Detection Of Gene Polymorphisms Research Articles

Application of nutrigenomics and metagenomics in livestock

Nutrigenomics tools, such as transcriptomics referring to RNA, proteomics referring to protein molecules and metabolomics referring to metabolites, can be used to effectively explore the events at molecular level occurring in a genome that receives signals from various nutrients and responds to them through different metabolic processes in the living organism. Nutrigenomics has the potential to identify personalized diets, elucidate diet-related diseases, pinpoint genes associated with diet-gene interactions, and detect gene polymorphisms influenced by significant nutritional and environmental factors affecting genetic expression. Limited information is available on the dietary impact on gene expression associated with reproductive and productive traits in livestock. However, this might be feasible to initiate an understanding of the significance of the connection between specific nutrients or dietary ingredients and the gene expression regulation. Utilizing nutrigenomic approaches will augment researchers’ capacities to uphold animal health, optimize animal performance, and enhance the milk quality and meat quality. Despite being rapidly advancing science, nutrigenomics is still in its early phase. Metagenomics is emerging as a robust and efficient approach for the metagenome sequencing derived from environmental samples. Investigating the gut microflora of various livestock and poultry species holds the potential to identify probiotic communities possessing both immunity-boosting properties and growth-promoting. Analyzing the diversity of gut microbes’ aids in identifying strains that contribute to animals’ adaptability to their native conditions. This approach is optimal for unveiling the phylogenetic and evolutionary connections between contemporary species and the ancestors of livestock and poultry

Influencing risk factors of voriconazole-induced liver injury in Uygur pediatric patients undergoing allogeneic hematopoietic stem cell transplantation

PurposeWe aimed to investigated the influencing risk factors of voriconazole-induced liver injury in Uygur pediatric patients undergoing allogeneic hematopoietic stem cell transplantation (HSCT).MethodsThis was a prospective cohort design study. High-performance liquid chromatography-mass spectrometry was employed to monitor voriconazole concentration. First-generation sequencing was performed to detect gene polymorphisms. Indicators of liver function were detected at least once before and after voriconazole therapy.ResultsForty-one patients were included in this study, among which, 15 patients (36.6%) had voriconazole-induced liver injury. The proportion of voriconazole trough concentration > 5.5 μg·mL−1 patients within the DILI group (40.0%) was significantly higher compared to the control group (15.4%) (p < 0.05). After administration of voriconazole, the values of ALT (103.3 ± 80.3 U/L) and AST (79.9 ± 60.6 U/L) in the DILI group were higher than that in the control group (24.3 ± 24.8 and 30.4 ± 8.6 U/L) (p < 0.05). There was no significant difference between the two groups in genotype and allele frequencies of CYP2C19*2, CYP2C19*3, CYP2C19*17, and UGT1A4 (rs2011425) (p > 0.05).ConclusionThere was a significant correlation between voriconazole-induced liver injury and voriconazole trough concentration in high-risk Uygur pediatric patients with allogeneic HSCT.

Genetic variability in stroke patients: CYP2C19 polymorphisms unraveled

ObjectiveTo study the distribution characteristics of CYP2C19 polymorphisms in patients suffering from stroke in Han Chinese patients.MethodPCR and DNA microarray chip technology were used to detect the CYP2C19 genotype of 549 patients with stroke, and the genotype, allele frequency and metabolic type of patients with different sexes, ages and types of infarctions and the independent risk factors for clopidogrel resistance were analyzed.ResultsSix genotypes were detected in these 549 patients. A total of 233 (42.44%) patients had the heterozygous allele *1/*2, which was the most prevalent, followed by the homozygous wild-type allele *1/*1 (191, 34.79%). A total of 30 (5.46%) patients possessed the heterozygous allele *1/*3, and 65 (11.84%) patients had the homozygous mutant allele *2/*2. Twenty-nine (5.28%) patients had the compound heterozygous mutant allele *2/*3, and only 1 patient had the homozygous mutant allele *3/*3. The distribution of genotypes, alleles, and metabolic types did not change significantly (P > 0.05) by sex, age, or type of stroke. In addition, no independent risk factors for clopidogrel resistance were found in this analysis.ConclusionThe distribution of CYP2C19 genotypes, allele frequencies, and metabolic types in patients with stroke in Han Chinese patients were not correlated with sex, age, or infarction type. The possibilities of hyperglycemia, hypercholesterolemia, hypertriglyceridemia, hypo-HDL-cholesterolemia, hyper-LDL-cholesterolemia and high blood pressure were not statistically associated with CYP2C19 genotypes. CYP2C19 gene polymorphism detection is recommended for patients who are available, and during treatment, the CYP2C19 genotype can be used to guide personalized precise medication use in patients with stroke.

Association between gene polymorphisms and initial warfarin therapy in patients after heart valve surgery.

Warfarin is widely used for the prevention and treatment of thrombotic events. This study aimed to examine the influence of gene polymorphisms on the early stage of warfarin therapy in patients following heart valve surgery. Nine single nucleotide polymorphisms were genotyped using microarray chips, categorizing patients into three groups: normal responders (Group I), sensitive responders (Group II), and highly sensitive responders (Group III). The primary clinical outcomes examined were time in therapeutic range (TTR) and international normalized ratio (INR) variability. To investigate potential influencing factors, a generalized linear regression model was employed. Among 734 patients, the prevalence of CYP2C9*3-1075A > C, CYP2C19*3-636G > A, and CYP2C19*17-806C > T variants were 11.2%, 9.9%, and 1.9% of patients, respectively. VKORC1-1639G > A or the linked -1173C > T variant was observed in 99.0% of the patients. Generalized linear model analysis revealed an impact of sensitivity grouping on INR variability. Compared to Group I, Group II showed higher TTR values (p = 0.023), while INR variability was poorer in Group II (p < 0.001) and Group III (p < 0.001). Individual gene analysis identified significant associations between CYP2C9*3-1075A > C (p < 0.001), VKORC1-1639G > A or the linked -1173 C > T (p = 0.009) and GGCX-3261G > A (p = 0.019) with INR variability. The genotypes of CYP2C9, VKORC1, and GGCX were found to have a significant impact on INR variability during the initial phase of warfarin therapy. However, no significant association was observed between TTR and gene polymorphisms. These findings suggest that focusing on INR variability is crucial in clinical practice, and preoperative detection of gene polymorphisms should be considered to assist in the initiation of warfarin therapy.

The Novel PTX3 Variant g.22645332G>T Is Strongly Related to Awassi and Hamdani Sheep Litter Size.

The detection of polymorphisms in genes that control livestock reproduction could be highly beneficial for identifying and enhancing economic traits. One of these genes is pentraxin 3 (PTX3), which affects the reproduction of sheep. Therefore, this study investigated whether the variability of the PTX3 gene was related to the litter size of Awassi and Hamdani ewes. A total of 200 ewes (130 Awassi and 70 Hamdani) were used for genomic DNA extraction. Polymerase chain reaction was used to amplify the sequence fragments of exons 1, 2, 3, and 4 from the PTX3 gene (Oar_v4.0; Chr 1, NC_056054.1), resulting in products of 254, 312, 302, and 253, respectively. Two genotypes, GG and GT, were identified for 302 bp amplicon. A novel mutation was discovered through sequence analysis in the GT genotype at position g.22645332G>T. The statistical analysis revealed a significant association between single nucleotide polymorphism (SNP g.22645332G>T; Oar_v4.0; Chr 1, NC_056054.1) and litter size. The presence of the SNP g.22645332G>T (Oar_v4.0; Chr 1, NC_056054.1) genotype in ewes resulted in a significant difference compared to ewes with GG genotypes. The discrepancy became apparent in several aspects, including litter sizes, twinning rates, lambing rates, litter weight at birth, and days to lambing. There were fewer lambs born to ewes with the GG genotype than to ewes with the GT genotype. The variant SNP g.22645332G>T (Oar_v4.0; Chr 1, NC_056054.1) has positive effects on the litter size of Awassi and Hamdani sheep. The SNP g.22645332G>T (Oar_v4.0; Chr 1, NC_056054.1 has been associated with an increase in litter size and higher prolificacy in ewes.

Association of RARRES2 rs17173608 gene polymorphism and serum Chemerin with acute myocardial infarction and its risk factors: A case-control study in an Iranian population

ObjectiveThe adipokine Chemerin and the retinoic acid receptor responder 2 (RARRES2) gene have been associated with an increased incidence of obesity, insulin resistance, endothelial dysfunction, type 2 diabetes mellitus, and coronary artery disease. The impact of RARRES2 rs17173608 gene polymorphism on acute myocardial infarction and Chemerin levels has not yet been entirely elucidated. This study aimed to assess the association of RARRES2 rs17173608 gene polymorphism and serum Chemerin with acute myocardial infarction (AMI) and its risk factors in an Iranian population. MethodsIn this case-control study, 134 AMI patients and 100 healthy controls were recruited from tertiary referral hospitals in Zanjan, Iran. Whole blood samples were collected for DNA extraction and Chemerin level determination. An enzyme-linked immunosorbent assay was used to quantify plasma levels of Chemerin. Tetra‐primer amplification refractory mutation system‐polymerase chain reaction and agarose gel electrophoresis techniques were used to detect gene polymorphism of Chemerin rs17173608 from DNA samples. ResultsSerum Chemerin levels were higher in the control group than in the AMI group. However, after adjusting for age, sex, and other risk factors, there was no significant association between serum Chemerin level and AMI occurrence. In the genotype analysis, 21.6% of patients had the TT genotype, and 78.4% had the TG genotype. The GG genotype was not detected in any patient. The genotype distribution of the healthy control group was 19.0% TT genotype, 80.0% TG genotype, and 1.0% GG genotype. Serum Chemerin levels in participants with TG genotype were statistically different between case and control groups. ConclusionSerum Chemerin levels and RARRES2 rs17173608 gene polymorphism were not correlated with AMI occurrence after adjusting for AMI risk factors in Iranian patients. More research with a larger sample size and diverse ethnicities is needed to corroborate our findings.

Involvement of IL-10 gene polymorphism (rs1800896) and IL-10 level in the development of periimplantitis.

Dental implant loss is the worst problem. Today, implant failure is precisely characterized, however the underlying reasons vary by instance. Multiple implant failures indicate genetic risk factors. This cross-sectional study included 80 subjects (15 peri-implantitis patients, 35 successful implants and 30 healthy controls); their mean age was 44.22±10.936 years). Blood samples and peri-implant sulcular fluid (PISF) were collected from all subjects (patients with peri-implantitits, successful implants and healthy controls) attending the Department of Oral and Maxillofacial Surgery in the Dental College Teaching Hospital/Baghdad University, and Shahid Ghazi Al-Hariri Hospital/Medical City Baghdad, Iraq. The blood sample is used for the detection of gene polymorphism of Interleukin-10 conducted by a polymerase chain reaction. While the PISF is used to measure IL-10 level by enzyme-linked immunosorbent assay (ELISA). In the peri-implantitis group, CC genotypes had higher PISF for IL-10 than TC and TT genotypes (P<0.05). IL-10 genetic polymorphism indicated an odds ratio of genotype related to peri-implantitis, with the C/C genotype having a 0.4-fold greater risk (P=0.0035). In the peri-implantitis group, the T/C genotype had a 1.3-fold greater risk (P<0.05) and the T/T genotype had a one-fold increased risk. The polymorphisms of IL-10 rs1800896 evaluated were not predictive of the failure of dental implants. However, a significant association between peri-implant disease and IL-10 level could be observed.

Analysis of Correlation Between Coronary Heart Disease and Genetic Polymorphism Detected by Gold Magnetic Nanoparticles Chromatography.

It aimed to explore the correlation of Glu504Lys locus mutation of aldehyde dehydrogenase-2 (ALDH2) with coronary heart disease (CHD) based on gold magnetic nanoparticles (GMNPs) chromatography and amplification refractory mutation system-PCR (ARMS-PCR). 120 CHD patients admitted to the cardiovascular Department of Wenling First People's Hospital affiliated to Wenzhou Medical University from December 2020 to December 2021 were selected as Case group and 80 non-CHD patients admitted during the same period were selected as Ctrl group. The venous blood and indexes of Total Cholesterol (TC), Triglyceride (TG), Low Density Lipoprotein Cholesterol (LDL-C), High Density Lipoprotein Cholesterol (HDL-C), and Fasting Blood Glucose (FBS) were collected. The ARMS-PCR GMNPs chromatography based on ARMS-PCR and immunochromatography assay was adopted to detect gene polymorphism of ALDH2. Correlation between ALDH2 gene polymorphism and risk factors of CHD was analyzed via logistic regression. In contrast to Ctrl group, the genotypes of GG, GA, and AA in Case group were evidently different (P < 0.05), and the frequency of A allelic gene was obviously increased (P < 0.05). Under the dominant model, frequency of GA + AA genotype in Case group was remarkably higher in contrast to Ctrl group (P < 0.05). Under the recessive model, there was no obvious difference in genotype frequency between two groups. In contrast to Ctrl group, TC, LDL-C, and FBS in Case group were notably increased (P < 0.05), while HDL-C was notably decreased (P < 0.05). The distribution frequency of abnormal LDL-C, HDL-C, and FBS in Case group was notably higher in contrast to Ctrl group (P < 0.05). LDL-C and FBS had no obvious effect on the genotypes and frequency distribution of alleles in CHD patients. However, the frequency distribution of genotypes of GA and AA and A allelic gene in patients with abnormal HDL-C was notably lower in contrast to those with normal HDL-C (P < 0.05). Logistic regression analysis showed that abnormal HDC-C with A allelic gene were independent risk factors for CHD (P = 0.001, OR = 1.934). The gene polymorphism of Glu504Lys locus of ALDH2 was closely related to the pathogenesis of CHD, A allelic gene may be a susceptibility gene for CHD, and patients with abnormal HDC-C and carried A allelic gene had relatively higher incidence of CHD.

Association of IL-17A rs2275913, IL-23R rs11209026 polymorphisms and serum level of IL-17A with rheumatoid arthritis in Egyptian patients

Several studies have reported genetic polymorphisms at the IL-23/IL-17 axis linked to rheumatoid arthritis (RA) in many populations. We aimed to investigate the association of IL-17A rs2275913 and IL-23R rs11209026 polymorphisms with susceptibility to RA and, disease clinical features and the serum level of IL-17A in Egyptian patients. This case-control study included 94 RA cases and 74 controls. TaqMan genotyping assays were used for detection of gene polymorphism and the enzyme-linked immunosorbent assay was used to quantify IL-17A serum level. There was significant difference between RA patients and controls in genotypic distribution and allelic frequency of IL-17A rs 2275913 (p &lt;0.0001). The GG genotype had 7 times higher risk for RA development (OR=7.04: 95% CI 2.11:23.46, p value= 0.001). Also, GG genotype was associated with higher level of serum IL-17 A compared to GA and AA genotypes (p&lt;0.0001). Moreover, patients carrying the GG genotype had higher disease activity score 28 (DAS28) score (4.99±0.84) compared to patients with GA (2.73±0.52, p&lt;0.0001) and patients with AA genotypes (2.67±0.41, p&lt;0.0001). Genotypic distribution of IL-23R rs11209026 was significantly different between RA patients and controls (p &lt;0.0001), but there was no difference between the allelic frequency in both groups (p=0.08). IL-23R rs11209026 SNP was not a risk for RA development. However, DAS28 was lower in AA genotype than AG and GG genotypes (p=0.002, p=0.009 respectively). The mean serum IL-17A level was higher among the RA patients (39.07±10.47 pg./ mL) compared to controls (15.23±1.88 pg/ mL; p &lt;0.0001). Also, there was a positive correlation between IL-17A serum level and DAS28 score (Spearman r = 0.42; p value &lt;0.0001). We concluded that the variant IL-17A (rs2275913) genotype could be a risk factor for RA in our population and IL-17A may play a crucial role in the development and pathogenesis of RA.

Асоціація поліморфізмів генів GSTP1(A313G), MTHFR (С677T) та IL-10 (C819T) із ризиком виникнення гліобластоми

гліобластома одна з найбільш поширених злоякісних пухлин головного мозку з вкрай низькою виживаністю. Незважаючи на досягнення у вивченні молекулярного патогенезу та біології пухлин мозку, причини виникнення гліобластоми залишаються нез’ясованими. Дослідження останніх років вказують, що зміни у генах, які беруть участь у проліферації, диференціації та апоптозі клітин, можуть впливати на ризик виникнення онкологічних захворювань. Тож метою роботи було дослідити поліморфізми генів GSTP1(A313G), MTHFR (С677Т) та IL-10 (C819T) у хворих на гліобластому та проаналізувати їх зв’язок із ризиком розвитку цієї патології. Біологічним матеріалом для аналізу поліморфізмів генів GSTP1, MTHFR та IL-10 слугувала периферична кров хворих на гліобластому та практично здорових людей. Дослідження поліморфізмів генів проводилось за допомогою методу алель-специфічної ПЛР із використанням власних пар детекторів TaqMan MGB на основі флуоресцентних барвників, що призначені для виявлення однонуклеотидних замін. Встановлено, що частота мутантного алеля G гена GSTP1 у хворих становила 53,6% проти 32% у групі практично здорових людей. Розподіл генотипів гена GSTP1 у групі хворих відповідав закону генетичної рівноваги Харді-Вайнберга та статистично відрізнялась від показника у групі практично здорових людей і становив 0,538 проти 0,320 (χ2 = 13,10, р = 0,003). Визначено, що ризик виникнення гліобластоми є в 4,88 разів вищим у осіб, що є гомозиготними носіями мутантного алелю гена GSTP1 (генотип G313G) у порівнянні з іншими поліморфними варіантами. В результаті наших досліджень, було встановлено, що частота мутантного алеля С гена IL-10 у хворих становила 48,8%, що значно перевищує відповідний показник у групі практично здорових людей – 25%. Встановлено, що розподіл генотипів гена IL-10 у групі хворих відповідав закону генетичної рівноваги Харді-Вайнберга, частота мутантного алеля С гена IL-10 статистично відрізнялась від показника у групі практично здорових людей та становила 0,488 проти 0,250 (χ2 = 18,32, р = 0,00002). Встановлено, що існує асоціація між поліморфізмом гена IL-10 (C819T) та ризиком виникнення гліобластоми, у гомозиготних носіїв із генотипом Т819Т, ризик захворіти збільшується у 6,40 рази. Також нами було встановлено, що частота мутантного алелю Т гена MTHFR у хворих становила 35,0% проти 28,1% у групі практично здорових людей. Розподіл генотипів гена MTHFR у групі хворих відповідав закону генетичної рівноваги Харді-Вайнберга, а розподіл частот поліморфних варіантів ген показав відсутність статистично достовірних відмінностей між групою хворих та групою практично здорових людей (χ2 = 1,43 р = 0,23). Не було встановлено асоціації між поліморфізмом гена MTHFR (С677Т) і ризиком виникнення гліобластоми.

Association of CYP2C19, CYP3A4 and ABCC2 polymorphisms and voriconazole plasma concentrations in Uygur pediatric patients.

Aim: To evaluate the association between CYP2C19, CYP3A4 and ABCC2 polymorphisms and voriconazole plasma concentrations in Uygur pediatric patients with allogeneic hematopoietic stem cell transplantation. Materials & methods: High performance liquid chromatography-mass spectrometry was employed to monitor voriconazole concentrations. First-generation sequencing was performed to detect gene polymorphisms. Results: Voriconazole concentrations of normal metabolizers were significantly higher than those of intermediate (p<0.05) and ultrafast (p<0.001) metabolizers. Patients with ABCC2 GG and GA genotypes exhibited significantly lower voriconazole concentrations compared with patients with the AA genotype (p<0.05). Conclusion: These results demonstrate a significant association between voriconazole concentrations and the CYP2C19 phenotype in Uygur pediatric patients with allogeneic hematopoietic stem cell transplantation.

Clinical applications of molecular genetics research in glaucoma daily practice

AbstractPersonalized medicine using genetic information to predict disease development and tailor preventive interventions is an evolving field. In the last decade, molecular genetic studies in glaucoma have experienced a great advance, partly due to the appearance of new diagnostic technologies such as high‐efficiency and rapid next‐generation sequencing (NGS) that allows the sequencing of gene panels in a short time, exomes or complete genomes. With these advances, the list of candidate genes associated with the diagnosis of POAG has greatly increased and there is increasing information about the molecular mechanisms underlying POAG. The new genes involved in the pathology of glaucoma are mainly related to oxidative stress, DNA repair mechanisms, mitochondrial DNA, sex hormones, etc. The study of loci associated with quantitative endophenotypic traits has also been proposed that would act as risk factors for the disease (pachymetry, axial length, anterior chamber depth, diameter of the retinal vessels, papillary excavation, etc.) that, when added together, would increase the risk of developing POAG.On the other hand, exome sequencing can be useful for the detection of polymorphisms in genes associated with the individual response to medical treatment of glaucoma (pharmacogenic bases of glaucoma) and the possible success of filtering surgery in these patients (genetic bases of glaucoma). Early fibrosis in individuals with glaucoma.Recent studies have described the existence of polymorphisms against the ocular pharmacological receptors of the drugs commonly used to treat glaucoma that would cause an absence of pharmacological response. These would be polymorphisms in genes encoding drug receptors for prostaglandin analogs (rs3766355; rs3753380) and topical beta‐blockers (rs1042714) and would provide valuable information on whether the patient will respond well to these drugs or will be resistant them and thus plan their antiglaucomatous treatment in a personalized and early manner. The main cause of surgical failure in patients with glaucoma is fibrosis of the conjunctival bleb. This may be due to acquired factors (prolonged use of topical medication causing inflammation of the ocular surface, eye drops with preservatives, dry eye, etc.), or genetic factors that would cause individual susceptibility to early fibrosis of the conjunctival bleb. In recent years, genes that present an overexpression at the conjunctival level in cases of early surgical failure have been described and studies have also been published on the existence of systemic and genetic humoral factors responsible for an individual hyperfibrosing genetic profile. Definitely. the study of exomes by means of NGS would allow us to quickly and effectively discover different aspects of the glaucomatous pathology of our patients: molecular diagnosis, detection of asymptomatic relatives, genetic counselling, type of appropriate hypotensive treatment and type of surgical technique that would increase surgical success. And so in the near future we will be able to personalize and administer early treatment that is key to stopping the destruction of the optic nerve in these patients.

Study of the association of gene polymorphism associated with sports success and risk of occupational diseases in young football players

Annotation. Advances in sports genetics have opened up new opportunities in determining the propensity to perform physical activity of varying intensity and duration, as well as in the diagnosis and prevention of pathologies of athletes whose development is associated with excessive training loads. Detection of gene polymorphism makes it possible to develop personalized schemes for the prevention of various pathologies in athletes. The aim of the study was to study the genetic polymorphisms of the genes ACE (Ins/Del), ACTN3 (R577X), AMPD (Gln12Ter), UCP2 (Arg/Gly) in young football players, which cause individual differences in physical performance and susceptibility to occupational diseases. The object of the study was the genetic material of 24 football boys, the biological material for the study was DNA extracted from buccal epithelial cells. Molecular genetic analysis of genomic DNA was performed by polymerase chain reaction. Statistical surveys were performed using the software STATISTICA 6.1 to determine the average and percentage ratios. As a result of genotyping of young football players, polymorphisms of the I/D gene ACE, R577X of the ACTN3 gene, Gln12Ter of the AMPD gene and Arg/Gly of the UCP2 gene were revealed. For the ACE genotype 16.7%; 16.7%; 66.6% of players had genotypes I/I, I/D and D/D, respectively, while for ACTN3 33.3% had XX, 12.5% had RX, and 54.2% had RR genotypes. A study of the Gln12Ter (C/T) genetic polymorphism of the AMPD gene showed that 83.3% of football boys have the SS genotype. Functionally defective T-allele was found in 10.4% of children. Genotyping of the UCP2 gene (G-866A), a regulator of energy balance, found that 77% of children in this group are carriers of the G allele, and the A allele is present in 23% of boys. Thus, the identified some unfavorable genetic variants will allow to adjust the state of the organism and preventive schemes of pathology, including dental, with the help of individual medical and biological support.

25(OH)D AS A RISK FACTOR OF ESSENTIAL ARTERIAL HYPERTENSION CONSIDERING THE GENES POLYMORPHISM AGTR1 (RS5186) AND VDR (RS2228570)

Objective: Essential arterial hypertension (EAH) remains the most common global non-communicable disease. More than 50% of patients with hypertension have additional cardiovascular risk factors. The aim of this study is to establish the role of 25-hydroxyvitamin D as an additional risk factor of EAH depending on 1166A&gt;C polymorphism of AGTR1 gene (rs5186) and A/G polymorphism of VDR gene (rs2228570). Design and method: 100 subjects with EAH and target-organ damaging (2nd stage), moderate, high, very high cardiovascular risk were involved in the case-control study. Among them, 70.84% females, 29.16% males, mean age 57.86 ± 7.81 yo. The control group consisted of 60 healthy individuals of relevant gender and age. All recruited subjects were tested for serum levels 25-hydroxyvitamin D (immune luminescent test “MAGLUMI’’, “SNIB’’, China). To detect gene polymorphism the qualitative real-time polymerase chain reaction was done. AGTR1 gene genotyping was performed for 72 patients and 48 healthy individuals and VDR gene – for 100 patients and 60 healthy subjects. Results: EAH associates with the decreased 25-hydroxyvitamin D (&lt;30 ng/ml) regardless the genotypes AGTR1 (rs5186) and VDR (rs2228570) genes. Reduced serum level of 25-hydroxyvitamin D escalate the risk of EAH almost threefold (OR – 2.90; 95%CI OR:1.0–8.59; p = 0.048). Conclusions: Low level of 25-hydroxyvitamin D increases the EAH risk regardless the AGTR1 (rs5186) and VDR (rs2228570) genes’ alleles in the examined population.

Impact of Solute Carrier Family 47 Member 1 Gene Polymorphism Detection on Therapeutic Effect of Diabetes

Impact of Solute Carrier Family 47 Member 1 Gene Polymorphism Detection on Therapeutic Effect of Diabetes

A panel design of gene polymorphism detection of metabolic dysfunction-associated fatty liver disease in East Asian population

The aim of this study was to design a panel of gene polymorphism detection of MAFLD in East Asian population based on current research. Literature search was conducted in PubMed database using the keywords "metabolism-related fatty liver" or "non-alcoholic fatty liver" and "Asia" or "East Asia" and "gene”. 41 studies met the inclusion criteria, and 12 key genetic loci were screened out involving FTO, KLB, PNPLA3, TRIB1, PPARα, LEPR, APOA5, TM6SF2, APOC3, GCKR, SREBP2, MTTP, associating with obesity, insulin resistance, glucose metabolism, fatty acid metabolism, and inflammatory fibrosis pathways. The panel was designed successfully, while the sensitivity and specificity remain to be further clinically validated.

Brain Magnetic Resonance Imaging Features of Nicotine-Dependent Individuals and Its Correlation with Polymorphisms of Dopamine D Receptor Gene.

The aim of this research was developed to provide a scientific basis for individualized prevention, clinical diagnosis, and corrective treatment of nicotine addiction. The objects were 214 cases in the smoke group and 43 cases in the control group. According to the Fagerstrom Nicotine Dependence Test (FTND), the smokers were divided into mild nicotine dependence group (FTND < 6 points, 138 cases) and nicotine severe dependence group (≥6 points, 76 cases). The brain structure in long-term smokers was evaluated by using magnetic resonance imaging (MRI). The nicotine dependence was further analyzed by grouping the included individuals, and some candidate genes related to nicotine addiction were screened by combining with bioinformatics analysis. The family research strategy was adopted to detect nicotine addiction susceptibility genes and their polymorphisms. The MRI imaging results showed that the bilateral thalamus, right parietal, and left lens gram-molecule volume (GMV) were negatively correlated with smoking index and smoking years in the smoking group. The GMV of the posterior cingulate cortex in the severe nicotine dependence group was lower than that of the control group, and the GMVs of bilateral thalamus and bilateral superior limbic gyrus in the mild nicotine dependence group were lower than those of the control group. The gene polymorphism detection showed that rs6275 was highly polymorphic in the target population and the frequency of rs6275-C allele was 53.26%. Therefore, the MRI imaging characteristics suggested that the affected brain regions of smokers and people with varying degrees of nicotine dependence were mainly concentrated in response-related pathways and the limbic system and had cumulative effects on the central nervous system. In addition, the M6275 polymorphism of DRD2 gene was associated with susceptibility to nicotine addiction in Chinese population, and the M6275-C allele had a protective effect on susceptibility to nicotine addiction and smoking initiation.

Association of Hydroxy (Steroid) Dehydrogenase 11b1 Gene with Type 2 Diabetes Mellitus in Egyptian Population

Abstract Background Type 2 diabetes mellitus is a heterogeneous group of metabolic disorders caused by the interaction between genetic predisposition and environmental factors. The incidence of type 2 diabetes mellitus has increased over the last decades with more than 170 million individuals suffering from type 2 diabetes mellitus all over the world which imposes a greater economic impact on individuals, families and health systems. Though the genetic susceptibility to type 2 diabetes mellitus is polygenic, single nucleotide polymorphisms (SNP) at Hydroxy steroid dehydrogenase (HSD11B1) gene have been strongly associated with type 2 diabetes risk in various populations and ethnic groups. Objectives The aim of this study is to assess the association of Hydroxy-Steroid-Dehydrogenase-11B1 gene (rs846910) with type 2 diabetes mellitus in a sample of Egyptian population. Patients and Methods In the present study, we included 60 diabetic obese patients and 40 age and sex-matched controls. The mean age of the included patients was 50.26 ±9.1 year; while the majority of them were females (70%). All the participating patients were subjected to detailed history and the following investigations: fasting blood sugar, post prandial sugar,HbA1c, and lipid profile. Detection of gene polymorphism by real time PCR was performed for all subjects in the study. Results The study showed that homozygous GG genotype was more prelevant than GA genotype. No significant difference between GG and GA in terms of fasting and postprandial sugar and in terms of lipid profile: cholesterol (p = 0.642), TG (p = 0.808), LDL (p = 0.238), and HDL (p = 0.945).It showed no statistically significant difference between cases and controls in terms of HSD11B1 polymorphism (rs846910). The regression analysis showed that the HSD11B1 polymorphism did not significantly increase the risk of diabetes mellitus (OR 1.724, 95% CI [0.601 – 4.94]). Conclusion In conclusion, multiple further studies involving other single nucleotide polymorphism of 11 beta hydroxysteroid dehydrogenase gene as well as other genes involved in type 2 diabetes mellitus and obesity need to be done.

Correlation study of CYP2C19 gene polymorphism and clopidogrel resistance in Han Chinese patients with cerebral infarction in Guizhou region.

This study conducts a correlation exploration of CYP2C19 gene polymorphism and clopidogrel resistance in Han Chinese patients with cerebral infarction in Guizhou Region.A total of 270 Han Chinese patients with cerebral infarction, who were hospitalized in our hospital from January 2016 to January 2018, are selected. These patients were divided into 2 groups, clopidogrel resistance group (n = 60) and clopidogrel sensitive group (n = 210). According to the TEG results, the CYP2C19 gene polymorphism detection was carried out by using the PCR-RFLP method, while IL-6 level in the patient's blood was measured by using the ELISA method.The resistance group occupies 22.22%. The platelet inhibition ratio of the resistance group was 23 ± 7%, which was significantly lower than that of the sensitive group (65 ± 13%), and the difference was statistically significant (P < .05). The Logisitic regression analysis revealed that the history of diabetes, history of high blood pressure, increase in low density lipoprotein and CYP2C19 mutant gene were independent risk factors of clopidogrel resistance. After treatment, the serum IL-6 level of patients in the resistance group was 17.21 ± 0.98 ng/L, which was significant higher than that of patients in the sensitive group (11.21 ± 0.68 ng/L), and the difference was statistically significant (P < .05).Patients with cerebral infarction in Guizhou region have a higher occurrence rate of clopidogrel resistance. Clopidogrel resistance not only will weaken the anti-inflammatory action of the drug, but also correlates with the patient's CYP2C19 mutant gene and blood lipid level.

Opportunities of Digital Technologies as a Tool for Improving and Personalizing Specialized Nutrition

The possibilities of nutrigenomics as an approach to determining the effectiveness of specialized food products have been studied. For this purpose, the influence of consumption of whey protein concentrate FitPROTEIN and the carrier of branched-chain amino acids SPORTAMIN®BCAA 6000 on the expression of the target gene FTO was determined. Despite a certain similarity in the composition of these products, their effect on the average level of FTO gene expression is significantly different. The results obtained are discussed from the standpoint of identification of the target gene, detection of gene polymorphism, analysis of expression data and the possibility of updating these procedures using digital technologies. An algorithm for evaluating the effectiveness of specialized food products based on nutrigenomic studies is proposed. Nevertheless, it seems promising to transfer experimentation to the virtual sphere through the use of digital twins, including in combination with the Internet of Things.