PMID- 27810076
OWN - NLM
STAT- MEDLINE
DCOM- 20170512
LR  - 20231213
IS  - 2210-7762 (Print)
VI  - 209
IP  - 10
DP  - 2016 Oct
TI  - Genotyping and differential expression analysis of inflammasome genes in sporadic 
      malignant melanoma reveal novel contribution of CARD8, IL1B and IL18 in melanoma 
      susceptibility and progression.
PG  - 474-480
LID - S2210-7762(16)30235-6 [pii]
LID - 10.1016/j.cancergen.2016.09.004 [doi]
AB  - Sporadic melanoma malignancy is correlated with constitutive secretion of IL-1beta 
      in transformed melanocytes suggesting the involvement of inflammasome in 
      melanoma. Common variants in inflammasome genes are known to affect IL-1beta 
      expression. To investigate the contribution of inflammasome genetics in melanoma 
      development and progression and to identify a potential prognostic marker, the 
      distribution of selected inflammasome SNPs was analysed in a Brazilian 
      case/control cohort of sporadic malignant melanoma (SMM) and then the expression 
      of inflammasome components was evaluated in melanoma biopsies. Allele and 
      gene-specific Taqman assays were implied for genotyping of case/control DNA 
      samples and for relative expression analysis in skin biopsies respectively. CARD8 
      rs6509365 was found to be significantly more common in healthy volunteers than in 
      SMM patients suggesting a protection effect of this variant towards melanoma 
      development. Accordingly, CARD8 expression was found to be reduced in nevus 
      compared to melanoma biopsies. Upon stratification, NLRP1 rs11651270 and CARD8 
      rs2043211 were found associated with nodular melanoma; IL1B rs1143643 to a lower 
      value of Breslow index; IL18 rs5744256 to melanoma development in sun sensitive 
      individuals. As expected, IL1B expression was up-regulated in tumour biopsies 
      especially in metastatic samples, whereas IL18 was down-regulated compared to 
      nevus. Our results demonstrated for the first time the contribution of 
      inflammasome genes CARD8, IL1B and IL18 in SMM.
CI  - Copyright (c) 2016 Elsevier Inc. All rights reserved.
FAU - da Silva, Wanessa Cardoso
AU  - da Silva WC
AD  - Laboratory of Medical Investigation in Dermatology and Immunodeficiences-LIM 56, 
      Department of Dermatology, Faculty of Medicine, University of Sao Paulo, Avenida 
      Dr Eneas de Carvalho Aguiar, 470 - Predio 2-3 degrees  andar, 05403-000 Cerqueira Cesar, 
      Sao Paulo, Brazil. Electronic address: wanessacardoso@yahoo.com.br.
FAU - Oshiro, Telma Miyuki
AU  - Oshiro TM
AD  - Laboratory of Medical Investigation in Dermatology and Immunodeficiences-LIM 56, 
      Department of Dermatology, Faculty of Medicine, University of Sao Paulo, Avenida 
      Dr Eneas de Carvalho Aguiar, 470 - Predio 2-3 degrees  andar, 05403-000 Cerqueira Cesar, 
      Sao Paulo, Brazil.
FAU - de Sa, Daniel Coelho
AU  - de Sa DC
AD  - Department of Dermatology, Faculty of Medicine, University of Sao Paulo, Avenida 
      Dr. Eneas de Carvalho Aguiar 500, 05403-000 Cerqueira Cesar, Sao Paulo, Brazil.
FAU - Franco, Dilcilea D G S
AU  - Franco DD
AD  - Department of Dermatology, Faculty of Medicine, University of Sao Paulo, Avenida 
      Dr. Eneas de Carvalho Aguiar 500, 05403-000 Cerqueira Cesar, Sao Paulo, Brazil.
FAU - Festa Neto, Cyro
AU  - Festa Neto C
AD  - Department of Dermatology, Faculty of Medicine, University of Sao Paulo, Avenida 
      Dr. Eneas de Carvalho Aguiar 500, 05403-000 Cerqueira Cesar, Sao Paulo, Brazil.
FAU - Pontillo, Alessandra
AU  - Pontillo A
AD  - Laboratory of Immunogenetics, Department of Immunology, Institute of Biomedical 
      Sciences, University of Sao Paulo, Avenida Prof. Lineu Prestes 1730, 05508-000 
      Cidade Universitaria, Sao Paulo, Brazil.
LA  - eng
PT  - Comparative Study
PT  - Journal Article
DEP - 20160916
PL  - United States
TA  - Cancer Genet
JT  - Cancer genetics
JID - 101539150
RN  - 0 (Biomarkers, Tumor)
RN  - 0 (CARD Signaling Adaptor Proteins)
RN  - 0 (CARD8 protein, human)
RN  - 0 (IL1B protein, human)
RN  - 0 (Inflammasomes)
RN  - 0 (Interleukin-18)
RN  - 0 (Interleukin-1beta)
RN  - 0 (Neoplasm Proteins)
SB  - IM
MH  - Aged
MH  - Alleles
MH  - Biomarkers, Tumor/genetics
MH  - Brazil
MH  - CARD Signaling Adaptor Proteins/*genetics
MH  - Case-Control Studies
MH  - Disease Progression
MH  - Female
MH  - Follow-Up Studies
MH  - *Genetic Predisposition to Disease
MH  - Genotype
MH  - Humans
MH  - Inflammasomes/*genetics
MH  - Interleukin-18/*genetics
MH  - Interleukin-1beta/*genetics
MH  - Lymphatic Metastasis
MH  - Male
MH  - Melanoma/*genetics/immunology/secondary
MH  - Middle Aged
MH  - Neoplasm Invasiveness
MH  - Neoplasm Proteins/*genetics
MH  - Neoplasm Staging
MH  - Polymorphism, Single Nucleotide/*genetics
MH  - Prognosis
MH  - Risk Factors
MH  - Skin Neoplasms/genetics/immunology/pathology
MH  - Melanoma, Cutaneous Malignant
OTO - NOTNLM
OT  - CARD8
OT  - IL1B
OT  - Melanoma
OT  - SNPs
OT  - inflammasome
EDAT- 2016/11/05 06:00
MHDA- 2017/05/13 06:00
CRDT- 2016/11/05 06:00
PHST- 2016/05/24 00:00 [received]
PHST- 2016/08/30 00:00 [revised]
PHST- 2016/09/08 00:00 [accepted]
PHST- 2016/11/05 06:00 [pubmed]
PHST- 2017/05/13 06:00 [medline]
PHST- 2016/11/05 06:00 [entrez]
AID - S2210-7762(16)30235-6 [pii]
AID - 10.1016/j.cancergen.2016.09.004 [doi]
PST - ppublish
SO  - Cancer Genet. 2016 Oct;209(10):474-480. doi: 10.1016/j.cancergen.2016.09.004. 
      Epub 2016 Sep 16.