Allele frequency distributions of -174G/C polymorphism in regulatory region of interleukin 6 gene (IL6) in Russian and worldwide populations

Borinskaya, S. A.; Gureev, A. S.; Орлова, А. А.; Sanina, E. D.; Kim, A. A.; Gasemianrodsari, F.; Shirmanov, V. I.; Balanovsky, O. P.; Rebrikov, Denis V.; Koshechkin, A. V.; Yankovsky, N. K.

doi:10.1134/s1022795413010031

Cited by 12 publications

(7 citation statements)

References 76 publications

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“…There were no significant differences in the genotype frequencies between Portuguese [23] and Chinese [24] patients with SLE either. Probably such differences could be explained with population variations [25]. In our study, no marked increase of the GC genotype was observed among the controls but such elevation was earlier found among Egyptian [20] and Malaysian [21] controls.…”

Section: Discussioncontrasting

confidence: 43%

Role of the Promoter Polymorphism IL-6 −174G/C in Dermatomyositis and Systemic Lupus Erythematosus

Hristova

Dourmishev

Kamenarska

et al. 2013

BioMed Research International

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The promoter polymorphism −174G/C within the interleukin-6 gene (IL-6) has been reported to have a functional importance through the modulation of IL-6 gene expression in vitro and in vivo. IL-6 is thought to play an important role in autoimmune diseases and the effect of its receptor inhibitor—tocilizumab—has been recently studied. The aim of this case-control study was to investigate the association between the interleukin-6 −174G/C single nucleotide polymorphism and the susceptibility to dermatomyositis (DM) and systemic lupus erythematosus (SLE) in Bulgarian patients. Altogether, 87 patients—52 with SLE and 35 with DM—as well as 80 unrelated healthy controls were included in this study. All of them were analyzed by restriction fragment length polymorphism analysis (RFLP). The GG genotype and the G allele appeared to be associated with SLE, especially in women. None of the genotypes showed an association with DM. However, the G allele appeared to be associated with muscle weakness and it is a risk factor for elevated muscle enzymes. Our results indicate that IL-6 −174G/C polymorphism might be associated with the susceptibility to SLE especially in women. Although it is not associated with DM, it seems that IL-6 −174G/C polymorphism could modulate some clinical features in the autoimmune myopathies.

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Section: Discussioncontrasting

confidence: 43%

Role of the Promoter Polymorphism IL-6 −174G/C in Dermatomyositis and Systemic Lupus Erythematosus

Hristova

Dourmishev

Kamenarska

et al. 2013

BioMed Research International

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“…In the populations of Europe, it is lower -up to the predominance of the allelic variant -174С of the gene IL6, which is "responsible" for the reduced production of the pro-inflammatory cytokine [35]. S.A. Borinskaya et al [34] suggested that in European populations, a decrease in the frequency of the IL6-174G allele was the result of adaptation to new living conditions: a temperate climate with a reduced load of pathogens, that is, with a decrease in selection pressure. There is a similar geographic distribution of the IL6-572C allele, determining the high level of transcription of the gene.…”

Section: Resultsmentioning

confidence: 99%

“…Based on the publication of summary pathogen load indices calculated from historical data for nine infectious diseases (leishmaniasis, trypanosomiasis, malaria, schistosomiasis, filariasis, leprosy, dengue, typhoid, and tuberculosis) [42], S.A. Borinskaya et al [34] found that the frequency of the IL6-174G, which determines high-level protein expression and a strong inflammatory response, positively correlates with the pathogen load index. Probably, in the process of human settlement from the African continent to Asia, both options IL6: -174G and -572C-had adaptive advantages.…”

Section: Resultsmentioning

confidence: 99%

“…Knowledge of the nature of the geographical distribution of alleles IL6 -174G and IL6 -572C is important for understanding the process of formation of population gene pools and the influence of the adaptive value of alleles on it in various living conditions [34]. Environmental changes associated with the departure from the traditional way of life, as well as the anthropogenic impact on nature, can modulate the adaptive significance of alleles, in connection with which population studies in this area become especially relevant.…”

mentioning

confidence: 99%

“…Environmental changes associated with the departure from the traditional way of life, as well as the anthropogenic impact on nature, can modulate the adaptive significance of alleles, in connection with which population studies in this area become especially relevant. Currently, a large amount of knowledge has been accumulated on the distribution of polymorphic variants of the IL6 gene in different countries and among different ethnic groups, including Russia [34][35][36][37][38]. However, for the indigenous populations of Siberia, this issue is poorly understood.…”

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confidence: 99%

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Increased Frequencies of the ‒174G and ‒572C IL6 Alleles in Populations of Indigenous Peoples of Siberia Compared to Russians

et al. 2023

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—The study of immune response and inflammation gene polymorphisms in a genogeographic context is relevant in the study of human populations. Here, in the indigenous populations of Siberia the frequencies of polymorphic variants ‒ 174G/C (rs1800795) and ‒572C/G (rs1800796) of the IL6 gene encoding the proinflammatory cytokine IL-6 were determined. For the first time, it was shown that the frequencies of the ‒174G and ‒572C alleles, which determine increased inflammatory response and are also associated with several diseases were statistically significantly higher in ethnic groups of Buryats, Teleuts, Yakuts, Dolgans and Tuvinians than in Russians living in Siberia. These values were in the intermediate position between those in the European and East-Asian groups. We hypothesize an adaptive role of these IL6 genetic variants in human settlement from Africa to the Eurasian continent. However, due to the departure from the traditional way of life and the increasing anthropogenic environmental pollution, the risk of diseases whose pathogenesis is based on inflammation in indigenous Siberian populations is likely increased.

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

et al. 2016

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Prolonged unaccustomed exercise involving muscle lengthening (eccentric) actions can result in ultrastructural muscle disruption, impaired excitation–contraction coupling, inflammation and muscle protein degradation. This process is associated with delayed onset muscle soreness and is referred to as exercise-induced muscle damage. Although a certain amount of muscle damage may be necessary for adaptation to occur, excessive damage or inadequate recovery from exercise-induced muscle damage can increase injury risk, particularly in older individuals, who experience more damage and require longer to recover from muscle damaging exercise than younger adults. Furthermore, it is apparent that inter-individual variation exists in the response to exercise-induced muscle damage, and there is evidence that genetic variability may play a key role. Although this area of research is in its infancy, certain gene variations, or polymorphisms have been associated with exercise-induced muscle damage (i.e. individuals with certain genotypes experience greater muscle damage, and require longer recovery, following strenuous exercise). These polymorphisms include ACTN3 (R577X, rs1815739), TNF (−308 G>A, rs1800629), IL6 (−174 G>C, rs1800795), and IGF2 (ApaI, 17200 G>A, rs680). Knowing how someone is likely to respond to a particular type of exercise could help coaches/practitioners individualise the exercise training of their athletes/patients, thus maximising recovery and adaptation, while reducing overload-associated injury risk. The purpose of this review is to provide a critical analysis of the literature concerning gene polymorphisms associated with exercise-induced muscle damage, both in young and older individuals, and to highlight the potential mechanisms underpinning these associations, thus providing a better understanding of exercise-induced muscle damage.

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Allele frequency distributions of -174G/C polymorphism in regulatory region of interleukin 6 gene (IL6) in Russian and worldwide populations

Cited by 12 publications

References 76 publications

Role of the Promoter Polymorphism IL-6 −174G/C in Dermatomyositis and Systemic Lupus Erythematosus

Role of the Promoter Polymorphism IL-6 −174G/C in Dermatomyositis and Systemic Lupus Erythematosus

Increased Frequencies of the ‒174G and ‒572C IL6 Alleles in Populations of Indigenous Peoples of Siberia Compared to Russians

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

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