A80G polymorphism of reduced folate carrier 1 (RFC1) and C776G polymorphism of transcobalamin 2 (TC2) genes in Down's syndrome etiology

Biselli, Joice Matos; Brumati, Daniela; Frigeri, Vivian Fernanda; Zampieri, Bruna Lancia; Goloni-Bertollo, Eny Maria; Pavarino, Érika Cristina

doi:10.1590/s1516-31802008000600007

Cited by 19 publications

(13 citation statements)

References 31 publications

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“…However, no association was observed between the TC C776G polymorphism and the maternal risk of having a child with DS in the present study. This result was consistent with previous research from Brazil (Biselli et al, 2008a;Fintelman-Rodrigues et al, 2009). However, we found that the heterozygous mutation frequency was higher among case mothers (55.3%) than among control mothers (39.8%), although not at a statistically significant level (P = 0.086).…”

Section: Discussionsupporting

confidence: 94%

“…However, we found that the heterozygous mutation frequency was higher among case mothers (55.3%) than among control mothers (39.8%), although not at a statistically significant level (P = 0.086). In addition, the frequency of the GG homozygous genotype, the mutant genotype, was higher in the Chinese population (34.3% in control mothers) than in the Brazilian population (9.7% in control mothers) (Biselli et al, 2008a). We also observed that allele and genotype frequencies in our study were quite similar to those seen from another group in the Chinese population.…”

Section: Discussionsupporting

confidence: 82%

“…MTHFD G1958A and TC C776G genotypes were analyzed by polymerase chain reaction and restriction fragment length polymorphism (PCR-RFLP) according to the protocol described by Neagos et al (2010) and Biselli et al (2008a), respectively. The primers for amplification of MTHFD G1958A polymorphism were: forward 5'-CCT GGT TTC CAC AGG GCA CTC-3', and reverse 5'-CCA CGT GGG GGC AGA GGC CGG AAT ACC GG-3'.…”

Section: Genotype Analysesmentioning

confidence: 99%

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Combined folate gene MTHFD and TC polymorphisms as maternal risk factors for Down syndrome in China

Liao¹,

Zhang²,

Zhou³

et al. 2014

Genet. Mol. Res.

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ABSTRACT. We examined whether polymorphisms in the methylenetetrahydrofolate dehydrogenase (MTHFD) and transcobalamin (TC) genes, which are involved in folate metabolism, affect maternal risk for Down syndrome. We investigated 76 Down syndrome mothers and 115 control mothers from Bengbu, China. Genomic DNA was isolated from the peripheral lymphocytes. Polymerase chain reaction and restriction fragment length polymorphism were used to examine the polymorphisms of MTHFD G1958A and TC C776G. The frequencies of the polymorphic alleles were 24.3 and 19.1% for MTHFD 1958A, 53.9 and 54.2% for TC 776G, in the case and control groups, respectively. No significant differences were found between two groups in relation to either the allele or the genotype frequency for both polymorphisms. However, when gene-gene interactions between these two polymorphisms together with previous studied C677T and A1298C polymorphisms in the methylenetetrahydrofolate reductase (MTHFR) 1765©FUNPEC-RP www.funpecrp.com.br Genetics and Molecular Research 13 (1): 1764-1773 (2014) Folate gene polymorphisms and the risk of Down syndrome gene were analyzed, the combined MTHFR 677CT/TT and MTHFD 1958AA/GA genotype was found to be significantly associated with the risk of having a Down syndrome child [odds ratio (OR) = 3.11; 95% confidence interval (95%CI) = 1.07-9.02]. In addition, the combined TC 776CG and MTHFR 677TT genotype increased the risk of having a child with Down syndrome 3.64-fold (OR = 3.64; 95%CI = 1.28-10.31).In conclusion, neither MTHFD G1958A nor TC C776G polymorphisms are an independent risk factor for Down syndrome. However, the combined MTHFD/MTHFR, TC/MTHFR genotypes play a role in the risk of bearing a Down syndrome child in the Chinese population.

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Section: Discussionsupporting

confidence: 94%

Section: Discussionsupporting

confidence: 82%

Section: Genotype Analysesmentioning

confidence: 99%

See 1 more Smart Citation

Combined folate gene MTHFD and TC polymorphisms as maternal risk factors for Down syndrome in China

Liao¹,

Zhang²,

Zhou³

et al. 2014

Genet. Mol. Res.

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“…Few studies have evaluated the influence of the RFC1 80 A→G polymorphism on DS risk (J.M. Biselli, 2008aBiselli, , 2008cChango et al, 2005;Coppedè et al, 2006). Some studies have found no association between this polymorphism and DS (Chango et al 2005 (Chango et al, 2000).…”

Section: Folate Metabolism Genomic Stability and Maternal Risk For mentioning

confidence: 99%

“…This polymorphism has only been investigated in DS risk by two groups to date (J.M. Biselli et al, 2008c;Fintelman-Rodrigues et al, 2009), but no association has been found. The conflicting results shown by literature have raised the suggestion that the presence of individual polymorphisms in genes involved in folate metabolism might not increase the risk of having a child with DS, although the effect of combined risk genotypes might modify their individual effect and increase DS risk (J.M., Biselli et al, 2008a;Brandalize et al, 2010;Coppedè et al, 2006;Coppedè et al, 2009;da Silva et al, 2005;Martínez-Frías, et al, 2006;Scala et al, 2006;Wang et al, 2008).…”

Section: Folate Metabolism Genomic Stability and Maternal Risk For mentioning

confidence: 99%

Abnormal Folate Metabolism and Maternal Risk for Down Syndrome

Pavarino¹,

Zampieri²,

Biselli³

et al. 2011

Genetics and Etiology of Down Syndrome

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A80G polymorphism of reduced folate carrier 1 (RFC1) gene and head and neck squamous cell carcinoma etiology in Brazilian population

et al. 2010

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Reduced folate carrier is an essential folate transporter and the A80G polymorphism in reduced folate carrier 1 gene (rs1051266) has been shown to be associated with alterations in folate metabolism and consequently cancer development. We evaluated the association of this polymorphism with head and neck squamous cell carcinoma risk in a case-control study of 322 head and neck carcinoma patients and 531 individuals without cancer in a Brazilian population and association of this polymorphism with clinical histopathological parameters, and gender and lifestyle factors. The PCR-RFLP technique was used to genotype the polymorphism and multiple logistic regression was used for comparison between the groups and for interaction between the polymorphism and risk factors and clinical histopathological parameters. We observed association between the RFC1 A80G polymorphism and the risk of this disease. Male gender, tobacco habit and RFC1 AG or GG genotypes may be predictors of this disease (P < 0.05). The genotype, 80AG or GG was associated with for >50 years, male gender and non alcohol consumption (P ≤ 0.05). The polymorphism did not show any association with the primary site, aggressiveness, lymph node involvement or extension of the tumor. In conclusion tobacco and male gender are associated with etiology of this disease and our data provide evidence that supports an association between the RFC1 A80G polymorphism and head and neck squamous cell carcinoma risk, male gender, alcohol non consumption and age over 50 years. However, further studies of folate and plasma concentrations may contribute to the better understanding of the factors involved in the head and neck squamous cell carcinoma etiology.

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A80G polymorphism of reduced folate carrier 1 (RFC1) and C776G polymorphism of transcobalamin 2 (TC2) genes in Down's syndrome etiology

Cited by 19 publications

References 31 publications

Combined folate gene MTHFD and TC polymorphisms as maternal risk factors for Down syndrome in China

Combined folate gene MTHFD and TC polymorphisms as maternal risk factors for Down syndrome in China

Abnormal Folate Metabolism and Maternal Risk for Down Syndrome

A80G polymorphism of reduced folate carrier 1 (RFC1) gene and head and neck squamous cell carcinoma etiology in Brazilian population

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