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.