Genotype Distribution Research Articles

Proportion of adenocarcinoma and the distribution of HPV genotypes in China: a meta-analysis

Objectives: To examine the proportion and trends of cervical adenocarcinoma in cervical cancer (ICC), mainly including cervical adenocarcinoma (CADC) and squamous cervical cancer (SCC) in China, and to analyze the distribution of human papilloma virus (HPV) in CADC and SCC. Methods: Published studies reporting HPVs distribution in various histological types or relative proportions of CADC in ICC in China were identified manually and searched systematically in Medline, Embase, Cochrane Library databases, CNKI and Wanfang since the databases were established until October 2022. Meta-analysis was performed using Stata 16.0 software. And we applied the random-effects models to estimate the combined effect values due to the high heterogeneity. Results: Twenty-three studies were eligible. The relative prevalence of CADC was 9.0% (95% CI, 7.7%－10.3%). According to the diagnosis time of ICC, the patients were divided into three time periods, which is 1979-2005, 2006-2011, 2012-2022 respectively. The prevalence of CADC by time was: 6.0% in 1979-2005, 8.1% in 2006-2011, and 9.5% in 2012-2022, respectively, with no statistically significant trend in proportions over time (χ2=5.03, P=0.081). Meanwhile, the percentage of CADC also varies by regions, and the highest percentage of CADC was found in the eastern region (11.2%), followed by the western region (7.3%) and the central region (5.9%). The total prevalence of HPV infection in CADC was 72.3%, which was lower than 92.0% in SCC, and the difference was statistically significant (χ2=300.89, P＜0.01). To be specific, the top three HPV types prevalent in CADC were HPV18 (45.0%), HPV16 (22.0%), and HPV52 (7.3%), and those prevalent in the SCC were HPV16 (64.2%), HPV52 (5.6%), HPV18 (5.4%). The results of the Egger's test, and Begg's test showed that there was no publication bias in this study and sensitivity analysis showed that the results of this study were fairly stable. Conclusions: The proportion of CADC in China has increased in a limited way in the past decades, and there are regional differences in the proportion of CADC. The predominant type is HPV18 in CADC and HPV16 in SCC. To eliminate the limitations of the secondary literature, a multicenter study with consistent diagnostic levels and identical HPV genotyping tests is still needed in the future to better characterize the relative proportion of cervical adenocarcinoma and the trend of HPV changes, which will provide a basis for the improvement of HPV vaccine and screening policies.

HPV genotypes in invasive cervical cancer: prevalence, risk attribution, and optimized vaccine strategies in western China

BackgroundUnderstanding the HPV genotype distribution in invasive cervical cancer (ICC) is essential for vaccine optimization. This study presents a comprehensive analysis of HPV genotypes in ICC tissues from patients in western China, with the aim of informing regional vaccine policy and prevention strategies.MethodsDNA was extracted from 1,908 paraffin-embedded ICC samples, and 23 HPV genotypes were detected via PCR and reverse dot hybridization gene chip assays. The genotypic distribution of HPV infections was analyzed, the attribution of each HPV genotype found in multiple infection cases was calculated using the fractional contribution approximation. Furthermore, the cumulative attribution rates of HPV genotypes included in each vaccine combination were totaled to estimate the potential vaccination coverage of ICC across various histologic types and age groups.ResultsThe overall prevalence of HPV infection was 94.9% (95% CI 93.8–95.8) among 1,908 women with ICC. HPV genotypes 16 and 18 were detected in 1645 of 1810 HPV-positive patients (90.9, 95% CI 89.5–92.1) of ICC. HPV16, 18, 33, 52, and 58 were detected in 1,749 patients (96.6, 95% CI 95.7–97.4), the five most common genotypes in different age groups. HPV genotypes contained in the 9-valent vaccine were detected in 1776 patients (98.1, 95% CI 97.4–98.7). By weighted imputation analysis, the cumulative attribution rates of the bivalent vaccine was 83.4%, and that of the nine-valent vaccine was 89.8%. Optimization group A included the five genotypes with the highest prevalence, HPV16, 18, 33, 52, and 58, with a cumulative attribution rates of 88.5%, and optimization group B included the nine most common HPV genotypes, HPV16, 18, 31, 33, 35, 45, 52, 58, and 59, with a cumulative attribution rates of 90.5%.ConclusionOur comprehensive postsurgical analysis of HPV in ICC patients in western China revealed that the incorporation of the bivalent vaccine into the national program is cost-effective, with group A optimization closely matching the vaccination coverage of the 9-valent vaccine, which can be used to guide future prevention strategies.

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.

UCP2 45-bp insertion/deletion polymorphism and obesity phenotype in the Lebanese population: a preliminary study

BackgroundObesity is a significant health concern in Lebanon, contributing to various chronic diseases. Uncoupling Protein 2 (UCP2) plays a critical role in regulating metabolism, and genetic polymorphisms in the UCP2 gene, such as the 45-bp insertion (I)/deletion (D) polymorphism, may influence susceptibility to obesity. This study aims to assess the association between the UCP2 45-bp I/D polymorphism and obesity in a sample of the North Lebanese population. DNA was extracted from peripheral blood of 123 subjects that were categorized into "non-obese" and "obese" groups, with further stratified analysis based on age and physical activity levels. UCP2 45-bp I/D variants were screened using polymerase chain reaction (PCR). ResultsThe genotype frequencies of the UCP2 45-bp I/D polymorphism were as follows: D/D (46.3%), I/D (46.3%), and I/I (7.4%), with a minor allele frequency of 0.30. Statistical analyses, including Chi-squared tests and logistic regression, were conducted to explore the association between the UCP2 polymorphism and obesity. After adjusting for body mass index confounders and stratifying by physical activity and age, no significant differences were found in genotypic distributions: Stratum 1 (S1: irregular exercise, age < 40, P = 0.157), Stratum 2 (S2: irregular exercise, age ≥ 40, P = 0.192), and Stratum 3 (S3: regular exercise, age < 40, P = 0.160). Additionally, there were no significant differences in allelic distributions across these strata (S1: P = 0.514; S2: P = 0.869; S3: P = 0.681). Gender was also not associated with the UCP2 45-bp I/D polymorphism.ConclusionsThis study found no significant association between the UCP2 45-bp I/D polymorphism and obesity in the North Lebanese population, suggesting that this genetic variation may not play a major role in obesity risk. These results underscore the need for larger, region-wide studies to better assess the genetic contribution of UCP2 to obesity in Lebanon.

Helicobacter pylori resistance in Hainan Province, China: investigating phenotypes and genotypes through whole-genome sequencing

Helicobacter pylori is increasingly resistant to antibiotics, significantly lowering eradication rates and posing a major public health challenge. This study investigated the distribution of antibiotic-resistant phenotypes and genotypes of H. pylori in Hainan Province. It determined the minimum inhibitory concentrations (MICs) of six antibiotics using the E-test method and detected resistance genes via Sanger sequencing. Furthermore, we compared resistance detection based on phenotypic analysis and whole genome sequencing (WGS) across 19 clinical isolates of H. pylori. A total of 140 H. pylori strains were isolated. The resistance rates to levofloxacin (LEV), clarithromycin (CLA), and metronidazole (MTZ) were 37.9%, 40.0%, and 93.6%, respectively. Notably, only 3.3% of the strains were susceptible to all six antibiotics. Multidrug-resistant strains accounted for 25.0% of the total, with no resistance detected to amoxicillin (AMX), tetracycline (TET), or furazolidone (FR) during the study period. Genotypic resistance to CLA and LEV showed near-perfect concordance with phenotypic resistance, with Kappa values of 0.910 and 0.938, respectively. Although all isolates were phenotypically sensitive to TET, 16 exhibited a mutation in the 16S rRNA gene (A926G). All strains harboring the R16H/C mutation and truncated rdxA were resistant to metronidazole, demonstrating a specificity of 100%. Therefore, FR, AMX, and TET are recommended as suitable empirical treatment options for H. pylori infections in this region. Genotypic analysis provides a reliable method for predicting resistance to CLA and LEV. WGS proves to be a valuable tool for identifying novel resistance loci in H. pylori and contributes to the phylogenetic classification of strains.

Identification of Three POMCa Genotypes in Largemouth Bass (Micropterus salmoides) and Their Differential Physiological Responses to Feed Domestication

Diverse feeding habits in teleosts involve a wide range of appetite-regulating factors. As an appetite-suppressing gene, the polymorphisms of POMCa in largemouth bass (Micropterus salmoides) were validated via sequencing and high-resolution melting (HRM). The frequency distribution of different POMCa genotypes were analyzed in two populations, and physiological responses of different POMCa genotypes to feed domestication were investigated. The indel of an 18 bp AU-rich element (ARE) in the 3′ UTR and four interlocked SNP loci in the ORF of 1828 bp of POMCa cDNA sequence were identified in largemouth bass and constituted three genotypes of POMC-A I, II, and III, respectively. POMC-A I and Allele I had increased frequencies in the selection population than in the non-selection population (p &lt; 0.01), 63.55% vs. 43.33% and 0.7850 vs. 0.6778, respectively. POMC-A I possessed the lowest value of POMCa mRNA during fasting (p &lt; 0.05) and exhibited growth and physiological advantages under food deprivation and refeeding according to the levels of body mass and four physiological indicators, i.e., cortisol (Cor), growth hormone (GH), insulin-like growth factor-1 (IGF-1), and glucose (Glu). The identification of three POMCa genotypes, alongside their varying physiological responses during feed domestication, suggests a selective advantage that could be leveraged in molecular marker-assisted breeding of largemouth bass that are adapted to feeding on formula diet.

Treatment of Hepatitis C Virus Infections Among Patients of Ukrainian Origin During the Influx of War Refugees to Poland

Background: The wave of wartime migration from Ukraine has raised a number of concerns about infectious diseases, the prevalence of which is higher in Ukraine than in host countries, with hepatitis C virus (HCV) infection being one of them. Our analysis aimed to assess the percentage of HCV-infected Ukrainian refugees under care in Polish centers providing antiviral diagnosis and therapy, to evaluate their characteristics and the effectiveness of treatment with direct-acting antiviral drugs (DAAs). Methods: The analysis included patients of Polish and Ukrainian nationality treated for HCV infection between 2022 and 2024 in Polish hepatology centers. Data were collected retrospectively and completed online. Results: In the population of 3911 patients with chronic hepatitis C treated with DAAs in 16 Polish centers in 2022–2024, there were 429 war refugees from Ukraine, accounting for 11% of the total treated. The Ukrainian population was significantly younger (45.7 vs. 51 years, p &lt; 0.001) and had a higher percentage of women (50.3% vs. 45.3%, p = 0.048) compared to Polish patients. Patients of Ukrainian origin had less advanced liver disease and were significantly less likely to have comorbidities and the need for comedications. Coinfection with human immunodeficiency virus was significantly more common in Ukrainians than in Polish patients, 16.1% vs. 5.9% (p &lt; 0.001). The distribution of HCV genotypes (GTs) also differed; although GT1b predominated in both populations, its frequency was significantly higher in the Polish population (62.3% vs. 44.5%, p &lt; 0.001), while the second most common GT3 was significantly more common in Ukrainian patients (30.5% vs. 16.2%, p &lt; 0.001). Conclusions: Documented differences in patient characteristics did not affect the effectiveness of antiviral therapy, which exceeded 97% in both populations, but there was a higher rate of those lost to follow-up among Ukrainian patients.

Multi-clustering study on the association between human leukocyte antigen-DP-DQ and hepatitis B virus-related hepatocellular carcinoma and cirrhosis in Viet Nam

BACKGROUND Human leukocyte antigen (HLA) class II molecules are cell surface receptor proteins found on antigen-presenting cells. Polymorphisms and mutations in the HLA gene can affect the immune system and the progression of hepatitis B. AIM To study the relation between rs2856718 of HLA-DQ , rs3077, and rs9277535 of HLA-DP , hepatitis B virus (HBV)-related cirrhosis, and hepatocellular carcinoma (HCC). METHODS In this case-control study, the genotypes of these single nucleotide polymorphisms (SNPs) were screened in 315 healthy controls, 471 chronic hepatitis B patients, 250 patients with HBV-related liver cirrhosis, and 251 patients with HCC using TaqMan real-time PCR. We conducted Hardy-Weinberg equilibrium and linkage disequilibrium tests on the genotype distributions of rs2856718, rs3077, and rs9277535 before hierarchical clustering analysis to build the complex interaction between the markers in each patient group. RESULTS The physical distance separating these SNPs was 29816 kB with the disequilibrium (D’) values ranging from 0.07 to 0.34. The close linkage between rs3077 and rs9277535 was attributed to a distance of 21 kB. The D’ value decreased from moderate in the healthy control group (D’ = 0.50, P &lt; 0.05) to weak in the hepatic disease group (D’ &lt; 0.3, P &lt; 0.05). In a combination of the three variants rs2856718, rs3077, and rs9277535, the A allele decreased hepatic disease risk [A-A-A haplotype, risk ratio (RR) = 0.44 (0.14; 1.37), P &lt; 0.05]. The G allele had the opposite effect [G-A/G-G haplotype, RR = 1.12 (1.02; 1.23), P &lt; 0.05]. In liver cancer cases, the A-A-A/G haplotype increased the risk of HCC by 1.58 (P &lt; 0.05). CONCLUSION Rs9277535 affects liver fibrosis progression due to HBV infection, while rs3077 is associated with a risk of HBV-related HCC. The link between rs2856718, rs3077, and rs9277535 and disease risk was determined using a multi-clustering analysis.

Mapping the HPV Landscape in South African Women: A Systematic Review and Meta-Analysis of Viral Genotypes, Microbiota, and Immune Signals

This systematic review and meta-analysis evaluate human papillomavirus (HPV) prevalence, genotype distribution, and associations with cervicovaginal microbiota and cytokine profiles among South African women, where cervical cancer ranks as the second most common cancer. PubMed, SCOPUS, and Web of Science were searched for studies on HPV infection up to 21 September 2024. The pooled prevalence was estimated using a random-effects model, with subgroup analyses by province, sample type, and HIV status. Publication bias was evaluated using funnel plots and Egger’s test. Of the 19,765 studies screened, 120 met the inclusion criteria, comprising 83,266 participants. Results indicate a high HPV burden, with a pooled prevalence of 58% (95% CI: 52–64%), varying regionally from 53% (95% CI: 41–65%) to 64% (95% CI: 55–73%), with some regions under-researched. Cervical samples had the highest HPV prevalence (60% (95% CI: 54–66%)), while non-genital samples were less studied. High-risk (HR) HPV types, notably HPV 16 (7.5%), HPV 35 (4.1%), and HPV 18 (3.9%), were prominent, with HPV 35 emphasizing the need for expanded vaccine coverage. HIV-positive women had a higher pooled HPV prevalence (63% (95% CI: 55–71%)). Funnel plot analysis and Egger’s test suggested a potential publication bias (p = 0.047). HPV-positive women exhibited lower Lactobacillus levels and an increase in Bacterial Vaginosis (BV)-associated species like Gardnerella, potentially supporting HPV persistence. Cytokine analysis showed elevated MIP-1α and MIP-1β in HPV infections, though cytokine profiles may depend on HPV genotypes. These findings underscore the need for research on HPV–microbiome-immune interactions and call for comprehensive HPV-prevention strategies, including vaccines targeting regional HPV types and tailored interventions for HIV-positive populations.

Association of genetic variations of interleukin-6 polymorphism (rs1800795) with susceptibility to Hashimoto’s thyroiditis in West Algerian population

Aim: Hashimoto’s thyroiditis is a polygenic auto-immune disease with a complex etiopathogenesis. It is more common in females. An imbalance between pro-inflammatory and anti-inflammatory cytokines may play an important role in the disease pathogenesis. Numerous studies have been conducted to find an association between genetic polymorphisms and the development of Hashimoto’s thyroiditis. In this context, we proposed to study the impact of the interleukin-6 (IL-6) gene polymorphism (rs1800795) on the genetic susceptibility to Hashimoto’s thyroiditis. Methods: Polymorphism in IL-6 gene (rs1800795) was assessed in a case-control study involving a population of Western Algeria with 81 Hashimoto’s thyroiditis patients and 211 unrelated healthy subjects, matched in age and sex. The DNA was extracted by a magnetic bead-based technique. The genetic study was performed by molecular biology: real-time PCR using TaqMan single nucleotide polymorphism (SNP) genotyping assay with Applied Biosystems 7500 device. Results: Results showed that the GG and GC genotypic distribution is similar between patient and control groups with a higher frequency of the GG genotype (80.25% in patients and 78.67% in controls vs. 19.75% of patients and 20.38% of controls with the GC genotype). The CC genotype is absent in patients and present in only 02/211 healthy subjects. The frequency of the polymorphic G allele was similar in the two groups, with 90.1% and 88.8% in patients and controls respectively (P &gt; 0.05). Conclusions: This study reports no significant difference in IL-6 (-174 G/C) gene polymorphism at the allelic or the genotypic level between Hashimoto’s patients and the control group (P &gt; 0.05). No association between the SNP IL-6 rs1800795 and susceptibility to Hashimoto’s thyroiditis in Western Algerian population.

Investigating &lt;i&gt;HOTAIR&lt;/i&gt; Polymorphisms as a Potential Diagnostic Marker for Type 2 Diabetes in an Iraqi Population

Background: Diabetes mellitus type 2 (T2DM) is a chronic condition characterized by insulin resistance, affecting approximately 530 million adults globally, with a prevalence of 10.5% among individuals aged 20 to 79. In Iraq, the prevalence is significantly higher at 13.9%. Objectives: This study examines the relationship between long noncoding RNA HOX transcript antisense RNA (HOTAIR) polymorphisms and T2DM risk, investigating HOTAIR's potential as a diagnostic marker. Methods: Blood samples were collected from 28 T2DM patients and 20 healthy controls, with physiological parameters measured. HOTAIR plasma levels were assessed using quantitative real-time (qRT)-PCR, and single-nucleotide polymorphisms rs12826786 and rs1899663 were analyzed through amplification refractory mutation system (ARMS)-PCR. Results: HOTAIR expression was found to be 6.6 times higher in T2DM patients compared to controls, suggesting its involvement in T2DM pathophysiology. Genotype distributions adhered to Hardy-Weinberg equilibrium, with the rs12826786 C allele appearing protective against T2DM, while rs1899663 showed no significant association. Statistical analysis identified a significant relationship between the rs12826786 genotype and body mass index (BMI), though other diabetes-related metrics did not show significant results. Conclusions: The findings suggest that elevated HOTAIR expression may play a role in T2DM, highlighting the need for further investigation into these associations and their potential implications for diagnosis and risk assessment.

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.

Advances in human norovirus research: Vaccines, genotype distribution and antiviral strategies.

Norovirus, belonging to the Caliciviridae family, is a non-enveloped, positive-sense single-stranded RNA virus. It is widely acknowledged as a significant etiological agent responsible for non-bacterial acute gastroenteritis and considered a major cause thereof. Norovirus is primarily tranmitted via fecal-oral route, but can also be transmitted via airborne routes. Clinical manifestations often include symptoms associated with acute gastroenteritis, like nausea, vomiting, watery diarrhea, stomach cramps, and others. Due to the specific pathogenic mechanism of the virus, and genomic diversity, there are currently no preventive vaccines or effective antiviral drugs available for treating norovirus-induced acute gastroenteritis infections. The management of such infections mainly relies on oral rehydration therapy while prevention necessitates adherence to personal hygiene measures. The present paper discusses the nature, transmission route, clinical manifestations, immune response mechanism, and vaccine research of Norovirus. The objective of this review manuscript is to systematically gather, analyze, and summarize recent research and investigations on norovirus in order to enhance our understanding of its characteristics and pathogenesis. This not only facilitates subsequent researchers in acquiring a more expedited and comprehensive grasp of the existing knowledge about norovirus but also provides clearer directions and goals for future studies.

Association between renin-angiotensin system gene polymorphism and cardio-ankle vascular index in patients with COVID-19

Aim. To assess the relationship between arterial stiffness and renin-angiotensin system (RAS) gene polymorphism in patients with COronaVIrus Disease 2019 (COVID-19).Material and methods: 100 patients (mean age of 58.1±11.98 years; 51% women, 49% men) were included in the cross-ectional study. This study included adult patients with laboratory-confirmed diagnosis of COVID-19 admitted to the University Hospital. All patients were evaluated for arterial stiffness using cardio-ankle vascular index (CAVI) by sphygmomanometry. Also alleles and genotypes of several polymorphic markers were identified by real-time polymerase chain reaction in human DNA preparations: rs4762 of angiotensinogen (AGT) gene, rs1799752 of angiotensin-converting enzyme type 1 gene (ACE1), rs5186 of angiotensin II type 1 receptor gene (ATP1), and rs1403543 of angiotensin II type 2 receptor gene (ATP2). The distributions of alleles and genotypes in groups with normal and elevated arterial stiffness (CAVI ≥9.5) were compared.Results. Elevated arterial stiffness (CAVI ≥9.5) was found in 29%. A significantly higher frequency of ATP1 rs5186 genotypes including the A allele, i.e., A/A+A/C versus C/C, was found in subjects with normal CAVI: 95.0% and 5.0% compared with 87.5% and 12.5% in those with CAVI ≥9.5 (χ2=3.907, p=0.049). A significantly higher frequency of genotypes involving the D allele (DD and ID) was detected in patients with increased stiffness: 95.0% compared to 81.3% in the group with normal stiffness (χ2=9.280, p&lt;0.003), and a significantly higher frequency of genotypes including the A-allele: 68.7% and 31.3% compared to 55.0% and 45.0% in individuals with normal arterial stiffness (χ2=4.160, p=0.042). As a result, in patients hospitalized with COVID-19, the presence of increased arterial stiffness with a CAVI level ≥9.5 was associated with a higher frequency of adverse D/D genotype of ACE1 rs1799752, C/C genotype of ATP1 rs5186, A/A genotype and A allele of ATP2 rs1403543.Conclusion. Thus, the presence of certain unfavorable genotypes of ACE1, ATP1 and ATP2 may contribute to the formation of higher arterial stiffness in COVID-19 and be considered as a non-modifiable risk factor for increased vascular wall stiffness along with such a significant factor as age.

Polymorphisms rs7041 (c.1296T&amp;gt;G) and rs4588 (c.1307C&amp;gt;A) and Distribution of Gc Variants in a Population of Hemodialysis Patients in Abidjan

Background: Vitamin D deficiency is associated with chronic kidney disease (CKD). Renal failure patients are routinely supplemented with vitamin D to compensate for this deficiency. The response to vitamin D supplementation can vary according to variants in the Gc (Vitamin D-binding protein) gene. The combination of two single-nucleotide polymorphisms (SNPs), rs7041 (c.1296T&amp;gt;G) and rs4588 (c.1307C&amp;gt;A), in the Gc gene forms three variants, namely Gc1f (c.1296 T, c.1307C), Gc1s (c.1296G, c.1307C), Gc2 (c.1296T, c.1307A), which result in six vitamin D-binding protein (DBP) phenotypes. Significant variations in variant frequency are reported in different populations. Objectif: The aim of our study was to determine the distribution of Gc genotypes and variants in a population of haemodialysis patients. Methods and Results: Genomic DNA from forty-eight blacks Africans adults with CKD were extracted from whole blood samples. The DNA region spanning the two SNPs of interest was amplified by PCR. The amplified DNA was subjected to the action of restriction enzymes, StyI and HaeIII in two different reactions. Genotyping was performed by analysis of the length of restriction fragments by 2.5% agarose gel electrophoresis. The mean age of the study population was 42±12 years, with a sex ratio of 1.6. The C/C genotype of rs4588 (c.1307C&amp;gt;A) was the most frequent, followed by the T/T genotype (90.6%) of rs7041 (c.1296T&amp;gt;G). Three DBP phenotypes, Gc1f-1f (c.1296T, c.1307C/p.432Asp, p.436Thr): 89.6 %, Gc1s-1s (c.1296 G, c.1307C/p.432Glu, p.436Thr): 8.3 %, and Gc1f/Gc1s: 2,1% were identified. Conclusion: Finally, the Gc1f variant was the most frequent. Our results suggest the need for vitamin D testing to establish the correlation between the observed Gc genotypes/variants and vitamin D status in the study population.

Analysis of serotype distribution and characteristics of nonhemolytic and nonpigmented strains among group B Streptococcus isolates in a southern Taiwan local hospital.

Group B streptococci (GBS) are Gram-positive bacteria that are a leading cause of neonatal infections. Most invasive isolates are β-hemolytic, and hemolytic activity is critical for GBS virulence. Although nonhemolytic GBS strains are occasionally isolated, they are often thought to be attenuated in virulence. Recent studies have observed that many nonhemolytic and nonpigmented (NH/NP) strains originated from invasive infections, including bacteremia and meningitis, in neonates or adults. The mutations causing the NH/NP phenotype are predominantly localized in the cyl operon and abx1 gene. Previous studies on group B streptococci in Taiwan have focused on the serotype and genotype distribution. In this study, we investigated the serotype distribution of the NH/NP strains and detected the mutations of abx1. One hundred clinical GBS strains from non-invasive (vaginal and rectal swabs, 69) and invasive infections (blood, urine and abscess, 31), including 10 NH/NP isolates, were collected during 2019-2021 at Fooyin University Hospital. To confirm GBS isolates, we have developed a multiplex PCR method that detects GBS isolates, virulent strain ST-17 and virulent factor Srr1 simultaneously. Molecular serotyping was performed by multiplex PCR assay using serotype specific primer sets. The genomic region containing abx1 was amplified from DNA extracts by PCR and the amplicons were directly sequenced and analyzed on an ABI prism 3730 DNA analyzer. The capsular serotypes III and VI were the most abundant in both the non-invasive specimens and invasive specimens. The ST-17 isolates were more frequently associated with invasive infections (16.1%, 5/31) than non-invasive diseases or colonization (7.2%, 5/69). The association of NH/NP strains between noninvasive diseases or colonization (10.1, 7/69) and invasive infection (9.7%, 3/31) is nearly compatible. The NH/NP strains were isolated from various serotypes (Ia, III, V and VI) and five NH/NP isolates were serotype III. The virulence factor Srr1was detected in most of the NH/NP isolates (8/10) and one NH/NP isolate was ST-17. Abx1 mutations, including transitions, transversions and deletions, were observed in some NH/NP isolates, but some mutations also observed in hemolytic isolates. Five NH/NP isolates were erythromycin and clindamycin resistant. These results indicate NH/NP GBS strains may have the potential for invasive infections and may show higher tendency to get mutated.

On Non-Random Mating, Adaptive Evolution, and Information Theory

Population genetics describes evolutionary processes, focusing on the variation within and between species and the forces shaping this diversity. Evolution reflects information accumulated in genomes, enhancing organisms’ adaptation to their environment. In this paper, I propose a model that begins with the distribution of mating based on mutual fitness and progresses to viable adult genotype distribution. At each stage, the changes result in different measures of information. The evolutionary dynamics at each stage of the model correspond to certain aspects of interest, such as the type of mating, the distribution of genotypes in regard to mating, and the distribution of genotypes and haplotypes in the next generation. Changes to these distributions are caused by variations in fitness and result in Jeffrey’s divergence values other than zero. As an example, a model of hybrid sterility is developed of a biallelic locus, comparing the information indices associated with each stage of the evolutionary process. In conclusion, the informational perspective seems to facilitate the connection between cause and effect and allows the development of statistical tests to perform hypothesis testing against zero-information null models (random mating, no selection, etc.). The informational perspective could contribute to clarify, deepen, and expand the mathematical foundations of evolutionary theory.

Prevalence, genotype diversity, and zoonotic potential of bovine rotavirus A in Amhara National Regional State, Ethiopia: A multicenter cross-sectional study

Rotavirus A (RVA) is one of the major viral causes of acute gastroenteritis in calves globally. Bovine RVA can represent a public health concern as it is capable of zoonotic transmission. We assessed the burden, genotype distribution, and zoonotic potential of RVA among calves in Amhara National Regional State, Ethiopia.A multi-center cross-sectional study was conducted involving a total of 266 calves. Clinical data and fecal samples were collected by trained veterinarians. Total RNA was extracted using QIAamp viral RNA mini kit and RVA was detected by One-step qRT-PCR. Amplification and Sanger sequencing of VP7 and VP4 genes were performed to determine G-types and P-types of the circulating RVA, respectively.The prevalence of RVA among calves was 41/266 (15.4%, 95% CI=11.3%-19.5%). The circulating G-types were G6, G8, and G10, while the circulating P-types were P[1], P[4], P[8], P[11], P[13] and P[14]. G10P[11] (37.5%) followed by G6P[14] (18.8%), and G6P[1] (12.5%) were the dominant G/P combinations circulating among calves in the study area. The circulating bovine RVA strains including human-like bovine (GxP[4] and GxP[8]) and porcine-like bovine (G8P[13]) P-genotypes identified in calves were closely related to RVA strains globally reported from bovine, human, caprine, porcine, and other hosts.Our data reveal that the prevalence of RVA in calves is significant with diverse genotypes circulating in the study area with a potential for zoonosis and/or reverse zoonosis. Hence, continuous surveillance of the circulating RVA genotypes is crucial to curb the RVA-associated morbidity and mortality in cattle and human populations.

Hepatitis B Virus Prevalence and Genotype Distribution in Human Immunodeficiency Virus Infected Patients from Brazzaville, Republic of the Congo

Hepatitis B virus infection is a major global health problem, particularly in HIV-infected patients and increases the risk of liver damage. The purpose of this study was to assess the HBV prevalence and genotypes among HIV-infected patients in Brazzaville, Republic of the Congo. This cross-sectional study was conducted among HIV-positive patients attending an outpatient treatment center for HIV/AIDS in Brazzaville, from June 2018 to February 2020. Blood samples were screened for HBsAg by ELISA and HBV genotypes were determined by phylogenetic inference. Data analysis was done using SPSS V.21.0 and P value less than 0.05 was considered as statistically significant. A total of 275 patients HIV-infected were included. The prevalence of HIV-HBV coinfection was 6.9% (95%CI:4.21-10.58). The majority of the co-infected with HBV were mainly male patients (7.7%). HIV-positive individuals aged 28-38 (8.4%) were mostly affected. None of the risk’s factors tested was significantly associated with HBV in HIV-infected patients. Phylogenetic analysis revealed that 9/15 (60%) belonged to genotype E while 6/15 (40%) belonged to genotype A including subgenotypes A3 and A5. In conclusion, these data underline the importance of HBV genotype identification as an integrated measure of HIV routine care to improve the treatment of HIV/HBV co-infected patients.

Clinical and neurological specifics of the vertebrogenic lumbosacral radiculopathy course in the patients with RS1143627 polymorphism of the &lt;i&gt;IL-1β&lt;/i&gt; gene

Rationale: Vertebrogenic lumbosacral radiculopathy (VLSRP) is a consequence of exposure to physical exertion, back injuries, and smoking. Genetic polymorphism of the cytokine IL-1β contributes to the progression of VLSRP due to its increased production in certain genetic variants. Aim: To establish an association between the rs1143627 polymorphism of the IL-1β gene with VLSRP, as well as with clinical and neurological specifics of VLSRP during its treatment. Methods: The study involved 121 patients with VLSRP aged 22 to 66 years (median, 41 [35; 49] years; men, 110 (90.91%)), treated in the in-patient Department of Neurology from January 2023 to February 2024, and 100 age- and gender compatible healthy subjects. Based on the results of clinical and neurological assessments, the indices of the Digital Rating Scale, Oswestry and Roland-Morris questionnaires were determined. The rs1143627 polymorphism was identified by real-time polymerase chain reaction (IQ5 amplifier (Bio-Rad, USA)) with the SNP-express (IL-1β-31C/T) test system (Litech, Russia). Results: VLSRP was associated with the distribution of alleles (χ2 = 3.93; p = 0.049) and genotypes according to the dominant model (χ2 = 4.7; p = 0.032) of the rs1143627 polymorphism of the IL-1β gene. The minor T allele increased the odds ratio for VLSRP (OR 1.51; 95% CI 1.004–2.26) in the dominant model; the sum of CC + CT genotypes was also associated with increased VPSRP odds ratio (OR 1.814; 95% CI 1.056–3.115). The DRS scores under treatment showed the significant predominance of pain in the T (CT + TT) allele carriers (p 0.001). As assessed by the Oswestry and Roland-Morris questionnaires, the minor T allele in CT + TT genotypes demonstrated prevailing everyday life activities and less effective results after a treatment course (p 0.001). In the study subjects of ≤ 41 years of age, the multiplicative model showed a higher risk of VLSRP with the minor T allele by 1.8-fold (OR 1.80; 95% CI 1.02–3.19). In the dominant model, the sum of genotypes with the minor T allele (CT + TT) was associated with a 2.23-fold higher risk of VLSRP (OR 2.23; 95% CI 1.05–4.72). Conclusions: We were able to find the association between the rs1143627 polymorphism of the IL-1β gene with VLSRP, with a higher risk of the disease in the patients of ≤ 41 years of age, higher DRS, Oswestry, and Roland-Morris questionnaire scores, which was related to the presence of a minor T allele and CT + TT genotypes.