Single-Nucleotide Polymorphisms Related to Leprosy Risk and Clinical Phenotypes Among Chinese Population

Abstract

Background: Genome-wide association studies (GWASs) have identified some immunerelated single-nucleotide polymorphisms (SNPs) to be associated with leprosy. Methods: This study investigated the association of 17 SNPs based on previously published GWAS studies with susceptibility to leprosy, different polar forms and immune states of leprosy in a case-control study from southwestern China, including 1344 leprosy patients and 2732 household contacts (HHCs) (1908 relatives and 824 genetically unrelated contact individuals). The differences of allele distributions were analyzed using chi-squared analysis and logistic regression. Results: After adjusting covariate factors, rs780668 and rs3764147 polymorphisms influenced susceptibilities to genetically related or unrelated leprosy contact individuals. rs142179458 was associated with onset early cases, rs73058713 A allele and rs3764147 A allele increased the risk of reversal reaction, while rs3764147 G allele had higher risk to present lepromatous leprosy and erythema nodosum leprosum. Conclusion:Our results demonstrated that genetic variants in the LACC1, HIF1A, SLC29A3 and CDH18 genes were positively correlated with the occurrence of leprosy and leprosy clinical phenotypes, providing new insights into the immunogenetics of the disease.

Association of the rs2111234, rs3135499, rs8057341 polymorphisms in the NOD2 gene with leprosy: A case-control study in the Norte de Santander, Colombia population

“…NOD2 is a pattern recognition receptor (PRR) that plays a key role in the presence and magnitude of the immune and inflammatory responses, thus determining infection outcome [ 22 ]. NOD2 gene polymorphisms have been associated with susceptibility to leprosy and other immune-related diseases [ 21 , 26 , 27 ]. In this context, we performed a case-control study to evaluate the allele frequency and association of four polymorphisms (rs3135499, rs2111234, rs8057341, and rs7194886) in the NOD2 gene and their relationship with susceptibility to leprosy in people born in the Norte de Santander region of Colombia, which is endemic to this disease [ 28 ].…”

Polimorfismos nos genes CCDC122-LACC1 e IL23R e a hanseníase

“…Enquanto, o estudo de Liu et al (2017) apresentou a variante missense rs76418789 que foi fortemente associada à suscetibilidade à hanseníase (OR: 1,36, Pvalor: 1,03x10 -10 ), na mesma população. Porém, esse mesmo SNP (rs76418789) apresentou não associação em três estudos distintos realizados em populações brasileiras e chinesas (Leturiondo et al, 2020;Shen et al, 2020;Long et al, 2021). Esses achados sugerem uma expansão do entendimento das funções biológicas do IL23R, ao descobrir seu envolvimento na susceptibilidade a doenças infecciosas que sugerem envolvimento na autofagocitose na patogênese da hanseníase (Zhang et al, 2011) (Tabela 1).…”

“…O SNP citado é uma variante missense (p.lle254Val)(Gzara et al, 2020). episódios reacionais do tipo ENH, validando um status reativo nesse estudo(Long et al, 2021).Até o momento não há estudos que expliquem os mecanismos que estejam relacionados aos efeitos biológicos do gene CCDC122-LACC1 e a hanseníase. Pois esse seria um importante Brazilian Journal of Health Review, Curitiba, v. 7, n. 1, p. 543-553, jan./fev., 2024…”