Effects of MBL2 polymorphisms in patients with diisocyanate-induced occupational asthma

Kim, Seung Hyun; Bae, Sujin; Palikhe, Sailesh; Ye, Young-Min; Park, Hae‐Sim

doi:10.1038/emm.2015.10

Cited by 9 publications

(4 citation statements)

References 48 publications

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“…In the candidate-gene studies, genes whose tested genetic markers were reported to include significant associations within a study population were: HLA-DQA1, HLA-DQB1, HLA-DRB1, HLA-DR, GSTP1, GSTM1, NAT1, NAT2, HLA-A, IL4RA, HLA-C, HLA-Cw, SOD2 aka MnSOD, HOA1, SERPIN1, SERPINB3, EPHX1, HLA-B, HLA-E, HLA-DOA, HLA-DQA2, HLA-DPB1, MBL2, PTGS1, PTGS2, TGF-B, and TNF-a ( Bignon et al, 1994 ; Balboni et al, 1996 ; Mapp et al, 2000 ; Mapp et al, 2002 ; Beghé et al, 2004 ; J Bernstein et al, 1997 ; Piirilä et al, 2001 ; Wikman et al, 2002 ; Kim et al, 2006 ; Ye et al, 2006 ; Choi et al, 2009 ; Ye et al, 2010 ; Kim et al, 2015 ; Bernstein et al, 2006 ; Yucesoy et al, 2012 ; Bernstein et al, 2013 ; Yucesoy et al, 2014 ; Yucesoy et al, 2015a ; Yucesoy et al, 2016 ).…”

Section: Resultsmentioning

confidence: 99%

The genetics of occupational asthma development among workers exposed to diisocyanates: A systematic literature review with meta-analysis

et al. 2022

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Diisocyanates are widely used compounds that pose a safety concern for workers in occupations within the spray-paint, spray-foam insulation, and furniture varnish industries. Epidemiological studies show that only a subset of workers exposed to diisocyanates develop diisocyanate-induced occupational asthma (diisocyanate asthma, DA), indicating that genetic susceptibility may play a role. The purpose of this systematic literature review was to compile and meta-analyze the reported data on genetic susceptibility markers for DA. Three databases (Embase, Pubmed, and Scopus) were searched and 169 non-duplicate publications were identified, of which 22 relevant occupational studies were included in this review. Researchers reported prevalence odds ratios (PORs) for 943 comparisons in 82 different genes/serotypes. Protein network functions for the DA-associated genes from this review include: antigen processing, lymphocyte activation, cytokine production regulation, and response to oxidative stress. Meta-analysis of comparisons between workers with DA and controls was conducted for 23 genetic markers within: CTNNA3, GSTM1, GSTP1, GSTT1, HLA-C, HLA-DQB1, HLA-DR1, HLA-DR3, HLA-DR4, HLA-DR7, and HLA-DR8. These genes code for proteins that are involved in cell-cell adhesions (CTNNA3), glutathione conjugation for xenobiotic metabolism (GST gene family), and immune system response (HLA gene family). The most compelling pooled PORs were for two studies on CTNNA3 (increased DA risk: rs10762058 GG, rs7088181 GG, rs4378283 TT; PORs 4.38–4.97) and three studies on HLA-DR1 (decreased DA risk, POR 0.24). Bioinformatics of the predicted protein pathways for DA shows overlap with biomarker-associated pathways in workers before development of asthma, suggesting overlap in toxicokinetic and toxicodynamic pathways of diisocyanates. The control groups were also compared against each other and differences were negligible. Suggestions for improving future research are also presented. Of the highest importance, the literature was found to be profoundly publication-biased, in which researchers need to report the data for all studied markers regardless of the statistical significance level. We demonstrate the utility of evaluating the overlap in predicted protein pathway functions for identifying more consistency across the reported literature including for asthma research, biomarker research, and in vitro studies. This will serve as an important resource for researchers to use when generating new hypothesis-driven research about diisocyanate toxicology.

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Section: Resultsmentioning

confidence: 99%

The genetics of occupational asthma development among workers exposed to diisocyanates: A systematic literature review with meta-analysis

et al. 2022

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“…The influence of MBL2 gene polymorphisms on human diseases has been reported in many studies. Kim SH et al investigated three SNPs (rs11003125, rs11003124, rs7096206) in the MBL2 promoter and found that polymorphisms of the MBL2 gene increased susceptibility to the development of diisocyanate-induced occupational asthma [ 29 ]. Mokhtari MJ et al demonstrated that MBL2 gene polymorphisms were associated with dental caries in Iranian adults and that the GG and GC genotypes of the MBL2 rs11003125 polymorphism remarkably increased caries risk according to the dominant model [ 30 ].…”

Section: Discussionmentioning

confidence: 99%

Association of MBL2 gene polymorphisms and MBL levels with dilated cardiomyopathy in a Chinese Han population

Mao,

Wei,

Gong

et al. 2024

BMC Med Genomics

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Background It has been reported that Mannose-binding lectin 2 (MBL2) gene polymorphisms and expression levels are related to dilated cardiomyopathy (DCM). This study aimed to investigate the potential association between MBL2 gene polymorphisms and the pathogenesis of DCM. Methods Five single nucleotide polymorphisms (SNPs) of the MBL2 gene were genotyped in 440 DCM patients and 532 controls in Southwest China. A luciferase reporter assay was used to detect the transcriptional activity the different genotypes. MBL serum levels, left ventricle ejection fraction (LVEF) and lower left ventricular end-diastolic diameter (LVEDD) were measured. Results The rs11003125 C allele increased the transcriptional activity of the MBL2 promoter compared with the rs11003125 G allele. The rs11003125 CC carriers had higher MBL serum levels, LVEF and LVEDD than the rs11003125 CG and GG carriers. Conclusions Our study first revealed that MBL2 polymorphisms and serum MBL levels were associated with DCM. Allele C in rs11003125 of MBL2 may upregulate the expression levels of MBL. High serum MBL levels may be a protective factor in DCM pathogenesis.

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“…MBL2 is a collagen-like serum protein that is a key component of innate immunity. MBL2 binds pathogens ( Mtb ) in its carbohydrate-recognition domains, and it mediates the lectin-dependent activation of the complement pathway 22 , 23 . Plasma MBL2 levels from TB patients were higher than those from healthcare workers in Vietnam, which supports our findings 24 .…”

Section: Discussionmentioning

confidence: 99%

“…The 2 −ΔΔCt method was used to calculate the relative levels of urine miRNAs. Table S4 lists the primers 23 , 48 , 49 .…”

Section: Methodsmentioning

confidence: 99%

Identification of potential urine proteins and microRNA biomarkers for the diagnosis of pulmonary tuberculosis patients

Wang¹,

Zhu

Xiong

et al. 2018

Emerging Microbes & Infections

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This study identified urinary biomarkers for tuberculosis (TB) diagnosis. The urine proteomic profiles of 45 pulmonary tuberculosis patients prior to anti-TB treatment and 45 healthy controls were analyzed and compared using two-dimensional electrophoresis with matrix-assisted laser desorption/ionization time of flight mass spectrometry. Nineteen differentially expressed proteins were identified preliminarily, and western blotting and qRT-PCR were performed to confirm these changes at the translational and transcriptional levels, respectively, using samples from 122 additional pulmonary tuberculosis patients and 73 additional healthy controls. Two proteins, mannose-binding lectin 2 and a 35-kDa fragment of inter-α-trypsin inhibitor H4, exhibited the highest differential expression. We constructed a protein-microRNA interaction network that primarily involved complement and inflammatory responses. Eleven microRNAs from microRNA-target protein interactions were screened and validated using qRT-PCR with some of the above samples, including 97 pulmonary tuberculosis patients and 48 healthy controls. Only miR-625-3p exhibited significant differential expression (p < 0.05). miR-625-3p was increased to a greater extent in samples of smear-positive than smear-negative patients. miR-625-3p was predicted to target mannose-binding lectin 2 protein. A binary logistic regression model based on miR-625-3p, mannose-binding lectin 2, and inter-α-trypsin inhibitor H4 was further established. This three-biomarker combination exhibited better performance for tuberculosis diagnosis than individual biomarkers or any two-biomarker combination and generated a diagnostic sensitivity of 85.87% and a specificity of 87.50%. These novel urine biomarkers may significantly improve tuberculosis diagnosis.

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Effects of MBL2 polymorphisms in patients with diisocyanate-induced occupational asthma

Cited by 9 publications

References 48 publications

The genetics of occupational asthma development among workers exposed to diisocyanates: A systematic literature review with meta-analysis

The genetics of occupational asthma development among workers exposed to diisocyanates: A systematic literature review with meta-analysis

Association of MBL2 gene polymorphisms and MBL levels with dilated cardiomyopathy in a Chinese Han population

Identification of potential urine proteins and microRNA biomarkers for the diagnosis of pulmonary tuberculosis patients

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