Source:http://linkedlifedata.com/resource/pubmed/id/21113153
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| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
1
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| pubmed:dateCreated |
2011-1-10
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| pubmed:abstractText |
Hypospadias is a common congenital malformation of the male external genitalia. We performed a genome-wide association study using pooled DNA from 436 individuals with hypospadias (cases) and 494 controls of European descent and selected the highest ranked SNPs for individual genotyping in the discovery sample, an additional Dutch sample of 133 cases and their parents, and a Swedish series of 266 cases and 402 controls. Individual genotyping of two SNPs (rs1934179 and rs7063116) in DGKK, encoding diacylglycerol kinase ?, produced compelling evidence for association with hypospadias in the discovery sample (allele-specific odds ratio (OR) = 2.5, P = 2.5 × 10?¹¹ and OR = 2.3, P = 2.9 × 10??, respectively) and in the Dutch (OR = 3.9, P = 2.4 × 10?? and OR = 3.8, P = 3.4 × 10??) and Swedish (OR = 2.5, P = 2.6 × 10?? and OR = 2.2, P = 2.7 × 10??) replication samples. Expression studies showed expression of DGKK in preputial tissue of cases and controls, which was lower in carriers of the risk allele of rs1934179 (P = 0.047). We propose DGKK as a major risk gene for hypospadias.
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| pubmed:grant | |
| pubmed:commentsCorrections | |
| 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 |
Jan
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| pubmed:issn |
1546-1718
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| pubmed:author |
pubmed-author:Arias-VásquezAlejandroA,
pubmed-author:BaskinLaurence SLS,
pubmed-author:BongersErnie M H FEM,
pubmed-author:DondersA Rogier TAR,
pubmed-author:FeitzWout F JWF,
pubmed-author:FrankeBarbaraB,
pubmed-author:KiemeneyLambertus A L MLA,
pubmed-author:KnightJoJ,
pubmed-author:KnoersNine V A MNV,
pubmed-author:MarkljungEllenE,
pubmed-author:NordenskjöldAgnetaA,
pubmed-author:QiaoLiangL,
pubmed-author:RenkemaKirsten YKY,
pubmed-author:RoeleveldNelN,
pubmed-author:VeltmanJoris AJA,
pubmed-author:VermeulenSita H H MSH,
pubmed-author:ZhangXufengX,
pubmed-author:van RooijIris A L MIA,
pubmed-author:van der ZandenLoes F MLF
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| pubmed:issnType |
Electronic
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| pubmed:volume |
43
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| pubmed:owner |
NLM
|
| pubmed:authorsComplete |
Y
|
| pubmed:pagination |
48-50
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| pubmed:dateRevised |
2011-4-1
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| pubmed:meshHeading |
pubmed-meshheading:21113153-Diacylglycerol Kinase,
pubmed-meshheading:21113153-Genetic Predisposition to Disease,
pubmed-meshheading:21113153-Genetic Variation,
pubmed-meshheading:21113153-Genome-Wide Association Study,
pubmed-meshheading:21113153-Genotype,
pubmed-meshheading:21113153-Humans,
pubmed-meshheading:21113153-Hypospadias,
pubmed-meshheading:21113153-Male,
pubmed-meshheading:21113153-Odds Ratio,
pubmed-meshheading:21113153-Polymorphism, Single Nucleotide,
pubmed-meshheading:21113153-Risk Factors
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| pubmed:year |
2011
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| pubmed:articleTitle |
Common variants in DGKK are strongly associated with risk of hypospadias.
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| pubmed:affiliation |
Department of Epidemiology, Biostatistics and HTA, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.
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| pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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