For the first time in the ethnic group of Abkhazians, the association analysis of polymorphic DNA-markers of the antioxidant genes CAT (rs1001179), MSRA (rs10098474), GPX1 (rs1050450), GSR ...(rs1002149), GSTP1 (rs1695), SOD1 (rs2070424), SOD2 (rs4880), PON1 (rs662), PON2 (rs7493) with age was performed. Using ROC-analysis and logistic regression, it was found that the spectrum of alleles and genotypes frequencies of PON1 and GSTP1 genes polymorphic markers change throughout the studied age period (21-107 years old); the distribution of allele and genotype frequencies of CAT and SOD2 genes polymorphic markers changes within the age of 60 years. Multilocus genetic markers of longevity were determined by the Monte Carlo Markov chain method. Among persons in the age range 60-107 years, the frequency of observation of the patterns GSTP1*G/G+PON1*G (OR=6,59, PFDR=0,018) and GSTP1*G/G+SOD1*A (OR=3,4, PFDR=0,041) is statistically significantly increased; the GSTP1*A allele in various combinations with the PON1*A, PON2*C and CAT*C alleles are less common (OR=0,3, PFDR<0,05).
Influence of the size of iron nanoclusters on their magnetization Kveglis, L.I.; Noskov, F.M.; Kalitova, A.A. ...
Ķaraġandy universitetìnìn̦ habaršysy. Fizika seriâsy/Ķaraġandy universitetìnìņ habaršysy. Fizika seriâsy,
06/2022, Volume:
106, Issue:
2
Journal Article
Peer reviewed
Open access
The size of iron nanocrystals significantly affects the value of their magnetization. However, an adequate model of the structure of nanocrystalline formations comprising different numbers of iron ...atoms still does not exist. In this work, spatial models of nanocrystalline iron clusters differing in configuration and the number of their constituent atoms are constructed. Tetrahedrally close-packed cluster assemblies of iron atoms are taken as the basis for the proposed structures of nanocrystals. The spectra of the density of electronic states for the proposed clusters are constructed using the theory of the electron density functional. The calculation was carried out by the method of scattered waves in accordance with the band theory of crystals. The appearance of magnetization in tetrahedral close-packed cluster formations is associated with excited electronic states of atoms located on the surface of the nanocluster. Excited atoms have an increased electron density, that is, electrons are able to transition to states with higher energy, approaching the Fermi energy. In this case, the Stoner criterion necessary for the occurrence of magnetization is fulfilled. The configurations of electrons with spin up and down differ, which is why uncompensated magnetic moments appear. It is shown that the proposed models of iron nanoclusters are in satisfactory agreement with the known experimental data.
Atherosclerosis, the main factor in the development of coronary heart diseases (CHD), is an inflammatory response to endothelial layer damage in the arterial bed. We have analyzed the association ...between CHD and the polymorphic markers of genes that control the synthesis of proteins involved in the processes of adhesion and chemotaxis of immunocompetent cells: rs1024611 (-2518A>G, CCL2 gene), rs1799864 (V64I, CCR2 gene), rs3732378 (T280M, CX3CR1 gene), rs1136743 (A70V, SAA1 gene), and rs1205 (2042C>T, CRP gene) in 217 patients with CHD and 250 controls. Using the Monte Carlo method and Markov chains (APSampler), we revealed a combination of alleles/genotypes associated with both a reduced and increased risk of CHD. The most significant alleles/genotypes areSAA1*T/T+CRP*C+CX3CR1*G/A (P perm = 0.0056, OR = 0.07 95%CI 0.009-0.55), SAA1*T+CRP*T+CCR2*G/A+CX3CR1*G (P perm = 0.0063, OR = 14.58 95%CI 1.88-113.04), SAA1*T+CCR2*A+CCL2* G/G (P perm = 0.0351, OR = 10.77 95%CI 1.35-85.74).
Allele and genotype frequency distributions of polymorphism rs2076059 (3832T>C) within the SELE gene, rs6131 (S290N), within the SELP gene, rs1131498 (F206L), within the SELL gene, rs5498 (K469E) ...within the ICAM1 gene, rs35569394 (−2549(18)I/D) within the VEGFA gene, and rs1024611 (−2518A>G) within the CCL2 gene were examined in a group of patients after myocardial infarction (MI)(280 individuals) and in a control group (312 individuals). An implementation of the Markov chain and Monte-Carlo method (APSampler) revealed the allele combinations associated with decreased and increased risk of MI. Among these, the most important allele combinations were SELE*C + SELP*S + CCL2*A (FDR = 0.0005; OR = 0.42), SELP*S + CCL2*A (FDR = 0.0009; OR = 0.36), SELL*F + VEGFA*I + CCL2*G/G (FDR = 0.0009; OR = 4.17), VEGFA*I + CCL2*G/G (FDR = 0.0009; OR = 3.76), SELE*C + CCL2*A (FDR = 0.0023; OR = 0.47), and SELL*F + CCL2*G/G (FDR = 0.003; OR = 3.15).
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EMUNI, FIS, FZAB, GEOZS, GIS, IJS, IMTLJ, KILJ, KISLJ, MFDPS, NLZOH, NUK, OBVAL, OILJ, PNG, SAZU, SBCE, SBJE, SBMB, SBNM, UKNU, UL, UM, UPUK, VKSCE, ZAGLJ
Seeking human longevity association with gene polymorphisms in transcription factors in the Tatar ethnic group, we conducted an analysis for age-related genotype frequencies in polymorphic sites of
...FOXO1A
(rs4943794, 72327C>G) and
FOXO3A
(rs3800231, 35-2764A>G) genes. Genotyping was conducted using the PCR-RFLP approach. According to the results of logistic regression analysis, during maturity and old age periods, a decrease in the number of
FOXO1A
*
G
/*
G
(OR = 0.984,
P
= 0.004) genotype carriers occurs and an increase in the number of
FOXO1A
*
C
/*
G
(OR = 1.035,
P
= 0.014) and
FOXO1A
*
C
/*
C
(OR = 1.024,
P
= 0.033) genotype carriers occurs in the sample of subjects before gender adjustments. In the sample of long-livers, the number of
FOXO1A
*
C
/*
C
(OR = 0.772,
P
= 0.028) genotype carriers decreased among women, while the number of
FOXO3A
*
G
/*
G
(OR = 1.008,
P
= 0.0001) genotype carriers increased among both men and women. Therefore, the
FOXO1A
gene polymorphic site rs4943794 is associated with an acquisition of old and senescent age in a sample before gender adjustments and with women’s longevity.
FOXO3A
gene polymorphic site rs3800231 is associated with longevity in both women and men.
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EMUNI, FIS, FZAB, GEOZS, GIS, IJS, IMTLJ, KILJ, KISLJ, MFDPS, NLZOH, NUK, OILJ, PNG, SAZU, SBCE, SBJE, SBMB, SBNM, UKNU, UL, UM, UPUK, VKSCE, ZAGLJ
The
Alu
(
I/D
)
polymorphism of the PLAT
(
TPA
25),
PKHD
1
L
1 (
Yb
8
AC
702),
STK
38
L
(
Ya
5
ac
2145), and
TEAD
1 (
Ya
5
ac
2013) genes was for the first time characterized in an ethnically ...homogeneous group of Tatars living in the Republic of Bashkortostan, and the association of
Alu
(
I/D
) polymorphism in each of the genes with age was established. The study group included 1580 individuals unrelated to each other (21–109 years), including 204 with long lives. The
STK
38
L
*
I/D
genotype is positively associated with longevity in a total group of men and women (
OR
= 1.016,
p
= 0.034). The probability of detection of the
PKHD
1
L
1*
I/I
(
OR
= 1.289,
p
= 0.009),
PLAT
*
D/D
(
OR
= 1.175,
p
= 0.016), and
TEAD
1*
I/I
(
OR
= 1.047,
p
= 0.042) genotypes is increased in women who reached the age of longevity. The
PKHD
1
L
1*
I/D
genotype was significant for reaching the age of longevity in men (
OR
= 1.713,
p
= 0.03). Thus, a character of change in the genotype frequency according to
Alu
(
I/D
) polymorphic sites depending on age is specific for each individual gene.
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EMUNI, FIS, FZAB, GEOZS, GIS, IJS, IMTLJ, KILJ, KISLJ, MFDPS, NLZOH, NUK, OBVAL, OILJ, PNG, SAZU, SBCE, SBJE, SBMB, SBNM, UKNU, UL, UM, UPUK, VKSCE, ZAGLJ
Atherosclerosis represents an inflammatory response to the disturbance of the endothelial layer in the arterial bloodstream. In the present study, an analysis of associations of polymorphic markers ...for the genes controlling synthesis of proteins involved in atherosclerosis pathogenesis in coronary atherosclerosis (CA) patients (217 subjects) and in a control group (250 subjects) was conducted. The following genes were examined: rs991804 (
CCL2
gene), rs1126579 (
CXCR2
gene), rs4074 (
CXCL1
gene), rs4073 (
CXCL8
gene), rs333 (
CCR5
gene), rs2471859 (
CXCR4
gene), rs1801157 (
CXCL12
gene), and rs2569190 (
CD14
gene). Using the Monte Carlo and Markov chain (APSampler) method, allele/genotype combinations associated with both low and high CA risk were revealed. The most important findings included the following:
CXCR4
*T/T +
CCL2
*C +
CCR5
*I/I (
P
perm
= 1 × 10
–6
, OR = 0.44, 95% CI 0.3–0.63),
CXCR2
*C +
CD14
*C +
CXCL12
*G +
CCL2
*C +
CCR5
*D (
P
perm
= 4 × 10
–6
, OR = 5.78, 95% CI 2.34–14.28),
CD14
*C +
CCL2
*C/C +
CCR5
*D (
P
perm
= 6.3 × 10
–6
, OR = 5.81, 95% CI 2.17–15.56),
CXCL8
*A +
CXCR2
*C +
CD14
*T +
CXCR4
*C (
P
perm
= 0.01, OR = 3.21, 95% CI 1.63–6.31).
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EMUNI, FIS, FZAB, GEOZS, GIS, IJS, IMTLJ, KILJ, KISLJ, MFDPS, NLZOH, NUK, OILJ, PNG, SAZU, SBCE, SBJE, SBMB, SBNM, UKNU, UL, UM, UPUK, VKSCE, ZAGLJ
Objective
. To investigate the molecular mechanism underlying genetic susceptibility to essential hypertension (EH) using polygenic analysis of renin-angiotensin-aldosterone system (RAAS).
Design and ...methods.
Genotyping of renin (REN, rs2368564), angiotensinogen (AGT, rs4762), angiotensin II receptor type 1 (AGTR1, rs5186), chymase 1 (CMA1, rs1800875) and angiotensin-converting enzyme (ACE, rs1799752) polymorphic variants was performed in 346 patients with EH and 377 controls, Russians and Tatars by ethnic origin.
Results
. ACE rs1799752polymorphism was significantly associated with EH risk in Tatars (P
Bonf
= 0,003) and in the total study group (P
Bonf
= 4,09 x 10
–5
). Polygenic approach identified 12 genotypes and/or alleles combinations of RAAS genes polymorphisms, significantly associated with EH in the Tatars, and 6 patterns associated with EH in the total study group. The highest risk of disease in Tatar men was associated with REN rs2368564*T + AGTR1 rs5186*C/A + ACE rs1799752*D combination (OR = 16,64, P
Bonf
= 0,001), in the total group — with REN rs2368564*T/C + CMA1 rs1800875*G combination (OR = 2,37, P
Bonf
= 0,045).
Conclusions
. Our findings indicate that EH risk in men of Russian and Tatar ethnicity is significantly associated with ACE rs1799752 polymorphism, and the results of polygenic analysis demonstrate an association of the disease risk with genotype/allele combinations of polymorphic variants in REN (rs2368564), AGTR1 (rs5186), ACE (rs1799752), and CMA1 (rs1800875) genes.
The allele and genotype frequency distribution at polymorphic loci rs3892097 (184G>A) of
CYP2D6
gene, rs776746 (6986A>G) of the
CYP3A5
gene and rs2740574 (−392A>G) of the
CYP3A4
gene in Russians, ...Tatars, and Bashkirs was examined. Samples were taken from residents of Bashkortostan Republic (1240 men and women aged from 20 to 109 years and consisted of 443 Russians, 517 Tatars, and 280 Bashkirs). Allele identification was conducted using PCR-RFLP or PCR with TaqMan probes. The “nonfunctional” allele rs3892097*A of the
CYP2D6
gene was detected in populations of Russians, Tatars, and Bashkirs in 17.2, 9.5, and 7.1% cases, respectively. The rs776746*G allele of the
CYP3A5
gene encoding the CYP3A5 isoenzyme with decreased activity was revealed with a frequency of 94.6% in populations of Russians, 94.3% in the Tatar population, and 91.5% in the Bashkir population. The share of the minor allele rs2740574*G of the
CYP3A4
was 4.0% in populations of Russians, 0.5% in the Tatar population, and 0.9% in the Bashkir population. It has been previously shown that the rs3892097*A, rs776746*G, and rs2740574*G allele frequencies vary significantly in different world populations. Since allele variants of
CYP2D6
,
CYP3A5
, and
CYP3A4
genes can play essential role in interindividual and in interethnic differences in the metabolism of many therapeutic agents, the obtained results could be used in the prognosis of pharmacotherapy efficacy in populations of Russians, Tatars, and Bashkirs.
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EMUNI, FIS, FZAB, GEOZS, GIS, IJS, IMTLJ, KILJ, KISLJ, MFDPS, NLZOH, NUK, OILJ, PNG, SAZU, SBCE, SBJE, SBMB, SBNM, UKNU, UL, UM, UPUK, VKSCE, ZAGLJ
The aim of this study was to investigate the associations between the polymorphic loci in the JAK/STAT signaling pathway and the aging processes and longevity in the populations of ethnic Tatars. For ...this aim, we analyzed the age dynamics of genotype frequencies of the
JAK1
(32454C>T, rs310216),
JAK3
(14385C>T, rs3212780),
STAT1
(14228A>C, rs12693591),
STAT3
(19006G>C, rs2293152), and
STAT5A
(1985T>C, rs9889323) genes. Using logistic regression analysis, we discovered the association of these polymorphic loci with advanced age. In the general study group, the probability of the
JAK1
*C/*Т genotype was higher among persons of advanced age (69–80 years old,
p
= 0.031, OR = 1.070). In turn, the chance to reach advanced age was lower among the carriers of the
JAK1
*Т/*Т (58–82 years old,
p
= 0.014, OR = 0.958) and
STAT5A
*T/*T (46–109 years old,
p
< 0.001, OR = 0.979) genotypes. The probability of attaining longevity was higher among men with the
STAT3
*С/*С genotype (25–98 years old,
p
= 0.027, OR = 1.016) and was lower among men with the
STAT3
*G/*С genotype (73–98 years old,
p
= 0.044, OR = 0.950). In the group of women, the probability to reach 80 years of age and over was higher among carriers of the
JAK3
*Т/*С (48–81 years old,
p
= 0.046, OR = 1.024),
STAT1
*С/*A (61–88 years old,
p
= 0.041, OR = 1.035), and
STAT5A
*T/*C (46–82 years old,
p
< 0.0001, OR = 1.044) genotypes. In turn, among middle age women with the
STAT1
*С/*С genotype, the probability to attain longevity was lower (55–109 years old,
p
= 0.013, OR = 0.980).
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EMUNI, FIS, FZAB, GEOZS, GIS, IJS, IMTLJ, KILJ, KISLJ, MFDPS, NLZOH, NUK, OILJ, PNG, SAZU, SBCE, SBJE, SBMB, SBNM, UKNU, UL, UM, UPUK, VKSCE, ZAGLJ
