Study of the association of gene polymorphism with the risk of non-communicable diseases in martial artists

Objective: to study the effect of genetic polymorphisms: rs rs9939609 (FTO gene), rs4994 (ADRB3 gene), rs1042713 (ADRB2 gene), rs2228570 (VDR gene), rs1801133 (MTHFR gene) on anthropometric and lipid metabolism indicators in athletes representing martial arts.Materials and methods: studies of anthropometric and biochemical parameters, genetic polymorphisms were carried out in 120 athletes (101 men and 19 women) who are engaged in martial arts. Anthropometric studies were performed by measuring height (cm), body weight (kg), followed by calculating body mass index (BMI, kg / m2). Biochemical nutritional status markers were determined using the ABX Pentra 400 analyzer (HORIBA ABX SAS, France) in an automatic mode. Genotyping was performed using allelespecific amplification using TaqMan probes complementary to polymorphic DNA regions and realtime detection of the results using reagent kits from Syntol, Russia. Studies were performed on the device CFX96 Real Time System (BioRad, USA). Statistical processing of the results was performed using the PASW Statistics 20 system.Results: as a result of generic Diovan athletes martial artists on the risk of noncommunicable diseases, discovered that the frequency of allele A of rs9939609 polymorphism of the FTO gene they have is 43.9 %, allele polymorphism rs4994 ADRB3 gene — 10.9 %, G allele of rs1042713 ADRB2 gene polymorphism — 52.6 %, G allele of the polymorphism rs2228570 VDR gene with 44.9 % and allele t of rs1801133 in the MTHFR gene to 36.7 %. An association was found between the value of anthropometric indicators in male martial artists and the presence of polymorphisms rs9939609 (FTO), rs1042713 (ADRB2) and rs2228570 (VDR).Conclusions: the reason for the identified dyslipidemia in martial artists may be not only the previously detected violations of the structure of their nutrition, but also the presence of certain genetic polymorphisms, in particular, rs4994 of the ADRB3 gene and rs1042713 of the ADRB2 gene.

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Analysis haemostatic system gene polymorphism in pregnant women without complications from Russia and Ukraine

Ecological genetics ◽

10.17816/ecogen9170-80 ◽

2011 ◽

Vol 9 (1) ◽

pp. 70-80

Author(s):

Elena S Vashukova ◽

Andrey S Glotov ◽

Maria D Kanaeva ◽

Lubov B Polushkina ◽

Nadezhda A Shabanova ◽

...

Keyword(s):

Gene Polymorphism ◽

Pregnant Women ◽

Genetic Polymorphisms ◽

Mthfr Gene ◽

Elevated Risk ◽

Complex Approach ◽

Mthfr Gene Polymorphism ◽

Relative Score ◽

Variable Distribution

Polymorphism of F5 1691G>A, F2 20210G>A, FGB –455G>A, ITGB3 1565Т>С, PAI1 –675 5G>4G, MTHFR 677C>Т genes in pregnant women from Russia and Ukraine was studied by biochip methods. No differences in distribution of F5, F2 and ITGβ3 gene polymorphism were detected. Higher rates of –455G/A FGB and –675 5G/4G PAI1 genotypes in ukrainians compared to pregnant women from Russia were found. Also variable distribution of MTHFR gene polymorphism in women from different countries was registered. The complex approach based on the calculation of relative “score” as a sum of relevant genetic polymorphisms has detected somewhat elevated risk of trombophilia for pregnant women from Ukraine compared to this one from Russia.

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Evaluation of an association of the rs1801133 MTHFR gene polymorphism with folic acid deficiency in obese patients

Almanac of Clinical Medicine ◽

10.18786/2072-0505-2018-46-3-254-257 ◽

2018 ◽

Vol 46 (3) ◽

pp. 254-257 ◽

Cited By ~ 1

Author(s):

A. V. Pogozheva ◽

E. Yu. Sorokina ◽

T. V. Aristarkhova

Keyword(s):

Folic Acid ◽

Gene Polymorphism ◽

Mthfr Gene ◽

Overweight And Obesity ◽

Moscow Region ◽

Folic Acid Deficiency ◽

Obese People ◽

Real Time System ◽

Mthfr Gene Polymorphism ◽

Acid Deficiency

Background: The use of molecular genetic technologies has made it possible to show that the genetic factor plays a significant role in the development of obesity. In addition, in obese people the supply with vitamins, in particular with folic acid, is largely controlled genetically.Aim: To study an association of the rs1801133 polymorphism of the MTHFR gene with folic acid deficiency in the residents of the Moscow region depending on their body mass index.Materials and methods: rs1801133 polymorphisms were identified in 326 subjects (74 male and 252 female) aged from 20 to 65 years, living in the Moscow region. The DNA was isolated from blood by the sorption on silica gel-coated magnetic particles. DNA was isolated with the use of the epMotion 5075 automatic station (Eppendorf, Germany). To identify the polymorphism, a polymerase chain reaction was used, followed by cleavage of the Hinf1 restriction endonuclease products, with analysis of these products by gel electrophoresis. The equipment CFX96 Real Time System (BIO-RAD, USA) was used. Folic acid was measured by ID-Vit® Folic Acid test system (R-Biopharm, Germany).Results: According to the results of folic acid measurements in blood, a deficiency of this vitamin was found in 24.2% of the studied residents of the Moscow region. Analysis of the genotyping results did not show any association of the rs1801133 MTHFR gene polymorphism with the serum levels of folic acid. However, in the subjects with overweight and obesity, there was a statistically significant association between the T allele of the rs1801133 of the MTHFR gene polymorphism and a low level of folic acid (odds ratio 2.5, 95% confidence interval 1.09–5.74, p = 0.03).Conclusion: The rs1801133 polymorphism of the MTHFR gene significantly contributes to the development of folic acid deficiency in overweight and obese individuals.

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Associations between obesity and vitamin D availability depending on the rs2228570 polymorphism of the VDR gene and rs9939609 polymorphism of the FTO gene in the midland and the Extreme North of Russia

Almanac of Clinical Medicine ◽

10.18786/2072-0505-2019-47-015 ◽

2019 ◽

Vol 47 (2) ◽

pp. 112-119

Author(s):

A. V. Pogozheva ◽

E. Yu. Sorokina ◽

A. A. Sokolnikov

Keyword(s):

Vitamin D ◽

Vitamin D Deficiency ◽

Real Time ◽

Indigenous Population ◽

Receptor Gene ◽

The Body ◽

Fto Gene ◽

Vdr Gene ◽

Real Time System ◽

Far North

Background: It has been shown that vitamin D availability depends on the body mass index (BMI). Genetic polymorphisms contribute to the development of vitamin D deficiency.Aim: To study the availability of vitamin D in the population of various regions of the Russian Federation, depending on the BMI values and the rs2228570 polymorphisms of the VDR gene and rs9939609 of the FTO gene.Materials and methods: The rs2228570 polymorphisms of the VDR gene and rs9939609 of the FTO gene were identified in 311 subjects (136, from the midland of Russia, and 175 from the Far North). Serum 25-hydroxyvitamin D [25(OH)D] levels were measured by an immunoenzyme assay in the autumn and winter seasons. Genotyping was performed with the allele-specific amplification and real-time detection of results using TaqMan probes complementary to the polymorphic DNA segments and the CFX96 Real Time System amplifier (Bio-Rad, USA). We studied associations of the rs9939609 polymorphism of the fat mass and obesity-associated (FTO) gene located at 16q12.2, as well as the rs2228570 polymorphism of the vitamin D receptor gene (VDR) located at 12q13.11.Results: Frank vitamin D deficiency (serum 25 (OH) D level<20 ng/ml) was observed in 39.7% (54/136) of the sample from the midland, in 40% (14/35) of the migrants and in 30.7% (43/140) of the indigenous inhabitants of the Far North (Nenets). Obese residents of the midland Russia had significantly lower serum 25(OH)D levels, and the indigenous population of the Far North had significantly higher levels than those with BMI<30 (р<0.05). In the indigenous population of the Northern Region, there was a significant association between vitamin D deficiency and C allele of the rs2228570 polymorphism of the VDR gene (odds ratio [OR] 2.5, 95% confidence interval [CI] 1.46–4.27, p=0.0006) and the AA genotype of the rs9939609 polymorphism of the FTO gene (OR 8.83, 95% CI 0.94–82.5, p=0.02).Conclusion: The association between obesity and vitamin D availability in the individuals with the rs2228570 polymorphism of the VDR gene and the rs9939609 polymorphism of the FTO gene depends on their ethnicity.

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