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Mannan-binding lectin-associated serine protease-2 (MASP-2) deficiency in two patients with pulmonary tuberculosis and one healthy control
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A low-frequency missense variant in MASP2 (rs72550870, Asp120Gly, MAF = 3.0%), previously linked to MASP2 deficiency, is associated in trans with higher MASP1 levels (β = 0.17, P = 2.5 × 10 -15), reduced FCN2 levels (β = -0.22, P = 2.6 × 10 -32), higher FCN1 levels (β = 0.17, P = 1.4 × 10 -17) and lower C1QTNF9 levels (β = -0.12, P = 6.6 × 10 -14).
“Similarly, we found a low-frequency missense variant in MASP2 (rs72550870, Asp120Gly, MAF = 3.0%), previously linked to MASP2 deficiency [47][48][49] , associated in trans with higher MASP1 levels (β = 0.17, P = 2.5 × 10 -15 ; independent to the primary association), reduced FCN2 levels (β = -0.22,P = 2.6 × 10 -32 ), higher FCN1 levels (β = 0.17, P = 1.4 × 10 -17 ) and lower C1QTNF9 levels (β = -0”
From Plasma proteomic associations with genetics and health in the UK Biobank (2023) · cites this paper as [47]
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Research works printed but not linked: 11
- Thiel S, Steffensen R, Christensen IJ, Ip WK, Lau YL, Reason IJ et al. Deficiency of mannan-binding lectin associated serine protease-2 due to missense polymorphisms. Genes Immun 2007; 8: 154–163. · DOI
- Stengaard-Pedersen K, Thiel S, Gadjeva M, Moller-Kristensen M, Sorensen R, Jensen LT et al. Inherited deficiency of mannan-binding lectin associated serine protease 2. N Engl J Med 2003; 349: 554–560. · DOI · Paper page
- Cedzynski M, Szemraj J, Swierzko AS, Bak-Romaniszyn L, Banasik M, Zeman K et al. Mannan-binding lectin insufficiency in children with recurrent infections of the respiratory system. Clin Exp Immunol 2004; 136: 304–311. · DOI
- Garcia-Laorden MI, Garcia-Saavedra A, de Castro FR, Violan JS, Rajas O, Blanquer J et al. Low clinical penetrance of mannose-binding lectin-associated serine protease 2 deficiency. J Allergy Clin Immunol 2006; 118: 1383–1386. · DOI
- Garcia-Laorden MI, Sole-Violan J, Rodriguez de Castro F, Aspa J, Briones ML, Garcia-Saavedra A et al. Mannose-binding lectin and mannose-binding lectin-associated serine protease 2 in susceptibility, severity, and outcome of pneumonia in adults. J Allergy Clin Immunol 2008; 122: 368–374. · DOI
- Stover C, Barrett S, Lynch NJ, Barker JN, Burden D, Trembath R et al. Functional MASP2 single nucleotide polymorphism plays no role in psoriasis. Br J Dermatol 2005; 152: 1313–1315. · DOI
- Olszowski T, Poziomkowska-Gęsicka I, Jensenius JC, Adler G . Lectin pathway of complement activation in a Polish woman with MASP-2 deficiency. Immunobiology 2013; in press (e-pub: 2013 Nov. 5th). · DOI
- Cedzynski M, Atkinson AP, Swierzko AS, MacDonald SL, Szala A, Zeman K et al. L-ficolin (ficolin-2) insufficiency is associated with combined allergic and infectious respiratory disease in children. Mol Immunol 2009; 47: 415–419. · DOI
- Olesen HV, Jensenius JC, Steffensen R, Thiel S, Schiotz PO . The mannan-binding lectin pathway and lung disease in cystic fibrosis—disfunction of mannan-binding lectin-associated serine protease 2 (MASP-2) may be a major modifier. Clin Immunol 2006; 121: 324–331. · DOI
- Segat L, Fabris A, Padovan L, Milanese M, Pirulli D, Lupo F et al. MBL2 and MASP2 gene polymorphisms in patients with hepatocellular carcinoma. J Viral Hepat 2008; 15: 387–391. · DOI
- Ytting H, Christensen IJ, Steffensen R, Alsner J, Thiel S, Jensenius JC et al. Mannan-binding lectin (MBL) and MBL-associated serine protease 2 (MASP-2) genotypes in colorectal cancer. Scand J Immunol 2011; 73: 122–127. · DOI
Cited by
Sorted by citations
Plasma proteomic associations with genetics and health in the UK Biobank
Sun, B. B., Chiou, J., Traylor, M., Benner, C., Hsu, Y.-H., Richardson, T. G., Surendran, P., Mahajan, A., Robins, C., Vasquez-Grinnell, S. G., et al. (2023) · Nature · doi:10.1038/s41586-023-06592-6 · Cited by 1,880
Metadata
- Authors
- Sokolowska, A., Szala, A., St Swierzko, A., Kozinska, M., Niemiec, T., Blachnio, M., Augustynowicz-Kopec, E., Dziadek, J., & Cedzynski, M.
- Affiliations
- Institute for Medical Biology (PL)
- Venue
- Cellular & Molecular Immunology
- Published
- 2014-03-24
- Volume
- 12
- Issue
- 1
- Pages
- 119-121
- ISSN
- 1672-7681 (ISSN-L)
- 2042-0226
- PMC
- PMC4654364
- OpenAlex
- W2083257854
- Cited by
- 27
- References
- 0
- Citations by year
- 2026: 1 · 2025: 1 · 2024: 1 · 2023: 2 · 2022: 1 · 2021: 1 · 2020: 5 · 2019: 2 · 2018: 2 · 2017: 2 · 2016: 6 · 2015: 1 · 2014: 1
- FWCI
- 1.52
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Licence
- Locations
- Cellular and Molecular Immunology (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- Funders
- European Commission
- Topics
- Life Sciences › Immunology and Microbiology › Immunology › Complement system in diseases
- Life Sciences › Immunology and Microbiology › Immunology › Immunodeficiency and Autoimmune Disorders
- Health Sciences › Medicine › Infectious Diseases › Tuberculosis Research and Epidemiology
- Keywords
- MASP-2, pulmonary tuberculosis, complement deficiency
- MeSH terms
- Adult, Aged, DNA Mutational Analysis, Female, Gene Frequency, Genotype, Humans, Male, Mutation, Mycobacterium tuberculosis, Poland, Polymorphism, Genetic, Tuberculosis, Pulmonary, Genetic Predisposition to Disease, Mannose-Binding Protein-Associated Serine Proteases
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