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首页> 外文期刊>International journal of immunogenetics >Region 1p13.2 including the RSBN1, PTPN22, AP4B1 and long non-coding RNA genes does not bear risk factors for endemic pemphigus foliaceus (fogo selvagem)
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Region 1p13.2 including the RSBN1, PTPN22, AP4B1 and long non-coding RNA genes does not bear risk factors for endemic pemphigus foliaceus (fogo selvagem)

机译：包括RSBN1，PTPN22，AP4B1和长期非编码RNA基因的区域1P13.2不承受人群Pemphigus foliaceus（Fogo Selvagem）的风险因素

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Pemphigus foliaceus (PF) is an autoimmune skin disease characterized by autoantibodies directed mainly against desmoglein-1. The purpose of this study was to determine whether differential susceptibility to endemic PF in Brazil (fogo selvagem) is associated with polymorphisms at the cytogenetic location 1p13.2. Four single nucleotide polymorphisms that together tag 28 SNPs on a segment of approximately 312,000 bp encompassing the protein-coding genes MAGI3, PHTF1, RSBN1, PTPN22, BCL2L15, AP4B1, DCLRE1B, the pseudogenes MTND5P20, RPS2P14 (AL133517.1) and the long non-coding RNA genes AL137856.1, and AP4B1-AS1 were used as markers for association analysis in a case-control study. Allele, genotype and haplotype frequencies of rs33996649, rs2476601, rs3789604 and rs3195954 were compared between patient and control samples. No significant association was found. Lack of association with rs2476601 of the PTPN22 gene agrees with previous results for pemphigus vulgaris and the Tunisian form of endemic pemphigus foliaceus. The other three SNPs had never been analysed before in any form of pemphigus. We conclude that variants in structural and regulatory sites of region 1p13.2 are not susceptibility factors for fogo selvagem. We suggest careful investigation of this genomic region in diseases that had been previously associated with PTPN22, since there are several other genes relevant for immune-mediated diseases located in 1p13.2.
机译：Pemphigus foliaceus（PF）是一种自身免疫性皮肤病，其特征在于主要针对Desmoglein-1的自身抗体。本研究的目的是确定巴西（FOGO SELVAGEM）在巴西特有PF的差异敏感性是否与细胞遗传学定位1P13.2的多态性相关。四种单核苷酸多态性，在约312,000bp的区段中，在包含蛋白质编码基因的区段中，将标签28 snps一起包含蛋白质编码基因，pHTF1，RSBN1，PTPN22，BCL2L15，AP4B1，DCLRE1B，Pseudogenes MTND5P20，RPS2P14（AL133517.1）和长非用于CODRNA基因AL137856.1，AP4B1-AS1作为结合分析在病例对照研究中的标志物。在患者和对照样品之间比较了RS33996649，RS2476601，RS3789604和RS3195954的等位基因，基因型和单倍型频率。发现没有明显的关联。与PTPN22基因的RS2476601缺乏关联同意以前的寻常症和突尼斯的特有的Pemphigus Foliaceus的结果。除了以任何形式的Pemphigus之前从未分析过其他三个SNP。我们得出结论，1P13.2区域的结构和调节部位中的变体不是Fogo Selvagem的易感因素。我们建议仔细研究先前与PTPN22相关的疾病的这种基因组区域，因为有几种与位于1P13.2中的免疫介导的疾病相关的其他基因。

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