Banca de QUALIFICAÇÃO: KARLA REGINA CELESTINO NOGUEIRA

Uma banca de QUALIFICAÇÃO de MESTRADO foi cadastrada pelo programa.
STUDENT : KARLA REGINA CELESTINO NOGUEIRA
DATE: 31/01/2024
TIME: 14:00
LOCAL: Sala 19 do ICBS
TITLE:

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

KEY WORDS:

Mycobacterium Leprae, mannose-binding lectin, genetics, SNPs.

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

Leprosy, an infectious and chronic 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 disease's etiological agent is the
bacillus Mycobacterium leprae, and the recently associated Mycobacterium
lepromatosis. These microorganisms are capable of overcoming 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 been
highlighted. Genetic studies of SNPs of the MBL2 gene have already been associated
in Brazilian populations, however, there is no investigation of 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 cases included patients
diagnosed with leprosy in reference centers in the cities of Maceió, Arapiraca,
Santana do Ipanema and Penedo, and 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 through allelic discrimination using TaqMan probes. The allelic, genotypic and
allele carrier frequencies were obtained, which were subsequently compared
between the groups using logistic regression. All statistical analyzes were performed
in the R environment (version 1.4.1717). As a result of population recruitment in
Alagoas, we obtained 592 individuals, 328 cases and 264 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 case group and 86% in
controls, being identified as the present polymorphic allele. study. Regarding the
genotype, CC was more frequent in both cases (84%) and controls (72%), suggesting
the distribution of genotypes of this SNP in the Alagoas population. The rs1800451
SNP is still in progress. 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 with the leprosy protection factor both before (p: 0.0007, OR: 0.49, CI:
0.32-0.74 ) and 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, IC: 0.34-0 .76) and how much
after adjusting the sex covariate (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 of Alagoas, which may be useful for understanding the development of
the disease in the region.

COMMITTEE MEMBERS:
Presidente - 1345072 - JAMYLLE NUNES DE SOUZA FERRO
Interno(a) - 2033893 - MARCELO DUZZIONI
Externo(a) ao Programa - 1120670 - CLODIS MARIA TAVARES - UFAL