Frequency of 677C -&gt; T and 1298A -&gt; C polymorphisms in the 5,10-methylenetetrahydrofolate reductase (MTHFR) gene in Turner syndrome individuals

Santos, Kelly Ferreira dos; Lemos-Marini, Sofia Helena Valente de; Baptista, Mónica; Bonadia, Luciana Cardoso; Júnior, Walter Pinto; Bertuzzo, Carmen Sílvia

doi:10.1590/s1415-47572006000100008

Cited by 7 publications

(11 citation statements)

References 13 publications

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“…The present observations are in confl ict with previous results of the literature, studying less than 50 TS patients with multiple karyotype presentation (13). Some considerations may be done related to the small sample of TS patients and the heterogeneity of the control group.…”

Section: Discussionsupporting

confidence: 88%

Prevalence of the polymorphism MTHFR A1298C and not MTHFR C677T is related to chromosomal aneuploidy in Brazilian Turner Syndrome patients

Oliveira

Bianco

Verreschi

et al. 2008

Arq Bras Endocrinol Metab

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Background: Dysfunctions in the folate metabolism can result in DNA hypomethylation and abnormal chromosome segregation. Two common polymorphisms of this enzyme (C677T and A1298C) reduce its activity, but when associated with aneuploidy studies the results are confl icting. The objective of the present study is to analyze the MTHFR gene polymorphisms in women with Turner Syndrome and in a control group, correlating the fi ndings to the chromosomal aneuploidy. Methods: The study comprised 140 patients with Turner Syndrome, of which 36 with chromosome mosaicism and 104 nonmosaics, and a control group of 209 fertile and healthy women without a history of any offspring with aneuploidy. Polymorphisms C677T and A1298C were studied by RFLP-PCR and the results were statistically analyzed. Results: The frequency of genotypes MTHFR 677CC, 677CT and 677TT in the patients with Turner Syndrome and chromosome mosaicism was, respectively, 58.3%, 38.9% and 2.8%. Among the patients with non-mosaic Turner Syndrome, 47.1% presented genotype 677CC, 45.2% genotype 677CT, and 7.7% genotype 677TT. Among the 209 individuals of the control group, genotypes 677CC, 677CT and 677TT were found at the following frequencies: 48.3%, 42.1% and 9.6%, respectively. As for polymorphism A1298C, the patients with Turner

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Section: Discussionsupporting

confidence: 88%

Prevalence of the polymorphism MTHFR A1298C and not MTHFR C677T is related to chromosomal aneuploidy in Brazilian Turner Syndrome patients

Oliveira

Bianco

Verreschi

et al. 2008

Arq Bras Endocrinol Metab

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“…28---30 The results regarding the contribution of these polymorphisms to the etiology of TS are conflicting, as the C677T SNP was associated with TS in one study, 28 whereas in the others it was A1298C. 28---30 The results regarding the contribution of these polymorphisms to the etiology of TS are conflicting, as the C677T SNP was associated with TS in one study, 28 whereas in the others it was A1298C.…”

Section: Chromosomal Nondisjunctionmentioning

confidence: 99%

Turner syndrome and genetic polymorphism: a systematic review

Marqui

2015

Revista Paulista de Pediatria (English Edition)

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Objective: To present the main results of the literature on genetic polymorphisms in Turner syndrome and their association with the clinical signs and the etiology of this chromosomal disorder. Data sources: The review was conducted in the PubMed database without any time limit, using the terms Turner syndrome and genetic polymorphism. A total of 116 articles were found, and based on the established inclusion and exclusion criteria 17 were selected for the review. Data synthesis: The polymorphisms investigated in patients with Turner syndrome were associated with growth deficit, causing short stature, low bone mineral density, autoimmunity and cardiac abnormalities, which are frequently found in patients with Turner syndrome. The role of single nucleotide polymorphisms in the etiology of Turner syndrome, i.e., in chromosomal nondisjunction, was also confirmed. Conclusions: Genetic polymorphisms appear to be associated with Turner syndrome. However, in view of the small number of published studies and their contradictory findings, further studies in different populations are needed in order to clarify the role of genetic variants in the clinical signs and etiology of the Turner syndrome. Síndrome de Turner; Polimorfismo genético; Síndrome de Turner e polimorfismo genético: uma revisão sistemática Resumo Objetivo: Apresentar os principais resultados dos estudos que investigaram polimorfismos genéticos em síndrome de Turner, bem como sua associação com alguns sinais clínicos e etiologia desse distúrbio cromossômico. DOI of original article: http://dx.ARTICLE IN PRESS +Model 2 Marqui ABT Hormônio do crescimento; Aneuploidia Fontes de dados: Revisão bibliográfica feita no PubMed, sem limite de período, com os seguintes termos: Turner syndrome and genetic polymorphism. Foram identificados 116 artigos e, de acordo com os critérios de inclusão e exclusão, 17 foram selecionados para leitura. Síntese dos dados: Os polimorfismos investigados em pacientes com síndrome de Turner estavam relacionados com déficit de crescimento, que causou baixa estatura, densidade mineral óssea baixa, autoimunidade e anomalias cardíacas, que podem estar presentes com frequências significativas nas pacientes. Também foi verificado o papel dos polimorfismos de único nucleotídeo (SNPs) na etiologia da síndrome de Turner, ou seja, na não disjunção cromossômica. Conclusões: Os polimorfismos genéticos parecem estar associados à síndrome de Turner. Entretanto, por conta dos poucos estudos publicados e dos achados contraditórios, pesquisas em diferentes populações são necessárias para esclarecer o papel dessas variantes genéticas para os sinais clínicos e a etiologia do distúrbio cromossômico.

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“…Santos et al [2006] evaluated the frequencies of the MTHFR 677T and 1298 C polymorphic mutations in 49 TS patients and 200 controls, and reported that the 677TT genotype was found significantly more frequently among Turner patients. Santos et al [2006] evaluated the frequencies of the MTHFR 677T and 1298 C polymorphic mutations in 49 TS patients and 200 controls, and reported that the 677TT genotype was found significantly more frequently among Turner patients.…”

Section: Discussionmentioning

confidence: 99%

“…Patients with Turner syndrome (TS) show a high frequency of chromosome mosaicism [Santos et al, 2006], and thus represent an interesting model in which to investigate the effects of folate pathway polymorphisms as possible risk factors for somatic chromosomal nondisjunction. TS is characterized by the absence or abnormality of one sex chromosome in either all or some cells.…”

Section: Introductionmentioning

confidence: 99%

“…TS is characterized by the absence or abnormality of one sex chromosome in either all or some cells. To date, two studies have evaluated the influence of two common MTHFR polymorphisms (677C>T and 1298A>C) and nondisjunction in Turner syndrome, and have reported conflicting results [Santos et al, 2006;Oliveira et al, 2008]. Therefore, virtually every live-born TS individual must comprise more than one cell line, thus constituting a mosaic [Oliveira et al, 2009;Hook and Warburton, 2014].…”

Section: Introductionmentioning

confidence: 99%

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Polymorphisms in folate pathway genes are not associated with somatic nondisjunction in turner syndrome

Bispo

Santos

Barros

et al. 2015

American J of Med Genetics Pt A

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Folate metabolism dysfunction can lead to DNA hypomethylation and abnormal chromosomal segregation. Previous investigations of this association have produced controversial results. Here we performed a case-control study in patients with Turner syndrome (TS) to determine the effects of genetic polymorphisms of folate pathway genes as potential risk factors for somatic chromosomal nondisjunction. TS is a useful model for this investigation because patients with TS show a high frequency of chromosome mosaicism. Here we investigated the possible association of polymorphisms of the MTHFR gene with TS risk, which has been previously investigated with controversial results. We also examined the effects of MTR, RFC1, and TYMS gene polymorphisms in TS for the first time. The risk was evaluated according to allelic and genotype (independent and combined) frequencies among 70 patients with TS and 144 age-matched healthy control subjects. Polymorphism genotyping was performed by PCR, PCR-RFLP, and PCR-ASA. The polymorphisms MTHFR 677C>T and 1298A>C, MTR 2756A>G, RFC1 80G>A, and TYMS 2R/3R-alone or in combinations-were not associated with the risk of chromosomal aneuploidy in TS. In conclusion, our present findings did not support a link between impaired folate metabolism and abnormal chromosome segregation leading to somatic nondisjunction in TS patients.

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Frequency of 677C -> T and 1298A -> C polymorphisms in the 5,10-methylenetetrahydrofolate reductase (MTHFR) gene in Turner syndrome individuals

Cited by 7 publications

References 13 publications

Prevalence of the polymorphism MTHFR A1298C and not MTHFR C677T is related to chromosomal aneuploidy in Brazilian Turner Syndrome patients

Prevalence of the polymorphism MTHFR A1298C and not MTHFR C677T is related to chromosomal aneuploidy in Brazilian Turner Syndrome patients

Turner syndrome and genetic polymorphism: a systematic review

Polymorphisms in folate pathway genes are not associated with somatic nondisjunction in turner syndrome

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