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1.
Exp Dermatol ; 30(6): 831-840, 2021 06.
Article in English | MEDLINE | ID: mdl-33394553

ABSTRACT

Pemphigus foliaceus (PF) is an autoimmune blistering disease of the skin, clinically characterized by erosions and, histopathologically, by acantholysis. PF is endemic in the Brazilian Central-Western region. Numerous single nucleotide polymorphisms (SNPs) have been shown to affect the susceptibility for PF, including SNPs at long non-coding RNA (lncRNA) genes, which are known to participate in many physiological and pathogenic processes, such as autoimmunity. Here, we investigated whether the genetic variation of immune-related lncRNA genes affects the risk for endemic and sporadic forms of PF. We analysed 692 novel SNPs for PF from 135 immune-related lncRNA genes in 227 endemic PF patients and 194 controls. The SNPs were genotyped by Illumina microarray and analysed by applying logistic regression at additive model, with correction for sex and population structure. Six associated SNPs were also evaluated in an independent German cohort of 76 sporadic PF patients and 150 controls. Further, we measured the expression levels of two associated lncRNA genes (LINC-PINT and LY86-AS1) by quantitative PCR, stratified by genotypes, in peripheral blood mononuclear cells of healthy subjects. We found 27 SNPs in 11 lncRNA genes associated with endemic PF (p < .05 without overlapping with protein-coding genes). Among them, the LINC-PINT SNP rs10228040*A (OR = 1.47, p = .012) was also associated with increased susceptibility for sporadic PF (OR = 2.28, p = .002). Moreover, the A+ carriers of LY86-AS1*rs12192707 mark lowest LY86-AS1 RNA levels, which might be associated with a decreasing autoimmune response. Our results suggest a critical role of lncRNA variants in immunopathogenesis of both PF endemic and sporadic forms.


Subject(s)
Antigens, Surface/genetics , Pemphigus/genetics , Polymorphism, Single Nucleotide/genetics , RNA, Long Noncoding/genetics , Antigens, Surface/immunology , Genetic Predisposition to Disease , Humans , Pemphigus/immunology , Polymorphism, Single Nucleotide/immunology , RNA, Long Noncoding/immunology
2.
Proteomics ; 19(17): e1900148, 2019 09.
Article in English | MEDLINE | ID: mdl-31168931

ABSTRACT

This dataset brief is about the descriptive proteome of Qualea grandiflora plants by label free mass spectrometry (LC-MS/MS). Q. grandiflora is a plant that accumulates aluminum (Al) in high quantities and requires it for growth and development. Although quite relevant for the understanding of Al effects on plants, the proteome of Q. grandiflora has not been studied yet. Therefore, the current proteome analysis identifies a total of 2010 proteins. Furthermore, the identified Q. grandiflora root proteins are associated with several crucial molecular functions, biological processes, and cellular sites. Hence, the proteome analysis of Q. grandiflora will contribute to unravel how plants evolved to cope with high levels of Al in soils. All data can be accessed at the Centre for Computational Mass Spectrometry - MassIVE MSV000082284 - https://massive.ucsd.edu/ProteoSAFe/dataset.jsp?task=adb9647282a5421a9cffe3124c060f46.


Subject(s)
Aluminum/pharmacology , Chromatography, Liquid/methods , Magnoliopsida/metabolism , Plant Proteins/metabolism , Plant Roots/metabolism , Proteome/analysis , Tandem Mass Spectrometry/methods , Magnoliopsida/drug effects , Plant Roots/drug effects , Proteome/drug effects , Proteome/metabolism
3.
HLA ; 93(2-3): 80-88, 2019 02.
Article in English | MEDLINE | ID: mdl-30740929

ABSTRACT

The human leukocyte antigen (HLA) are the most polymorphic genes in the human genome. Because of their importance for antigen recognition, HLA molecules play a central role in host defense and graft rejection upon transplantation. The aim of this study was to characterize allelic diversity of the classical HLA genes HLA-A, -B, -C, -DRA, -DRB1, -DQA1, -DQB1, -DPA1, -DPB1, and the non-classical class I genes HLA-E, -F and -G at high-resolution for a population of predominantly European ancestry from Curitiba, Brazil. Genotyping of 108 individuals was performed by next-generation sequencing on the MiSeq platform and also by Sanger sequencing. The genotype distributions of all loci were in accordance with Hardy-Weinberg equilibrium (P > 0.05) and a total of 202 HLA variants at second field resolution were observed for the 12 loci. The strongest linkage disequilibrium (r2 = 1.0, P < 10-5 ) was observed for the following pairs of alleles: HLA-B*42:01:01 ~ HLA-DRB1*03:02:01; HLA-B*14:02:01 ~ HLA-C*08:02:01; B*42:01:01 ~ HLA-C*17:01:01; HLA-DRB1*03:01:01 ~ HLA-DQB1*02:01:01 ~ DRB1*03:01:01 ~ HLA-DQB1*02:01:01; DRB1*13:01:01~ HLA-DQB1*06:03:01 and HLA-DRB1*09:01:02 ~ HLA-DQA1*03:02. This is the first study to characterize all 12 HLA genes at high resolution in a single population. On the basis of the allelic frequencies of worldwide populations and principal component analysis, we confirmed the similarity of the study population to European and other Euro-descendant populations.


Subject(s)
Genetic Loci , Histocompatibility Antigens Class I/genetics , Alleles , Brazil , Gene Frequency/genetics , Geography , Haplotypes/genetics , Humans , Linkage Disequilibrium/genetics , Principal Component Analysis
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