Abstract
L-ficolin encoded by FCN2 gene is a crucial factor of defence against infection in humans. We studied the prevalence of the two common variants (rs17549193 and rs7851696) in aboriginal and alien populations of the Taymyr-Dolgan-Nenets region of Krasnoyarskiy Kray, East Siberia, Russia (Nenets, Dolgans, Nganasans, Russians). We found a decreased prevalence of the rs17549193*T allele in all aboriginal populations as compared to Russians. Also, its frequency was the lowest in the Nenets among the studied populations, while frequency of the rs7851696*T allele was increased in this population. The results suggest that the Arctic populations of East Siberia are characterised by specificity of genetic make-up responsible for the activity of L-ficolin. Clinical and epidemiological studies are required to discover if these genetic features correlate with the infant infectious morbidity in East Siberian populations.
References
Bjarnadottir H, Arnardottir M, Ludviksson BR (2016) Frequency and distribution of FCN2 and FCN3 functional variants among MBL2 genotypes. Immunogenetics 68:315–325. doi:10.1007/s00251-016-0903-4
Cedzynski M et al (2007) Extremes of L-ficolin concentration in children with recurrent infections are associated with single nucleotide polymorphisms in the FCN2 gene. Clin Exp Immunol 150:99–104. doi:10.1111/j.1365-2249.2007.03471.x
Chalmers JD, Matsushita M, Kilpatrick DC, Hill AT (2015) No strong relationship between components of the lectin pathway of complement and susceptibility to pulmonary tuberculosis. Inflammation 38:1731–1737. doi:10.1007/s10753-015-0150-0
Chapman SJ, Hill AV (2012) Human genetic susceptibility to infectious disease. Nat Rev Genet 13:175–188. doi:10.1038/nrg3114
Gessner BD, Gillingham MB, Birch S, Wood T, Koeller DM (2010) Evidence for an association between infant mortality and a carnitine palmitoyltransferase 1A genetic variant. Pediatrics 126:945–951. doi:10.1542/peds.2010-0687
Hummelshoj T, Munthe-Fog L, Madsen HO, Fujita T, Matsushita M, Garred P (2005) Polymorphisms in the FCN2 gene determine serum variation and function of Ficolin-2. Hum Mol Genet 14:1651–1658. doi:10.1093/hmg/ddi173
Kilpatrick DC, Chalmers JD (2012) Human L-Ficolin (Ficolin-2) and its clinical significance. J Biomed Biotechnol. doi:10.1155/2012/138797
Krarup A, Sorensen UB, Matsushita M, Jensenius JC, Thiel S (2005) Effect of capsulation of opportunistic pathogenic bacteria on binding of the pattern recognition molecules mannan-binding lectin, L-ficolin, and H-ficolin. Infect Immun 73:1052–1060. doi:10.1128/IAI.73.2.1052-1060.2005
McLaren PJ, Fellay J, Telenti A (2013) European genetic diversity and susceptibility to pathogens. Hum Hered 76:187–193. doi:10.1159/000357758
Mishra A et al (2015) Association of ficolin-2 serum levels and FCN2 genetic variants with Indian visceral leishmaniasis. PLoS One 10:e0125940. doi:10.1371/journal.pone.0125940
Munthe-Fog L, Hummelshoj T, Hansen BE, Koch C, Madsen HO, Skjodt K, Garred P (2007) The impact of FCN2 polymorphisms and haplotypes on the ficolin-2 serum levels. Scand J Immunol 65:383–392. doi:10.1111/j.1365-3083.2007.01915.x
Rubicz R et al (2013) Statistical genetic analysis of serological measures of common, chronic infections in Alaska Native participants in the GOCADAN study. Genet Epidemiol 37:751–757. doi:10.1002/gepi.21745
Ruskamp JM et al (2009) Exploring the role of polymorphisms in ficolin genes in respiratory tract infections in children. Clin Exp Immunol 155:433–440. doi:10.1111/j.1365-2249.2008.03844.x
Tereshchenko SY, Smolnikova MV (2016) A pilot study of inherited carnitine palmitoyltransferase deficiency as an ethnogenetic risk factor of infant mortality in indigenous populations of the Far North. Hum Physiol 42:145–149. doi:10.1134/S0362119716020158
Troldborg A, Hansen A, Hansen SW, Jensenius JC, Stengaard-Pedersen K, Thiel S (2017) Lectin complement pathway proteins in healthy individuals. Clin Exp Immunol 188:138–147. doi:10.1111/cei.12909
Vannberg FO, Chapman SJ, Hill AV (2011) Human genetic susceptibility to intracellular pathogens. Immunol Rev 240:105–116. doi:10.1111/j.1600-065X.2010.00996.x
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The study was approved by the ethical committee of the Scientific Research Institute of Medical Problems of the North (# 9 of 8.09.2014). Signed informed consent was obtained from parents of all participated children.
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Russian Foundation for Basic Research, Government of Krasnoyarsk Territory, Krasnoyarsk Region Science and Technology Support Fund to the research project (16-44-240668)
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Smolnikova, M.V., Freidin, M.B. & Tereshchenko, S.Y. The prevalence of the variants of the L-ficolin gene (FCN2) in the arctic populations of East Siberia. Immunogenetics 69, 409–413 (2017). https://doi.org/10.1007/s00251-017-0984-8
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DOI: https://doi.org/10.1007/s00251-017-0984-8