M. M., Marz, W. and Bode, G. (2002) Homocysteine and methylene tetrahydrofolate reductase genotype: Association with risk of coronary heart disease and relation to inflammatory, hemostatic and lipid parameters. Atherosclerosis, 162, pp. 193-200.
36. Samad, F., Pandey, M. and Loskutoft, D. J. (1998) Tissue factor gene expression in the adipose tissue of obese mice. Proceedings of the National Academy of Sciences USA, 95, pp. 7591-7596.
37. Schachter, M., Raziel, A., Friedler, S., Strassburger, D., Bern, O. and Ron-El, R. (2003) Insulin resistance in patients with polycystic ovary syndrome is associated with elevated plasma homocysteine. Human Reproduction, 18, pp. 721-727.
38. Schneider, J. A., Rees, D. C., Liu, Y. T. and Clegg, J. B. (1998) Worldwide distribution of a common methylenetetrahydrofolate reductase mutation. American Journal of Human Genetics, 62, pp. 1258-1260.
39. Solomon, C. G. (1999) The epidemiology of polycystic ovary syndrome - prevalence and associated disease risks. Endocrinology & Metabolism Clinics of North America, 28, pp. 247-263.
40. Stevenson, R. E., Schwartz, C. E., Du, Y.-Z. and Adams Jr., M. J. (1997) Differences in methylenetetrahydrofolate reductase genotype frequencies between whites and blacks. American Journal of Human Genetics, 60, pp. 229-230.
41. Szczeklik, A., Sanak, M., Jankowski, M., Dropinski, J., Czachor, R. and Musial, J. (2001) Mutation A1298C of the methylenetetrahydrofolate reductase: Risk for early coronary artery disease is not associated with hyperhomocysteinemia. American Journal of Medical Genetics, 101, pp. 36-39.
42. Talbott, E., Guzick, D., Clerici, A., Berga, S., Detre, K., Weimer, K. and Kuller, L. (1995) Coronary heart disease risk factors in women with polycystic ovary syndrome. Arteriosclerosis, Thrombosis, and Vascular Biology, 15, pp. 821-826.
43. Tanis, B. C., Blom, H. J., Bloemenkamp, D. G., van-den-Bosch, M. A. A. J., Algra, A., van-der-Graaf, Y. and Rosendaal, F. R. (2004) Folate, homocysteine levels, methylenetetrahydrofolate reductase (MTHFR) 677C → T variant, and the risk of myocardial infarction in young women: effect of female hormones on homocysteine levels. Journal of Thrombosis and Haemostasis, 2, pp. 35-41.
44. Thompson, E. A. and Neel, J. V. (1997) Allelic disequilibrium and allele frequency distribution as a function of social and demographic history. American Journal of Human Genetics, 60, pp. 197-204.
45. van der Put, N. M., Gabreels, F., Stevens, E. M., Smeitink, J. A., Trijbels, F. J. and Eskes, T. K. (1998) A second common mutation in the methylenetetrahydrofolate reductase gene: An additional risk factor for neural-tube defects?. American Journal of Human Genetics, 62, pp. 1044-1051.
46. Visser, M., Bouter, L. M., McQuillan, G. M., Wener, M. H. and Harris, T. B. (1999) Elevated C - reactive protein levels in overweight and obese adults. Journal of the American Medical Association, 282, pp. 2131-2135.
47. Wijeyaratne, C. N., Balen, A. H., Barth, J. H. and Belchetz, P. E. (2002) Clinical manifestations and insulin resistance (IR) in polycystic ovary syndrome (PCOS) among South Asians and Caucasians: Is there a difference?. Clinical Endocrinology, 57, pp. 343-350.
48. Wild, R., Painter, P., Coulson, P., Carruth, K. B. and Ranney, G. B. (1985) Lipoprotein lipid concentrations and cardiovascular risk in women with polycystic ovary syndrome. Journal of Clinical Endocrinology and Metabolism, 61, pp. 946-951.
49. Wild, S., Pierpoint, T., McKeigue, P. and Jacobs, H. (2000) Cardiovascular disease in women with polycystic ovary syndrome at long term follow up: A retrospective cohort study. Clinical Endocrinology, 52, pp. 595-600.
50. Wilkinson, P., Sayer, J., Laji, K., Grundy, C., Marchant, B., Kopelman, P. and Timmis, A. D. (1996) Comparison of case fatality in South Asians and white patients after acute myocardial infarction: An observational study. British Medical Journal, 312, pp. 1330-1333.
51. Wolk, R., Berger, P., Lennon, R., Brilakis, E. S. and Somers, V. K. (2003) Body mass index: A risk factor for unstable angina and myocardial infarction in patients with angiographically confirmed coronary artery disease. Circulation, 108, pp. 2206-2211.