Распределение частот аллелей по полиморфизму –174G/Cрегуляторного участка гена интерлейкина 6 (IL6) в населении России и мира

Abstract

Allele and genotype frequencies of the -174G/C polymorphism (rs1800795) in the regulatory region of the IL6 gene, which encode anti-inflammatory cytokine interleukin 6, were determined in seven populations representing five ethnic groups from the European part of Russia (440 individuals), as well as in small cohorts that represent populations from 24 countries of Africa and Eurasia (365 individuals). The maps of the geographic distribution of the -174G/C allele frequencies were constructed based on personal (22 populations) and the literature data (66 populations), and the data from dbSNP database obtained by the HapMap project (10 populations). The frequency of the -174G allele varied from 45 to 100% and was characterized by nonrandom geographic distribution. These data could reflect the adaptive load of the alleles examined, which was different in different regions of the world. It is suggested that the level of pathogen prevalence is one of the environmental factors that determine different adaptive values of the IL6*--174G/C alleles. This suggestion is supported by a positive correlation between the -174G allele frequency and level of pathogen prevalence calculated based on historical data (R = 0.768; p < 0.0001).

Genetic variation and exercise-induced muscle damage: implications for athletic performance, injury and ageing

“…A functional −174 G>C SNP (rs1800795) has been detected in the promoter region of the IL6 gene. The frequency distribution of the G-allele ranges between 45 and 100 % in the worldwide population (Borinskaya et al 2013 ) and it is associated with an increased plasma IL-6 response in healthy people (Bennermo et al 2004 ; Fishman et al 1998 ; Pereira et al 2011 ). The −174 G-allele might affect the glucocorticoid receptor and elevate the transcriptional activation due to its close positioning with the receptor (Yamin et al 2008 ; Rein et al 1995 ).…”