Region 1p13.2 including the <i>RSBN1, PTPN22, AP4B1</i> and long non‐coding RNA genes does not bear risk factors for endemic pemphigus foliaceus (<i>fogo selvagem</i>)

Lobo‐Alves, Sara Cristina; Oliveira, Liana Alves de; Petzl‐Erler, Maria Luiza

doi:10.1111/iji.12423

Cited by 1 publication

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“…No significant association was found. Allele rs2476601 T was observed at the frequency of about 14% in both the patient and control samples (Lobo-Alves et al, 2019a). So, variants in structural and regulatory sites of PTPN22 and its flanking regions are not susceptibility factors for pemphigus, and it seems settled that the genetic variation of LYP has no impact on pemphigus disease susceptibility.…”

Section: Lack Of Association With Some Remarkable Candidatesmentioning

confidence: 96%

Beyond the HLA polymorphism: A complex pattern of genetic susceptibility to pemphigus

Petzl-Erler

2020

Genet. Mol. Biol.

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Pemphigus is a group of autoimmune bullous skin diseases that result in significant morbidity. As for other multifactorial autoimmune disorders, environmental factors may trigger the disease in genetically susceptible individuals. The goals of this review are to summarize the state of knowledge about the genetic variation that may affect the susceptibility and pathogenesis of pemphigus vulgaris and pemphigus foliaceus-both the endemic and the sporadic forms-, to compare and discuss the possible meaning of the associations reported, and to propose recommendations for new research initiatives. Understanding how genetic variants translate into pathogenic mechanisms and phenotypes remains a mystery for most of the polymorphisms that contribute to disease susceptibility. However, genetic studies provide a strong foundation for further developments in this field by generating testable hypotheses. Currently, results still have limited influence on disease prevention and prognosis, drug development, and clinical practice, although the perspectives for future applications for the benefit of patients are encouraging. Recommendations for the continued advancement of our understanding as to the impact of genetic variation on pemphigus include these partially overlapping goals: (1) Querying the functional effect of genetic variants on the regulation of gene expression through their impact on the nucleotide sequence of cis regulatory DNA elements such as promoters and enhancers, the splicing of RNA, the structure of regulatory RNAs and proteins, binding of these regulatory molecules to regulatory DNA elements, and alteration of epigenetic marks; (2) identifying key cell types and cell states that are implicated in pemphigus pathogenesis and explore their functional genomes; (3) integrating structural and functional genomics data; (4) performing disease-progression longitudinal studies to disclose the causal relationships between genetic and epigenetic variation and intermediate disease phenotypes; (5) understanding the influence of genetic and epigenetic variation in the response to treatment and the severity of the disease; (6) exploring gene-gene and genotype-environment interactions; (7) developing improved pemphigus-prone and non-prone animal models that are appropriate for research about the mechanisms that link genotypes to pemphigus. Achieving these goals will demand larger samples of patients and controls and multisite collaborations.

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Section: Lack Of Association With Some Remarkable Candidatesmentioning

confidence: 96%