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Updated: Jul 4, 2025

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
Published on: June 21, 2018
Discovering the link between IL12RB1 gene polymorphisms and tuberculosis susceptibility: a comprehensive
Jie Huang1, Qiurong He1, Lijun Huang1
1Department of Clinical Laboratory, West China School of Public Health and West China Fourth Hospital, Sichuan University, Chengdu, China.
This study investigated interleukin-12 receptor b subunit 1 (IL12RB1) gene polymorphisms and tuberculosis (TB) risk. While some IL12RB1 biomarkers showed no association, rs375947 was weakly linked to pulmonary TB susceptibility.
Area of Science:
- Genetics
- Immunology
- Infectious Diseases
Background:
- Tuberculosis (TB) risk is potentially linked to gene polymorphisms in interleukin-12 receptor b subunit 1 (IL12RB1).
- Previous investigations into the association between IL12RB1 polymorphisms and TB susceptibility require further comprehensive analysis.
Approach:
- A meta-analysis was performed on eight case-control studies, encompassing 10,112 individuals.
- A systematic literature search was conducted across major databases (PubMed, Web of Science, EMBASE, Google Scholar) up to April 2023.
- Random-effects modeling was used to pool odds ratios (ORs) and 95% confidence intervals (CIs), with epidemiological credibility assessed using Venice criteria and FPRP analyses.
Key Points:
- The IL12RB1 polymorphisms rs11575934 and rs401502 demonstrated no significant association with TB susceptibility.
- A weak association was identified between the IL12RB1 rs375947 biomarker and susceptibility to pulmonary tuberculosis (PTB) (OR = 1.64, 95% CI: 1.22–2.21).
Conclusions:
- The identified weak association between IL12RB1 rs375947 and PTB susceptibility warrants further investigation.
- Larger, well-designed studies are recommended to definitively clarify the relationship between IL12RB1 gene biomarkers and susceptibility to various forms of TB.
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