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The Journal of Clinical Endocrinology & Metabolism Vol. 88, No. 2 673-679
Copyright © 2003 by The Endocrine Society

Homocysteine Levels and C677T Polymorphism of Methylenetetrahydrofolate Reductase in Women with Polycystic Ovary Syndrome

Francesco Orio, Jr., Stefano Palomba, Sebastiano Di Biase, Annamaria Colao, Libuse Tauchmanova, Silvia Savastano, Donato Labella, Tiziana Russo, Fulvio Zullo and Gaetano Lombardi

Department of Molecular & Clinical Endocrinology and Oncology (F.O., A.C., L.T., S.S., G.L.), University of Naples "Federico II," 80131 Naples, Italy; Chair of Obstetrics and Gynecology (S.P., T.R., F.Z.), University of Catanzaro, 88100 Catanzaro, Italy; and MeriGen Molecular Biology Laboratory (S.D.B., D.L.), 80131 Naples, Italy

Address all correspondence and requests for reprints to: Dr. Francesco Orio, Via Giovanni Santoro no.14, 84123 Salerno, Italy. E-mail: f.orio{at}tin.it.

The aim of this study was to investigate the homocysteine (Hcy) levels and the C677T polymorphism of 5,10-methylenetetrahydrofolate reductase (MTHFR), a crucial factor of the Hcy metabolism in young women with polycystic ovary syndrome (PCOS).

Seventy young women with PCOS and another 70 healthy women with low folate intake were enrolled. Cases and controls were matched for age, body mass index, and allele frequency. Hcy, vitamin B12, and folate levels were measured, and a genetic analysis of 5,10-MTHFR at nucleotide 677 was performed in all subjects.

No difference in mean Hcy levels was observed between PCOS women in comparison to the control group. Considering the different MTHFR polymorphism, no significant difference was found in serum Hcy levels between subjects with PCOS and controls showing CC (10.4 ± 3.1 vs. 9.7 ± 2.9 µmol/liter ± SD) and CT genotypes (10.9 ± 3.8 vs. 11.0 ± 3.2 µmol/liter ± SD). In subjects with a TT homozygous state, a significant (P < 0.05) difference was observed between PCOS and control women (11.5 ± 3.9 vs. 22.0 ± 7.8 µmol/liter ± SD).

In conclusion, our data show that in PCOS women, the serum Hcy levels are normal, and the C677T polymorphism of MTHFR does not influence the Hcy levels like in controls.

Abbreviations: A, Androstenedione; AUC, area under curve; BMI, body mass index; CBS, cystathione-ß-synthase; CI, confidence interval; CV, coefficient(s) of variation; CVD, cardiovascular disease; DHEAS, dehydroepiandrosterone sulfate; E2, 17ß-estradiol; Hcy, homocysteine; MTHFR, methylenetetrahydrofolate reductase; OGTT, oral glucose tolerance test; 17-OHP, 17-hydroxyprogesterone; P, progesterone; PCOS, polycystic ovary syndrome; PRL, prolactin; T, testosterone.




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