@article{102538,
  keywords = {Mannose-Binding Lectin, Genetics, Immunology, SNPs, Brazilian population},
  author = {Nogueira KRC and de Almeida Freitas H and da Paz MNVT and Costa ARRS and Nunes IC and de Araújo Souza JLR and de Oliveira Barreto E and de Souza Ferro JN and de Carvalho Fraga CA and do Carmo RF and Silva ATP and de Sales Marques C},
  title = {Association between MBL2 gene polymorphism and protection against leprosy in a population of northeastern brazil: a case-control study},
  abstract = {<p>Leprosy is a chronic and neglected infectious disease caused by the bacilli&nbsp;<em>Mycobacterium leprae</em>&nbsp;and&nbsp;<em>Mycobacterium lepromatosis</em>, and is considered a public health problem. The genetic basis of the host is a determining factor in the development of the disease, highlighting genetic mutations in the&nbsp;<em>MBL2</em>&nbsp;gene. The aim of this study was to investigate the associations of the rs1800450 polymorphism in the&nbsp;<em>MBL2</em>&nbsp;gene in populations from Northeastern Brazil. A retrospective case-control genetic association study was conducted in the state of Alagoas, with replication in a population from Pernambuco/Bahia. The case group included patients diagnosed with leprosy, whereas the control group included healthy individuals. The participants’ DNA was extracted via the salting-out method and genotyped via real-time PCR. The allele and genotypic frequencies of the&nbsp;<em>MBL2</em>&nbsp;(rs1800450) were obtained and subsequently compared between groups via logistic regression. In the population of Alagoas, 556 individuals were recruited, of which 292 were cases and 264 were healthy controls. A statistically significant association was observed between the SNP rs1800450 at&nbsp;<em>MBL2</em>&nbsp;gene and protection against leprosy, for both the CT genotype (OR = 0.49,&nbsp;<em>p</em> = 0.001, CI = 0.32–0.75), for the T allele and for T carriers (<em>p</em> = 0.046, OR = 0.51, CI = 0.34–0.78;&nbsp;<em>p</em> = 0.002, OR = 0.51, CI = 0.34–0.78, respectively). However, no association was observed in the replication population. When combining the populations, it continued to show a significant association with protection against leprosy in the CT genotype (<em>p</em> = 0.004, OR = 0.66, CI = 0.51–0.87) and in T carriers (<em>p</em> = 0.009, OR = 0.70, CI = 0.54–0.91) even when adjusted by sex. The SNP rs1800450 in the&nbsp;<em>MBL2</em>&nbsp;gene was associated with leprosy protection in a population from Northeastern Brazil.</p>
},
  year = {2025},
  journal = {Scientific Reports},
  volume = {15},
  pages = {1-10},
  publisher = {Springer Science and Business Media LLC},
  issn = {2045-2322},
  url = {https://www.nature.com/articles/s41598-025-11597-4#citeas},
  doi = {10.1038/s41598-025-11597-4},
  language = {eng},
}