C677T and A1298C Polymorphisms of MTHFR Gene and Their Relation to Homocysteine Levels in Turner Syndrome

C677T and A1298C Polymorphisms of MTHFR Gene and Their Relation to Homocysteine Levels in Turner Syndrome

Author Oliveira, Kelly Cristina de Autor UNIFESP Google Scholar
Verreschi, Ieda T. N. Autor UNIFESP Google Scholar
Sugawara, Eduardo K. Autor UNIFESP Google Scholar
Silva, Vanessa C. Autor UNIFESP Google Scholar
Galera, Bianca B. Google Scholar
Galera, Marcial Francis Google Scholar
Bianco, Bianca Autor UNIFESP Google Scholar
Lipay, Monica V. N. Autor UNIFESP Google Scholar
Institution Universidade Federal de São Paulo (UNIFESP)
Univ Cuiaba
Fac Med Jundiai
Abstract 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.
Language English
Sponsor Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)
Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)
Grant number FAPESP: 2008/03597-0
Date 2012-05-01
Published in Genetic Testing and Molecular Biomarkers. New Rochelle: Mary Ann Liebert Inc, v. 16, n. 5, p. 396-400, 2012.
ISSN 1945-0265 (Sherpa/Romeo, impact factor)
Publisher Mary Ann Liebert Inc
Extent 396-400
Origin http://dx.doi.org/10.1089/gtmb.2011.0222
Access rights Closed access
Type Article
Web of Science ID WOS:000304448300016
URI http://repositorio.unifesp.br/handle/11600/34870

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