Difference In Genotype Distribution Research Articles

Angiotensin-Converting Enzyme Insertion/Deletion Gene Polymorphism in Chronic Rhinosinusitis with Nasal Polyps.

Inflammatory processes play a role in the etiopathogenesis of chronic rhinosinusitis. Many gene polymorphisms have been associated with inflammation. In this study, we aimed to examine the relationship between angiotensin-converting enzyme insertion/deletion gene polymorphism and chronic rhinosinusitis. Fifty-two cases with nasal polyps and 139 control patients were included in the study. Angiotensin-converting enzyme insertion/deletion gene polymorphisms, genotype, and allele distributions were determined. Results were statistically compared between groups. Statistically significant differences were found between the chronic rhinosinusitis with nasal polyps group and the control group in terms of genotype and allele distribution (p=0.015, 0.003, respectively). There were no significant differences in genotype distribution in the chronic rhinosinusitis with nasal polyps group in terms of non-steroidal anti-inflammatory drug (NSAID) allergy, asthma, and NSAID-exacerbated respiratory disease (p=0.645, 0.660, 0.095, respectively). We observed that the risk of chronic rhinosinusitis is higher in individuals with the deletion-deletion genotype and D allele of the angiotensin-converting enzyme insertion/deletion gene polymorphism. We believe that these results could be related to the high angiotensin-converting enzyme levels in these patients.

The association between vitamin D receptor gene polymorphism FokI and type 2 diabetic kidney disease and its molecular mechanism: a case control study

BackgroundThe role of the vitamin D receptor single nucleotide polymorphism FOKI (VDR-FOKI) (rs2228570) in genetic susceptibility to type 2 diabetic kidney disease (T2DKD) remains uncertain. This study investigated the relationship between VDR-FOKI and T2DKD within the Chinese Plateau Han population and analyzed the underlying mechanisms.MethodsA total of 316 subjects were enrolled, including 44 healthy adults, 114 individuals with type 2 diabetes mellitus (T2DM), and 158 patients with T2DKD. According to the 2023 American Diabetes Association Diabetes Guidelines, patients with T2DKD were categorized into low-medium-risk and high-risk groups based on estimates of glomerular filtration rate and urinary albumin-to-creatinine ratio. The VDR-FokI genotypes of all participants were identified using the Taqman probe and classified as homozygous mutant genotypes (C/C or FF), heterozygous mutant genotypes (C/T or Ff), and homozygous wild genotypes (T/T or ff). Plasma levels of malondialdehyde (MDA), glutathione (GSH), and superoxide dismutase activity (SOD) were assessed in T2DKD patients with FF and ff genotypes. Additionally, the levels of plasma VDR, GPX4, and P53 were determined using ELISA, while the relative expressions of VDR mRNA, GPX4 mRNA, and TP53 mRNA in whole blood were measured by RT-qPCR.ResultsThe T2DM patients with the ff genotype exhibited a 2.93-fold increased likelihood of developing T2DKD compared to those with the FF genotype (ORadjusted = 2.93; 95% CI: 1.142–7.513). Additionally, they were 2.01 times more likely to develop T2DKD than individuals with the FF and Ff genotypes (ORadjusted = 2.01; 95% CI: 1.008–4.006). However, no significant differences in VDR-FokI genotype distribution were observed between the healthy control group and the T2DM group, as well as between the low-medium-risk and high-risk groups of T2DKD. Furthermore, T2DKD patients with the ff genotype had significantly higher plasma levels of MDA compared to those with the FF genotype. In contrast, plasma GSH and SOD content was significantly lower in the ff genotype patients (P < 0.05). Additionally, the GPX4 concentration in ff genotype patients was significantly lower than in FF genotype patients [14.88 (11.32,22.39) vs. 12.76 (8.55,13.75), P = 0.037]. Nevertheless, no statistically significant difference was observed in the expression of VDRmRNA, GPX4mRNA, TP53mRNA, plasma VDR, and plasma P53.ConclusionsThe ff genotype of VDR-FokI is a risk factor for T2DKD, and the potential mechanism may be related to ferroptosis. However, It is not associated with T2DM or the progression of T2DKD.

Study of Variation of ACOX1 Gene Among Different Horse Breeds Maintained in Iran.

The ACOX1 gene is vital for fatty acid metabolism and is linked to environmental stress and physical exertion adaptation. The p.Asp237Ser variant (rs782885985) in ACOX1 is associated with increased enzyme activity and reactive oxygen species (ROS) levels. This study examined the ACOX1 polymorphism across six horse breeds in Iran: Arabian, Thoroughbred, KWPN, Caspian, Kurdish, and Turkmen. The goal was to identify differences in ACOX1 genotype distribution, potentially serving as genetic markers under selection pressure related to breed-specific traits. In a sample of 324 horses, genomic DNA was analyzed using PCR-RFLP, revealing three genotypes (TT, TG, GG). The GG genotype was most common in Kurdish and Arabian horses (86% and 70%, respectively), while the TT genotype was prevalent in Turkmen (24%) and Thoroughbred horses (23%). The T allele's frequency in Thoroughbred and Turkmen horses suggests that ACOX1 may be under selection pressure for phenotypic traits. Differences in genotype distribution were confirmed among breeds, with no sex-based association. The study concludes that ACOX1 is a potential genetic marker for horse performance and adaptability, emphasizing the importance of genetic diversity in breeding programs.

Impact of GRM7 Gene Variations on Glioblastoma Risk in the Iranian Population

AIMThe metabotropic glutamate receptor, GRM7 is a gene in the neurotransmitters prognostic signatures. Downregulation of this gene is associated with the progression of glioma tumors and has a negative impact on the immune response. MethodsIn the present study, we aim to assess the associations between rs6782011 and rs779867 SNPs within this gene and risk of glioblastoma multiforme (GBM) in Iranian population. ResultsThere was a noteworthy difference in distribution of genotypes (P value=0.001) and alleles (P value= 0.0002) of rs779867 between total GBM cases (n=299) and total normal controls (n=302). In addition, the significant difference in genotypes and alleles distribution was observed for both male and female GBM cases vs. respective normal controls. For rs6782011 variant, the significant difference in genotypes distribution was observed between male GBM cases (n=187) vs. respective normal controls (n=156) (P value=0.004) and between total GBM cases (n=299) vs. total normal controls (n=302) (P value=0.02). However, there was no significant difference in genotypes distribution between female GBM cases and respective normal controls (P value= 0.1). Distribution of rs6782011 alleles was not different between total GBM cases and normal controls; and between male GBM cases and male normal controls. However, there was a significant difference in alleles distribution between female GBM cases and female normal controls. Conclusion: Taken together, the mentioned polymorphisms might affect risk of GBM in Iranian population. Future studies are needed to elaborate the underlying mechanism.

Association of Methylenetetrahydrofolate Reductase Gene rs1801133 Polymorphism and Controlling Nutritional Status (CONUT) Score with Colorectal Cancer Susceptibility.

Susceptibility to some cancers is linked to methylenetetrahydrofolate reductase (MTHFR) polymorphisms and the Controlling Nutritional Status (CONUT) score in some populations. However, their relationship with susceptibility to colorectal cancer (CRC) susceptibility in the Hakka Chinese population remains unclear. In total, 620 CRC patients and 734 controls were enrolled. MTHFR rs1801133 was genotyped, medical records (age, sex, smoking history, alcohol consumption, hypertension, diabetes mellitus, and family history of cancer, and blood cell parameters) were collected, and the relationship between this information and CRC susceptibility was analyzed. There were significant differences in the distribution of CONUT classification (p=0.002), and proportions of history of smoking (p<0.001), hypertension (p<0.001), diabetes mellitus (p<0.001), and family history of cancer (p=0.002) between patients and controls. There were statistically significant differences in MTHFR rs1801133 genotypes distribution (58.7% C/C, 35.5% C/T, and 5.8% T/T in patients vs 65.5%, 31.2%, and 3.3% in controls, p=0.010) and allele distribution (76.5% C, and 23.5% T allele in patients vs 81.1%, and 18.9% in controls, p=0.003) between patients and controls. Logistic regression analysis indicated that non-normal CONUT range (non-normal vs normal, odds ratio (OR): 1.451, 95% confidence interval (CI): 1.119-1.882, p=0.005), and MTHFR rs1801133 variant (C/T + T/T vs C/C, OR: 1.373, 95% CI: 1.091-1.728, p=0.007), older age (≥65 vs <65 years, OR: 1.298, 95% CI: 1.023-1.646, p=0.032), male sex (OR: 1.354, 95% CI: 1.067-1.718, p=0.013), and history of alcohol drinking (OR: 2.232, 95% CI: 1.164-4.282, p=0.016) were independently associated with CRC risk. Individuals carried MTHFR rs1801133 variant and with non-normal CONUT range, advanced age, history of alcohol consumption may be at increased CRC risk in the Hakka population.

The Association between EPHX1 Gene Polymorphisms and Lung Cancer among Jordanian People.

Genetic susceptibility to lung cancer is the subject of extensive research. We investigated whether polymorphisms in the microsomal epoxide hydrolase (EPHX1) gene is linked to lung cancer susceptibility in Jordanian patients. In this case-control study a total of 218 subjects from Jordan University Hospital and King Hussein Cancer Center were screened (108 lung cancer patients and 110 matched controls). Polymerase chain reaction-restriction fragment-length polymorphism (PCR-RFLP) was used to detect the two common polymorphisms in EPXH1 located in exons 3 and 4; namely, amino acid substitution from tyrosine to histidine at residue 113 of exon 3 (Tyr113His; low activity allele) and amino acid substitution from histidine to arginine at residue 139 of exon 4 (His139Arg; high activity allele). There was no significant difference in genotype distribution between control subjects and lung cancer patients. In addition, no differences were found when evaluated according to age, gender or tobacco consumption. For exon 3 the adjusted OR was 0.970 (95% CI 0.473 - 1.991) for the Tyr113/His113 genotype and 0.692 (95% CI 0.301 - 1.590) for the Tyr113/Tyr113 genotype, respectively. For exon 4 the adjusted OR was 0.596 (95% CI 0.297-1.197) for the His139/Arg139 genotype and 0.882 (95% CI 0.117- 6.660) for the Arg139/Arg139 genotype, respectively. Logistic regression analysis did not show differences in EPXH1 distributions between patients and controls when categorized according to predicted microsomal epoxide hydrolase activity. Therefore, common polymorphisms within EPHX1 do not appear to be significant risk factors for lung cancer development in the Jordanian population. No associations were observed between lung cancer risk and EPXH1 polymorphisms in the Jordanian population.

Unveiling the genotypic diversity of Candida albicans and Candida dubliniensis in the oral cavities of drug abusers in Ahvaz, Iran

Candida albicans is a diploid yeast that, under certain conditions, can cause oral or oropharyngeal infections, particularly in immunocompromised individuals. Recent molecular investigations have classified genotypes A, B, and C for Candida albicans, along with genotype D for Candida dubliniensis. This study aimed to identify the different genotypes of the C. albicans complex in drug abusers in Iran. Oral swabs were collected from drug abusers and cultured on CHROMagar Candida. A 21-plex PCR method was employed for the detection of isolates, and the Candida 25S rDNA gene was amplified using primer pairs CA-INT-L and CA-INT-R for ABC genotyping of C. albicans. Out of the 245 substance abusers screened, 151 individuals (61.63 %) were found to harbor the C. albicans complex. The most common genotype among patients was genotype D (39.1 %), followed by genotype A (31.12 %), genotype B (9.93 %), and genotype C (5.29 %). Additionally, 14.56 % of patients had a mixed genotype. Notably, significant differences in genotype distribution were observed in relation to age, underlying diseases, and marital status (P < 0.05). This study highlights the significance of molecular genotyping in understanding the epidemiology of C. albicans and C. dubliniensis in at-risk groups.

The association of gene polymorphisms of adenosine and dopamine receptors with the response to caffeine citrate treatment in infants with apnea of prematurity: a prospective nested case-control study

BackgroundTo investigate the potential influence of adenosine and dopamine receptor genes polymorphisms in combination with clinical factors on the response of preterm infants to caffeine citrate treatment in apnea of prematurity (AOP).MethodsA prospective nested case-control study enrolled 221 preterm infants with gestational age < 34 weeks. These infants were divided into the response (n = 160) and the non-response groups (n = 61). 22 single-nucleotide polymorphisms in adenosine and dopamine receptor genes were genotyped. The basic characteristics and clinical outcomes of the two groups were compared. Univariate logistic regression analysis was performed to evaluate the differences in genotype distribution between the groups. Multivariable logistic regression analysis was performed to identify independent risk and protective factors and develop a nomogram to predict caffeine citrate response in preterm infants.ResultsPreterm infants in the non-response group had lower gestational age, lower birth weight, longer periods of oxygen supplementation and caffeine citrate use, and higher incidence of patent ductus arteriosus (PDA), bronchopulmonary dysplasia (BPD), neonatal respiratory distress syndrome (NRDS), retinopathy of prematurity (ROP), and brain injury (P < 0.05 for all). The ADORA1 rs10920573, ADORA2B rs2015353, ADORA3 rs10776728, DRD3 rs7625282, and DRD3 rs6280 gene polymorphisms were associated with caffeine citrate response in preterm infants (PFDR < 0.05 for all). The ADORA1 rs10920573 CC (aOR, 3.51; 95% CI, 1.34–9.25) and DRD3 rs6280 CT genotypes (aOR, 3.19; 95% CI, 1.53–6.65) were independent risk factors for non-response, whereas greater gestational age (aOR, 0.631; 95% CI, 0.53–0.75) was an independent protective factor for response. The concordance index of the nomogram was 0.764 (95% CI, 0.687–0.842), and the calibration and decision curve analysis indicated the nomogram had excellent predict performance.ConclusionsAdenosine receptor gene and dopamine receptor gene polymorphisms influence caffeine citrate treatment response in AOP. By combining genetic and clinical variables, it is possible to predict the response to caffeine citrate treatment in preterm infants.

Prevalence of extended-spectrum β-lactamase-producing Enterobacterales and carbapenemase-resistant Enterobacterales in British military cohorts

IntroductionTravel to resource-limited settings is a known risk for acquisition of extended-spectrum β-lactamase-producing Enterobacterales (ESBL-PE) and carbapenem-resistant Enterobacterales (CRE), which are both associated with increased morbidity and mortality. We investigated...

Association study reveals a susceptibility locus with male pattern baldness in the Han Chinese population.

Male pattern baldness (MPB), also known as androgenetic alopecia, represents the most prevalent form of progressive hair loss in humans. It is characterized by a distinctive pattern of hair loss progression from the scalp; however, its underlying mechanism remains elusive and is influenced by hereditary, immune, and environmental factors. Genome-wide association studies (GWASs) have uncovered numerous risk genes/loci among European individuals with MPB. However, the validation of these susceptibility genes/loci within Han Chinese men remains largely unexplored. The aim of this study was to investigate whether the 71 susceptibility loci identified in a recent GWAS among European men also confer risk for MPB in Chinese men. Forty-seven single nucleotide polymorphisms (SNPs) previously reported in GWASs of MPB were selected and genotyped in independent individuals comprising 499 Han Chinese cases and 1,489 controls using the Sequenom MassArray system. After stringent quality control measures, 25 SNPs were subjected to statistical analyses. Cochran-Armitage trend test was used to evaluate the association between SNPs and disease susceptibility. To address multiple tests, Bonferroni correction was conducted, setting the threshold for statistical significance at a p-value <2 × 10-3 (0.05/25). The rs13405699 SNP located at 2q31.1 exhibited a significant association with MPB in Han Chinese men (p = 4.84 × 10-5, OR = 1.37, 95% CI: 1.18-1.59). Moreover, the difference in rs13405699 genotype distribution between MPB cases and controls was statistically significant (p = 7.00 × 10-5). Genotype-based association analysis suggested that the recessive model provided the best fit for the rs13405699 polymorphism. This study represents the first confirmation of the association between the rs13405699 SNP at 2q31.1 and MPB within the Han Chinese population, thereby enhancing our understanding of the genetic underpinnings of MPB.

The implication of ADRA2A and AVPRIB gene variants in the aetiology of stress-related bipolar disorder

ObjectiveBipolar disorder is a complex and severe mental illness characterised by manic and depressive episodes that can be triggered and exacerbated by psychosocial, environmental, and biological stressors. Genetic variations are a risk factor for bipolar disorder. However, the identification of the exact gene variants and genotypes remains complex. This study, therefore, aims to identify the potential association between genotypes of analysed single nucleotide polymorphisms and the presence of a stressor in bipolar disorder patients. MethodWe analysed 114 single nucleotide polymorphisms (SNPs) from bipolar and stress-related candidate genes in 550 patients with bipolar disorders (60.36 % females and 39.64 % male). We compared SNPs of patients reporting the presence (40.73 %) or absence of stressors (59.27 %) before the first episode using the Persons Chi-square test and Bayes Factor t-test. The genotyping of 114 SNPs was done using TaqMan assays. Statistical analysis was done using Statistica 13.3 software (StatSoft Poland, Krakow, Poland), R programming, and G*Power statistics. ResultWe found significant differences in genotype distribution (p < 0.05) in 6 polymorphisms (AVPRIB/rs28536160, FKBP4/rs2968909, ADRA2A/rs3750625, 5HTR2A/rs6311, 5HTR2A/rs6313, and GLCCI1/rs37972) when comparing BD patient with and without stressor with a small effect of d = 0.2. Of these, two gene variants (ADRA2A/rs3750625/AC and AVPRIB/rs28536160/CT) with minor alleles formed an association with the presence of a stressor prior to the disease onset and favoured the alternative hypothesis using Bayes Factor Analysis t-test for hypothesis testing. ConclusionThis study presents a novel association of ADRA2A/rs3750625/AC and AVPR1B/rs28536160/CT gene variants in stress-related bipolar disorder with the AC genotype of ADRA2A/rs3750625 constituting a risk genotype and CT of AVPR1B/rs28536160 constituting a protective genotype. However, further functional analysis is required to fully understand their clinical and biological significance and interaction.

Study on the Polymorphic Loci of Explosive Strength-Related Genes in Elite Wrestlers.

This investigation aimed to explore the relationship between Chinese elite wrestlers and the polymorphic loci of explosive strength genes, and to further explore the feasibility of its application to athlete selection. The snapshot technique was used to resolve the polymorphic loci of explosive power genes in the wrestler group (59 elite wrestlers) and the control group (180 ordinary college students), and to analyze the genotype frequencies and allele frequencies of each group. A chi-square test was performed on the genotype and allele distribution data of each group to analyze the loci of explosive power genes that were associated with elite wrestlers. The loci that had an association with elite wrestlers were combined with the genotyping data, and the dominance ratios of the genotypes were calculated using the chi-square test to determine the dominant genotypes associated with elite wrestlers. The VDR gene rs2228570 locus exhibited statistically significant differences in genotype and allele distributions between elite wrestlers and the general population (p < 0.01). At the rs2228570 locus of the VDR gene, the difference between the CC genotype and other genotypes was statistically significant (p < 0.05). The rs2228570 locus of the VDR gene was identified as the locus associated with Chinese elite wrestlers. The polymorphism of the VDR gene can be used as a biomarker for Chinese wrestlers, and the CC genotype can be used as a molecular marker for the selection of Chinese elite athletes in this sport. However, expanding the sample size of elite athletes is necessary to further validate the scientific validity and feasibility of these findings.

Identification of genetic susceptibility for Chinese migraine with depression using machine learning.

Migraine is a common primary headache that has a significant impact on patients' quality of life. The co-occurrence of migraine and depression is frequent, resulting in more complex symptoms and a poorer prognosis. The evidence suggests that depression and migraine comorbidity share a polygenic genetic background. The aim of this study is to identify related genetic variants that contribute to genetic susceptibility to migraine with and without depression in a Chinese cohort. In this case-control study, 263 individuals with migraines and 223 race-matched controls were included. Eight genetic polymorphism loci selected from the GWAS were genotyped using Sequenom's MALDI-TOF iPLEX platform. In univariate analysis, ANKDD1B rs904743 showed significant differences in genotype and allele distribution between migraineurs and controls. Furthermore, a machine learning approach was used to perform multivariate analysis. The results of the Random Forest algorithm indicated that ANKDD1B rs904743 was a significant risk factor for migraine susceptibility in China. Additionally, subgroup analysis by the Boruta algorithm showed a significant association between this SNP and migraine comorbid depression. Migraineurs with depression have been observed to have worse scores on the Beck Anxiety Inventory (BAI) and the Migraine Disability Assessment Scale (MIDAS). The study indicates that there is an association between ANKDD1B rs904743 and susceptibility to migraine with and without depression in Chinese patients.

Exploring the Influence of Fok1/Apa1 Polymorphic Variants on Adolescent Mental Health and Response to Vitamin D Supplementation in Embryonic Hippocampal Cell Lines.

Several single nucleotide polymorphisms (SNPs) of the vitamin D receptor (VDR) have been observed in association with susceptibility to various pathologies, including autism, major depression, age-related changes in cognitive functioning, and Parkinson's and Alzheimer's diseases. This study aimed to establish the association between Fok1/Apa1 polymorphic variants and anxious/depressive symptoms in nonclinical adolescents from central Italy, with the goal of identifying the risk of developing both symptoms. We found no significant difference in genotype distribution or dominant/recessive models of Fok1/Apa1 VDR polymorphic variants between subjects with anxious/depressive symptoms and controls. HN9.10e cell lines carrying the AA genotype for Fok1 and the CC genotype for Apa1 responded better to treatment with vitamin D3 than cell lines carrying the AG genotype for Fok1 and CA genotype for Apa1. Cell lines carrying the GG genotype for Fok1 and the AA genotype for Apa1 did not respond at all, suggesting avenues for future studies in both the general population and individuals with mental and/or neuropsychiatric disorders. These studies suggest that the level of response to vitamin D3 administered to prevent and/or treat mental or neurological disorders could depend on the polymorphic variants of the vitamin D receptor.

TNF-alfa Gene Polymorphism Associations with Multiple Sclerosis.

Background:TNF-α has a dual role in multiple sclerosis (MS), contributing to both protective and harmful effects. It activates immune cells, promotes the formation of inflammatory lesions in the central nervous system, and stimulates the production of other pro-inflammatory cytokines and chemokines, leading to myelin destruction and neuronal damage. Our research focused on investigating the relationship between TNF-alpha (rs1800630, rs1800629, and rs361525) gene polymorphisms and MS. Methods: 250 healthy controls and 250 multiple sclerosis (MS) patients were included in the study. DNA was extracted from leucocytes from peripheral venous blood by salt precipitation. Single nucleotide polymorphisms (SNPs) were tested using RT-PCR. Statistical analysis of the data was performed using IBM SPSS Statistics 29.0 data analysis software. Results: The analysis revealed that the rs361525 AG genotype was significantly less frequent in the MS group compared to the control group (4.0% vs. 7.2%, p = 0.042). Sex-specific analysis showed a significant difference in genotype distribution (GG, AG, AA) among males between the MS group and the control group (97.7%, 0%, 2.3% vs. 90.6%, 9.4%, 0%, p = 0.005). For the rs1800629 polymorphism, significant results were also found. In subjects younger than 39 years, the A allele was significantly less frequent in the MS group than in the control group (8.6% vs. 15.0%, p = 0.030). The most robust model indicated that the AA genotype reduced the odds of MS by approximately 2 fold compared to the AG + GG genotype (p = 0.044), and each A allele reduced the odds of MS by approximately 2 fold (p = 0.028). The rs1800630 A allele was significantly more common in males in the MS group than in the control group (21.0% vs. 12.9%, p = 0.046). Conclusions: In conclusion, our study identifies significant associations between TNF-alpha gene variants and MS. Specifically, the rs631525 AG genotype was less common in the MS group, with notable sex-specific differences observed. The rs1800629 A allele was statistically significantly less frequent in the MS group than in the control group, and the AA genotype reduced the odds of MS occurrence by ~2 fold compared with the AG + GG genotypes. Additionally, each A allele of rs1800629 was linked to a 2-fold decreased odds of MS occurrence. In males, the rs1800630 A allele was more frequent in the MS group. These findings highlight the relevance of TNF-alpha genetic variations in MS susceptibility, suggesting potential avenues for further research and therapeutic exploration.

Australian Rotavirus Surveillance Program Annual Report, 2022.

This report from the Australian Rotavirus Surveillance Program describes the circulating rotavirus genotypes identified in children and adults during the period 1 January to 31 December 2022. After two years of a lower number of stool samples received as a result of the coronavirus disease 2019 (COVID-19) pandemic, this reporting period saw the highest number of samples received since the 2017 surveillance period, with samples received from all states and territories. During this period, 1,379 faecal specimens had been referred for rotavirus G- and P- genotype analysis, of which 1,276 were confirmed as rotavirus positive. In total, 1,119/1,276 were identified as wildtype rotavirus, 155/1,276 identified as the Rotarix vaccine strain and 2/1,276 that could not be confirmed as vaccine or wildtype due to sequencing failure. Whilst G12P[8] was the dominant genotype nationally among wildtype samples (28.2%; 315/1,119), multiple genotypes were identified at similar frequencies including G9P[4] (22.3%; 249/1,119) and G2P[4] (20.3%; 227/1,119). Geographical differences in genotype distribution were observed, largely driven by outbreaks reported in some jurisdictions. Outbreaks and increased reports of rotavirus disease were reported in the Northern Territory, Queensland, and New South Wales. A small number of unusual genotypes, potentially zoonotic in nature, were identified, including: G8P[14]; G10[14]; caninelike G3P[3]; G6P[9]; and G11P[25]. Ongoing rotavirus surveillance is crucial to identify changes in genotypic patterns and to provide diagnostic laboratories with quality assurance by reporting incidences of wildtype, vaccine-like, or false positive rotavirus results.

Investigation of PD-1 gene variants in patients with endometrial cancer: A case-control study.

To assess the possible association of two single-nucleotide polymorphisms (SNPs), PD-1.3 (+7146G/A) and PD-1.5 (+7785C/T), with endometrial cancer (EC) susceptibility. In addition, the correlations between these SNPs and available clinicopathologic characteristics of patients with EC were investigated. In this case-control study, 147 women with pathologically confirmed EC and 258 age- and ethnically matched healthy women were enrolled between June 2019 and May 2022. Genomic DNA was extracted, and genotyping of PD-1.3 (+7146G/A) and PD-1.5 (+7785C/T) SNPs was performed. Haplotype analysis was also performed. Pearson's chi-square test with Yates correction was used to evaluate differences in allele and genotype distributions. The 95% confidence interval and odds ratio were determined using an unconditional logistic regression model. There were no remarkable differences in the allele and genotype distributions of PD-1.3 (rs11568821) and PD-1.5 (rs2227981) between healthy controls and EC patients. However, there was a remarkable difference in the AC haplotype between the control and EC groups. No association was found between the investigated SNPs and the clinicopathologic features of EC. Our results indicated that the aforementioned SNPs were not related to the risk of EC in the southern Iranian population.

Genetic Foundation of Prostaglandin Metabolism Influences Patent Ductus Arteriosus Closure in Extremely Low Birth Weight Infants.

Prostaglandins (PGs) play a major role in maintaining patency of the ductal arteriosus (DA). Pulmonary 15-hydroxyprostaglandin dehydrogenase (PGDH), which is ecoded by the hydroxyprostaglandin dehydrogenase (HPGD) gene, is the primary enzyme responsible for PG breakdown. Animal studies have shown HPGD-knockout mice have significantly higher prostaglandin E2 levels and no ductal remodeling. Functional variants of the HPGD gene that alter PG breakdown have not been studied in preterm infants with patent ductus arteriosus (PDA). This was an observational cohort study including extreme low birth weight (ELBW) infants classified as having spontaneous, medical, or procedural (transcatheter or surgical ligation) closure of their DA. Urine prostaglandin E metabolite (PGEM) levels were measured in ELBW infants following ibuprofen treatment using competitive ELISA. HPGD genetic variants rs8752, rs2612656, and rs9312555 were analyzed. Kruskal-Wallis, Fisher's exact, chi square, logistic regression, and Wilcoxon signed-rank tests were used; p < 0.05 was considered significant. Infants in the procedural closure group had a younger gestational age (GA). The incidence of spontaneous closure or medical closure was higher compared to procedural closure in the presence of any minor allele of rs8752 (67 and 27%, respectively; p = 0.01), when adjusted for GA and gender. Haplotype analysis of three variants of HPGD revealed differences when comparing the spontaneous and medical closure group to the procedural group (p < 0.05). Urinary PGEM levels dropped significantly in those ELBW infants who responded to ibuprofen (p = 0.003) in contrast to those who did not respond (p = 0.5). There was a different genotype distribution for the rs8752 genetic variant of the HPGD gene-as it relates to the mode of treatment for ELBW infants with PDA. We speculate that medical management in the presence of this variant facilitated additional PG breakdown, significantly abrogating the need for procedural closure. Additionally, differences in genotype and haplotype distributions implicate a specific HPGD genetic foundation for DA closure in ELBW infants. · PGs and their metabolism play a major role in PDA patency or closure.. · Genetic variants of the HPGD gene influence mode of treatment of PDA in ELBW infants.. · ELBW infants with PDA that responded to medical closure had significantly decreased urine PGEM levels..

АССОЦИАТИВНАЯ РОЛЬ ПОЛИМОРФИЗМА RS121908987 ГЕНА PRKAG2 В РАЗВИТИИ СИНДРОМА WPW

The study of cardiac arrhythmias and conduction is one of the most urgent and important tasks, since these diseases are often the cause of sudden cardiac death. We assumed that the study of the contribution of "predictor genes" of heart rhythm and conduction disorders would expand knowledge about the etiology and pathogenesis of these diseases. Thus, the purpose of our research was to study the contribution of the rs121908987 polymorphism of the PRKAG2 gene to the development of WPW syndrome. Material and methods: 200 patients with VPU syndrome were examined, among them men n=97 [18:32.66;81]; women n=103 [18;47,92;83]. All patients underwent clinical, laboratory, somatometric, instrumental studies, as well as molecular genetic studies DNA isolation was performed by the standard phenol-chloroform method. Genotyping of the PRKAG2 gene was performed by PCR-PDRF analysis (polymerase chain reaction-polymorphism of restriction fragment lengths). Statistical data processing was carried out using the Excel application software package, Statistica for Windows 10.0, IBM SPSS 20.Differences in the frequency distribution of alleles and genotypes of the PRKAG2 gene between the groups were assessed using the χ2 criterion. The relative risk of disease for a specific allele or genotype was calculated as the odds ratio (OR). Results: a statistically significant predominance of the heterozygous GA genotype in patients with VPU syndrome, compared with those in the control group (8 and 2%, respectively; Table 1). There was also a statistically significant predominance of allele A carriers in the group of patients with VPU syndrome by 4%, compared with those in the control group (2%). The risk of developing PRKAG2 genotype GA syndrome, estimated by OSH, was 2.09 times higher (95% CI 1.88–2.32; p &lt;0.001 compared with genotypes GG and AA, and in carriers of the A allele – 2.04 times higher (95% CI 1.90–2.19; p &lt;0.001) compared with allele A (see Table 2). Conclusions: The results of the study confirmed the contribution of polymorphism rs121908987 of the PRKAG2 gene to the development of VPU syndrome.

The relationship of the methylation status and polymorphism of glucocorticoid receptor gene (NR3C1) with attempted suicide or non-suicidal self-injury patients in schizophrenia.

We aim to investigate the methylation of NR3C1 gene promotor and NR3C1 BclI polymorphism in schizophrenia (SCZ) patients with attempted suicide or non-suicidal self-injury (NSSI). A sample of 112 patients with SCZ was included in the study. Structured Clinical Interview for Diagnostic and Statistical Manual-Fourth Edition Axis I Disorders was used to confirm the diagnosis according to The Diagnostic and Statistical Manual of Mental Disorders, fourth edition, text revision criteria. The patients were evaluated by data forms that had sociodemographic, suicidal behavior, and NSSI information. Methylation-specific polymerase chain reaction (PCR) was used to identify the methylation of the NR3C1 gene. The analysis of the BclI polymorphism of the NR3C1 gene was evaluated by using the PCR restriction fragment length polymorphism. Our results revealed that although the NR3C1 gene methylation was not statistically significantly different, there was a significant difference in NR3C1 genotype distribution among the SCZ groups with and without attempted suicide. SCZ patients carrying the CC genotype had a lower risk of attempted suicide (Odds Ratio [OR]: 0.421; 95% Confidence Interval [CI]: 0.183-0.970; p = 0.040), while having the GG genotype in SCZ patients was associated with a higher risk of attempted suicide (OR: 3.785; 95% Cl: 1.107-12.945; p = 0.042). Additionally, due to NSSI in SCZ patients, there were no significant differences in NR3C1 gene methylation and NR3C1 genotype distribution among the groups. We propose that the NR3C1 BclI polymorphism may be associated with attempted suicide in Turkish patients diagnosed with SCZ.