Failure to find evidence for deletion of LCE3C and LCE3B genes at PSORS4 contributing to psoriasis susceptibility in Tunisian families

Ammar, M.; Bouchlaka-Souissi, C.; Soumaya, K.; Bouhaha, R.; Ines, Z.; Bouazizi, Fatma; Doss, N.; Dhaoui, Raouf; Osman, A. Ben; Gaaïed, Amel Ben Ammar-El; Mokni, M.; Marrakchi, Rim

doi:10.1016/j.patbio.2013.10.003

Cited by 9 publications

(5 citation statements)

References 22 publications

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“…Several reports suggested combined effect of HLA-Cw6 with LCE3 genes 41 48 . In contrary, population specific differences are also observed 41 43 50 . This suggests the importance of examining genetic risk factors in multiple populations.…”

Section: Discussionmentioning

confidence: 89%

Increased Risk of Psoriasis due to combined effect of HLA-Cw6 and LCE3 risk alleles in Indian population

Chandra

Lahiri

Senapati³

et al. 2016

Sci Rep

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HLA-Cw6 is one of the most associated alleles in psoriasis. Recently, Late Cornified Envelop 3 (LCE3) genes were identified as a susceptibility factor for psoriasis. Some population showed epistatic interaction of LCE3 risk variants with HLA-Cw6, while some population failed to show any association. We determined the associations of a 32.2 kb deletion comprising LCE3C-3B genes and three SNPs (rs1886734, rs4112788; rs7516108) at the LCE3 gene cluster among the psoriasis patients in India. All three SNPs at the LCE3 gene cluster failed to show any association. In contrary, for patients with HLA-Cw6 allele, all three SNPs and the LCE3C-3B deletion showed significant associations. While, all five LCE3 genes were upregulated in psoriatic skin, only LCE3A showed significant overexpression with homozygous risk genotype compared to the non-risk genotype. LCE3B also showed significant overexpression in patients with HLA-Cw6 allele. Moreover, LCE3A showed significantly higher expression in patients bearing homozygous risk genotype in presence of HLA-Cw6 allele but not in those having non-risk genotype, demonstrating the combined effect of HLA-Cw6 allele and risk associated genotype near LCE3A gene. Integration of genetic and gene expression data thus allowed us to identify the actual disease variants at the LCE3 cluster among the psoriasis patients in India.

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Section: Discussionmentioning

confidence: 89%

Increased Risk of Psoriasis due to combined effect of HLA-Cw6 and LCE3 risk alleles in Indian population

Chandra

Lahiri

Senapati³

et al. 2016

Sci Rep

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“…A small study in North African population failed to detect any evidence of an association between LCE3C_LCE3B-del and psoriasis. [ 30 ]…”

Section: Discussionmentioning

confidence: 99%

Feasibility of establishing deletion of the late cornified envelope genes LCE3B and LCE3C as a susceptibility factor for psoriasis

Bashir¹,

Hassan²,

Majid³

et al. 2016

Adv Biomed Res

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Background:Psoriasis is a chronic hyperproliferative inflammatory disease of the skin, genetic predisposition to which is well-established. The late cornified envelope genes LCE3B and LCE3C are involved in maintaining the integrity of skin barrier especially following skin barrier disruption. The deletion of these genes would lead to an impaired epidermal response following damage to the skin barrier thus predisposing to psoriatic lesions. This study aimed to evaluate the common deletion of late cornified envelope genes (LCE 3B/3C) in psoriasis patients of Kashmiri ethnic population of North India.Materials and Methods:It was a hospital-based, case-control study which included 100 psoriasis cases and an equal number of controls. Blood samples were obtained, and DNA was extracted from all the samples by a kit-based method. To determine the LCE3C_LCE3B-del genotype, a three-primer polymerase chain reaction assay was performed.Results:The genotype for the common LCE3C_LCE3B deletion in 100 psoriasis patients and 100 controls was determined. Among the cases, 17 cases were homozygous for insertion genotype (I/I), 40 cases were heterozygous for insertion/deletion genotype (I/D) and 43 cases were homozygous for deletion genotype (D/D), compared to controls where 20 cases were homozygous for insertion genotype (I/I), 45 cases were heterozygous for insertion/deletion genotype (I/D), and 35 cases were homozygous for deletion genotype (D/D). The del/del frequency was higher among psoriatic patients compared to controls (43% vs. 35%) although the difference was not statistically significant (P = 0.507).Conclusion:We hereby infer that LCE3C_LCE3B deletion does not appear to be associated with the risk of psoriasis in our population.

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“…IL-36RA (interleukin-36 receptor antagonist) is a product of IL-36RN, which downregulates both interleukin-1α and interleukin-1β. 5 …”

Section: Discussionmentioning

confidence: 99%

Failure to find evidence for deletion of LCE3C and LCE3B genes at PSORS4 contributing to psoriasis susceptibility in Tunisian families

Cited by 9 publications

References 22 publications

Increased Risk of Psoriasis due to combined effect of HLA-Cw6 and LCE3 risk alleles in Indian population

Increased Risk of Psoriasis due to combined effect of HLA-Cw6 and LCE3 risk alleles in Indian population

Feasibility of establishing deletion of the late cornified envelope genes LCE3B and LCE3C as a susceptibility factor for psoriasis

Generalized pustular psoriasis with a novel mutation of interleukin-36 receptor antagonist, responding to methotrexate

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