03076nas a2200337   4500000000100000008004100001260004400042653002700086653001300113653001500126653000900141653002500150100001700175700002500192700001600217700001500233700001300248700002500261700002600286700002200312700002500334700001600359700001400375700002300389245013900412856006200551300000900613490000700622520209500629022001402724       2025                            d  bSpringer Science and Business Media LLC10aMannose-Binding Lectin10aGenetics10aImmunology10aSNPs10aBrazilian population1 aNogueira KRC1 ade Almeida Freitas H1 ada Paz MNVT1 aCosta ARRS1 aNunes IC1 ade Araújo Souza JLR1 ade Oliveira Barreto E1 ade Souza Ferro JN1 ade Carvalho Fraga CA1 ado Carmo RF1 aSilva ATP1 ade Sales Marques C00aAssociation between MBL2 gene polymorphism and protection against leprosy in a population of northeastern brazil: a case-control study  uhttps://www.nature.com/articles/s41598-025-11597-4#citeas  a1-100 v153 a<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>
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