Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UNIPROT:P02749 (beta2-glycoprotein I)
 836 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

In this study, we describe a two-allelic RsaI restriction fragment length polymorphism identified by Southern blot analysis and by allele-specific polymerase chain reaction amplification for the human beta 2-glycoprotein I (beta 2-I; apolipoprotein H = APOH) gene. This polymorphism, which segregates in a co-dominant fashion, leads to a valine-leucine amino acid exchange at amino acid position 247. The allele frequency has been established in 34 unrelated parents of the Centre d'Etude du Polymorphisme Humain family panel and was found to be 0.76 for valine and 0.23 for leucine. The Val-Leu polymorphism described in this study does not correlate with the four isoelectric focusing alleles previously described, indicating that other variants are responsible for this polymorphism.
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PMID:Human beta 2-glycoprotein I: molecular analysis of DNA and amino acid polymorphism. 809 61

The mechanisms of thrombosis in antiphospholipid syndrome (APS) are highly heterogeneous and multifactorial, and some genetic factors may be involved in its pathophysiology. The genetic variants of representative antigen, beta 2-glycoprotein I (beta 2GPI), have been known, and valine/leucine247 polymorphism is a genetic risk for having anti beta 2GPI antibodies and APS. Congenital beta 2GPI deficiency did not correlate with thrombophilia, thus its responsible gene (beta 2GPI-Sapporo) was not a risk for thrombosis. Many other thrombosis-related genetic factors have been investigated in APS, but no additional risk for thrombosis has been indicated in patients with antiphospholipid antibodies.
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PMID:Genetics of antiphospholipid syndrome. 1153 60

In antiphospholipid syndrome (APS) the presence of anti-beta2-glycoprotein I (beta2GPI) antibodies is strongly associated with thromboembolic complications. It has been suggested that the common beta2GPI Valine/Leucine247 (Val/Leu247) polymorphism could be found more commonly in APS and might influence the generation of anti-beta2GPI antibodies. Therefore we studied beta2GPI Val/Leu247 single-nucleotide polymorphism (SNP) by PCR in 338 patients with various autoimmune diseases (46 with secondary and 84 with primary APS) and 147 sex and age-matched healthy controls. In all patients lupus anticoagulant, anticardiolipin and anti-beta2GPI antibodies (both IgG and IgM) were also determined. All patients and controls were Caucasians. Frequencies of the SNP genotypes in patients did not depart from genetic equilibrum and did not differ from those found in controls. There was also no association between the presence of beta2GPI Val/Leu247genotypes and the presence or absence of lupus anticoagulant, anticardiolipin antibodies, anti-beta2GPI antibodies or clinical APS symptoms in all patients studied. In conclusion, among the exclusively Caucasian, Polish population of autoimmune patients beta2GPI Val/Leu247SNP has the same distribution as in healthy subjects and does not influence the production of anti-beta2GPI antibodies.
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PMID:Valine/Leucine247 polymorphism of beta2-glycoprotein I in patients with antiphospholipid syndrome: lack of association with anti-beta2-glycoprotein I antibodies. 1668 61