scholarly journals A SNaPshot Assay for Determination of the Mannose-Binding Lectin Gene Variants and an Algorithm for Calculation of Haplogenotype Combinations

Diagnostics ◽  
2021 ◽  
Vol 11 (2) ◽  
pp. 301
Author(s):  
Jana Mrazkova ◽  
Petr Sistek ◽  
Jan Lochman ◽  
Lydie Izakovicova Holla ◽  
Zdenek Danek ◽  
...  
Keyword(s):  
Association Studies ◽  
Genetic Association Studies ◽  
Cost Effective ◽  
European Population ◽  
Mannose Binding Lectin ◽  
Nucleotide Polymorphisms ◽  
Online Application ◽  
Czech Population ◽  
Mannose Binding ◽  
Binding Lectin

Mannose-binding lectin (MBL) deficiency caused by the variability in the MBL2 gene is responsible for the susceptibility to and severity of various infectious and autoimmune diseases. A combination of six single nucleotide polymorphisms (SNPs) has a major impact on MBL levels in circulation. The aim of this study is to design and validate a sensitive and economical method for determining MBL2 haplogenotypes. The SNaPshot assay is designed and optimized to genotype six SNPs (rs1800451, rs1800450, rs5030737, rs7095891, rs7096206, rs11003125) and is validated by comparing results with Sanger sequencing. Additionally, an algorithm for online calculation of haplogenotype combinations from the determined genotypes is developed. Three hundred and twenty-eight DNA samples from healthy individuals from the Czech population are genotyped. Minor allele frequencies (MAFs) in the Czech population are in accordance with those present in the European population. The SNaPshot assay for MBL2 genotyping is a high-throughput, cost-effective technique that can be used in further genetic-association studies or in clinical practice. Moreover, a freely available online application for the calculation of haplogenotypes from SNPs is developed within the scope of this project.

Identification of Single Nucleotide Polymorphisms in the Nicastrese Goat and Sardinia Sheep Mannose-Binding Lectin

2011 ◽  
Vol 50 (1-2) ◽  
pp. 73-83 ◽  
Author(s):  
Gianfranco Cosenza ◽  
Alfredo Pauciullo ◽  
Andrea Mancusi ◽  
Annalisa D’Avino ◽  
Letizia Colimoro ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphisms ◽  
Mannose Binding Lectin ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Mannose Binding ◽  
Binding Lectin

Influence of mannose-binding lectin on HIV infection and tuberculosis in a Western-European population

2006 ◽  
Vol 43 (14) ◽  
pp. 2143-2150 ◽  
Author(s):  
M GARCIALAORDEN ◽  
M PENA ◽  
J CAMINERO ◽  
A GARCIASAAVEDRA ◽  
M CAMPOSHERRERO ◽  
...  
Keyword(s):  
Hiv Infection ◽  
European Population ◽  
Mannose Binding Lectin ◽  
Mannose Binding ◽  
Western European ◽  
Binding Lectin

scholarly journals Genetic association between mannose-binding lectin polymorphisms and viral hepatitis: a meta-analysis

2019 ◽  
Vol 77 (7) ◽  
Author(s):  
Chunhua Qie ◽  
Yamin Liu ◽  
Ping Ma ◽  
Hongzhang Wu
Keyword(s):  
Viral Hepatitis ◽  
Genetic Association ◽  
Association Studies ◽  
Meta Analysis ◽  
Mannose Binding Lectin ◽  
Dominant Model ◽  
Subgroup Analyses ◽  
Mannose Binding ◽  
Exon 1 ◽  
Binding Lectin

ABSTRACT Some previous genetic association studies have tried to investigate potential associations between mannose-binding lectin (MBL) polymorphisms and viral hepatitis. However, the results of those studies were not consistent. Therefore, we performed the current meta-analysis to explore associations between MBL polymorphisms and viral hepatitis in a large pooled population. A systematic literature research of PubMed, Web of Science, Embase and CNKI was performed to identify eligible studies for pooled analyses. We used Review Manager version 5.3.3 to conduct statistical analyses. In total, 27 studies were included for analysis (4840 cases and 5729 controls). The pooled analyses showed that MBL promoter (-211C/G, dominant model: P = 0.0002, I2 = 40%; over-dominant model: P = 0.0001, I2 = 22%) and exon 1 (codon 52, 54 and 57, dominant model: P = 0.04, I2 = 49%; allele model: P = 0.01, I2 = 48%) polymorphisms were both significantly associated with viral hepatitis in the overall population. Further subgroup analyses revealed similarly significant findings for MBL promoter polymorphism in HBV and HCV, but no positive results were detected in subgroup analyses for MBL exon 1 polymorphism. These results suggested that MBL promoter and exon 1 polymorphisms could be used to identify individuals at higher susceptibility to HBV and HCV.

scholarly journals Association of Mannose-Binding Lectin Gene Polymorphisms with Liver Diseases: A Review

2018 ◽  
Vol 5 (1) ◽  
pp. 39-46
Author(s):  
Robert S. Lo ◽  
Andrew S. Austin ◽  
Jan G. Freeman
Keyword(s):  
Viral Hepatitis ◽  
Liver Diseases ◽  
Mannose Binding Lectin ◽  
Lectin Pathway ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Viral Hepatitis C ◽  
Mannose Binding ◽  
And Function ◽  
Binding Lectin

Mannose-Binding Lectin (MBL) is a member of the collectin family and is an important protein in the immune system. It is a pathogen pattern-recognition molecule that binds to specific carbohydrate motifs on the surface of many pathogens. MBL activates complement via lectin pathway. Single nucleotide polymorphisms in the MBL gene influence serum MBL concentration and function. MBL deficiencies increase the risk of infection and disease-specific complications, especially in those who are already immune compromised with pre-existing conditions. This review discusses the molecular genetics of human MBL and the association of MBL polymorphisms with liver diseases including liver fibrosis, viral hepatitis B, viral hepatitis C, and infection post-liver transplantation.

scholarly journals Mannose Binding Lectin Genotypes Influence Recovery from Hepatitis B Virus Infection

2005 ◽  
Vol 79 (14) ◽  
pp. 9192-9196 ◽  
Author(s):  
Chloe L. Thio ◽  
Timothy Mosbruger ◽  
Jacquie Astemborski ◽  
Spencer Greer ◽  
Gregory D. Kirk ◽  
...  
Keyword(s):  
Hepatitis B Virus ◽  
Hepatitis B ◽  
Viral Persistence ◽  
Mannose Binding Lectin ◽  
Central Component ◽  
Nucleotide Polymorphisms ◽  
B Virus ◽  
Mannose Binding ◽  
Exon 1 ◽  
Binding Lectin

ABSTRACT Mannose binding lectin (MBL) is a central component of the innate immune response and thus may be important for determining hepatitis B virus (HBV) persistence. Since single-nucleotide polymorphisms (SNPs) in the gene encoding MBL (mbl2) alter the level of functional MBL, we hypothesized that mbl2 genotypes are a determinant of HBV persistence or recovery from viral infection. We tested this hypothesis by using a nested case control design with 189 persons with HBV persistence matched to 338 individuals who had naturally recovered from HBV infection. We determined genotypes of two promoter and three exon 1 SNPs in mbl2 and grouped these genotypes according to the amount of functional MBL production. We found that the promoter SNP −221C, which leads to deficient MBL production, was more common in those subjects with viral persistence (odds ratio [OR], 1.38; 95% confidence interval [CI], 1.01 to 1.89; P = 0.04). Those subjects homozygous for the combination of promoter and exon 1 genotypes associated with the highest amount of functional MBL had significantly increased odds of recovery from infection (OR, 0.55; 95% CI, 0.37 to 0.84; P = 0.005). Conversely, those homozygous for the combination of promoter and exon 1 genotypes which produce the lowest amount of functional MBL were more likely to have viral persistence (OR, 1.76; 95% CI, 1.02 to 3.01; P = 0.04). These data are consistent with the hypothesis that functional MBL plays a central role in the pathogenesis of acute hepatitis B.

scholarly journals Lack of associations between lactoferrin (LTF) and mannose-binding lectin 2 (MBL2) gene polymorphism and dental caries susceptibility

2020 ◽  
Vol 48 (7) ◽  
pp. 030006052094342
Author(s):  
Xiao-Pan Hu ◽  
Hai-jing Zhou ◽  
Zhi-Qiang Li ◽  
Tian-Zhu Song ◽  
Yan-Yan Zhu
Keyword(s):  
Dental Caries ◽  
Northwest China ◽  
Mannose Binding Lectin ◽  
Control Group ◽  
Case Group ◽  
Nucleotide Polymorphisms ◽  
Mbl2 Gene ◽  
Mannose Binding ◽  
Dental Caries Susceptibility ◽  
Binding Lectin

Objective With the development of human genomics, the genetic factors associated with dental caries have receiving increasing attention. This study was performed to evaluate the relationship between lactoferrin ( LTF) and mannose-binding lectin 2 ( MBL2) gene single nucleotide polymorphisms (SNPs) and dental caries susceptibility in Chinese children. Methods This prospective case–control study included 360 unrelated children (aged 12–15 years) who received oral health examinations and questionnaire surveys. The children were divided into two groups by counting the numbers of decayed, missing, and filled teeth (DMFT/dmft): case group (n = 162, DMFT/dmft ≥ 1) and control group (n = 198, DMFT/dmft = 0); non-invasive saliva samples were collected to extract genomic DNA. Six SNPs ( rs2073495C/G, rs1042073C/T, rs10865941C/T, and rs1126477A/G in LTF; rs7096206C/G and rs7095891G/A in MBL2) were tested by mass spectrometry. Results The study included 360 individuals with (85 boys and 77 girls) and without a history of caries (96 boys and 102 girls). There were no statistically significant differences in alleles and genotypes among the six SNPs between the two groups. Conclusion There is no evidence that polymorphisms of LTF and MBL2 genes are associated with dental caries susceptibility in populations from northwest China; further confirmation is needed with larger sample sizes.

Sign in / Sign up

Export Citation Format

Share Document