Abstract:
BACKGROUND:Interleukins IL1ß/IL18 and Inflammasome NLRP1/NLRP3 polymorphisms can change the course of multiple human diseases, both inflammatory as infectious. SNPs these proteins were associated with the constructive activation of the Inflammasome and excessive production of IL-1β induce a serious autoinflammatory disease, as sickle cell anemia (SCA). The present study aims to association of interleukins IL1ß/IL18 and inflammasome NLRP1/NLRP3 polymorphisms in SCA patients in Amazon region and their association with severity score. METHODS:The study was developed at Fundação Hospitalar de Hematologia e Hemoterapia do Amazonas (HEMOAM) with 21 patients diagnosed SCA (HbSS) and 50 Healthy Donor´s. Genetic polymorphisms (SNPs) in interleukins IL1ß/IL18 and inflammasome NLRP1/NLRP3 were genotyped by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) and real time PCR. Simple and multiple logistic regression were performed to investigate association between the polymorphisms and the SCA and severe score. RESULTS:The genotypes C/C (IL18 -137G/C) and C/A (NLRP3, rs35829419) appear to be risk factors for SCA disease (IL18: G/G vs C/C OR=103.500 [95% CI: 8.32-1287.79, p<0.00001]; IL18: G/G vs G/C OR=7.360 [95% CI: 0.85-63.48, p=0.040]; IL18: G/G vs CC+CG OR=14.481 [95% CI: 1.79-117.32, p=0.002; NLRP3: C/C vs C/A: OR=10.967 [95% CI: 2.41-49.89, p=0.0004]). In addition, only allelic C (IL18 -137G/C) and A (NLRP3) appear to be risk factors for SCA disease (IL18: G vs C OR=6.366 [95% CI: 2.73-14.86, p<0.00001]; NLRP3: C vs A OR=8.383 [95% CI: 2.03-34.62, p=0.005]. No associations were observed between genotypes and alleles with the severity score. CONCLUSION:Evidence of association between the IL18 (rs16944) and NLRP3 (rs35829419) polymorphisms with sickle cell anemia were described. Our results suggest that individuals with genotypes evaluated are associated SCA disease even though it does not influence the severe score.
journal_name
Curr Mol Medjournal_title
Current molecular medicineauthors
de Almeida E,Frantz SR,Cesar P,Tarragô AM,de Amorim Xabregas L,Garcia NP,Costa AG,de Paula EV,Malheiro Adoi
10.2174/1566524019666190826143749subject
Has Abstractpub_date
2019-01-01 00:00:00pages
776-783issue
10eissn
1566-5240issn
1875-5666pii
CMM-EPUB-100450journal_volume
19pub_type
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