| http://purl.uniprot.org/citations/19956544 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/19956544 | http://www.w3.org/2000/01/rdf-schema#comment | "BackgroundType 1 diabetes (T1D) is a multifactorial autoimmune disorder where interaction and integration of immune response genes along with environmental factors play a role in autoimmune destruction of the insulin producing Pancreatic Beta cells.Methodology/principal findingsWe have studied four single nucleotide polymorphisms (FokI site in Exon 2, BsmI and ApaI sites in Intron 8 and TaqI site in exon 9) in the vitamin D receptor (VDR) gene using PCR-RFLP and HLA-DRB1 alleles using PCR and hybridization with sequence specific oligonucleotide probes and studied their interaction using LD based statistics for non-linked loci followed by sequence analysis of the vitamin D response element (VDRE) present in the promoter region of HLA-DRB1 0301. Haplotypes, constructed using SHEsis program for four single nucleotide polymorphisms in the VDR gene, were studied for their interaction with HLA-DRB1 alleles in 233 T1D patients and 191 healthy controls from North India. A significant increase of haplotypes FBAt and fBAT (p<0.02, OR = 1.44 and p<0.002, OR = 3.23 respectively) was observed in the patients. Both the haplotypes FBAt and fBAT were significantly increased in male patients with age at onset less than 18 years; however, fBAT was significantly increased in female patients irrespective of their age at onset. LD based statistics showed significant interaction between the high producer F and T alleles with HLA-DRB1 0301. F and T alleles of VDR have been shown to contribute to VDR mRNA independently. The promoter sequence analysis of HLA-DRB1 0301 showed presence of VDRE involved in higher expression of HLA-DRB1 030, which was confirmed by flow cytometry and real time PCR analysis.Conclusions/significanceThese data suggest that the interaction between VDR and HLA alleles is mediated by VDRE present in the promoter region of HLA-DRB1 0301 allele, which may be detrimental for the manifestation of T1D in the absence of 1,25-(OH)(2)D(3) in early childhood due to poor expression of DRB1 0301 in the thymus resulting in autoimmunity."xsd:string |
| http://purl.uniprot.org/citations/19956544 | http://purl.org/dc/terms/identifier | "doi:10.1371/journal.pone.0008023"xsd:string |
| http://purl.uniprot.org/citations/19956544 | http://purl.uniprot.org/core/author | "Kumar A."xsd:string |
| http://purl.uniprot.org/citations/19956544 | http://purl.uniprot.org/core/author | "Goswami R."xsd:string |
| http://purl.uniprot.org/citations/19956544 | http://purl.uniprot.org/core/author | "Rani R."xsd:string |
| http://purl.uniprot.org/citations/19956544 | http://purl.uniprot.org/core/author | "Israni N."xsd:string |
| http://purl.uniprot.org/citations/19956544 | http://purl.uniprot.org/core/date | "2009"xsd:gYear |
| http://purl.uniprot.org/citations/19956544 | http://purl.uniprot.org/core/name | "PLoS One"xsd:string |
| http://purl.uniprot.org/citations/19956544 | http://purl.uniprot.org/core/pages | "e8023"xsd:string |
| http://purl.uniprot.org/citations/19956544 | http://purl.uniprot.org/core/title | "Interaction of vitamin D receptor with HLA DRB1 0301 in type 1 diabetes patients from North India."xsd:string |
| http://purl.uniprot.org/citations/19956544 | http://purl.uniprot.org/core/volume | "4"xsd:string |
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