Abstract

BackgroundTuberculosis (TB) is one of the leading causes of morbidity and mortality in Western China. Preclinical studies have suggested the protective effect of the C-type lectin receptor of family 4 member E (CLEC4E) from TB. Herein, we investigated the association between CLEC4E gene variants and TB susceptibility in a western Chinese Han population.MethodsWe genotyped four single nucleotide polymorphisms (SNPs) rs10841856, rs10770847, rs10770855 and rs4480590 in the CLEC4E gene using the improved multiplex ligation detection reaction (iMLDR) assay in 900 TB cases and 1534 healthy controls.ResultsAfter stratifying the whole data by sex, it was found that males exhibited mutant allele G of rs10841856 was more strongly associated with increased TB risk after Bonferroni correction (OR = 1.334, 95% CI: 1.142–1.560; P < 0.001 after adjusting for age; p = 0.001 after Bonferroni correction). The genetic model analysis found that rs10841856 was associated with the increased risk of TB among males under the dominant model (OR = 1.557, 95% CI = 1.228–1.984, P < 0.001 after adjusting for age, P < 0.001 after Bonferroni correction). Bioinformatics analysis suggested that rs10841856 might fall in putative functional regions and might be the expression quantitative trait loci (eQTL) for CLEC4E and long noncoding RNA RP11-561P12.5.ConclusionsOur study revealed that rs10841856 in the CLEC4E gene might be related to increased TB risk, especially the dominant genetic model among male Han individuals from Western China

Highlights

  • Tuberculosis (TB) is the leading cause of death among infectious diseases worldwide

  • Approximately one-third of the people worldwide are infected with Mycobacterium tuberculosis (MTB), it is worth noting that only 3–10% of them eventually develop active clinical TB during their lifetime [2]

  • The positive rate for MTB nucleic acid (TB-DNA) results among patients was 50.5%, which was a little higher than those of MTB smear and culture (50.5% vs. 32.8 and 33.7%, respectively), as shown in a previous article published by our research group [23]

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Summary

Introduction

Tuberculosis (TB) is the leading cause of death among infectious diseases worldwide. Approximately one-third of the people worldwide are infected with MTB, it is worth noting that only 3–10% of them eventually develop active clinical TB during their lifetime [2]. The occurrence or development of tuberculosis is determined by the complex interaction between three factors, the MTB strain itself, environmental, and host genetic factors [3,4,5]. Host genetics has been revealed to be important in determining disease progression and outcomes after MTB infection by many animal models studies, twin and family studies, as well as numerous case-control studies [6]. Tuberculosis (TB) is one of the leading causes of morbidity and mortality in Western China. We investigated the association between CLEC4E gene variants and TB susceptibility in a western Chinese Han population

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