Grupo de Investigación en Enfermedades Parasitarias, Tropicales e Infecciosas (GIEPATI), Universidad de Pamplona, Pamplona, Norte de Santander, Colombia.
Grupo de Dermatología General, Hospital Universitario- Centro Dermatológico Federico Lleras Acosta, Bogotá, Colombia.
PLoS One. 2023 Mar 6;18(3):e0281553. doi: 10.1371/journal.pone.0281553. eCollection 2023.
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.
The TaqMan qPCR amplification system was used for SNPs detection.
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.
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.
麻风病是一种由麻风分枝杆菌引起的慢性传染病。麻风病的发展涉及多个因素，包括病原体、个体宿主的免疫反应、环境因素和宿主的遗传背景。具体来说，宿主的先天免疫反应由基因编码决定了他们在感染后患麻风病的易感性。核苷酸结合寡聚化结构域 2（NOD2）基因中的多态性变异与世界各地多种流行地区的人群中的麻风病有关。哥伦比亚是一个位于热带地区的国家，有几个麻风病流行地区，包括北桑坦德。本研究的目的是分析 NOD2 基因中的 rs7194886、rs2111234、rs3135499 和 rs8057341 单核苷酸多态性（SNP），采用病例对照研究来确定它们是否与麻风病的易感性有关。
采用 TaqMan qPCR 扩增系统检测 SNP。
发现 A-rs8057341 单核苷酸多态性（SNP）（p = 0.006286）与麻风病的抗性有关。然而，rs3135499（p = 0.9063）和 rs2111234（p = 0.1492）与麻风病的易感性无关。此外，在研究人群中，rs7194886 SNP 不符合 Hardy-Weinberg 平衡（HWE）。由 SNP rs2111234-G、rs3135499-A 和 rs8057341-G 组成的 GAG 单倍型被认为是女性患麻风病的易感因素。根据计算机分析，SNP rs3135499 和 rs8057341 与 NOD2 表达降低有关。
在北桑坦德哥伦比亚研究人群中，SNP rs8057341-A 与麻风病的抗性有关，而单倍型 rs2111234-G、rs3135499-A 和 rs8057341-G 与易感性有关。
