Ficoline-3 and MASP-2 gene variants in siberian arctic populations: SUMMARIZED Evidence of selective pressure for the high frequency of lectin complement pathway deficiency.

UNLABELLED: Herewith, we provide novel original data about the prevalence of FCN3 rs532781899 and MASP2 rs72550870 variants among the newborns of aboriginal Siberian Arctic populations (Nenets and Dolgan-Nganasans) and Russians of East Siberia. This novel data has been analyzed along with the genetic data about other proteins of the lectin pathway of the complement system (mannose-binding lectin and ficolin-2) obtained earlier.

METHODS: A total of 926 specimens of dried blood spots of the newborns were genotyped. The newborns represented four populations: Nenets, Dolgan-Nganasans, Mixed aboriginal population, and Russians (Caucasians) to study the prevalence of single nucleotide polymorphisms of FCN3 rs532781899 and MASP2 rs72550870.

RESULTS: The prevalence of the deletion allele of the rs532781899 variant in the FCN3 gene associated with the decreased production of ficoline-3 was found to be increased in Russians compared to the Nenets aboriginal populations (p = 0.002). The prevalence of the rs72550870*G allele in the MASP2 gene associated with low serum protease activity was found to be increased in Russians compared with Nenets and Dolgan-Nganasans (p < 0.001 and p = 0.03, respectively).

CONCLUSION: The results of the current study and our previous findings corroborate with a hypothesis that human evolution has been directed toward the accumulation of genotypes associated with low activity of the lectin complement activation pathway.