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

S Thiel1, R Steffensen, I J Christensen

  • 1Department of Medical Microbiology and Immunology, University of Aarhus, Aarhus, Denmark. st@microbiology.au.dk

Genes and Immunity
|January 26, 2007
PubMed

Insights

Mannan-binding lectin-associated serine protease-2 (MASP-2) levels vary significantly across global populations. Specific MASP-2 gene mutations, like p.156_159dupCHNH in Chinese populations, are linked to reduced MASP-2 levels and function.

Area of Science:

  • Immunology
  • Genetics
  • Human Population Studies

Background:

  • Mannan-binding lectin (MBL) and ficolins are key pattern recognition molecules in the innate immune system.
  • Activation of MBL-associated serine protease-2 (MASP-2) initiates complement-mediated inflammatory responses.
  • Understanding MASP-2 variations is crucial for comprehending immune system function and diversity.

Purpose of the Study:

  • To investigate global variations in MASP-2 levels and function.
  • To identify and analyze mutations within the MASP2 gene across diverse human populations.
  • To correlate specific MASP2 genotypes with observed MASP-2 levels and enzymatic activity.

Main Methods:

  • Quantification of MASP-2 protein levels in serum from different ethnic groups.
  • Screening of MASP2 coding exons for mutations and single nucleotide polymorphisms (SNPs).
  • Genotyping analysis to determine the frequency of identified mutations and SNPs in study populations.

Main Results:

  • MASP-2 levels were lowest in Zambian Africans, followed by Hong Kong Chinese, Brazilian Amerindians, and Danish Caucasians.
  • A novel tandem duplication (p.156_159dupCHNH) in MASP2 was identified in Chinese populations, associated with low MASP-2 levels.
  • Specific SNPs (p.D120G, p.P126L, p.V377A) showed distinct ethnic distributions and affected MASP-2 levels or function, with p.126L homozygotes exhibiting non-functional MASP-2.

Conclusions:

  • Significant ethnic variations exist in MASP-2 levels and MASP2 gene mutation frequencies.
  • The p.156_159dupCHNH mutation is a key determinant of low MASP-2 levels in Chinese populations.
  • Certain MASP2 variants impact MASP-2 function, highlighting their potential role in immune response modulation across different ethnicities.

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