| http://purl.uniprot.org/citations/24333266 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/24333266 | http://www.w3.org/2000/01/rdf-schema#comment | "The current study was conducted to elucidate the effect of genetic variations in one-carbon metabolism on the epigenetic regulation of major histocompatibility complex II transactivator (MHC2TA), reduced folate carrier 1 (RFC1/SLC19A1) and human leukocyte antigen (HLA)-DR in systemic lupus erythematosus (SLE). PCR-RFLP/AFLP, bisulfite-sequencing and real-time PCR approaches were used for genetic, epigenetic and expression analysis respectively. SLE cases exhibited elevated plasma homocysteine levels compared to healthy controls (24.93 ± 1.3 vs. 11.67 ± 0.48 μmol/l), while plasma folate levels showed no association (7.10 ± 2.49 vs. 7.64 ± 2.09 ng/ml). The RFC1 80G>A polymorphism showed 1.32-fold risk (95% CI: 1.02-1.72) for SLE, while glutamate carboxypeptidase II (GCPII) 1561C>T showed reduced risk (OR: 0.47, 95% CI: 0.24-0.90). The expression of RFC1 (0.37 ± 0.09 vs. 0.60 ± 0.17) and HLA-DR (0.68 ± 0.17 vs. 0.98 ± 0.02) was down regulated in the SLE cases. The hypermethylation of RFC1 as observed in the current study may contribute for its down regulation. Plasma folate and thymidylate synthase (TYMS) 5'-UTR 28 bp tandem repeat showed an inverse association with methylation of RFC1 and MHC2TA. SLE cases with hypocomplementemia showed hypermethylation of RFC1, hypomethylation/up regulation of MHC2TA and down regulation of HLA-DR. The hypermethylation of MHC2TA and down regulation of RFC1, MHC2TA and HLA-DR were observed in anti-cardiolipin antibody positive SLE cases. The up regulation of RFC1 and HLA-DR was observed in anti-dsDNA antibody positive SLE cases. The hypomethylation/upregulation of RFC1 and MHC2TA was observed in anti-RNP antibody positive cases. To conclude, one-carbon genetic variants influence epigenetic of MHC2TA and RFC1, thus contributing to phenotypic heterogeneity of SLE."xsd:string |
| http://purl.uniprot.org/citations/24333266 | http://purl.org/dc/terms/identifier | "doi:10.1016/j.gene.2013.11.094"xsd:string |
| http://purl.uniprot.org/citations/24333266 | http://purl.uniprot.org/core/author | "Naushad S.M."xsd:string |
| http://purl.uniprot.org/citations/24333266 | http://purl.uniprot.org/core/author | "Rajasekhar L."xsd:string |
| http://purl.uniprot.org/citations/24333266 | http://purl.uniprot.org/core/author | "Kutala V.K."xsd:string |
| http://purl.uniprot.org/citations/24333266 | http://purl.uniprot.org/core/author | "Rupasree Y."xsd:string |
| http://purl.uniprot.org/citations/24333266 | http://purl.uniprot.org/core/date | "2014"xsd:gYear |
| http://purl.uniprot.org/citations/24333266 | http://purl.uniprot.org/core/name | "Gene"xsd:string |
| http://purl.uniprot.org/citations/24333266 | http://purl.uniprot.org/core/pages | "45-52"xsd:string |
| http://purl.uniprot.org/citations/24333266 | http://purl.uniprot.org/core/title | "Epigenetic modulation of RFC1, MHC2TA and HLA-DR in systemic lupus erythematosus: association with serological markers and six functional polymorphisms of one-carbon metabolic pathway."xsd:string |
| http://purl.uniprot.org/citations/24333266 | http://purl.uniprot.org/core/volume | "536"xsd:string |
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