Mannose-binding lectin (MBL) encoded by MBL2 gene is a protein with the ability to form carbohydrate complexes with microbial wall promoting their subsequent elimination. Genetically determined levels of MBL can modify the risk and clinical characteristics of many infectious diseases. The frequency of MBL2 genotypes exhibits significant population differences. The data on the distribution of MBL2 genotypes among the aborigines of the Russian Arctic territories have not yet been published. A total of 880 specimens of dried blood spots of the newborns were genotyped. The newborns represented four populations: Nenets, Dolgan-Nganasans, Mixed aboriginal population, and Russians (Caucasians, Krasnoyarsk). Six polymorphisms of the MBL2 gene were studied: rs11003125, rs7096206, rs7095891, rs5030737, rs1800450, and rs1800451. The frequency of the combined rare O allele (composed of the coding region variants rs5030737, rs1800450, and rs1800451) in the homozygous state was significantly higher in Russians: 10% vs 2% in Nenets and 1% in Dolgan-Nganosans (p < 0.001 for Russians vs other populations). The frequency of the high-producing haplotype (HYPA) was 35.4% in the Russian newborns, in keeping with European populations (27–33%); 64% for Nenets and 56% for Dolgan-Nganasans, similar to the estimates obtained for Eskimos and North Amerinds (64–81%). Our study results are in line with the hypothesis that human evolution has been moving in the direction of accumulation of the genotypes associated with low activity of the lectin complement activation pathway because of the prevalence of some intracellular infections such as tuberculosis, whereby low MBL activity may have a protective effect.

由MBL2基因编码的结合甘露糖的凝集素（MBL）是一种能够与微生物壁形成碳水化合物复合物并促进其后续清除的蛋白质。遗传确定的MBL水平可以改变许多传染病的风险和临床特征。MBL2基因型的频率显示出显着的种群差异。关于俄罗斯北极地区原住民中MBL2基因型分布的数据尚未公布。对880个新生儿的干血斑标本进行了基因分型。新生儿代表四个人口：涅涅茨人，多尔甘-纳甘斯人，原住民混合人口和俄罗斯人（高加索人，克拉斯诺亚尔斯克）。MBL2的六个多态性研究了以下基因：rs11003125，rs7096206，rs7095891，rs5030737，rs1800450和rs1800451。纯合子状态的罕见O基因等位基因组合频率（由编码区域变体rs5030737，rs1800450和rs1800451组成）的频率明显更高：俄罗斯人分别为10％和2％，多尔根-尼加诺斯人为1％（p 对于俄罗斯人与其他人群，<0.001）。在俄罗斯新生儿中，高产单体型（HYPA）的发生率为35.4％，与欧洲人口（27-33％）保持一致；Nenets为64％，Dolgan-Nganasans为56％，与爱斯基摩人和North Amerinds的估计值相似（64-81％）。我们的研究结果符合以下假设：由于某些细胞内感染（如结核病）的流行，人类进化一直朝着与凝集素补体激活途径活性低相关的基因型的积累方向发展。有保护作用。