Oliveira, Kelly C.
Verreschi, Ieda T. N.
Sugawara, Eduardo K.
Silva, Vanessa C.
Galera, Bianca B.
Galera, Marcial Francis
[1, 4, 5]
Lipay, Monica V. N.
Total Authors: 8
 Univ Fed Sao Paulo, Div Endocrinol, Dept Med, Sao Paulo - Brazil
 Univ Fed Sao Paulo, Div Pediat, Dept Pediat, Sao Paulo - Brazil
 Univ Cuiaba, Div Med Genet & Mol Biol, Cuiaba, Mato Grosso - Brazil
 ABC, Fac Med, Dept Gynecol & Obstet, Div Human Reprod, Sao Paulo - Brazil
 ABC, Fac Med, Dept Gynecol & Obstet, Genet Ctr, Sao Paulo - Brazil
 Fac Med Jundiai, Dept Morphol & Basic Pathol, Div Genet, Jundiai, SP - Brazil
Total Affiliations: 6
GENETIC TESTING AND MOLECULAR BIOMARKERS;
Web of Science Citations:
Aims: To determine the frequency of C677T and A1298C polymorphisms of the MTHFR gene and correlate them with homocysteine serum levels in patients with Turner syndrome (TS) and controls. Methods: This case-control study included 78 women with TS and a control group of 372 healthy individuals without personal or family history of cardiovascular disease and cancer. C677T (rs1801133) and A1298C (rs1801131) polymorphisms were detected by polymerase chain reaction-restriction fragment-length polymorphism and the TaqMan system, respectively. Homocysteine serum levels were determined by high-performance liquid chromatography. The results were analyzed statistically, and p < 0.05 was considered to represent a significant difference. Results: The homocysteine levels change was 13.9 + 3.3 nM in patients with TS and 8.8 + 3.2nM in the control group. No significant difference between groups was found (p = 0.348). Single-marker analysis revealed no association between MTHFR C677T polymorphism and TS when genotype (p = 0.063) or allelic (p = 0.277) distribution was considered. Regarding MTHFR A1298C polymorphism, a statistical difference was found between the TS group and the control group, for both genotype (p < 0.0001) and allele (p < 0.0001) distribution. Haplotype analysis of 2 MTHFR polymorphisms identified 2 haplotypes-CC and TC-associated with TS (p < 0.001 and p = 0.0165, respectively). However, homocysteine levels were not higher in patients with haplotype risk. Conclusion: The results suggest that the C677T and A1298C polymorphisms of the MTHFR gene are not related to homocysteine levels in Brazilian patients with TS, despite the differential distribution of the mutated allele C (A1298C) in these patients. Further studies are needed to investigate the possible genetic interaction with homocysteine levels in TS. (AU)