Source:http://linkedlifedata.com/resource/pubmed/id/16038107
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| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
6
|
| pubmed:dateCreated |
2005-7-25
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| pubmed:abstractText |
Antibodies against phospholipids (PL) and PL-binding proteins have been causally implicated in antiphospholipid syndrome (APS). Mutations in the fifth domain of the beta2-glycoprotein I (beta2GPI) protein, a putative PL-binding site, may play a critical role in APS pathogenesis. The purpose of this study was to identify associations between beta2GPI mutations and both antiphospholipid antibodies (aPL) and their associated clinical manifestations in a pediatric and adolescent cohort and to search for novel mutations. Genetic analysis of beta2GPI was performed in 58 youths with systemic lupus erythematosus (SLE) and/or aPL, to identify known polymorphisms at amino acids 247 and 306 as well as novel mutations in exon 7 of the beta2GPI gene, and their association with aPL-associated clinical manifestations. Our results demonstrate an association between substitution of Val for Leu at AA247 (L247V) of beta2GPI and both the development of aPL (P = 0.05) and aPL-associated clinical manifestations (P = 0.03) among pediatric patients. The odds ratio associated with risk of aPL-associated clinical manifestations for the homozygous VV polymorphism was 5.5 (CI 1.3-23, P = 0.03) for the overall cohort, and 4.75 (CI 0.66-55.49, P = 0.06) after adjusting for ethnicity. The association was not significant after stratifying for SLE versus non-SLE. Association between the VV genotype at amino acid 247 of beta2GPI and clinical disease supports a genetic cause for APS among children and adolescents. Neither novel exon 7 beta2GPI mutations or the previously described C306G polymorphism was identified in this pediatric cohort.
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| pubmed:grant | |
| pubmed:language |
eng
|
| pubmed:journal | |
| pubmed:citationSubset |
IM
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| pubmed:chemical | |
| pubmed:status |
MEDLINE
|
| pubmed:issn |
0961-2033
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| pubmed:author | |
| pubmed:issnType |
Print
|
| pubmed:volume |
14
|
| pubmed:owner |
NLM
|
| pubmed:authorsComplete |
Y
|
| pubmed:pagination |
440-4
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| pubmed:dateRevised |
2007-11-14
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| pubmed:meshHeading |
pubmed-meshheading:16038107-Adolescent,
pubmed-meshheading:16038107-Adult,
pubmed-meshheading:16038107-Alleles,
pubmed-meshheading:16038107-Amino Acid Substitution,
pubmed-meshheading:16038107-Antibodies, Antiphospholipid,
pubmed-meshheading:16038107-Antiphospholipid Syndrome,
pubmed-meshheading:16038107-Base Sequence,
pubmed-meshheading:16038107-Child,
pubmed-meshheading:16038107-Child, Preschool,
pubmed-meshheading:16038107-Cohort Studies,
pubmed-meshheading:16038107-DNA, Complementary,
pubmed-meshheading:16038107-Female,
pubmed-meshheading:16038107-Glycoproteins,
pubmed-meshheading:16038107-Humans,
pubmed-meshheading:16038107-Lupus Erythematosus, Systemic,
pubmed-meshheading:16038107-Male,
pubmed-meshheading:16038107-Polymorphism, Genetic,
pubmed-meshheading:16038107-beta 2-Glycoprotein I
|
| pubmed:year |
2005
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| pubmed:articleTitle |
Association between beta2-glycoprotein I gene polymorphisms and pediatric SLE and antiphospholipid antibodies.
|
| pubmed:affiliation |
Pediatric Rheumatology, University of California, San Francisco, CA 94143, USA. evonsche@peds.ucsf.edu
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| pubmed:publicationType |
Journal Article,
Research Support, U.S. Gov't, P.H.S.,
Research Support, Non-U.S. Gov't,
Research Support, N.I.H., Extramural
|