ABSTRACT
BACKGROUND: Hereditary factors are involved in the pathogenesis of atopic dermatitis (AD). However, AD-related gene variations are significantly different across ethnicities. AIM: To identify mutations and single-nucleotide polymorphisms (SNPs) in barrier- or immune-related genes from Korean patients with AD and compare the variations with those observed in nonatopic healthy controls (HCs), and to use novel reverse blot hybridization assay (REBA) for AD-related gene variants. METHODS: We carried out REBA to simultaneously detect variations in genes related to barrier or immune function, namely, FLG, SPINK5, KLK7, DEFB1, TNFα, KDR, FCER1A, IL4, IL5,IL5RA, IL9, IL10, IL12, IL12R, IL13 and IL18, from Korean patients with AD, and compared the variation to that in nonatopic healthy controls. RESULTS: The homozygous mutants of KLK7 and SPINK5-2475, and the heterozygous mutants of FLG 3321delA, SPINK5-1156, DEFB1, KDR, IL5RA, IL9 and IL12RB1 were significantly more frequent in AD. It has been predicted that the larger the number of gene variants, the higher the odds ratio of AD prevalence; however, we did not find any significant correlation between the number of gene variants and AD severity. CONCLUSION: Using REBA, we identified more genetic variants that can predict AD occurrence. We also verified that REBA can be used to easily and accurately detect multiple AD-related gene variants simultaneously. In addition, we identified a correlation between KLK7 mutation and AD in Koreans, which is the first such report, to our knowledge.
Subject(s)
Dermatitis, Atopic/genetics , Polymorphism, Single Nucleotide , Adolescent , Adult , Analysis of Variance , Case-Control Studies , Child , Child, Preschool , Dermatitis, Atopic/immunology , Female , Filaggrin Proteins , Gene Frequency , Genetic Predisposition to Disease/genetics , Genotype , Humans , Hybridization, Genetic , Interleukins/genetics , Korea , Male , Middle Aged , Mutation , Receptor, Fibroblast Growth Factor, Type 1/genetics , Serine Peptidase Inhibitor Kazal-Type 5/genetics , Vascular Endothelial Growth Factor Receptor-2/genetics , Young AdultABSTRACT
Recent reviews stressing the existence of synchronous and metachronous noncarcinoid neoplastic lesions in the same segment of an organ stimulated a review of experience with simultaneous small-bowel carcinoids and colonic carcinoma. Four cases of colonic malignancy associated with small-bowel carcinoid are presented. Included are cases with multiple carcinoids and concurrent multiple carcinomas; two metachronous carcinomas with subsequent ileal carcinoids, and three cases explored for colonic carcinoma with the discovery of incidental ileal carcinoids. There are few reports describing this variety of situations. The occurrence of concurrent malignant lesions, particularly more than one metachronous lesion in primary carcinoid cases, is uncommon.
