Source:http://linkedlifedata.com/resource/pubmed/id/19082910
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| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
2
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| pubmed:dateCreated |
2009-2-2
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| pubmed:abstractText |
Osteoporosis is a common age-related disease with a strong genetic influence. COLIA1 is one of the most extensively studied candidate genes and has consistently been associated with BMD and fracture. We examined the effects of the polymorphisms -1997G>T, -1663indelT, and +1245G>T and their haplotypes on vertebral fractures and bone mineral density (BMD) in a case-control study comprising 462 osteoporotic patients and 336 controls. The -1663indelT polymorphism was associated with a decreased lumbar spine (ls) BMD, 0.75 +/- 0.14 g/cm(2), in individuals with the del/del genotype versus 0.83 +/- 0.18 and 0.85 +/- 0.18 g/cm(2) in individuals with the ins/del and ins/ins genotypes, respectively (p = 0.02). The T-allele of the +1245G>T polymorphism, which was in strong linkage disequilibrium (LD) with -1663indelT, was also associated with a decreased lsBMD (p = 0.02). -1997G>T was not significantly associated with lsBMD. The three most common haplotypes accounted for 98.5% of the alleles. Individuals with one or two copies of haplotype 1 (-1997G/-1663ins/+1245G) had a significantly higher lsBMD, 0.84 +/- 0.18 and 0.85 +/- 0.15 g/cm(2), respectively, versus 0.78 +/- 0.15 g/cm(2) in noncarriers (p = 0.01). Individuals with two copies of haplotype 2 (-1997G/-1663del/+1245T) had a significantly lower lsBMD, 0.76 +/- 0.14 g/cm(2), versus 0.85 +/- 0.18 and 0.82 +/- 0.18 g/cm(2), respectively, in individuals with zero or one copy (p = 0.03). The odds ratio for vertebral fracture in individuals carrying the variant T-allele of the -1997G>T polymorphism was 1.49 (CI, 1.03-2.16; p = 0.03). Logistic regression revealed that this effect was partly independent of BMD. In conclusion, the -1663del and +1245T alleles influence BMD negatively, whereas the -1997T-allele has a minor effect on BMD but increases the risk of vertebral fractures. These findings are in agreement with functional studies showing that these polymorphisms influence gene expression.
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| pubmed:language |
eng
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| pubmed:journal | |
| pubmed:citationSubset |
IM
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| pubmed:chemical | |
| pubmed:status |
MEDLINE
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| pubmed:month |
Feb
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| pubmed:issn |
1432-0827
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| pubmed:author | |
| pubmed:issnType |
Electronic
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| pubmed:volume |
84
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| pubmed:owner |
NLM
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| pubmed:authorsComplete |
Y
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| pubmed:pagination |
85-96
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| pubmed:meshHeading |
pubmed-meshheading:19082910-Biological Markers,
pubmed-meshheading:19082910-Bone Density,
pubmed-meshheading:19082910-Case-Control Studies,
pubmed-meshheading:19082910-Collagen Type I,
pubmed-meshheading:19082910-Fractures, Bone,
pubmed-meshheading:19082910-Genotype,
pubmed-meshheading:19082910-Haplotypes,
pubmed-meshheading:19082910-Humans,
pubmed-meshheading:19082910-Introns,
pubmed-meshheading:19082910-Linkage Disequilibrium,
pubmed-meshheading:19082910-Osteoporosis,
pubmed-meshheading:19082910-Polymorphism, Genetic,
pubmed-meshheading:19082910-Risk Factors
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| pubmed:year |
2009
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| pubmed:articleTitle |
Haplotypes of promoter and intron 1 polymorphisms in the COLIA1 gene are associated with increased risk of osteoporosis.
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| pubmed:affiliation |
Department of Endocrinology and Metabolism, Aarhus University Hospital, Tage-Hansens Gade 2, 8000 Aarhus C, Denmark.
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| pubmed:publicationType |
Journal Article
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