| http://purl.uniprot.org/citations/20466634 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/20466634 | http://www.w3.org/2000/01/rdf-schema#comment | "To explore the relationship between genetic polymorphisms in methylenetetrahydrofolate reductase (MTHFR), methionine synthase reductase (MTRR), reduced folate carrier1 (RFC-1), methionine synthase (MTR) involved in folate metabolism and the risk of offsprings of young Chinese women with Down syndrome (DS) through a case-control study, the polymorphisms of MTHFR 677C>T, MTRR 66A>G, RFC-1 80G>A, and MTR 2756A>G in 60 mothers of children with DS and 68 control mothers were investigated by PCR-RFLP. Significant differences in alle-lic frequencies were present between the cases and controls for MTHFR (Plt;0.05), but not in allelic frequencies for MTRR, RFC-1, and MTR. Homozygous MTHFR 677C>T polymorphism was more prevalent among the mothers of children with DS than among the control mothers, with an odds ratio of 3.51 (OR=3.51, 95% CI=1.30~9.46, Plt;0.05). No significant association was observed in the combined heterozygotes. In addition, the homozygous MTRR 66A>G polymorphism was independently associated with a 3.16-fold increase in estimated risk (OR=3.16, 95% CI=1.20~8.35, Plt;0.05). The increased risk of DS for homozygous RFC-1 80G>A was not associated with MTR 2756A>G. Positive interactions were found for the following genotype-pairs: MTHFR(CT+TT)/MTRR GG, MTHFR (CT+TT)/RFC-1 AA, MTHFR CC/MTR(AG+GG), MTHFR (CT+TT)/MTR AA, MTRR GG/MTR AA, and RFC-1 AA/MTRAA. In conclusion, MTHFR 677C>T and MTRR 66A>G polymorphisms are two independent risk factors for DS pregnancies in young women, but RFC-1 80G>A and MTR 2756A>G polymorphism are not independent risk factor. A role for combined genotypes in the risk of DS pregnancies cannot be excluded."xsd:string |
| http://purl.uniprot.org/citations/20466634 | http://purl.org/dc/terms/identifier | "doi:10.3724/sp.j.1005.2010.00461"xsd:string |
| http://purl.uniprot.org/citations/20466634 | http://purl.uniprot.org/core/author | "Liu H."xsd:string |
| http://purl.uniprot.org/citations/20466634 | http://purl.uniprot.org/core/author | "Zhang D."xsd:string |
| http://purl.uniprot.org/citations/20466634 | http://purl.uniprot.org/core/author | "Liu C.Q."xsd:string |
| http://purl.uniprot.org/citations/20466634 | http://purl.uniprot.org/core/author | "Liao Y.P."xsd:string |
| http://purl.uniprot.org/citations/20466634 | http://purl.uniprot.org/core/author | "Bao M.S."xsd:string |
| http://purl.uniprot.org/citations/20466634 | http://purl.uniprot.org/core/date | "2010"xsd:gYear |
| http://purl.uniprot.org/citations/20466634 | http://purl.uniprot.org/core/name | "Yi Chuan"xsd:string |
| http://purl.uniprot.org/citations/20466634 | http://purl.uniprot.org/core/pages | "461-466"xsd:string |
| http://purl.uniprot.org/citations/20466634 | http://purl.uniprot.org/core/title | "[Folate gene polymorphism and the risk of Down syndrome pregnancies in young Chinese women]."xsd:string |
| http://purl.uniprot.org/citations/20466634 | http://purl.uniprot.org/core/volume | "32"xsd:string |
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