Investigating the influence of inflammasome complex genes on Turner syndrome.

Autor: Samanta Moraes Laranjeira R; Departamento de Genética, Universidade Federal de Pernambuco, Recife, PE, Brazil. Electronic address: raysa.samanta@ufpe.br., Eduarda de Albuquerque Borborema M; Departamento de Genética, Universidade Federal de Pernambuco, Recife, PE, Brazil; Laboratório de Imunopatologia Keizo Asami - LIKA, Universidade Federal de Pernambuco, Recife, PE, Brazil., Milene Dos Santos Barbosa A; Departamento de Genética, Universidade Federal de Pernambuco, Recife, PE, Brazil., Vieira de Barros Arcoverde J; Departamento de Genética, Universidade Federal de Pernambuco, Recife, PE, Brazil., Albertina Dantas de Lima C; Laboratório de Imunopatologia Keizo Asami - LIKA, Universidade Federal de Pernambuco, Recife, PE, Brazil., de Rezende Duarte A; Serviço de Genética Médica, Instituto de Medicina Integral Professor Fernando Figueira, Recife, PE, Brazil., Guiomar Sales Gomes da Silva B; Serviço de Endocrinologia Pediátrica do Hospital das Clínicas, Universidade Federal de Pernambuco, Recife, PE, Brazil., de Azevêdo Silva J; Departamento de Genética, Universidade Federal de Pernambuco, Recife, PE, Brazil; Laboratório de Imunopatologia Keizo Asami - LIKA, Universidade Federal de Pernambuco, Recife, PE, Brazil., Santos N; Departamento de Genética, Universidade Federal de Pernambuco, Recife, PE, Brazil.
Jazyk: angličtina
Zdroj: Human immunology [Hum Immunol] 2024 Oct 23; Vol. 85 (6), pp. 111164. Date of Electronic Publication: 2024 Oct 23.
DOI: 10.1016/j.humimm.2024.111164
Abstrakt: Turner syndrome (TS) is associated with an increased susceptibility to inflammatory and autoimmune diseases. This study investigates the association between genetic polymorphisms in the IL1B and NLRP3 genes, as well as the expression profiles of IL1B, NLRP3, and NLRP1, and the risk of inflammatory and autoimmune conditions in TS patients compared to healthy controls. The genetic association analysis included 92 TS patients (case) and 146 healthy controls (HC), evaluating IL1B rs16944, NLRP3 rs10754558 and rs4925659 using TaqMan genotyping assays. In addition, mRNA expression levels of IL1B, NLRP3, and NLRP1 were also compared in 17 TS patients and 17 healthy females (control group) using qPCR-based fluorogenic probes. The study found significant associations with the G allele of rs16944 (p = 0.001) and the GG genotype (p = 0.002) in TS patients, though these were not associated with inflammatory disorders in this group., On the other hand, rs4925659 exhibited a significantly higher frequency of the A allele (p = 0.02) and AA genotype (p = 0.0001) in HC, while the A allele and GA genotype were more common in the TS group (p = 0.0001). Expression analysis revealed a downregulation of IL1B and NLRP3 (fold change: FC = -6.78 and -15.73, respectively) and an upregulation of NLRP1 (FC = 21.5) in TS patients compared to HC. These results indicate a differential distribution of IL1B and NLRP3 polymorphisms in TS patients, and suggest that alterations in the expression of IL1B, NLRP3, and NLRP1 may contribute to an inflammatory imbalance in the Turner syndrome.
Competing Interests: Declaration of competing interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper.
(Copyright © 2024 American Society for Histocompatibility and Immunogenetics. Published by Elsevier Inc. All rights reserved.)
Databáze: MEDLINE
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