11 research outputs found
Aspectos genĂ©ticos e imunopatogĂȘnicos da doença celĂaca: visĂŁo atual
RACIONAL: A doença celĂaca ou enteropatia por sensibilidade ao glĂșten, Ă© uma forte condição hereditĂĄria. Embora a associação genĂ©tica da doença celĂaca com os haplĂłtipos HLA-DQ2 e DQ8 seja conhecida hĂĄ muito tempo, outros genes HLA e nĂŁo-HLA tambĂ©m sĂŁo importantes no desenvolvimento da afecção. A doença celĂaca resulta de um efeito combinado de produtos de diferentes genes funcionantes normalmente. A lesĂŁo intestinal Ă© imunologicamente mediada e mĂșltiplos mecanismos efetores sĂŁo responsĂĄveis pela sua expressĂŁo. A interação entre fatores genĂ©ticos, imunolĂłgicos e ambientais explicam o amplo espectro de alteraçÔes clĂnicas, histolĂłgicas e sorolĂłgicas observadas nos diferentes estĂĄgios de desenvolvimento da doença, ressaltando a natureza poligĂȘnica da mesma. CONCLUSĂO: Os avanços recentes na compreensĂŁo da imunopatogenia, genĂ©tica e diagnĂłstico da doença celĂaca tĂȘm permitido que rĂgidos conceitos e critĂ©rios prĂ©-estabelecidos sejam revistos e adequados Ă s novas evidĂȘncias, visando melhor diagnĂłstico e orientação para pacientes celĂacos e familiares
Haplotype frequencies (% ± standard deviation) in Brazilian leprosy patients and controls, and association with MASP-2 and MAp19 concentration and the disease (adjusted effect ± standard deviation).
<p>N: number of alleles; n.a.: not applicable; n.s.: not significant; #: corrected for MAp19 levels; &: not significant with the Fisherâs exact test. In the phylogenetic <i>MASP2</i> nomenclature, small capitalized âh,â âi,â or âlâ refer to âhighâ, âintermediateâ or âlowâ MASP-2 levels in serum, respectively <a href="http://www.plosone.org/article/info:doi/10.1371/journal.pone.0069054#pone.0069054-Boldt1" target="_blank">[12]</a>. Within brackets: rs2273344 (intron 4) and rs9430347 (intron 5) variant <i>in cis</i> combinations. In bold: significant differences.</p
MASP-2 and MAp19 levels in groups of exon 5 flanking <i>MASP2</i> genotypes in the Danish population.
<p>Data is shown with medians and interquartile ranges. One outlier (1198 ng/mL in the <i>AG/AG</i> group) was excluded for better visualization of MAp19 levels. Mann-Whitney P values were calculated between <i>AG/AG</i> and <i>AG/GA</i>, <i>AG/GA</i> and <i>GA/GA</i> groups. n.s.: not significant,* P<sub>Bf</sub>â=â0.03.</p
MASP-2 levels in Brazilian controls and leprosy patients.
<p>A) Differences between MASP-2 levels of patients and controls according to exon 5 flanking <i>MASP2</i> genotypes. Data is shown with medians and interquartile ranges, differences were calculated with Mann-Whitney tests (P<sub>Bf</sub>â=â0.02 between <i>AG/AG</i> and P<sub>Bf</sub>â=â0.1 between <i>AG/GA</i> groups). Pat: Patients; Co: controls; diamonds: genotypes with <i>p.126L</i> (<i>*1C1-l</i> and <i>*1C2-l</i>); closed circles: genotypes with <i>*2B1-i.</i> B) Differences between MASP-2 levels of lepromatous and non-lepromatous patients. Data is shown with means and standard error of the means; differences between groups were calculated with an unpaired t test. Diamonds: genotypes with <i>*1C2-l</i> and/or <i>*2A2-l</i> but without <i>*1B1-h</i> or <i>*1B2-h.</i></p
Minor allele frequencies (% ± standard deviation) in the Danish population, leprosy patients and controls, and association with MASP-2 and MAp19 concentration and the disease (adjusted effect ± standard deviation).
<p>In bold, italicized: minor allele. n.a.: not applicable; n.s.: not significant. N: number of alleles. In bold: significant differences. # corrected for MAp19 levels, &: not significant with the Fisherâs exact test.</p