| pubmed-article:17003357 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:17003357 | lifeskim:mentions | umls-concept:C0011854 | lld:lifeskim |
| pubmed-article:17003357 | lifeskim:mentions | umls-concept:C1708726 | lld:lifeskim |
| pubmed-article:17003357 | lifeskim:mentions | umls-concept:C1419102 | lld:lifeskim |
| pubmed-article:17003357 | lifeskim:mentions | umls-concept:C0936012 | lld:lifeskim |
| pubmed-article:17003357 | pubmed:issue | 10 | lld:pubmed |
| pubmed-article:17003357 | pubmed:dateCreated | 2006-9-27 | lld:pubmed |
| pubmed-article:17003357 | pubmed:abstractText | A recent addition to the list of widely confirmed type 1 diabetes risk loci is the PTPN22 gene encoding a lymphoid-specific phosphatase (Lyp). However, evidence supporting a role for PTPN22 in type 1 diabetes derives entirely from the study of just one coding single nucleotide polymorphism, 1858C/T. In the current study, the haplotype structure of the PTPN22 region was determined, and individual haplotypes were tested for association with type 1 diabetes in family-based tests. The 1858T risk allele occurred on only a single haplotype that was strongly associated with type 1 diabetes (P = 7.9 x 10(-5)). After controlling for the effects of this allele, two other haplotypes were observed to be weakly associated with type 1 diabetes (P < 0.05). Sequencing of the coding region of PTPN22 on these haplotypes revealed a novel variant (2250G/C) predicted to result in a nonsynonymous amino acid substitution. Analysis of PTPN22 transcripts from a subject heterozygous for this variant indicated that it interfered with normal mRNA splicing, resulting in a premature termination codon after exon 17. These results support the conclusion that the 1858C/T allele is the major risk variant for type 1 diabetes in the PTPN22 locus, but they suggest that additional infrequent coding variants at PTPN22 may also contribute to type 1 diabetes risk. | lld:pubmed |
| pubmed-article:17003357 | pubmed:grant | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:17003357 | pubmed:language | eng | lld:pubmed |
| pubmed-article:17003357 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:17003357 | pubmed:citationSubset | AIM | lld:pubmed |
| pubmed-article:17003357 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:17003357 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
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| pubmed-article:17003357 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:17003357 | pubmed:month | Oct | lld:pubmed |
| pubmed-article:17003357 | pubmed:issn | 0012-1797 | lld:pubmed |
| pubmed-article:17003357 | pubmed:author | pubmed-author:ConcannonPatr... | lld:pubmed |
| pubmed-article:17003357 | pubmed:author | pubmed-author:BucknerJane... | lld:pubmed |
| pubmed-article:17003357 | pubmed:author | pubmed-author:Onengut-Gumus... | lld:pubmed |
| pubmed-article:17003357 | pubmed:issnType | Print | lld:pubmed |
| pubmed-article:17003357 | pubmed:volume | 55 | lld:pubmed |
| pubmed-article:17003357 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:17003357 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:17003357 | pubmed:pagination | 2883-9 | lld:pubmed |
| pubmed-article:17003357 | pubmed:dateRevised | 2007-11-15 | lld:pubmed |
| pubmed-article:17003357 | pubmed:meshHeading | pubmed-meshheading:17003357... | lld:pubmed |
| pubmed-article:17003357 | pubmed:meshHeading | pubmed-meshheading:17003357... | lld:pubmed |
| pubmed-article:17003357 | pubmed:meshHeading | pubmed-meshheading:17003357... | lld:pubmed |
| pubmed-article:17003357 | pubmed:meshHeading | pubmed-meshheading:17003357... | lld:pubmed |
| pubmed-article:17003357 | pubmed:meshHeading | pubmed-meshheading:17003357... | lld:pubmed |
| pubmed-article:17003357 | pubmed:meshHeading | pubmed-meshheading:17003357... | lld:pubmed |
| pubmed-article:17003357 | pubmed:meshHeading | pubmed-meshheading:17003357... | lld:pubmed |
| pubmed-article:17003357 | pubmed:year | 2006 | lld:pubmed |
| pubmed-article:17003357 | pubmed:articleTitle | A haplotype-based analysis of the PTPN22 locus in type 1 diabetes. | lld:pubmed |
| pubmed-article:17003357 | pubmed:affiliation | Molecular Genetics Program, Benaroya Research Institute, 1201 Ninth Ave., Seattle, WA 98101-2795, USA. | lld:pubmed |
| pubmed-article:17003357 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:17003357 | pubmed:publicationType | Research Support, Non-U.S. Gov't | lld:pubmed |
| pubmed-article:17003357 | pubmed:publicationType | Research Support, N.I.H., Extramural | lld:pubmed |
| entrez-gene:26191 | entrezgene:pubmed | pubmed-article:17003357 | lld:entrezgene |
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