Source:http://linkedlifedata.com/resource/pubmed/id/11916943
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| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
4
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| pubmed:dateCreated |
2002-3-27
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| pubmed:abstractText |
A polymorphism in the ecto-nucleotide pyrophosphatase/phosphodiesterase 1 gene (ENPP1) (previously known as PC-1), resulting in an amino acid change from lysine to glutamine at codon 121 (K121Q), is associated with insulin resistance. A small follow-up study of patients with type 1 diabetes and proteinuria found that renal function declines more rapidly in carriers of the Q variant than in noncarriers. To examine this finding further, we conducted a large case-control study and a family-based study. Genomic DNA was obtained from 659 patients: 307 with normal urinary albumin excretion despite diabetes duration of >15 years (control subjects) and 352 with advanced diabetic nephropathy, of whom 200 had persistent proteinuria and 152 had end-stage renal disease (ESRD). Individuals were genotyped for Q and K variants using a previously described protocol. The frequency of Q variant carriers was 21.5% in control subjects, 31.5% in subjects with proteinuria, and 32.2% in subjects with ESRD (P = 0.012). In a stratified analysis according to duration of diabetes, the risk of early-onset ESRD for carriers of the Q variant was 2.3 times that for noncarriers (95% CI, 1.2-4.6). The Q variant was not associated with late-onset ESRD. Similar findings were obtained in a family-based study. We conclude that carriers of the Q variant of ENPP1 are at increased risk for developing ESRD early in the course of type 1 diabetes.
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| pubmed:grant | |
| pubmed:language |
eng
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| pubmed:journal | |
| pubmed:citationSubset |
AIM
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| pubmed:chemical | |
| pubmed:status |
MEDLINE
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| pubmed:month |
Apr
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| pubmed:issn |
0012-1797
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| pubmed:author | |
| pubmed:issnType |
Print
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| pubmed:volume |
51
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| pubmed:owner |
NLM
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| pubmed:authorsComplete |
Y
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| pubmed:pagination |
1188-93
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| pubmed:dateRevised |
2008-11-21
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| pubmed:meshHeading |
pubmed-meshheading:11916943-Adult,
pubmed-meshheading:11916943-Boston,
pubmed-meshheading:11916943-Diabetes Mellitus, Type 1,
pubmed-meshheading:11916943-Diabetic Nephropathies,
pubmed-meshheading:11916943-Disease Progression,
pubmed-meshheading:11916943-European Continental Ancestry Group,
pubmed-meshheading:11916943-Female,
pubmed-meshheading:11916943-Genetic Variation,
pubmed-meshheading:11916943-Genotype,
pubmed-meshheading:11916943-Heterozygote Detection,
pubmed-meshheading:11916943-Humans,
pubmed-meshheading:11916943-Kidney Failure, Chronic,
pubmed-meshheading:11916943-Male,
pubmed-meshheading:11916943-Middle Aged,
pubmed-meshheading:11916943-Phosphoric Diester Hydrolases,
pubmed-meshheading:11916943-Polymorphism, Genetic,
pubmed-meshheading:11916943-Proteinuria,
pubmed-meshheading:11916943-Pyrophosphatases,
pubmed-meshheading:11916943-Retrospective Studies
|
| pubmed:year |
2002
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| pubmed:articleTitle |
Polymorphism in ecto-nucleotide pyrophosphatase/phosphodiesterase 1 gene (ENPP1/PC-1) and early development of advanced diabetic nephropathy in type 1 diabetes.
|
| pubmed:affiliation |
Research Division, Joslin Diabetes Center, and the Department of Medicine, Harvard Medical School, Boston, Massachusetts.
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| pubmed:publicationType |
Journal Article,
Research Support, U.S. Gov't, P.H.S.,
Research Support, Non-U.S. Gov't
|