AG Carriers Research Articles

Association of Reduced Folate Carrier G80A Polymorphism With Lung Cancer Susceptibility in a Hypertensive Population: A Nested Case-Control Study.

Polymorphisms of the folate-associated 1-carbon metabolism (OCM) pathway genes may regulate certain susceptibilities to cancer. G80A, a polymorphism in the reduced folate carrier (RFC) gene, may be associated with cancer risk, although the results obtained from previous studies have been inconsistent. This study aimed to evaluate the association of G80A with lung cancer among a Chinese population and to examine the potential effect modifiers. A nested, case-control study was performed in a population from the China H-type Hypertension Registry Study (CHHRS), in which 492 cases of lung cancer incidence and 1:1 matched controls were enrolled. RFC G80A variants were genotyped, and a series of metabolites in the OCM metabolic pathway were detected. Conditional logistic regression was used to model the association between this variant and lung cancer. After adjusting for potential confounders, compared with GG carriers, AG carriers showed a trend of increased lung cancer risk [adjusted odds ratio (OR): 1.37; 95% CI: 0.97, 1.94], and AA carriers showed a significantly increased risk (adjusted OR: 1.86; 95% CI: 1.16, 2.97; P = 0.010; P-trend = 0.009). In subsequent stratification analyses, a significant interaction effect from the pronounced risk-enhancing effect of the 80AA/GG genotypes was observed in participants with lower baseline serum methionine concentrations (<4.6 μg/mL-adjusted OR: 2.63; 95% CI: 1.40, 4.96; compared with ≥4.6 μg/mL-adjusted OR: 1.17; 95% CI: 0.82, 1.66; P-interaction = 0.030). Taken together, these findings suggest that RFC G80A may influence the susceptibility of lung cancer and may also be a potential biomarker for lung cancer prevention.

Potassium inwardly-rectifying channel subfamily J member 11 (KCNJ11) gene polymorphism in Egyptian type 2 diabetic patients: a single-center study.

The KCNJ11 gene belongs to the potassium channel gene family. It has a major role inthe secretion of insulin. Genetic variations in KCNJ11 are possibly responsible for the progression of type 2 diabetes mellitus (T2DM). In this study, we investigated the possible correlation between KCNJ11 (rs5210) gene polymorphism and T2DM. This study included 92 individuals divided into two groups. Group 1 included 46 type 2 diabetic patients. Group 2 (control group) included 46 healthy participants. A complete history was taken and a full physical examination was performed. Anthropometric data were measured. Laboratory investigations included fasting blood glucose (FBG), two hours post-prandial blood glucose (2HPPBG), glycated hemoglobin (HbA1c), and fasting lipid profile. KCNJ11 (rs5210) single nucleotide polymorphism was detected by polymerase chain reaction restriction-fragment length polymorphism (PCR-RFLP). Both AG and GG genotypes were associated with increased risk for T2DM (OR 5.2, 95% CI 1.32-20.5, P = 0.01 for AG; and OR 18.2, 95% CI 2.99-31.7, P = 0.002 for GG). Also, the frequency of the G allele was significantly higher in type 2 diabetic patients compared to healthy controls (50% versus 23.9%, respectively). The G allele of rs5210 in KCNJ11 contributed to an increased risk of T2DM (OR 3.18, 95% CI 1.31-7.75, P = 0.01). There was a statistically significant association between increased 2HPPBG and HbA1c levels and the carrier of AG and GG genotypes (P = 0.01 and 0.007, respectively). There was a statistically significant association between total cholesterol(TC), low-density lipoprotein-cholesterol (LDL-c), and high-density lipoprotein-cholesterol (HDL-c) levels and the carrier of AG and GG genotypes (P < 0.001, 0.02, and 0.007, respectively). Regression analysis detected that body mass index (BMI), 2HPPBG, TC, triglycerides (TG), and the G allele of rs5210 in KCNJ11 gene showed a significant association with T2DM (P = 0.004, 0.042, 0.003, 0.006, and 0.01, respectively) while no association was observed with FBG, HbA1c, LDL-c or HDL-c (P = 0.099, 0.123, 0.522, and 0.765, respectively). KCNJ11 rs5210 genetic polymorphism may raise the risk for the occurrence ofT2DM among Egyptians.

LA-ICP-MS trace element study of sulphides from the Djurkovo Pb-Zn deposit, Central Rhodopes: Preliminary data

Mineralogical and geochemical LA-ICP-MS trace element study was conducted on sulphides from the Djurkovo Pb-Zn deposit, Central Rhodopes. The studied ore mineralization consists mainly of sphalerite, galena, pyrite, and chalcopyrite precipitated in three mineral parageneses, part of the main polymetallic and quartz-carbonate stages as it is indicated by the textural relationships. The first paragenesis is developed as massive metasomatic replacement occurring in the marble horizons and consisting of sphalerite, galena, and chalcopyrite. The second para­genesis represents later veins composed mainly of quartz, pyrite, galena, and sphalerite crosscutting the metasomatic bodies. The third paragenesis represents late thin carbonate veins with translucent greenish sphalerite (cleiophane) and pyrite/marcasite aggregations, parts of the quartz-carbonate stage. The trace element signatures of the studied sphalerites indicate incorporation of Fe, Cd, Mn, Cu, Co, In, and Hg. Important elements in pyrites are Co, As, Pb, Mn, and Se. Chalcopyrite is the main carrier of Ag among the studied sulphides. The latest pyrite/marcasite aggregations show significant incorporations of As, Sb, and Tl.

Association of polymorphic variants of the GSTP1 and GSTM1 genes with signs of tunnel syndromes in patients with vibration disease (pilot study)

Introduction. The data on the association between GSTs gene variants and the risk of developing carpal tunnel syndrome (CTS) determine the feasibility of studying the relationship with changes in the nerve structure of the upper limbs identified by ultrasound examination in patients with vibration disease (VD). The aim of the study was to investigate the association of polymorphic variants of the GSTP1 and GSTM1 genes with signs of tunnel syndromes in VD patients. Materials and methods. Polymorphic variants of the GSTP1 (rs1695 and rs1138272) and GSTM1 genes in one hundred forty male VD patients were studied using PCR-RT method. High-resolution ultrasonography parameters were used to evaluate the morphological structure of the peripheral nerves of the upper limbs in patients, including the cross-sectional area (CSA) of the peripheral nerves. Results. A significant gain in CSA maximum of the median nerve was found in carriers of the GSTM1–/– genotype relative to those in the GSTM1+ polymorphic variant of the GSTM1 gene (p=0.014). At the same time, AG-GSTP1 (Ile105Val) heterozygote carriers were less resistant to vibration exposure compared to the AA homozygote ones. The AG carriers had a shorter period of vibration exposure (p=0.017), which was observed against the background of a pronounced tendency to a decrease in the period of vibration exposure at the time of VD diagnosis (p=0.034). Limitations. Limitations include the small number of examined patients and the analysis of associations of polymorphic variants of GSTs genes only with CSA values without taking into account the clinical and functional status of patients. Conclusion. The results obtained indicate that GSTs genes involved in protection against oxidative stress, may be associated with the development of CTS in VD patients. Further investigations are needed involving a larger number of VD patients with simultaneous analysis of the morphological structure of peripheral nerves, as well as of electrophysiological and clinical studies.

Polymorphism in SNP G1 of the GDF9 gene associated with reproductive traits in Bulgarian dairy sheep

The Bulgarian Dairy Synthetic Population (BDSP) is the most numerous sheep breed in the country with a fertility of about 150%. Fertility in sheep is mainly determined by several major genes known as fecundity genes (Fec), one of which is GDF9 (growth differentiating factor 9). The aim of this study was to analyze the association of the GDF9 gene polymorphism at SNP G1 with litter size depending on age and birth type in BDSP ewes. The analysis included 163 sheep in which a 462 bp fragment of exon 1 of the GDF9 gene was amplified and subsequently cut with the restriction enzyme HhaI. As a result, two alleles were established: the wild-type G (with a frequency of 0.76) and the mutant A (with a frequency of 0.24), as well as the three possible genotypes AA, AG and GG with frequencies of 0.06, 0.35 and 0.59, respectively. There was no statistically significant difference in litter size between different genotypes at SNP G1. Significant differences were found in the litter size of the 2nd lambing (1.52) compared to the 4th lambing ewes (1.77), and in the single-born ewes (1.56) compared to ewes born as twins (1.70) (p ≤ 0.05). Proven higher fertility was observed in ewes born as twins with genotype AA (1.97) compared to twins born as carriers of heterozygous genotype AG (1.65) (p ≤ 0.05).

Altered levels of IFN-γ, IL-4, and IL-5 depend on the TLR4 rs4986790 genotype in COPD smokers but not those exposed to biomass-burning smoke.

Chronic obstructive pulmonary disease (COPD) is associated with tobacco smoking and biomass-burning smoke exposure. Toll-like receptor 4 (TLR4) single-nucleotide polymorphisms (SNPs) may contribute to its pathogenesis. The study aimed to assess the association of rs4986790 and rs4986791 in the TLR4 gene in a Mexican mestizo population with COPD secondary to tobacco smoking (COPD-TS) and biomass-burning smoke (COPD-BBS) and to evaluate whether the genotypes of risk affect cytokine serum levels. We enrolled 2,092 participants and divided them into two comparisons according to their environmental exposure. SNPs were genotyped using TaqMan probes. Serum cytokine levels (IL-4, IL-5, IL-6, IL-10, and INF-γ) were quantified by ELISA. The rs4986790 AA genotype in COPD-TS was associated with a higher COPD risk (OR = 3.53). Haplotype analysis confirmed this association, identifying a block containing the rs4986790 allele (A-C, OR = 3.11). COPD-TS exhibited elevated IL-6, IL-4, and IL-5 levels compared with smokers without COPD (SWOC), whereas COPD-BBS displayed higher IFN-γ, IL-6, and IL-10 levels. The AA carriers in the COPD-TS group had elevated IL-4, IL-5, and IFN-γ compared with carriers of AG or GG. The rs4986790 common allele and the A-C haplotype (rs4986790-rs4986791) were associated with a higher COPD risk in smokers; COPD patients carrying the AA genotype showed increased pro-inflammatory cytokines.

Trace and minor elements in the ore minerals: An assessment of geochemical distribution in overprinting epithermal on porphyry mineralization at Chodarchay, NW Iran

The Chodarchay overprinting epithermal on porphyry mineralization occurs in the Tarom-Hashtjin subzone of the Alborz magmatic arc in northwestern Iran. Rock units include intrusions (phases I and II) and volcano-volcaniclastic rocks. The alteration types consist of potassic, phyllic, argillic, and propylitic. The porphyry type is mostly accompanied by potassic alteration. The Chodarchay Fault implies two extensional and compressional mechanisms. The porphyry type is associated with the extensional and the epithermal type with the compressional stage of the fault. Mineralization occurred mainly inside the Eocene volcanic and volcano-sedimentary rocks; some ores are associated with the Late Eocene quartz monzonite. The mineralization is divided into three zones from depth to surface: 1) Hypogene sulfide zone (deep); 2) Enriched supergene sulfide zone (near-surface); 3) Oxidized and leached zone (surface). The major sulfide minerals consist of chalcopyrite, pyrite, sphalerite, and galena. Based on the results of the new analyses, chalcopyrite hosts Ag as a solid-solution and contains Ag-rich Bi-sulfosalt micro-inclusions. Non-constant Cd/Zn ratio in the chalcopyrite can indicate varying physiochemical conditions during its crystallization. Low As contents in the pyrite caused relatively clean pyrite with very few elements. The Ni concentrations in the pyrite imply that it was sourced from mantle mafic–ultramafic rocks. Sphalerite is the only Au-host mineral among the sulfide minerals as a nano-mineral phase. Solid-solution Ag exists in the sphalerite. The sphalerite Fe/Zn ratios show that it was precipitated between 220 and 280 °C. Silver and Bi have the highest measured concentrations among all analyzed elements in the galena, mainly partitioning within the galena, but Hg and Cd are abundant in the sphalerite. Bornite is one of the major carriers of Ag and Bi. Silver and Bi exhibit considerable variations in the Cu-(Fe) sulfides. A new occurrence of sulfosalt minerals was identified at Chodarchay (N = 14). The discovered Bi-sulfosalts include cuprobismuthite group minerals (cuprobismuthite, hodrushite, and paderaite), aikinite-bismuthinite series (aikinite and friedrichite), emplectite, makovickyite, galenobismutite, gustavite, heyrovskyite, neyite, cupropavanite; and As-Sb-bearing Cu sulfosalts (watanabeite and colusite). This number of sulfosalts had not previously been reported from any of the Tarom or Alborz deposits or mines. The Au-Ag occurrence was reported from the neyite, emplectite, and gustavite. The Ag-rich minerals crystallize from fractionated fluids that cooled during rising. Silver-carrier sulfosalts may have been exsolution from pre-existing Ag-bearing chalcopyrite in the cooling system. Most of the Ag-bearing sulfosalt minerals formed at the margins and fractures of the chalcopyrite, indicating that the cooling started from these points. Thus, Ag at Chodarchay is hosted inside Cu-(Fe) sulfides, the significant part of them being chalcopyrite and Ag-rich sulfosalt micro-inclusions inside the chalcopyrite. The fluid temperature for the Ag and chalcopyrite precipitation is from 200 to 350 °C. Bismuth assemblages precipitated at > 350 °C. The cuprobismuthite group crystallizes at temperatures > 300 °C. The supergene process and rare secondary enrichment of Ag and Au took place in the oxidation zone; this enrichment is dependent on the presence of manganese. Based on the fire-assay results, the concentration of gold is greater at shallower depths.

A regular screening for hepatitis delta virus among chronic hepatitis B carriers improves the diagnostic of this infection and of subsequent cirrhosis development.

The prevalence of Hepatitis Delta Virus (HDV) is underestimated and the assessment of fibrosis is recommended for this infection. We tested the diagnostic impact of an annual screening for HDV serology in Hepatitis B Surface Antigen (HBs Ag) chronic carriers and followed the progression of fibrosis in these patients. Between January 2014 and October 2021, we annually tested all chronic HBs Ag-positive patients for HDV antibody (HDV Ab). Each HDV Ab positive patient underwent annually repeated elastometry. Patients with detectable HDV RNA levels (group 1) were compared to those with undetectable HDV RNA (group 2). We identified 610 chronic HBs Ag-positive patients, and repeated screening for HDV Ab was performed in 534 patients. Sixty (11%) patients were HDV Ab positive at baseline and were considered as "coinfected". Seven cases of HDV superinfection were diagnosed through repeated screening. In co-infected patients, cirrhosis was initially diagnosed in 12/60 patients and developed in six patients during follow-up. HDV RNA PCR was performed in 57/67 patients and 27 had detectable levels (group 1). Cumulative incidence of cirrhosis at 7years was 13.8% (95% CI 0-30) in group 1 and 0 (95% CI 0-0) in group 2 (p=0.026). A systematic screening for HDV in chronic HB Ag carriers revealed a high prevalence of HDV Ab. Repeated serological screening enables the diagnosis of superinfections in asymptomatic patients. Regular assessment of fibrosis using elastometry leads to the identification of incidental cirrhosis in patients with detectable HDV RNA.

Pharmacogenetics and pharmacokinetics of rivaroxaban in patients with atrial fibrillation and chronic kidney disease

Aim. To study the possible relationship between polymorphic variants of ABCB1 (rs2032582, rs1045642, rs1128503), CYP3A5 (rs776746), CYP3A4 (rs35599367) and CYP2J2 (rs890293) genes with residual equilibrium concentrations (Cmin,ss) of rivaroxaban in patients with non-valvular atrial fibrillation (AF) and stage 3 and 4 chronic kidney disease (CKD).Material and methods. A total of 123 patients 52 to 97 years old (median age, 82 years) with AF in combination with stage 3 and 4 CKD were included in the study. Each patient underwent a pharmacogenetic and pharmacokinetic study.Results. Cmin,ss and dose-adjusted concentration (Cmin,ss/D) of rivaroxaban were significantly higher in patients with the TT genotype than with the CT genotype of the polymorphic variant rs1045642 of the ABCB1 gene (Сmin,ss 60,5 [36,7;173] ng/ml and 54,8 [23,1;97,3] ng/ml, respectively, р=0,016; Сmin,ss/D 4,06[2,3;8,1] ng/ml/mg and 2,2 [1,1;4,9] ng/ml/mg, р=0,006). In patients with the T allele (CT and TT genotypes), compared with CC genotype carriers, Cmin,ss and Cmin,ss/D were significantly higher (Cmin,ss 60,5 [36,7;173] ng/ml and 45,8 [20,9;82,3] ng/ml, respectively, p=0,029; Cmin,ss/D 4,06 [2,3;8,1] ng/ml/ mg and 2,6 [1,2;4,8] ng/ml/mg, respectively, p=0,014). Also, Cmin,ss and Cmin,ss/D was significantly higher in patients with the TT genotype according to the polymorphic variant rs2032582 of the ABCB1 gene than in patients with the GG genotype (p=0,02 and р=0,016 respectively). Cmin,ss and Cmin,ss/D in T allele (GT and TT genotypes) carriers were significantly higher than in T allele homozygotes (Cmin,ss 57,1 [27,7;106,0] ng/ml versus 37,6 [18,6;61,7] ng/ml respectively, p=0,024; Cmin,ss/D 3,6 [1,7;7,4] ng/ml/mg versus 2,3 [1,1;4,09] ng/ml/mg respectively, p=0,032). Differences in Сmin,ss and Сmin,ss/D of rivaroxaban were detected when comparing TC, CC and TT genotypes of polymorphism rs1128503 of the ABCB1 gene. When comparing Сmin,ss and Сmin,ss/D of rivaroxaban among carriers of AG and GG genotypes of the rs776746 polymorphism of the CYP3A56986A&gt;G gene, no significance was detected (p&gt;0,05). Also, no difference in Cmin,ss and Cmin,ss/D was found when comparing carriers of the CC and CT genotypes of the rs35599367 polymorphism of the CYP3A4 gene, and carriers of the CC and AC genotypes of the rs890293 polymorphism of the CYP2J2 gene (p&gt;0,05).Conclusion. The carriage of T allele by polymorphic variants rs1045642 and rs2032582 of the ABCB1 gene affects Cmin,ss and Cmin,ss/D of rivaroxaban.

Sulfide Mineralization of Carbonate–Silicate Veins in Early Proterozoic Metabasites of North Karelia: Mineral Assemblages, Mineral Forms of Silver, and Fluid Inclusions

The work presents the first data on sulfide mineralization in carbonate–silicate veins, which are widespread on the islands and coast of the White Sea (North Karelia), associating with Early Proterozoic metamorphosed gabbroid bodies. The veins with Fe–Cu sulfide mineralization up to ore occurrences are localized within metabasite bodies and along their contacts with host gneisses. During the study of the mineral composition of the veins, the main assemblages of sulfide minerals were identified: chalcopyrite –bornite ± chlorite ± selenides and Pb–Ag tellurides (B1); digenite–bornite ± selenides and Pb, Ag, and Pd tellurides (B2); pyrite–bornite ± chalcopyrite (B3); marcasite–pyrite–bornite–chalcopyrite (B4); and siegenite–chalcopyrite ± acanthite ± chlorargyrite. The development of sulfide associations, as well as quartz–chlorite aggregates, was related to the late stage of vein formation. Inductively coupled plasma and laser ablation mass spectrometry analyses showed that bornite from association B1 has the highest silver content (up to 675 ppm) and, in terms of Ag, Se, and Bi contents, is closest to bornite from low-temperature epithermal, skarn, and high-temperature vein deposits. In general, bornite is the main Ag carrier in the studied associations, while digenite containing up to 1000 ppm Ag, as well as discrete silver minerals (selenides, tellurides, acanthite, and chlorargyrite), occur in subordinate quantities. Fluid inclusions in quartz from sulfide associations, as well as from a sulfide-free carbonate–silicate vein, were studied by cryo- and thermometric methods. It is established that mineralization at the late stages of vein formation was related to heterogeneous CO2–H2O–NaCl metamorphic fluid. Carbon dioxide fluid inclusions were captured by vein quartz at temperature of 253–314°C and pressure of 2 ± 1 kbar. Water–salt inclusions were captured in a wider temperature range of 100–500°С. The highest temperature fluid inclusions with temperatures of homogenization 300°С are characteristic of quartz veinlets of the siegenite–chalcopyrite association with Ag sulfide and chlorargyrite.

Association study of selenium-related gene polymorphisms with geriatric depression in China.

Depression is a common mental health problem in older adults, but its cause remains unclear. Selenium is an essential micronutrient and a powerful antioxidant in the brain and nervous system. Several recent studies have reported a relationship between selenium levels and depression. This study aimed to investigate the relationship between 4 genes co-associated with selenium and geriatric depression. 1486 participants were included in this study from 5 communities in Ningxia Hui Autonomous Region during 2013 to 2016 in a health examination program for urban and rural residents. Polymorphisms of 4 selenium-related genes were analyzed in 1266 healthy volunteers and 220 patients with depression. The genotyping of rs2830072, rs2030324, rs6265, rs11136000, rs7982, rs10510412, rs1801282, rs1151999, rs17793951, rs709149, rs709154, and rs4135263 were performed by Matrix-assisted laser desorption/ionization-time of flight mass spectrometry (MALDI-TOF-MS) technology. The analysis of selenium-related genes showed that there were significant differences between depression and controls for allele and genotype frequencies of peroxisome proliferator activated receptor gamma (PPARG) rs10510412, rs709149, and rs709154 (all P < .05). In this study, when adjusting for age, sex, marital status, education, and alcohol consumption, results showed that rs709149 and rs709154 were still significantly correlated with geriatric depression in the codominant, dominant, overdominant, and log-additive models. Logistic regression analysis showed that rs709149 AG or GG gene carriers were 1.630 and 1.746 times more susceptible to depression than AA gene carriers (95% CI = 1.042-2.549; 1.207-2.526). The results of this study suggest that the rs709149 polymorphism of the selenium-related gene PPARG is a genetic risk factor for depression in older adults.

Impacts of RETN genetic polymorphism on breast cancer development in Beni-Suef females, Egypt

Breast cancer is the most common cancer among females with increasing incidence and death rates. Resistin is pro-inflammatory molecule which shares in diverse cellular signaling pathways. This study aimed to evaluate resistin and RETN rs3219175 gene polymorphism and their relevance to diagnostic susceptibility, prognostic value, and genetic risk among Egyptian female patients with breast cancer. Eighty female patients with breast cancer were recruited from the Oncology Department, Faculty of Medicine, Beni-Suef University. Breast cancer staging and grading were determined. Eighty age-matched normal females participated as controls. Quantitative determination of serum resistin was assayed by an enzyme-linked immunosorbent assay (ELISA). RETN rs3219175 gene polymorphism was determined by real time polymerase chain reaction (RT-PCR) TaqMan allelic discrimination assay. Serum resistin showed statistically significantly higher level among females with breast cancer when compared to controls (p < 0.001). Resistin showed sensitivity of 80% and specificity of 67.5% at cut off value of 1.27 ng/mL for diagnosis of breast cancer (p =0.001). RETN rs3219175 gene polymorphism showed significantly higher frequency of AG, AA genotypes, and A allele among cases when compared to controls (p < 0.001). No statistical difference was found in resistin level or RETN rs3219175 gene polymorphism regarding tumor characteristics including size, lymph nodes or distant metastasis. Resistin showed significantly higher level among carriers of AG followed by AA genotypes and among A allele (p < 0.001). In conclusion, resistin could be proposed as a possible potential diagnostic marker and A allele of RETN rs3219175 gene might be suggested as a genetic risk allele among female patients with breast cancer.

Pharmacogenetic association of the NR1H3 promoter variant with antihypertensive response among patients with hypertension: A longitudinal study.

Background: The genetic factors in assessing therapeutic efficacy and predicting antihypertensive drug response are unclear. Therefore, this study aims to identify the associations between variants and antihypertensive drug response. Methods: A longitudinal study including 1837 hypertensive patients was conducted in Northern China and followed up for a median 2.24years. The associations of 11 candidate variants with blood pressure changes in response to antihypertensive drugs and with the risk of cardiovascular events during the follow-up were examined. The dual-luciferase assay was carried out to assess the effect of genetic variants on gene transcriptional activity. Results: The variant rs11039149A>G in the promoter of nuclear receptor subfamily 1 group H member 3 (NR1H3) was associated with the change in systolic blood pressure (ΔSBP) in response to calcium channel blockers (CCBs) monotherapy. Patients carrying rs11039149AG genotype showed a significant increase of systolic blood pressure (SBP) at follow-up compared with AA carriers, and the difference of ΔSBP between AG and AA carriers was 5.94mm Hg (95%CI: 2.09-9.78, p = 0.002). In 1,184 patients with CCBs therapy, SBP levels decreased in AA carriers, but increased in AG carriers, the difference of ΔSBP between AG and AA carriers was 8.04mm Hg (95%CI: 3.28-12.81, p = 0.001). Further analysis in 359 patients with CCBs monotherapy, the difference of ΔSBP between AG and AA carriers was 15.25mm Hg (95%CI: 6.48-24.02, p = 0.001). However, there was no significant difference in ΔSBP between AG and AA carriers with CCBs multitherapy. The rs11039149A>G was not associated with the cardiovascular events incidence during the follow-up. Additionally, transcriptional factor forkhead box C1 (FOXC1) bound to the NR1H3 promoter containing rs11039149A and significantly increased the transcriptional activity, while rs11039149 A to G change led to a loss-of-function and disabled FOXC1 binding. For the other 10 variants, associations with blood pressure changes or risk of cardiovascular events were not observed. Conclusion: Hypertensive patients with rs11039149AG genotype in the NR1H3 gene have a significant worse SBP control in response to CCBs monotherapy compared with AA carriers. Our findings suggest that the NR1H3 gene might act as a promising genetic factor to affect individual sensitivity to antihypertensive drugs.

Новые данные о петците Балейского рудного поля в Восточном Забайкалье

The relevance lies in the need to get data on the chemical composition, abundance and paragenesis of petzite, which is one of the mineral carriers of Te, Au and Ag in the gold and silver ores of the Baley ore field in Transbaikalia. During the development of deposits in the ore field, only Au and Ag were extracted, Te went to the dump. The deposits have not been fully developed. The remaining Au reserves of the Taseevskoye deposit are 105 tons, the Au resources of the Baley deposit are estimated at 35 tons. In connection with the extraction of the remaining reserves of Au–Ag ores of these deposits, where part of Te is in the form of petzite Ag3AuTe2, information about it will be important for the development of technology for its extraction along with other tellurides. The purpose of the study is to understand the chemical composition and paragenesis of petzite. The tasks are to study the composition of petzite and petzite-bearing mineral associations of the Baley ore field. The object of the study is Au–Ag ores of the Baley ore field, the subject of the study is the forms of isolation and the chemical composition of petzite. Methodology and methods – optical and electron microscopy with the identification of shapes and sizes of individuals and aggregates of petzite, determination of its chemical composition. Research results are the following: for the first time, the study of the chemical composition of petzite in the ores of the Baley ore field, its abundance and paragenesis has been carried out. It is found in association with hessite, native gold, miargyrite, tetrahedrite, tennantite, pyrite, chalcopyrite, sphalerite, altaite, coloradoite, schützite, andorite, robinsonite, quartz, adularia, carbonates, kaolinite and other minerals. The chemical composition varies within the limits (wt%): Ag 41.57–48.16; Au 18.55–26.01; Te 30.79–35.18. Petzite average chemical composition (wt%): Ag 43.91; Au 22.61; Te 33.16. This indicates the nonstoichiometric composition of its composition and an excess of Ag and Te and a deficit of Au. Petzite, as a carrier of these elements, can be one of the sources of Te in the technology of processing gold and silver ores.

Evaluation of the antioxidant activity of micropropagated stevia affected by peptidomimetic nanofibers as an Ag carrier

Evaluation of the antioxidant activity of micropropagated stevia affected by peptidomimetic nanofibers as an Ag carrier

Association of - 717 A > G (rs2794521) CRP polymorphism with high cardiovascular risk by C-reactive protein in systemic lupus erythematosus patients.

Systemic lupus erythematosus (SLE) is an autoimmune disease where genetic factors have been related to SLE susceptibility and disease severity. CRP polymorphisms have been associated with high C-reactive protein (CRP) serum levels, cardiovascular disease (CVD), and high clinical disease activity in SLE patients; however, the evidence is still inconclusive. This study was aimed to assess the association of the - 717 A > G, - 409 G > A, + 1444 C > T, and + 1846 C > T CRP polymorphisms with genetic susceptibility, clinical disease activity, and CVD risk in Mexican-mestizo SLE patients. A comparative cross-sectional study was conducted on 369 unrelated women: 183 with SLE according to the 1997 SLE-ACR criteria and 186 healthy subjects (HS). The clinical disease activity was assessed by the Mex-SLEDAI score; CRP and lipid profile were quantified by turbidimetry and colorimetric-enzymatic assays, respectively. The CRP polymorphisms genotyping was carried out by allelic discrimination. SLE patients with - 717 AA genotype had higher CRP serum levels than SLE carriers of AG and GG genotypes (AA = 5mg/L vs. AG = 3.2mg/L vs. GG = 2.4mg/L; p = 0.01), and the AA genotype was associated with high CVD risk by CRP in SLE patients (OR = 3; CI: 1.2-7.6; p < 0.01). The - 717 A > G CRP polymorphism is a risk factor for high CRP levels and high CVD risk in Mexican-mestizo SLE patients. Key Points • Cardiovascular disease is one of the major causes of death in SLE patients due to the higher prevalence of traditional and non-traditional cardiovascular risk factors. • C-reactive protein is a liver-derived acute-phase protein suggested as one powerful independent risk predictor factor for cardiovascular disease. • Single nucleotide polymorphisms in CRP have been suggested as genetic susceptibility factors that could modify the SLE pathophysiology outcomes. • Mexican-mestizo SLE patients carrying the -717 A>G CRP AA genotype had 3-fold high cardiovascular disease risk than SLE patients with AG or GG genotypes.

Association of GLP1R variants rs2268641 and rs6923761 with obesity and other metabolic parameters in a Polish cohort.

Obesity is a complex disease associated with excessive fat accumulation and numerous metabolic complications. So far, many factors leading to the development of this disorder have been identified, including genetic susceptibility. Various studies linked GLP1R variants with anthropometric and metabolic parameters, suggesting the role of the variation in this gene in metabolic health. The aim of this study is to investigate the association of two single nucleotide variants of GLP1R gene, rs2268641 and rs6923761, with excessive weight, metabolic syndrome, anthropometric measurements and selected metabolic parameters. Normal-weight subjects (n= 340, control group) and subjects with excessive body mass (n = 600, study group) participated in this study. For all participants, anthropometric measurements and metabolic parameters were collected, and genotyping of the two single nucleotide variants of GLP1R gene, rs2268641 and rs6923761, was performed using the high-resolution melting curve analysis. Significant differences in the genotype distribution of rs2268641 were found, where homozygous TT genotype was significantly less frequent in the study group with excessive body mass (OR=0.66; p=0.0298). For rs6923761, A allele and homozygous AA genotype were significantly more frequent in the study group with excessive weight than in the control group (OR=1.27; p=0.0239 and OR=1.69; p=0.0205, respectively). The association of studied variants with metabolic parameters was found for rs6923761. For this variant, AA carriers had higher body mass in comparison to GG carriers (p=0.0246), and AA carriers had higher glucose concentration in comparison to AG carriers (p=0.0498). We did not find an association of rs2268641 and rs6923761 with metabolic syndrome. In our study, AA carriers of rs6923761 had higher risk of excessive body mass, whereas TT carriers of rs2268641 had lower risk of being overweight. Moreover, homozygous carriers of the minor allele of rs6923761 had higher glucose concentration in comparison to heterozygous subjects. None of the studied variants were associated with metabolic syndrome in the studied population.

CARD9 gene rs4077515 polymorphism is associated with the susceptibility of Hashimoto’s thyroiditis and the development of thyroid cancer

AmisHashimoto’s thyroiditis (HT) is the most common type of autoimmune thyroiditis and is a risk factor for the occurrence of thyroid papillary carcinoma (PTC). The study aimed to explore the distribution of CARD9 rs4077515 polymorphism in HT and PTC patients, in order to evaluate its association with the occurrence and development of HT. Methods150 HT patients and 120 PTC cases were included. Genotypes of CARD9 rs40775155 polymorphism were sequenced and counted. ResultsA remarkable increase trend of rs4077515 AA genotype was found in HT cases in comparison with the control group, while GG genotype frequency exhibited a down trend. An excess of A allele was also detected in HT group. HT cases carrying AG and AA genotypes had high risk to receive hormonotherapy and needed a much larger dose. In comparison with HT cases, both AG and AA appeared more frequently in PTC patients, and are associated with the tumor size, LN metastasis and surgical margin. The AG (OR = 2.566, 95 % CI = 1.376–4.786) and AA (OR = 3.040, 95 % CI = 1.525–6.060) genotype carriers had a greater risk of developing PTC. The A allele of rs4077515 polymorphism was a risk allele for the onset of PTC among HT cases (OR = 1.775, 95 % CI = 1.260–2.502). ConclusionCARD9 rs4077515 polymorphism is likely to be a risk factor for HT in the Chinese Han population, it also contributes to the development of PTC for HT patients.

Modulating carrier density of the (Ag)x(MoO3)y system to enhance SERS:Localized surface plasmon resonance contribution

Semiconductors typically exhibit long-wavelength LSPR absorption in the infrared region due to lower carrier density. Tuning the carrier density of semiconductors and blue-shifting their LSPR absorption to the visible and near-infrared region has always been a great challenge. Herein, we discussed how the controllable carrier of (Ag)x(MoO3)y composite influences the LSPR based on SERS test and UV–Vis–NIR absorption spectra. We were surprised to find that the LSPR absorption wavelength can be easily tuned from 950 to 735 nm by changing the sputtering power of MoO3 of the (Ag)x(MoO3)y composite. This shows that LSPR can be precisely adjusted by increasing the semiconductor content and even the carrier density. In addition, the carrier density was measured by Hall effect to investigate the SERS intensity change caused by electromagnetic (EM) enhancement, and obtain the relationship between the two. The findings of this work provide an idea for tunable LSPR and the research of EM contributions to SERS.

Impact of AKT1 polymorphism on DNA damage, BTG2 expression, and risk of colorectal cancer development.

BackgroundAKT, also called protein kinase B, is a serine-threonine kinase that functions as a mediator of PI3K-Akt-mTOR signaling pathway and plays an important role in an array of cellular processes. Many single nucleotide polymorphisms (SNP) in AKT gene have been observed to be associated with various types of cancers. In the current research the association of a functional SNP rs1130233 in AKT, depicting G to A transition, was studied with AKT activation, DNA damage, an early response B-cell translocation gene 2 (Btg2) expression and risk of colorectal cancer (CRC) development.Patients and methodsA total 197 population-based controls and 200 CRC patients were genotyped for SNP rs1130233. AKT expression, activation and BTG2 expression were determined in GG, AG and AA genotype carriers. DNA damage was determined through comet assay.ResultsThe heterozygous AG genotype (55.67%) was more prevalent in the local population compared to homozygous wild type GG (37.78%) and homozygous AA genotypes (6.55%). Moreover, AG and AA alleles were observed to be significant contributors (P = 0.01, OR = 1.80, CI = 1.18 to 2.74, and P = 0.001, OR = 5.00, CI = 1.90 to 13.18, respectively) in increasing the risk of CRC. The immunoblot analysis revealed that G to A transition decreased the expression and activation of AKT. Moreover, AG and AA genotypes of AKT1 rs1130233 showed a significant increase in DNA damage and Btg2 expression.ConclusionsThe data concludes that G to A substitution is a risk factor for CRC development involving a decrease in AKT expression and activation and increase in DNA damage.