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MBL2 rs7095891 G > A polymorphism was associated with an increased risk of tuberculosis in the Chinese Uygur population.

ABSTRACT: INTRODUCTION:Tuberculosis (TB) is a foremost infectious disease in most parts of the world. Globally, tuberculosis is the second-leading cause of infectious diseases. This has become a significant world-wide social and public health issue, and one of the major diseases in China. In addition to environmental risk factors, genetic factors may play an important role in the development of tuberculosis. METHODS:We conducted a case-control study to evaluate the genetic effects of functional single nucleotide polymorphisms (SNPs): MBL2 rs1800450 C > T, MBL2 rs7095891 G > A and MBL2 rs7096206 C > G, and their influences on the development of tuberculosis. A total of 231 tuberculosis cases and 240 controls were included in this study. Genotypes were determined using a custom-designed 48-Plex SNPscanTM kit. RESULTS:The MBL2 rs7095891 G > A polymorphism was associated with an increased risk of TB. However, there were no significant links with the other two SNPs. In any subgroup, there was no relvant risk of TB associated with MBL2 rs7095891 G > A polymorphism. CONCLUSION:These findings suggest that functional polymorphism MBL2 rs7095891 G > A may be positively correlated with susceptibility to tuberculosis. These findings may be somewhat limited by sample size. A further study with more focus on different regions, ethnic groups and larger sample sizes is therefore suggested.

SUBMITTER: Li X

PROVIDER: S-EPMC6261923 | biostudies-literature | 2018

REPOSITORIES: biostudies-literature

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<i>MBL2 rs7095891 G > A</i> polymorphism was associated with an increased risk of tuberculosis in the Chinese Uygur population.

Li Xinyue X Cao Xudong X El-Ashram Saeed S Zhang Wanjiang W Lu Lijun L Wang Xue X Chen Chuangfu C Wu Jiangdong J

International journal of molecular epidemiology and genetics 20181020 5

<h4>Introduction</h4>Tuberculosis (TB) is a foremost infectious disease in most parts of the world. Globally, tuberculosis is the second-leading cause of infectious diseases. This has become a significant world-wide social and public health issue, and one of the major diseases in China. In addition to environmental risk factors, genetic factors may play an important role in the development of tuberculosis.<h4>Methods</h4>We conducted a case-control study to evaluate the genetic effects of functi ...[more]

PMID: 30515260

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Project description:Tuberculosis (TB) is an infectious disease caused by a mycobacterial infection, with high morbidity and mortality worldwide. The pathogenesis of TB is still unclear; however, a growing body of evidence suggests that host genetic factors may play important roles in susceptibility to TB, and different gene polymorphisms in different ethnic and genetic backgrounds may lead to different effects. In view of the above theories, our research group used bioinformatics to screen for 12 single nucleotide polymorphisms (SNPs), including rs1045481, rs1045491, rs2740349, rs10719, rs642321, rs3744741, rs7813, rs3742330, rs3757, rs14035, rs720012, and rs4961280, which are derived from 6 main genes (i.e., GEMIN4, DICER1, DROSHA, DGCR8, AGO2, and RAN) acting in the microRNA-machinery pathway. We then analyzed the correlations between TB patients of Uygur in Xinjiang China and the above SNPs using a case-control study. The results showed that the genotypic distributions of rs720012 (from gene DGCR8) and rs4961280 (from gene AGO2) were not in accordance with the Hardy-Weinberg equilibrium (P?<?.05), so they were deleted. Subjects carrying the rs3742330 AG/GG genotype, rs1045481 GA genotype, rs1045491 CT genotype, and rs7813 AG genotype, respectively, had an increased risk of TB than individuals carrying rs3742330 AA genotype, rs1045481 GG/AA genotype, rs1045491 CC/TT genotype, and rs7813 AA/GG genotype between different groups. Expression quantitative trait loci analysis found that rs3744741 and rs2740349 from gene GEMIN4 had a regulatory effect, while rs3742330 from gene DICER1 had a reverse regulatory effect. Finally, according to the results of Linkage Disequilibrium between SNPs, the haplotype analysis showed that the haplotype of GCTAC from gene GEMIN4 had statistical differences when compared with active and inactive TB. The current experimental results provide a direction for our future research, and the research team will conduct more in-depth studies on the correlation between miRNA and TB.

Dataset Information

MBL2 rs7095891 G > A polymorphism was associated with an increased risk of tuberculosis in the Chinese Uygur population.

Publications

<i>MBL2 rs7095891 G > A</i> polymorphism was associated with an increased risk of tuberculosis in the Chinese Uygur population.

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