The impact of the <i><scp>CYP</scp>2D6</i> gene polymorphism on the risk of pemphigoid

Rychlik‐Sych, Mariola; Barańska, Małgorzata; Wojtczak, Andrzej; Skrętkowicz, Jadwiga; Żebrowska, Agnieszka; Waszczykowska, Elżbieta

doi:10.1111/ijd.12967

Cited by 18 publications

(9 citation statements)

References 22 publications

(26 reference statements)

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“…Like in MMP, there is also still a paucity in the identification of gene polymorphisms predisposing to BP. Susceptibility to BP has been associated with SNPs in IL1B , the gene for IL‐1β, in a Chinese cohort and in CYP2D6 , the gene for the cytochrome P450 oxidase 2D6, in a Polish cohort . In addition, copy number variations (CNVs) in the Fcγ receptor genes FCGR2B and FCGR3B as well as polymorphisms in the mitochondrial gene ATP8 have been associated with the risk for BP in a German cohort .…”

Section: Discussionmentioning

confidence: 99%

Genomewide association study identifies GALC as susceptibility gene for mucous membrane pemphigoid

Sadik

Bischof

Beek

et al. 2017

Experimental Dermatology

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Mucous membrane pemphigoid (MMP) is a rare, chronic and often aggressive subepidermal autoimmune blistering disease potentially affecting several mucous membranes with blisters and secondary erosions and scars. The pathogenesis of MMP is poorly understood, and the contribution of genetic predispositions, other than HLA class II allele variants to MMP, is unknown. The objective of this study is to identify susceptibility genes for MMP in a British cohort of MMP patients. A GWAS was conducted in a British cohort of 106 MMP patients. Publicly available genotypes of 2900 blood donors of the UK Blood Service and of 6740 individuals of the 1958 British Birth Cohort served as control. Subsequently, putative susceptibility genes were independently replicated in a German cohort of 42 MMP patients. The GWAS found 38 SNPs in 28 haploblocks with an odds ratio >2 reaching genomewide significance (P < 5.7 × 10 ). Replication confirmed an association of MMP with SNPs in rs17203398 (OR: 3.9), located intronically in the β-galactocerebrosidase gene (GALC) on chromosome 14 and with recessive polymorphisms in rs9936045 (OR: 3.1) in the intergenic region between CASC16 and CHD9 on chromosome 16. The risk of developing MMP is partially genetically determined. SNPs in GALC enhance the risk for MMP, indicating that β-galactocerebrosidase may be involved in the pathogenesis of MMP. Likewise, impacts of polymorphisms in the intergenic region between CASC16 and CHD9 on the activity of neighbouring genes may facilitate the emergence of MMP. The putative role of both polymorphisms requires functional studies in the future.

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Section: Discussionmentioning

confidence: 99%

Genomewide association study identifies GALC as susceptibility gene for mucous membrane pemphigoid

Sadik

Bischof

Beek

et al. 2017

Experimental Dermatology

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“…Studies for single nucleotide polymorphisms have been defined several psoriasis susceptibility genes ( 130 , 133 ) (Table 1 ) whereas it has been challenging to identify the susceptibility genes of pemphigus or pemphigoid diseases and there is much less information about their susceptibility genes. As for two major bullous diseases that can be associated with psoriasis, following genes are suggested to be associated with the disease susceptibility:, IL1B ( 135 ), CD16 ( 136 ), ATP8 ( 137 ), and CYP2D6 ( 138 ) in bullous pemphigoid; and CD40L, CD40, BLYS ( 139 ), CTLA4 ( 140 ), and CD59 ( 141 ) in pemphigus foliaceus. However, they are not included in the major psoriasis susceptibility genes except for the risk loci at IL1B in late onset psoriasis ( 142 ).…”

Section: Susceptibilities Of Psoriasis and Bullous Diseasesmentioning

confidence: 99%

Interaction of Psoriasis and Bullous Diseases

Dainichi

Kabashima

2018

Front. Med.

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Patients with psoriasis are frequently complicated with autoimmune bullous diseases, especially, pemphigoid diseases. It has been known that one-third cases of anti-laminin gamma1 pemphigoid, formerly anti-p200 pemphigoid, are associated with psoriasis whereas bullous pemphigoid is the most frequently associated bullous disease in psoriasis cases regardless of the lack of detectable levels of the accompanying anti-laminin gamma1 autoantibodies. Despite several suggestions, however, the definitive reason of the striking association of psoriasis and these autoimmune bullous diseases remains elusive. In this review, we look over the epidemiological evidence of the association of psoriasis and autoimmune bullous diseases and the information of genetic susceptibilities of each disease, and discuss the possible mechanisms of their complication with reference to the recent understandings of each pathogenesis.

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“…A German study showed that a polymorphism in the mitochondrially encoded ATP synthase 8 gene ( MT-ATP8 ) may have an association with BP pathogenesis, which suggests a contribution of mitochondrial abnormalities to BP immunopathology 44 . Furthermore, a recent study showed that gene polymorphism in CYP2D6 , which is among the cytochrome P450 isoenzymes, may influence the risk of drug-induced BP 45 . Dipeptidyl peptidase-IV (DPP-4) inhibitors have been increasingly implicated as a cause of drug-induced BP.…”

Section: Pemphigoidmentioning

confidence: 99%

Recent advances in the understanding and treatment of pemphigus and pemphigoid

Yamagami¹

2018

F1000Res

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Pemphigus and pemphigoid are characterized as autoimmune blistering diseases in which immunoglobulin G autoantibodies cause blisters and erosions of the skin or mucosa or both. Recently, understanding of the pathophysiology of pemphigus and pemphigoid has been furthered by genetic analyses, characterization of autoantibodies and autoreactive B cells, and elucidation of cell–cell adhesion between keratinocytes. For the management of pemphigus and pemphigoid, the administration of systemic corticosteroids still represents the standard treatment strategy; however, evidence of the efficacy of therapies not involving corticosteroids, such as those employing anti-CD20 antibodies, is increasing. The goal should be to develop antigen-specific immune suppression-based treatments.

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The impact of the CYP2D6 gene polymorphism on the risk of pemphigoid

Abstract: The study results may suggest the impact of CYP2D6 gene polymorphism (A2637 deletion) on a higher prevalence of bullous pemphigoid.

Cited by 18 publications

References 22 publications

Genomewide association study identifies GALC as susceptibility gene for mucous membrane pemphigoid

Genomewide association study identifies GALC as susceptibility gene for mucous membrane pemphigoid

Interaction of Psoriasis and Bullous Diseases

Recent advances in the understanding and treatment of pemphigus and pemphigoid

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