ORIGINAL RESEARCH article
Front. Med.
Sec. Infectious Diseases: Pathogenesis and Therapy
Volume 12 - 2025 | doi: 10.3389/fmed.2025.1635313
This article is part of the Research TopicPathogenic microorganisms and biosafetyView all 15 articles
ULK1 gene polymorphisms and severe tuberculosis in the Chinese Han population: a case-control study
Provisionally accepted
- 1Deyang People's Hospital, Deyang, China
- 2West China Hospital of Sichuan University, Chengdu, China
Select one of your emails
You have multiple emails registered with Frontiers:
Notify me on publication
Please enter your email address:
If you already have an account, please login
You don't have a Frontiers account ? You can register here
Objectives: Polymorphisms in the uncoordinated 51-like kinase 1 (ULK1) gene are associated with susceptibility to multiple diseases, including neurodegenerative disorders and specific cancer types. In tuberculosis (TB) research, autophagy is recognized as an essential host mechanism against Mycobacterium tuberculosis (Mtb) infection. Consequently, functional variations in the ULK1 gene may affect autophagic efficiency, influencing the host immune response to Mtb and altering the severity of TB. This study aimed to investigate the association between ULK1 gene polymorphisms and severe TB within a Chinese Han population using a case-control study design. Methods: A case-control study was conducted, with patients diagnosed with mild TB as controls and those diagnosed with severe TB as cases. Peripheral blood samples were collected from all participants for genomic DNA extraction. Four tag single nucleotide polymorphisms (SNPs) within the ULK1 gene (rs9481, rs7138581, rs11616018, and rs1134574) were selected based on genotype data from the Han Chinese population in Beijing. The association between these SNPs and TB severity was analyzed. Additionally, clinical phenotype analysis was conducted for the loci associated with TB severity. Results: The minor allele G of the ULK1 gene SNP rs1134574 (A>G) was significantly associated with an increased risk of severe TB (ORa =23.499, 95% CI =7.339-75.249, Pa <0.0001). However, no statistically significant difference was observed in genotype frequencies or genetic models at this locus between severe and mild TB groups. Clinical phenotype analysis identified 995 patients with the AA genotype, 136 patients with the AG genotype, and 6 patients with the GG genotype at rs1134574. Significant differences were observed among these genotypes regarding the proportion of patients experiencing night sweats (P=0.045) and the percentage of neutrophils (P=0.046). Conclusions: The polymorphism rs1134574 of the ULK1 gene is significantly associated with severe TB, and clinical phenotype variations exist among different genotypes at this locus. These findings suggest a potential correlation between ULK1 gene polymorphisms and the incidence of severe TB within the Chinese Han population.
Keywords: severe tuberculosis, Genetic polymorphism, clinical phenotype, ULK1, Chinese Han population
Received: 26 May 2025; Accepted: 21 Aug 2025.
Copyright: © 2025 Zhang and He. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
* Correspondence: Jian-Qing He, West China Hospital of Sichuan University, Chengdu, China
Disclaimer: All claims expressed in this article are solely those of the authors and do not necessarily represent those of their affiliated organizations, or those of the publisher, the editors and the reviewers. Any product that may be evaluated in this article or claim that may be made by its manufacturer is not guaranteed or endorsed by the publisher.