Mutation analysis of the LCE3B/LCE3C genes in Psoriasis

BMC Medical Genetics

Research Article

Marta Díaz¹  Victoria Alvarez¹  Eliecer Coto²  Rubén Queiro³  Pablo Coto-Segura⁴  Javier Soto⁴  Jorge Santos-Juanes⁵ 

[1] Genética Molecular, Hospital Universitario Central Asturias-Servicio de Salud del Principado de Asturias, Oviedo, Spain;Genética Molecular, Hospital Universitario Central Asturias-Servicio de Salud del Principado de Asturias, Oviedo, Spain;Department of Medicine, University of Oviedo, Oviedo, Spain;Servicio de Reumatología, Hospital Universitario Central Asturias-Servicio de Salud del Principado de Asturias, Oviedo, Spain;Unidad Dermatología II, Hospital Universitario Central Asturias-Servicio de Salud del Principado de Asturias, Oviedo, Spain;Unidad Dermatología II, Hospital Universitario Central Asturias-Servicio de Salud del Principado de Asturias, Oviedo, Spain;Department of Medicine, University of Oviedo, Oviedo, Spain;

关键词: Psoriasis;    Psoriatic Arthritis;    Skin Barrier;    Polymerase Chain Reaction Fragment;    Denature High Performance Liquid Chromatography;   

DOI  :  10.1186/1471-2350-11-45

 received in 2009-09-23, accepted in 2010-03-23,  发布年份 2010

来源: Springer

【 摘 要 】

BackgroundAn association between a common deletion comprising the late cornified envelope LCE3B and LCE3C genes (LCE3C_LCE3B-del) and Psoriasis (Ps) has been reported. The expression of these LCE genes was induced after skin barrier disruption and was also strong in psoriatic lesions. The damage to the skin barrier could trigger an epidermal response that includes the expression of genes involved in the formation of skin barrier.MethodsWe determined the LCE3C_LCE3B-del genotype in 405 Ps patients and 400 healthy controls from a Northern Spain region (Asturias). These patients and controls were also genotyped for the rs4112788 single nucleotide polymorphism, in strong linkage disequilibrium with the LCE3C_B cluster. The LCE3B and LCE3C gene variant was determined in the patients through SSCA, DHPLC, and direct sequencing.ResultsAllele and genotype frequencies did not differ between patients and controls for the rs4112788 and LCE3C_LCE3B-del polymorphisms. However, del/del homozygotes were significantly higher among patients with chronic plaque type Ps who did not develop arthritis (p = 0.03; OR = 1.4; 95%CI = 1.03-1.92). The analysis of the coding sequence of LCE3B and LCE3C in the patients who had at least one copy of this showed that only one patient has a no previously reported LCE3B variant (R68C).ConclusionOur work suggested that homozygosity for a common LCE3C_LCE3B deletion contributes to the risk of developing chronic plaque type Ps without psoriatic arthritis. Our work confirmed previous reports that described an association of this marker with only skin manifestations, and supported the concept of different genetic risk factors contributing to skin and joint disease.

【 授权许可】

CC BY   
© Coto et al; licensee BioMed Central Ltd. 2010