Single Nucleotide Polymorphisms of the Mannose-binding Lectin are Associated with Susceptibility to Primary Biliary Cirrhosis

2001 ◽  
Vol 17 (3) ◽  
pp. 251-257 ◽  
Author(s):  
Masanao Matsushita ◽  
Hiroshi Miyakawa ◽  
Atsushi Tanaka ◽  
Minako Hijikata ◽  
Kentaro Kikuchi ◽  
...  
Keyword(s):  
Primary Biliary Cirrhosis ◽  
Single Nucleotide Polymorphisms ◽  
Mannose Binding Lectin ◽  
Biliary Cirrhosis ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Mannose Binding ◽  
Binding Lectin

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

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 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.

Single-nucleotide polymorphisms in porcine mannan-binding lectin A

2006 ◽  
Vol 58 (12) ◽  
pp. 983-993 ◽  
Author(s):  
Brandon N. Lillie ◽  
Natalie D. Keirstead ◽  
E. James Squires ◽  
M. Anthony Hayes
Keyword(s):  
Single Nucleotide Polymorphisms ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Mannan Binding Lectin ◽  
Binding Lectin
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