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• W3040674345 abstract "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." @default.
• W3040674345 created "2020-07-10" @default.
• W3040674345 creator A5076677236 @default.
• W3040674345 date "2020-01-01" @default.
• W3040674345 modified "2023-09-23" @default.
• W3040674345 title "Beyond the HLA polymorphism: A complex pattern of genetic susceptibility to pemphigus" @default.
• W3040674345 cites W1009820876 @default.
• W3040674345 cites W104643753 @default.
• W3040674345 cites W1482923163 @default.
• W3040674345 cites W1493998640 @default.
• W3040674345 cites W1498146886 @default.
• W3040674345 cites W1545201240 @default.
• W3040674345 cites W1552959904 @default.
• W3040674345 cites W1826234378 @default.
• W3040674345 cites W1859347062 @default.
• W3040674345 cites W1905845038 @default.
• W3040674345 cites W1941315533 @default.
• W3040674345 cites W1967404978 @default.
• W3040674345 cites W1967512391 @default.
• W3040674345 cites W1968118094 @default.
• W3040674345 cites W1968266616 @default.
• W3040674345 cites W1968900400 @default.
• W3040674345 cites W1972025674 @default.
• W3040674345 cites W1974179121 @default.
• W3040674345 cites W1979482663 @default.
• W3040674345 cites W1980195256 @default.
• W3040674345 cites W1980224565 @default.
• W3040674345 cites W1981416665 @default.
• W3040674345 cites W1983230950 @default.
• W3040674345 cites W1984791807 @default.
• W3040674345 cites W1986866707 @default.
• W3040674345 cites W1987361491 @default.
• W3040674345 cites W1987554775 @default.
• W3040674345 cites W1989641026 @default.
• W3040674345 cites W1993685285 @default.
• W3040674345 cites W1995738057 @default.
• W3040674345 cites W1998996879 @default.
• W3040674345 cites W1999716130 @default.
• W3040674345 cites W2000537415 @default.
• W3040674345 cites W2002948375 @default.
• W3040674345 cites W2003661326 @default.
• W3040674345 cites W2003979612 @default.
• W3040674345 cites W2005156689 @default.
• W3040674345 cites W2006603165 @default.
• W3040674345 cites W2013262316 @default.
• W3040674345 cites W2013842521 @default.
• W3040674345 cites W2013858748 @default.
• W3040674345 cites W2014849086 @default.
• W3040674345 cites W2016249920 @default.
• W3040674345 cites W2018969078 @default.
• W3040674345 cites W2020307110 @default.
• W3040674345 cites W2021249149 @default.
• W3040674345 cites W2022178469 @default.
• W3040674345 cites W2023007590 @default.
• W3040674345 cites W2023943037 @default.
• W3040674345 cites W2024181359 @default.
• W3040674345 cites W2026893575 @default.
• W3040674345 cites W2028820358 @default.
• W3040674345 cites W2032241108 @default.
• W3040674345 cites W2035407782 @default.
• W3040674345 cites W2035489462 @default.
• W3040674345 cites W2035712629 @default.
• W3040674345 cites W2036032819 @default.
• W3040674345 cites W2036913768 @default.
• W3040674345 cites W2044337817 @default.
• W3040674345 cites W2044596369 @default.
• W3040674345 cites W2044717587 @default.
• W3040674345 cites W2045115066 @default.
• W3040674345 cites W2045182193 @default.
• W3040674345 cites W2047112161 @default.
• W3040674345 cites W2048810850 @default.
• W3040674345 cites W2050662812 @default.
• W3040674345 cites W2052709855 @default.
• W3040674345 cites W2052803026 @default.
• W3040674345 cites W2054721460 @default.
• W3040674345 cites W2055338105 @default.
• W3040674345 cites W2057030367 @default.
• W3040674345 cites W2057054999 @default.
• W3040674345 cites W2063912380 @default.
• W3040674345 cites W2066762493 @default.
• W3040674345 cites W2070842905 @default.
• W3040674345 cites W2072584105 @default.
• W3040674345 cites W2072599553 @default.
• W3040674345 cites W2073762017 @default.
• W3040674345 cites W2073775962 @default.
• W3040674345 cites W2083438580 @default.
• W3040674345 cites W2085823794 @default.
• W3040674345 cites W2089022749 @default.
• W3040674345 cites W2089515210 @default.
• W3040674345 cites W2091510188 @default.
• W3040674345 cites W2094084130 @default.
• W3040674345 cites W2094175562 @default.
• W3040674345 cites W2098132847 @default.
• W3040674345 cites W2101992081 @default.
• W3040674345 cites W2102349888 @default.
• W3040674345 cites W2104769463 @default.
• W3040674345 cites W2106761092 @default.
• W3040674345 cites W2108512096 @default.
• W3040674345 cites W2114414367 @default.
• W3040674345 cites W2117784451 @default.

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