Deficiency of mannan-binding lectin associated serine protease-2 due to missense polymorphisms

S. Thiel, R. Steffensen, I. J. Christensen, W. K. Ip, Y. L. Lau, I. J.M. Reason, H. Eiberg, M. Gadjeva, M. Ruseva, J. C. Jensenius

Research output: Contribution to journalArticlepeer-review

67 Scopus citations


Mannan-binding lectin (MBL) and ficolins distinguish between self, non-self and altered-self by recognizing patterns of ligands on the surface of microorganisms or aberrant cells. When this happens MBL-associated serine protease-2 (MASP-2) is activated and cleaves complement factors to start inflammatory actions. We examined human populations for MASP-2 levels, MASP-2 function and for the presence of mutations in coding exons of MASP2. The MASP-2 levels were lowest in Africans from Zambia (median, 196ng/ml) followed by Hong Kong Chinese (262ng/ml), Brazilian Amerindians (290ng/ml) and Danish Caucasians (416ng/ml). In the Chinese population, we uncovered a novel four amino-acid tandem duplication (p.156_159dupCHNH) associated with low levels of MASP-2. The frequency of this mutation as well as the SNPs p.R99C, p.R118C, p.D120G, p.P126L and p.V377A were analyzed. The p.156_159dupCHNH was only found in Chinese (gene frequency 0.26%) and p.D120G was found only in Caucasians and Inuits from West-Greenland. The p.P126L and p.R99Q were present in Africans and Amerindians only, except for p.R99Q in one Caucasian. The MASP-2 levels were reduced in individuals with p.V377A present. The MASP-2 present in individuals homozygous for p.377A or p.99Q had a normal enzyme activity whereas MASP-2 in individuals homozygous for p.126L was non-functional.

Original languageEnglish (US)
Pages (from-to)154-163
Number of pages10
JournalGenes and Immunity
Issue number2
StatePublished - Mar 2007

ASJC Scopus subject areas

  • Immunology
  • Genetics
  • Genetics(clinical)


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