Source:http://linkedlifedata.com/resource/pubmed/id/19460328
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| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
4
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| pubmed:dateCreated |
2009-5-22
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| pubmed:abstractText |
Leprosy is an infectious disease caused by Mycobacterium leprae. The peptide human beta-defensin 1 is an antimicrobial effector of innate epithelial immunity. A study was done on the association of three single nucleotide polymorphisms (SNPs) in the beta-defensin 1 gene (DEFB1) - 668 C/G (-44 C/G or rs1800972; in 5' UTR), 692 A/G (-20 A/G or rs11362; in 5' UTR) and A1836G (rs1800971; in 3' UTR) - with leprosy susceptibility per se and clinical leprosy variants. The SNPs were genotyped by real-time polymerase chain reaction (rt-PCR) and PCR-restriction fragment length polymorphisms. Subjects were of Mexican mestizo ethnicity from Sinaloa state, México. Analysis was done on borderline leprosy, lepromatous leprosy (L-lep) and indeterminate leprosy subgroups compared with healthy controls. Results: The genotypes associated with L-lep and no other leprosy subgroup after Bonferroni correction were those that contain 668C in a dominant model (OR=3.06, 95% CI 1.47-6.4, p=0.024). Estimated haplotype CGA is over-represented in L-lep (p=0.009; OR=2.25, 1.23-4.03). Five NF-kappaB1 putative binding sites (NPBSs) were identified with JASPAR software in non-coding strand spanning the 5' UTR and intron 1 of DEFB1, including one which is altered when SNP 668C is present. SNP 668C probably abrogates NF-kappaB-dependent DEFB1 upregulation leading to L-lep variant.
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| 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 |
Jul
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| pubmed:issn |
1567-7257
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| pubmed:author | |
| pubmed:issnType |
Electronic
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| pubmed:volume |
9
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| pubmed:owner |
NLM
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| pubmed:authorsComplete |
Y
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| pubmed:pagination |
617-25
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| pubmed:dateRevised |
2009-11-27
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| pubmed:meshHeading |
pubmed-meshheading:19460328-Base Sequence,
pubmed-meshheading:19460328-Binding Sites,
pubmed-meshheading:19460328-Chi-Square Distribution,
pubmed-meshheading:19460328-Genetic Predisposition to Disease,
pubmed-meshheading:19460328-Haplotypes,
pubmed-meshheading:19460328-Humans,
pubmed-meshheading:19460328-Leprosy, Lepromatous,
pubmed-meshheading:19460328-Linkage Disequilibrium,
pubmed-meshheading:19460328-Mexico,
pubmed-meshheading:19460328-Models, Genetic,
pubmed-meshheading:19460328-Molecular Sequence Data,
pubmed-meshheading:19460328-NF-kappa B,
pubmed-meshheading:19460328-Polymorphism, Restriction Fragment Length,
pubmed-meshheading:19460328-Polymorphism, Single Nucleotide,
pubmed-meshheading:19460328-Protein Binding,
pubmed-meshheading:19460328-Reverse Transcriptase Polymerase Chain Reaction,
pubmed-meshheading:19460328-beta-Defensins
|
| pubmed:year |
2009
|
| pubmed:articleTitle |
SNP 668C (-44) alters a NF-kappaB1 putative binding site in non-coding strand of human beta-defensin 1 (DEFB1) and is associated with lepromatous leprosy.
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| pubmed:affiliation |
Guadalajara University, Guadalajara, Jalisco, Mexico. eprado@ciatej.net.mx
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| pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
|