02696nas a2200241   4500000000100000008004100001260003700042653002200079100001400101700002900115700001400144700001400158700001400172700001700186700001600203700001600219245016800235856009800403300000900501490000700510520192300517022001402440       2023                            d  bPublic Library of Science (PLoS)10amultidisciplinary1 aBustos MA1 aCastañeda-Castañeda LD1 aAcosta CR1 aGarcía D1 aBohada DP1 aRodríguez R1 aGuerrero MI1 aBoon-Peng H00aAssociation of the rs2111234, rs3135499, rs8057341 polymorphisms in the NOD2 gene with leprosy: A case-control study in the Norte de Santander, Colombia population  uhttps://journals.plos.org/plosone/article/file?id=10.1371/journal.pone.0281553&type=printable  a1-140 v183 a<p>Background: Leprosy is a chronic infectious disease caused by Mycobacterium leprae. The development of leprosy involves several factors, including the causative agent, the individual host’s immune response, environmental factors, and the genetic background of the host. Specifically, the host’s innate immune response, encoded by genes, determines their susceptibility to developing leprosy post-infection. Polymorphic variants in the nucleotide-binding oligomerization domain 2 (NOD2) gene are associated with leprosy among populations in a variety of endemic areas around the world. Colombia, a country located in the tropical zone, has several leprosy-endemic regions, including Norte de Santander. The aim of this study was to analyze the rs7194886, rs2111234, rs3135499, and rs8057341 single nucleotide polymorphisms (SNPs) in the NOD2 gene using a case-control study to determine whether they confer greater or lesser susceptibility to the development of leprosy.</p>

<p>Methodology: The TaqMan qPCR amplification system was used for SNPs detection. Findings An association between the A-rs8057341 SNP (p = 0,006286) and resistance to leprosy was found. However, the rs3135499 (p = 0,9063) and rs2111234 (p = 0.1492) were not found to be associated with leprosy susceptibility. In addition, the rs7194886 SNP was not found to be in Hardy-Weinberg equilibrium (HWE) in the study population. The GAG haplotype, consisting of SNPs rs2111234-G, rs3135499-A, and rs8057341G, acts as a susceptibility factor for the development of leprosy in women. SNPs rs3135499 and rs8057341 are functionally related to decreased NOD2 expression according to an in-silico analysis.</p>

<p>Conclusions: The SNPs rs8057341-A was related with resistance to leprosy and the haplotype rs2111234-G, rs3135499-A and rs8057341-G SNPs was related with susceptibility in the Norte de Santander Colombia, studied population.</p>
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