Lectin pathway proteins deficiency of the complement system activation in the Arctic population


Introduction. The genetically determined defects in the lectin pathway of the complement system activation have various clinical consequences for a particular individual. The hypothesis of lectin pathway redundancy suggests that it is not required for the normal functioning of the immune system in modern humans other than early childhood.

The aim of the study was to analyze the prevalence of polymorphic variants FCN3 and MASP2 among newborns of the Siberian Arctic populations (Nenets and Dolgans-Nganasans) and Russians of Eastern Siberia along with genetic data on the frequency of genotypes and haplotypes for the genes of other lectin pathway proteins of the complement system (MBL and L-ficolin).

Material and methods. DNA samples from newborns represented by three populations, i.e. Nenets, Dolgans-Nganasans and Russians (Caucasoids) analyzed by RT-PCR.

Results. The prevalence of the del rs532781899 FCN3 variant, which associated with reduced production of H-ficolin, was found to be increased in Russians compared to the aboriginal population of the Nenets (p = 0.002). The G rs72550870 MASP2 allele, which associated with low activity of the serum protease MASP-2, is increased in Russians compared to the Nenets and Dolgans-Nganasans (p < 0.001 and p = 0.03, respectively). The deficient variant of the MBL2 haplotype is more common in Russians than in other populations (p < 0.001).

Conclusion. The results of our studies have confirmed a hypothesis that human evolution in populations with historically higher hygienic and medical protection at an early age was aimed at accumulating the genotypes associated with low lectin pathway activity of complement activation.

Keywords:lectin pathway; complement; lectins; ficolins; serine proteases; MBL; FCN; MASP; gene polymorphism; Arctic populations

For citation: Smolnikova M.V., Tereshchenko S.Yu. Lectin pathway proteins deficiency of the complement system activation in the Arctic population. Immunologiya. 2023; 44 (4): 455–62. DOI: https://doi.org/10.33029/0206-4952-2023-44-4-455-462 (in Russian)

Funding. The study was supported within the framework of the state budgetary theme for Federal Research Center «Krasnoyarsk Science Center of the Siberian Branch of the Russian Academy of Sciences», Research Institute of Medical Problems of the North, Krasnoyarsk, Russian Federation

Conflict of interests. The authors declare no conflict of interests.

Authors’ contribution. Study conception, statistical analysis, text writing and editing – Tereshchenko S.Yu., Smolnikova M.V.; collection and processing of material – Smolnikova M.V.


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Musa R. Khaitov

Corresponding member of Russian Academy of Sciences, MD, Professor, Director of the NRC Institute of Immunology FMBA of Russia