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Updated: Dec 30, 2025

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
Published on: June 21, 2018
Association between IL-1 gene polymorphisms and tuberculosis susceptibility in the Chinese Tibetan population
Jiaxin Wang1, Tianbo Jin1, Fangping Mo1
1Key Laboratory of High Altitude Environment and Genes Related to Diseases of Tibet Autonomous Region, School of Medicine, Xizang Minzu University Xianyang 712082, Shaanxi, China.
Abstract:
Interleukin-1 (IL-1) gene is known to be implicated in tuberculosis (TB). The present case-control study was designed to investigate whether IL-1 polymorphisms associated with TB susceptibility in a Chinese Tibetan cohort. 300 Tibetan tuberculosis patients and 300 healthy controls were recruited for 12 single-nucleotide polymorphisms (SNPs) genotyping of IL-1 gene via Sequenom MassARRAY analysis. The odds ratio (OR) and 95% confidence interval (CI) were analyzed by unconditional logistic regression to evaluate the effect of polymorphisms on the risk of tuberculosis. Among genotyped SNPs, a significant high risk between TB and SNP rs3783550 G/T, rs3783546 G/C, rs2856838 A/G, rs1609682 G/T, rs3783521 A/G genotype within IL-1α as well as rs1143623 G/G genotype within IL-1β was found based on multiple model analysis. In addition, IL-1α SNPs mapped in a 10 kb LD block with D'>0.98, suggesting that a significant linkage disequilibrium presence among these SNPs, and "TCATG" haplotype of IL-1α SNPs with a 1.47-fold risk for TB was observed (P = 0.007). In conclusion, our data shed new light on how IL-1 SNPs may contribute to tuberculosis susceptibility in the Chinese Tibetan population.
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