Plasminogen activator inhibitor-1 4G/5G and 5,10-methylene-tetrahydrofolate reductase C677T polymorphisms in polycystic ovary syndrome

Molecular Human Reproduction

Volumn 15, Issue 1, 2009, Pages 19-26

  Bagos, Pantelis G ^a  

^a UNIVERSITY OF CENTRAL GREECE   (Greece)

Author keywords

Genetic epidemiology; Meta analysis; MTHFR; PAI 1; Polycystic ovary syndrome

Indexed keywords

5,10 METHYLENETETRAHYDROFOLATE REDUCTASE (FADH2); PLASMINOGEN ACTIVATOR INHIBITOR 1;

ARTICLE; CONTROLLED STUDY; DIABETES MELLITUS; FEMALE; GENE FREQUENCY; GENETIC POLYMORPHISM; GENOTYPE; HOMOZYGOTE; HUMAN; HYPERTENSION; INHERITANCE; METABOLIC SYNDROME X; OVARY POLYCYSTIC DISEASE; PATHOGENESIS; PRIORITY JOURNAL; RISK ASSESSMENT;

FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HUMANS; META-ANALYSIS AS TOPIC; METHYLENETETRAHYDROFOLATE REDUCTASE (NADPH2); PLASMINOGEN ACTIVATOR INHIBITOR 1; POLYCYSTIC OVARY SYNDROME; POLYMORPHISM, GENETIC;

EID: 60349131349     PISSN: 13609947     EISSN: 14602407     Source Type: Journal    
DOI: 10.1093/molehr/gan072     Document Type: Article

References (76)

1. Asuncion M, Calvo RM, San Millan JL, Sancho J, Avila S, Escobar-Morreale HF. A prospective study of the prevalence of the polycystic ovary syndrome in unselected Caucasian women from Spain. J Clin Endocrinol Metab 2000;85:2434-2438.
2. Atiomo WU, Bates SA, Condon JE, Shaw S, West JH, Prentice AG. The plasminogen activator system in women with polycystic ovary syndrome. Fertil Steril 1998;69:236-241.
3. Azziz R, Woods KS, Reyna R, Key TJ, Knochenhauer ES, Yildiz BO. The prevalence and features of the polycystic ovary syndrome in an unselected population. J Clin Endocrinol Metab 2004;89 2745-2749.
4. Bagos PG. A unification of multivariate methods for meta-analysis of genetic association studies. Stat Appl Genet Mol Biol 2008;7 Article 31.
5. Bagos PG, Nikolopoulos GK. A method for meta-analysis of case-control genetic association studies using logistic regression. Stat Appl Genet Mol Biol 2007;6: Article 17.
6. Banerjee I, Gupta V, Ganesh S. Association of gene polymorphism with genetic susceptibility to stroke in Asian populations: A meta-analysis. J Hum Genet 2007;52:205-219.
7. Begg CB, Mazumdar M. Operating characteristics of a rank correlation test for publication bias. Biometrics 1994;50:1088-1101.
8. Berberoglu M, Evliyaoglu O, Adiyaman P, Ocal G, Ulukol B, Simsek F, Siklar Z, Torel A, Ozel D, Akar N. Plasminogen activator inhibitor-1 (PAI-1) gene polymorphism (-675 4G/5G) associated with obesity and vascular risk in children. J Pediatr Endocrinol Metab 2006;19 741-748.
9. Bloom MS, Schisterman EF, Hediger ML. Selecting controls is not selecting "normals": Design and analysis issues for studying the etiology of polycystic ovary syndrome. Fertil Steril 2006;86 1-12.
10. Carlsen SM, Kjotrod S, Vanky E, Romundstad P. Homocysteine levels are unaffected by metformin treatment in both nonpregnant and pregnant women with polycystic ovary syndrome. Acta Obstet Gynecol Scand 2007; 86:145-150.
11. Chen X, Yang D, Mo Y, Li L, Chen Y, Huang Y. Prevalence of polycystic ovary syndrome in unselected women from southern China. Eur J Obstet Gynecol Reprod Biol 2008;139:59-64.
12. Conn VS, Valentine JC, Cooper HM, Rantz MJ. Grey literature in meta-analyses. Nurs Res 2003;52:256-261.
13. DerSimonian R, Laird N. Meta-analysis in clinical trials. Controlled Clin Trials 1986;7:177-188.
14. Devin JK, Johnson JE, Eren M, Gleaves LA, Bradham WS, Bloodworth JR Jr Vaughan DE. Transgenic overexpression of plasminogen activator inhibitor-1 promotes the development of polycystic ovarian changes in female mice. J Mol Endocrinol 2007;39:9-16.
15. Diamanti-Kandarakis E. Polycystic ovarian syndrome: Pathophysiology, molecular aspects and clinical implications. Expert Rev Mol Med 2008; 10:e3.
16. Diamanti-Kandarakis E, Piperi C. Genetics of polycystic ovary syndrome: searching for the way out of the labyrinth. Hum Reprod Update 2005; 11:631-643.
17. Diamanti-Kandarakis E, Economou F. Stress in women: Metabolic syndrome and polycystic ovary syndrome. Ann N Y Acad Sci 2006; 1083 54-62.
18. Diamanti-Kandarakis E, Kouli CR, Bergiele AT, Filandra FA, Tsianateli TC, Spina GG, Zapanti ED, Bartzis MI. A survey of the polycystic ovary syndrome in the Greek island of Lesbos: Hormonal and metabolic profile. J Clin Endocrinol Metab 1999;84:4006-4011.
19. Diamanti-Kandarakis E, Palioniko G, Alexandraki K, Bergiele A, Koutsouba T, Bartzis M. The prevalence of 4G5G polymorphism of plasminogen activator inhibitor-1 (PAI-1) gene in polycystic ovarian syndrome and its association with plasma PAI-1 levels. Eur J Endocrinol 2004; 150:793-798.
20. Dokras A. Cardiovascular disease risk factors in polycystic ovary syndrome. Semin Reprod Med 2008;26:39-44.
21. Egger M, Davey Smith G, Schneider M, Minder C. Bias in meta-analysis detected by a simple, graphical test. Bmj 1997;315:629-634.
22. Ehrmann DA. Polycystic ovary syndrome. N Engl J Med 2005:352 1223-1236.
23. Elghblawl E. Polycystic ovary syndrome and female reproduction. Br J Nurs 2007;16:1118-1121.
24. Eriksson P, Kallin B, van't Hooft FM, Bavenholm P, Hamsten A. Allele-specific increase in basal transcription of the plasminogen-activator inhibitor I gene is associated with myocardial infarction. Proc Natl Acad Sci USA 1995;92:1851-1855.
25. Essah PA, Wickham EP, Nestler JE. The metabolic syndrome in polycystic ovary syndrome. Clin Obstet Gynecol 2007;50:205-225.
26. Frosst P, Blom HJ, Milos R, Goyette P, Sheppard CA, Matthews RG, Boers GJ, den Heijer M, Kluijtmans LA, van den Heuvel LP et al. A candidate genetic risk factor for vascular disease: A common mutation in methylenetetrahydrofolate reductase. Nat Genet 1995;10: 111-113.
27. Glueck CJ, Sieve L, Zhu B, Wang P. Plasminogen activator inhibitor activity, 4G5G polymorphism of the plasminogen activator inhibitor I gene, and first-trimester miscarriage in women with polycystic ovary syndrome. Metabolism 2006;55:345-352.
28. Glueck CJ, Wang P, Fontaine R, Tracy T, Sieve-Smith L. Metformin-induced resumption of normal menses in 39 of 43 (91%) previously amenorrheic women with the polycystic ovary syndrome. Metabolism 1999a;48 511-519.
29. Glueck CJ, Wang P, Fontaine RN, Sieve-Smith L, Tracy T, Moore SK. Plasminogen activator inhibitor activity: An independent risk factor for the high miscarriage rate during pregnancy in women with polycystic ovary syndrome. Metabolism 1999b;48:1589-1595.
30. Greenland S. Meta-analysis. In: Rothman KJ, Greenland S (eds). Modern Epidemiology. Lippincott Williams & Wilkins, 1938, 643-673.
31. Higgins JP, Thompson SG, Deelts JJ, Altman DG. Measuring inconsistency in meta-analyses. BMJ 2003;327:557-560.
32. Hoffstedt J, Andersson IL, Persson L, Isaksson B, Amer P. The common -675 4G/SG polymorphism in the plasminogen activator inhibitor-I gene is strongly associated with obesity. Diabetologia 2002;45: 584-587.
33. Hunter MH, Sterrett JJ. Polycystic ovary syndrome: It's not just infertility. Am Fam Physician 2000;62:1079-1088, 1090.
34. Ioannidis JP, Trikalinos TA. Early extreme contradictory estimates may appear in published research: The Proteus phenomenon in molecular genetics research and randomized trials. J Clin Epidemiol 2005; 58: 543-549.
35. Ioannidis JP, Ntzani EE, Trikalinos TA, Contopoulos-Ioannidis DG. Replication validity of genetic association studies. Nat Genet 2001; 29:306-309.
36. Ioannidis JP, Rosenberg PS, Goedert JJ, O'Brien TR. Commentary: meta-analysis of individual participants' data in genetic epidemiology. Am J Epidemiol 2002;156:204-210.
37. Ioannidis JP, Trikalinos TA, Ntzani EE, Contopoulos-Ioannidis DG. Genetic associations in large versus small studies: An empirical assessment. Lancet 2003;361:567-571.
38. Karadeniz M, Erdogan M, Berdeli A, Saygili F, Yilmaz C. 4G/5G polymorphism of PAI-I gene and Alu-repeat I/D polymorphism of TPA gene in Turkish patients with polycystic ovary syndrome. J Assist Reprod Genet 2007;24:412-418.
39. Knochenhauer ES, Key TJ, Kahsar-Miller M, Waggoner W, Boots LR, Azziz R. Prevalence of the polcystic ovary syndrome in unselected black and white women of the southeastern United States: A prospective study. J Clin Endocrinol Metab 1998;83:3078-3082.
40. Lau J, Antman EM, Jimenez-Silva J, Kupelnick B, Mosteller F, Chalmers TC. Cumulative meta-analysis of therapeutic trials for myocardial infarction. N Engl J Med 1992;327:248-254.
41. Lau J, Schmid CH, Chalmers TC. Cumulative meta-analysis of clinical trials builds evidence for exemplary medical care. J Clin Epidemiol 1995; 48:45-57. discussion 59-60.
42. Lewis SJ, Ebrahim S, Davey Smith G. Meta-analysis of MTHFR 677C->T polymorphism and coronary heart disease: Does totality of evidence support causal role for homocysteine and preventive potential of folate? BMJ 2005;331:1053.
43. Lopes C, Dina C, Durand E, Froguel P. PAI-1 polymorphisms modulate phenotypes associated with the metabolic syndrome in obese and diabetic Caucasian population. Diabetologia 2003;46: 1284-1290.
44. Lopez-Bermejo A, Casano-Sancho P, Petry CJ, Jaramillo AM, Rodriguez-Gonzalez FX, Dunger DB, de Zegher F, Ibanez L. Insulin resistance after precocious pubarche: Relation to PAI-1-675 4G/5G polymorphism, and opposing influences of prenatal and postnatal weight gain. Clin Endocrinol (Oxf) 2007;67:493-499.
45. Luque-Ramirez M, San Millan JL, Escobar-Morreale HF. Genomic variants in polycystic ovary syndrome. Clin Chim Acta 2006;366:14-26.
46. McCormack LJ, Nagi DK, Stickland MH, Mansfield MW, Mohamed-Ali V, Yudkin JS, Knowler WC, Grant PJ. Promoter (4G/5G) plasminogen activator inhibitor-1 genotype in Pima Indians: Relationship to plasminogen activator inhibitor-1 levels and features of the insulin resistance syndrome. Diabetologia 1996;39:1512-1518.
47. Minelli C, Thompson JR, Tobin MD, Abrams KR. An integrated approach to the meta-analysis of genetic association studies using Mendelian randomization. Am J Epidemiol 2004;160:445-452.
48. Minelli C, Thompson JR, Abrams KR, Thakkinstian A, Attia J. The choice of a genetic model in the meta-analysis of molecular association studies. Int J Epidemiol 2005;34:1319-1328.
49. Norman RJ, Dewailly D, Legro RS, Hickey TE. Polycystic ovary syndrome. Lancet 2007;370:685-697.
50. Orio F Jr, Palomba S, Di Biase S, Colao A, Tauchmanova L, Savastano S, Labella D, Russo T, Zullo F, Lombardi G. Homocysteine levels and C677T polymorphism of methylenetetrahydrofolate reductase in women with polycystic ovary syndrome. J Clin Endocrinol Metab 2003; 88 673-679.
51. Orio F Jr Palomba S, Cascella T, Tauchmanova L, Nardo LG, Di Biase S, Labella D, Russo T, Savastano S, Tolino A et al. Is plasminogen activator inhibitor-1 a cardiovascular risk factor in young women with polycystic ovary syndrome? Reprod Biomed Online 2004;9: 505-510.
52. Palep-Singh M, Picton HM, Yates ZR, Barth J, Balen AH. Polycystic ovary syndrome and the single nucleotide polymorphisms of methylenetetrahydrofolate reductase: A pilot observational study. Hum Fertil (Camb) 2007;10:33-41.
53. Pan Z, Trikalinos TA, Kavvoura FK, Lau J, Ioannidis JP. Local literature bias in genetic epidemiology: An empirical evaluation of the Chinese literature. PLoS Med 2005;2:e334.
54. Pasquali R, Gambineri A. Polycystic ovary syndrome: A multifaceted disease from adolescence to adult age. Ann N Y Acad Sci 2006; 1092:158-174.
55. Petiti DB. Meta-analysis Decision Analysis and Cost-Effectiveness Analysis, Vol. 24. Oxford University Press, 1994.
56. Qian X, Lu Z, Tan M, Liu H, Lu D. A meta-analysis of association between C677T polymorphism in the methylenetetrahydrofolate reductase gene and hypertension. Eur J Hum Genet 2007;15:1239-1245.
57. San Millan JL, Corton M, Villuendas G, Sancho J, Peral B, Escobar-Morreale HF. Association of the polycystic ovary syndrome with genomic variants related to insulin resistance, type 2 diabetes mellitus, and obesity. J Clin Endocrinol Metab 2004;89 2640-2646.
58. Sills ES, Genton MG, Perloe M, Schattman GL, Bralley JA, Tucker MJ. Plasma homocysteine, fasting insulin, and androgen patterns among women with polycystic ovaries and infertility. J Obstet Gynaecol Res 2001;27:163-168.
59. Sprengers ED, Kluft C. Plasminogen activator inhibitors. Blood 1987;69: 381-387.
60. Steinberg KK, Smith SJ, Stroup DF, Olkin I, Lee NC, Williamson GD, Thacker SB. Comparison of effect estimates from a meta-analysis of summary data from published studies and from a meta-analysis using individual patient data for ovarian cancer studies. Am J Epidemiol 1997; 145:917-925.
61. Sterne JA, Gavaghan D, Egger M. Publication and related bias in meta-analysis: Power of statistical tests and prevalence in the literature. J Clin Epidemiol 2000;53:1119-1129.
62. Stroup DF, Berlin JA, Morton SC, Olkin I, Williamson GD, Rennie D, Moher D, Becker BJ, Sipe TA, Thacker SB. Meta-analysis of observational studies in epidemiology: A proposal for reporting. Meta-analysis Of Observational Studies in Epidemiology (MOOSE) group. Jama 2000; 283:2008-2012.
63. Tarkun I, Canturk Z, Arslan BC, Turemen E, Tarkun P. The plasminogen activator system in young and lean women with polycystic ovary syndrome. Endocr J 2004;51:467-472.
64. Thompson SG, Sharp SJ. Explaining heterogeneity in meta-analysis: A comparison of methods. Stat Med 1999;18:2693-2708.
65. Thompson SG, Higgins JP. How should meta-regression analyses be undertaken and interpreted? Stat Med 2002;21:1559-1573.
66. Trikalinos TA, Salanti G, Khoury MJ, Ioannidis JP. Impact of violations and deviations in Hardy-Weinberg equilibrium on postulated gene-disease associations. Am J Epidemiol 2006;163:300-309.
67. Tsanadis G, Vartholomatos G, Korkontzelos I, Avgoustatos F, Kakosimos G, Sotiriadis A, Tatsioni A, Eleftheriou A, Lolis D. Polycystic ovarian syndrome and thrombophilia. Hum Reprod 2002; 17:314-319.
68. Tsantes AE, Nikolopoulos GK, Bagos PG, Rapti E, Mantzios G, Kapsimali V, Travlou A. Association between the plasminogen activator inhibitor-1 4G/ 5G polymorphism and venous thrombosis. A meta-analysis. Thromb Haemost 2007a;97:907-913.
69. Tsantes AE, Nikolopoulos GK, Bagos PG, Tsiara CG, Kapsimali V, Travlou A, Vaiopoulos G. Plasminogen activator inhibitor-1 4G/5G polymorphism and risk of ischemic stroke: A meta-analysis. Blood Coagul Fibrinolysis 2007b;18:497-504.
70. Urbanek M. The genetics of the polycystic ovary syndrome. Nat Clin Pract Endocrinol Metab 2007;3:103-111.
71. Velazquez EM, Mendoza SG, Wang P, Glueck CJ. Metformin therapy is associated with a decrease in plasma plasminogen activator inhibitor-1, lipoprotein(a), and immunoreactive insulin levels in patients with the polycystic ovary syndrome. Metabolism 1997; 46:454-457.
72. Walch K, Grimm C, Huber JC, Nagele F, Kolbus A, Hefler LA. A polymorphism of the plasminogen activator inhibitor-1 gene promoter and the polycystic ovary syndrome. Eur J Obstet Gynecol Reprod Biol 2005;123:77-81.
73. Ye Z, Liu EH, Higgins JP, Keavney BD, Lowe GD, Collins R, Danesh J. Seven haemostatic gene polymorphisms in coronary disease: Meta-analysis of 66,155 cases and 91,307 controls. Lancet 2006; 367 651-658.
74. Zhao JL, Chen ZJ, Zhao YR, Zhao LX, Wang LC, Tang R, Ma ZX. Correlation between 4G and 5G genetypes distribution of plasminogen activator inhibitor-1 gene polymorphism in its promoter region with polycystic ovarian syndrome. Zhonghua Fu Chan Ke Za Zhi 2005;40:528-531.
75. Zintzaras E, Chatzoulis DZ, Karabatsas CH, Stefanidis I. The relationship between C677T methylenetetrahydrofolate reductase gene polymorphism and retinopathy in type 2 diabetes: A meta-analysis. J Hum Genet 2005;50:267-275.
76. Zintzaras E, Uhlig K, Koukoulis GN, Papathanasiou AA, Stefanidis I. Methylenetetrahydrofolate reductase gene polymorphism as a risk factor for diabetic nephropathy: A meta-analysis. J Hum Genet 2007; 52 881-890.