High-resolution melting analysis to screen the ST18 gene functional risk variant for pemphigus vulgaris: The occasion to open a debate on its usefulness in clinical setting

Bonis, Maria De; Paolis, Elisa De; Scaglione, Giovanni Luca; Fania, Luca; Lavieri, Maria Michela; Mazzanti, Cinzia; Zenzo, Giovanni Di; Minucci, Angelo; Capoluongo, Ettore

doi:10.1016/j.yexmp.2019.03.009

Cited by 5 publications

(7 citation statements)

References 18 publications

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“…HRMA is highly suitable for the detection of single-base variants, deletions, or insertions [15][16][17]. In addition, HRMA offers several attractive advantages over other conventional gene scanning methods, such as no post-PCR processing steps, complete closed-tube format, and rapid turnaround time [18][19][20][21].…”

Section: Discussionmentioning

confidence: 99%

Duplex high resolution melting analysis (dHRMA) to detect two hot spot CYP24A1 pathogenic variants (PVs) associated to idiopathic infantile hypercalcemia (IIH)

et al. 2021

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Pathogenic variants (PVs) in CYP24A1 gene are associated with Idiopathic Infantile Hypercalcemia disease (IIH). The identification of CYP24A1 PVs can be a useful tool for the improvement of target therapeutic strategies. Aim of this study is to set up a rapid and inexpensive High Resolution Melting Analysis (HRMA)-based method for the simultaneous genotyping of two hot spot PVs in CYP24A1 gene, involved in IIH. A duplex-HRMA (dHRMA) was designed in order to detect simultaneously CYP24A1 c.428_430delAAG, p.(Glu143del) (rs777676129) and c.1186C > T, p.(Arg396Trp) (rs114368325), in peculiar cases addressed to our Laboratory. dHRMA was able to identify clearly and simultaneously both hot spot CYP24A1 PVs evaluating melting curve shape and melting temperature (Tm). This is the first dHRMA approach to rapidly screen the two most frequent CYP24A1 PVs in peculiar case, providing useful information for diagnosis and patient management in IIH disease.

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Section: Discussionmentioning

confidence: 99%

Duplex high resolution melting analysis (dHRMA) to detect two hot spot CYP24A1 pathogenic variants (PVs) associated to idiopathic infantile hypercalcemia (IIH)

et al. 2021

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“…Primers for the amplification and sequencing of the region surrounding the c.‐497‐65050T>C variant (rs17315309) were designed by Primer3 software (http://primer3.ut.ee/). 12 The resulting data were analyzed with SeqScape ® software version 3 and Sequencing Analysis Software version 6 (Thermo Fisher Scientific, Waltham, MA, USA).…”

Section: Methodsmentioning

confidence: 99%

“…8,10 The promoter region of ST18 harbors a PV-associated SNP, which increases the gene transcription and stimulates PV serum-induced acantholysis and secretion of key inflammatory molecules, suggesting a role for ST18 in PV pathogenesis. 11,12 In addition, familial pemphigus cases have infrequently been reported. 13 We report on two pairs of siblings affected by PV from two unrelated Italian families, and characterize their genetic background, such as the ST18 gene polymorphism and the HLA genotyping, and immunological profile, such as titers of anti-Dsg autoantibodies.…”

Section: Introductionmentioning

confidence: 99%

“…Although in Chinese and German populations no linkage between ST18 SNPs and PV was demonstrated, in Egyptian, Jewish and Iranian populations an association between SNPs of ST18 and PV was reported 8,10 . The promoter region of ST18 harbors a PV‐associated SNP, which increases the gene transcription and stimulates PV serum‐induced acantholysis and secretion of key inflammatory molecules, suggesting a role for ST18 in PV pathogenesis 11,12 . In addition, familial pemphigus cases have infrequently been reported 13 …”

Section: Introductionmentioning

confidence: 99%

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Pemphigus vulgaris in two pairs of siblings from two unrelated Italian families: Human leukocyte antigen genotypes, ST18 mutation and immunological profile

Fania

Moro

Paolis

et al. 2020

The Journal of Dermatology

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Pemphigus vulgaris (PV) is an autoimmune intraepithelial bullous disease. Associations with the class II human leukocyte antigen (HLA) alleles and pemphigus vulgaris have been described. Furthermore, an association between the single nucleotide polymorphism of the ST18 gene and pemphigus vulgaris has been reported. We report two pairs of siblings from two unrelated Italian families affected by pemphigus vulgaris, characterizing their genetic and immunological profile. In order to assess the genetic background, HLA‐DQA1, HLA‐DQB1, HLA‐DRB1 and a relevant ST18 polymorphism were investigated. As for the immunological profiles, anti‐desmoglein antibodies were analyzed. In family A, the two pemphigus vulgaris patients had the same HLA genetic profile: HLA‐DQA1 *01:04/*03:01, HLA‐DQB1 *03:02/*05:03 and HLA‐DRB1 *04:02/*14:01. The male patient was heterozygous for the ST18 mutation while the female patient had a wild genotype. In family B, the two pemphigus vulgaris patients were both wild type for the ST18 mutation and showed the same HLA genotype: HLA‐DQA1 *03:01/*05:08, HLA‐DQB1 *03:01/*03:03 and HLA‐DRB1 *04:02/*11:01. Our data show a relevant relationship between the HLA profile and pemphigus vulgaris in our Italian families. In family A, all six alleles are frequently associated with pemphigus vulgaris and were expressed only in the two pemphigus patients; and in family B, two of the six alleles are frequently associated with pemphigus vulgaris. No relevant relationship was found between ST18 polymorphism and pemphigus disease.

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“…Genetic variants of the cytokine genes TNF-α, IL-6 and IL-10 gene have also been linked with PV (Torzecka et al, 2003;Pereira et al, 2004;Eberhard et al, 2005;Mosaad et al, 2012;Toumi et al, 2013;Dar et al, 2016;Vodo et al, 2016); as have those affecting the TAP2 gene, which encodes a protein involved in peptide assembly and transport to HLA class I (Niizeki et al, 2004;Slomov et al, 2005). Immune-associated SNPs that have been linked with pemphigus include those within the ST18 gene, which encodes a transcription factor involved in inflammation and apoptosis (Sarig et al, 2012;Vodo et al, 2016;Etesami et al, 2018;De Bonis et al, 2019;Radeva et al, 2019;Assaf et al, 2021); and those within the CTLA4 and CD86 genes, whose protein products are expressed on antigen-presenting cells (APC) and are involved in activating T-cells and stimulating IgG production by B cells (Dalla- Costa et al, 2010;Tanasilovic et al, 2017).…”

Section: Genetic Risk Factorsmentioning

confidence: 99%

Autoimmune Pemphigus: Latest Advances and Emerging Therapies

Lim

Bohelay

Hanakawa

et al. 2022

Front. Mol. Biosci.

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Pemphigus represents a group of rare and severe autoimmune intra-epidermal blistering diseases affecting the skin and mucous membranes. These painful and debilitating diseases are driven by the production of autoantibodies that are mainly directed against the desmosomal adhesion proteins, desmoglein 3 (Dsg3) and desmoglein 1 (Dsg1). The search to define underlying triggers for anti-Dsg-antibody production has revealed genetic, environmental, and possible vaccine-driven factors, but our knowledge of the processes underlying disease initiation and pathology remains incomplete. Recent studies point to an important role of T cells in supporting auto-antibody production; yet the involvement of the myeloid compartment remains unexplored. Clinical management of pemphigus is beginning to move away from broad-spectrum immunosuppression and towards B-cell-targeted therapies, which reduce many patients’ symptoms but can have significant side effects. Here, we review the latest developments in our understanding of the predisposing factors/conditions of pemphigus, the underlying pathogenic mechanisms, and new and emerging therapies to treat these devastating diseases.

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High-resolution melting analysis to screen the ST18 gene functional risk variant for pemphigus vulgaris: The occasion to open a debate on its usefulness in clinical setting

Cited by 5 publications

References 18 publications

Duplex high resolution melting analysis (dHRMA) to detect two hot spot CYP24A1 pathogenic variants (PVs) associated to idiopathic infantile hypercalcemia (IIH)

Duplex high resolution melting analysis (dHRMA) to detect two hot spot CYP24A1 pathogenic variants (PVs) associated to idiopathic infantile hypercalcemia (IIH)

Pemphigus vulgaris in two pairs of siblings from two unrelated Italian families: Human leukocyte antigen genotypes, ST18 mutation and immunological profile

Autoimmune Pemphigus: Latest Advances and Emerging Therapies

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