02839nas a2200385   4500000000100000008004100001260001300042653003300055653002600088653001100114653002500125653003800150653001100188653001100199653002100210653002100231653002800252653002800280653000900308653001600317653001900333653003000352653003600382100001700418700001900435700002100454700002100475700001100496700001600507245014700523300001100670490000800681520175000689022001402439       2010                            d  c2010 Oct10aAntibodies, Antiphospholipid10aBeta 2-Glycoprotein I10aBrazil10aCase-Control Studies10aEnzyme-Linked Immunosorbent Assay10aFemale10aHumans10aImmunoglobulin G10aImmunoglobulin M10aLeprosy, Multibacillary10aLeprosy, Paucibacillary10aMale10aMiddle Aged10aPoint Mutation10apolymerase chain reaction10aPolymorphism, Single Nucleotide1 aBrochado MJF1 aFigueiredo JFC1 aMendes-Junior CT1 aLouzada-Junior P1 aKim OM1 aRoselino AM00aCorrelation between beta-2-glycoprotein I gene polymorphism and anti-beta-2 glycoprotein I antibodies in patients with multibacillary leprosy.  a583-910 v3023 a<p>Antiphospholipid antibodies, such as anti-beta2-glycoprotein I (beta2GPI), are present in multibacillary leprosy (MB) patients; however, MB patients do not usually present with antiphospholipid antibody syndrome (APS), which is characterized by thromboembolic phenomena (TEP). Rare cases of TEP occur in leprosy patients, but the physiopathology of this condition remains unclear. In this case-control study, we examined whether single-nucleotide polymorphisms (SNPs) of the beta2GPI gene contributed to the risk of leprosy and APS co-morbidity. SNPs Ser88Asn, Leu247Val, Cys306Gly and Trp316Ser were identified in 113 Brazilian leprosy patients. Additionally, anti-beta2GPI antibodies and plasma concentrations of beta2GPI were quantified. The Ser88Asn, Cys306Gly and Trp316Ser SNPs were not risk factors for APS in leprosy. A higher frequency of Val/Val homozygosity was observed in leprosy patients compared to controls (36 vs. 5%; P < 0.001). Forty-two percent of MB and 17% of paucibacillary leprosy patients were positive for anti-beta2GPI IgM (P = 0.014). There was no correlation between SNP Ser88Asn or Cys306Gly and anti-beta2GPI antibody levels. In MB patients with positive anti-beta2GPI IgM, the frequency of Val/Val homozygosity was higher than in controls (32 vs. 15%; P = 0.042). The frequency of the mutant allele Ser316 was higher in MB patients with positive rather than negative anti-beta2GPI IgM levels (6 vs. 0%; P = 0.040) and was greater than in the control group (6 vs. 1%; P = 0.034). The studied polymorphisms did not influence the plasma concentrations of beta2GPI. These results suggest that Leu247Val and Trp316Ser SNPs may represent genetic risk factors for anti-beta2GPI antibody production in MB patients.</p>  a1432-069X