Banca de DEFESA: KARLA REGINA CELESTINO NOGUEIRA

Uma banca de DEFESA de MESTRADO foi cadastrada pelo programa.
STUDENT : KARLA REGINA CELESTINO NOGUEIRA
DATE: 01/03/2024
TIME: 09:00
LOCAL: Sala 19 do ICBS
TITLE:

STUDY OF ASSOCIATION BETWEEN THE MBL2 GENE AND LEPROSY IN THE POPULATION OF ALAGOAS, BRAZIL

KEY WORDS:

Mycobacterium Leprae, mannose binding lectin, genetics, SNPs.

PAGES: 64
BIG AREA: Ciências da Saúde
AREA: Medicina
SUMMARY:

Leprosy, a chronic infectious disease, is identified as a serious public health
problem, as it is still considered the infectious disease that causes the largest
number of physical deformities in the world. The etiological agent of the
disease is the bacillus Mycobacterium leprae, and the recently associated
Mycobacterium lepromatosis. These microorganisms are able to overcome a
succession of physical barriers until reaching the Schwann cell. Some studies
have shown, in different populations, the importance of SNPs in genes
associated with leprosy. In this sense, studies that evaluated mutations in the
MBL2 gene have received attention. Genetic studies of SNPs in the MBL2
gene have already been associated in Brazilian populations, however, there
is no investigation into the role of this gene in Alagoas. The objective of the
present study was to investigate the association of the SNPs rs1800450 and
rs1800451 in the MBL2 gene with leprosy in the population of Alagoas, Brazil.
A case-control study was conducted, where the cases included patients
diagnosed with leprosy at reference centers in the cities of Maceió, Arapiraca,
Santana do Ipanema and Penedo, and the controls included healthy
individuals, blood donors at HEMOAL-Arapiraca. The DNA of individuals who
agreed to participate in the study was extracted using the salting out method
and genotyped using real-time PCR using allelic discrimination using TaqMan
probes. The allele, genotypic and allele carrier frequencies were obtained,
which were later compared between the groups using logistic regression. All
statistical analyzes were carried out using the R environment (version
1.4.1717). As a result of population recruitment in Alagoas, we obtained 592
individuals, of which 328 were cases and 264 were controls. For the
rs1800450 polymorphism in the MBL2 gene, a frequency of 89% was
observed in the total population for the C allele, with a frequency of 91% in
the group of cases and 86% in controls, being identified as the present
polymorphic allele study. In relation to the genotype, CC presented a higher
frequency in both cases (84%) and controls (72%), suggesting the distribution
of genotypes of this SNP in the Alagoas population. In the genotypic
association analysis, we can observe that there was an association between
the CT genotype of the SNP rs1800450 of the MBL2 gene and the leprosy
protection factor both before (p: 0.0007, OR: 0.49, CI: 0.32-0.74 ) as well as
after adjusting for sex in the logistic regression (p: 0.001, OR: 0.51, CI: 0.33-
0.77). The frequencies of T allele carriers were also obtained, and a positive
result of association of the SNP rs1800450 of the MBL2 gene for protection
against leprosy was observed, both before (p: 0.001, OR: 0.50, CI: 0.34-
0 .76) and how much after adjustment for the covariate sex (p: 0.002, OR:
0.52, CI: 0.35-0.79). The findings of the present study add information

regarding the genetic influence on leprosy in a population from Alagoas,
which may be useful in understanding the development of the disease in the
region

COMMITTEE MEMBERS:
Interno(a) - 1527220 - CAMILA BRAGA DORNELAS
Externo(a) ao Programa - 1822449 - DALMO ALMEIDA DE AZEVEDO - nullPresidente - 1345072 - JAMYLLE NUNES DE SOUZA FERRO