Dominant Model Research Articles

ρ meson magnetic dipole moment from BaBar e+e−→π+π−π0π0 cross section measurement

We obtain the value of the magnetic dipole moment of the ρ meson, using data from the collaboration for the e+e−→π+π−2π0 process. The considered center of mass energy range is from 0.9 to 1.8 GeV. We describe the γ*→4π vertex using a vector meson dominance model, including the intermediate resonant contributions relevant at these energies. We find μρ=2.7±0.3 in e/2mρ units. We improve on the previous extracted value, where preliminary data from the same collaboration was used, by considering definite data, better grounded values of the parameters involved, and an explicit gauge invariant description of the process. Published by the American Physical Society 2024

Electric conductivity of hot and dense nuclear matter

Transport coefficients play an important role in characterising hot and dense nuclear matter, such as that created in ultra-relativistic heavy-ion collisions (URHIC). In the present work we calculate the electric conductivity of hot and dense hadronic matter by extracting it from the electromagnetic spectral function, through its zero energy limit at vanishing 3-momentum. We utilise the vector dominance model (VDM), in which the photon couples to hadronic currents predominantly through the ρ meson. Therefore, we use hadronic many-body theory to calculate the ρ-meson's self-energy in hot and dense hadronic matter, by dressing its pion cloud with π-ρ, π-σ, π-K, N-hole, and Δ-hole loops. We then introduce vertex corrections to maintain gauge invariance. Finally, we analyze the low-energy transport peak as a function of temperature and baryon chemical potential, and extract the conductivity along a proposed phase transition line.

Obesity and Environmental Risk Factors Significantly Modify the Association between Ischemic Stroke and the Hero Chaperone C19orf53.

The unique chaperone-like properties of C19orf53, discovered in 2020 as a "hero" protein, make it an intriguing subject for research in relation to ischemic stroke (IS). Our pilot study aimed to investigate whether C19orf53 SNPs are associated with IS. DNA samples from 2138 Russian subjects (947 IS and 1308 controls) were genotyped for 7 C19orf53 SNPs using probe-based PCR. Dominant (D), recessive (R), and log-additive (A) regression models in relation to the effect alleles (EA) were used to interpret associations. An increased risk of IS was associated with rs10104 (EA G; Pbonf(R) = 0.0009; Pbonf(A) = 0.0004), rs11666524 (EA A; Pbonf(R) = 0.003; Pbonf(A) = 0.02), rs346158 (EA C; Pbonf(R) = 0.006; Pbonf(A) = 0.045), and rs2277947 (EA A; Pbonf(R) = 0.002; Pbonf(A) = 0.01) in patients with obesity; with rs11666524 (EA A; Pbonf(R) = 0.02), rs346157 (EA G; Pbonf(R) = 0.036), rs346158 (EA C; Pbonf(R) = 0.005), and rs2277947 (EA A; Pbonf(R) = 0.02) in patients with low fruit and vegetable intake; and with rs10104 (EA G; Pbonf(R) = 0.03) and rs11666524 (EA A; Pbonf(R) = 0.048) in patients with low physical activity. In conclusion, our pilot study provides comprehensive genetic and bioinformatic evidence of the involvement of C19orf53 in IS risk.

Spontaneous acts of everyday co-creation: somaesthetic study of affective placemaking in the case of Durga Puja, Kolkata

ABSTRACT Everyday participatory acts can lead to the co-creation of urban spaces even without the specific intention of dominant stakeholders. Such spontaneous co-creation is often triggered by macro-level urban events with significant affective value in placemaking. We explore the Durga Puja festival in Kolkata as a prominent example of this phenomenon. Utilising Richard Shusterman’s somaesthetic framework, we analyse how space is dynamically co-created by diverse ‘sentient, purposive bodies’, or somas. Our fieldwork and interviews map affective placemaking, examining somatic associations within dynamic spatial configurations. This is illustrated through examples of spontaneous community involvements that result in the co-creation of new types of places, without adhering to a pre-planned, predictable course. Two types of co-creation emerge: the first, more dominant, where everyday elements recede into the background through intrusive design motifs, and the second, where the everyday is the sole inspiration behind affective placemaking. The dominant model of co-creation highlights overarching themes, while the second type, explored through detailed case studies, offers a nuanced understanding of a place’s historicity, geographical context, and cultural significance. Strategies for blending into surroundings, rather than standing out, have significant implications for sustainable urban design that values affective placemaking.

Neural EGFL like 1 as a novel gene for Trabecular Bone Score in older adults: The Bushehr Elderly Health (BEH) program.

Neural EGFL like 1 (NELL-1), is a secreted glycoprotein and stimulates osteogenic cell differentiation and bone mineralization. This study aimed to explore the relationship between NELL-1 and Trabecular Bone Score (TBS) as a novel tool for the evaluation of osteoporosis in an elderly population-based cohort study in Iran. A single-locus analysis was performed on TBS using data from 2,071 participants in the Bushehr Elderly Health (BEH) Program. The study investigated 376 independent single nucleotide polymorphisms (SNPs) within the NELL-1 on chromosome 11p15.1. The association between SNPs and the mean TBS L1 to L4 was analyzed through an additive model. Significant variants in the additive model (PFDR<0.05) were further examined within dominant, recessive, over-dominant, and co-dominant models. Multiple linear regression was employed to assess the relationship between the genetic risk score (GRS) derived from significant SNPs and TBS. Three SNPs within the NELL-1 showed a statistically significant association with TBS after adjusting for age and sex. The associations for rs1901945 (β = 0.013, PFDR = 0.0007), rs1584851 (β = -0.011, PFDR = 0.0003), and rs58028601 (β = 0.011, PFDR = 0.0003) were significant in the additive model. Additionally, significant results were observed for rs1901945 and rs58028601 in the dominant model (P<0.05). The GRS showed a statistically significant relationship with TBS, considering adjustments for age, sex, Body Mass Index, type 2 diabetes, and smoking (β = 0.077, P = 1.7×10-5). This study highlights the association of NELL-1 with TBS, underscoring its potential as a candidate for further research and personalized medicine concerning the impact of this gene on bone quality.

Prevalence and future estimates of frailty and pre-frailty in a population-based sample of people 70 years and older in Norway: the HUNT study

BackgroundFrailty in older people is a rising global health concern; therefore, monitoring prevalence estimates and presenting projections of future frailty are important for healthcare planning.AimTo present current prevalence estimates of frailty and pre-frailty and future projections according to both dominant frailty models in a large population-based observational study including adults ≥ 70 years in Norway.MethodsIn this population-based observational study, we included 9956 participants from the HUNT4 70 + study, conducting assessments at field stations, homes, and nursing homes. Frailty was assessed using Fried criteria and a 35-item frailty index (HUNT4-FI). Inverse probability weighting and calibration using post-stratification weights and aggregated register data for Norway according to age, sex, and education ensured representativeness, and population projection models were used to estimate future prevalence.ResultsAccording to Fried criteria, the current prevalence rates of frailty and pre-frailty in people ≥ 70 years were 10.6% and 41.9%, respectively, and for HUNT4-FI 35.8% and 33.2%, respectively. Compared to previous European estimates we identified higher overall frailty prevalence, but lower prevalence in younger age groups. Projections suggest the number of Norwegian older adults living with frailty will close to double by 2040.ConclusionFrailty in older people in Norway is more prevalent than previous European estimates, emphasising the imperative for effective interventions aimed to delay and postpone frailty and ensure healthcare system sustainability in an ageing population. Future planning should consider the great heterogeneity in health and functioning within the 70 + population.

The Impact of ARMS2 (rs10490924), VEGFA (rs3024997), TNFRSF1B (rs1061622), TNFRSF1A (rs4149576), and IL1B1 (rs1143623) Polymorphisms and Serum Levels on Age-Related Macular Degeneration Development and Therapeutic Responses.

Age-related macular degeneration (AMD) is a major global health problem as it is the leading cause of irreversible loss of central vision in the aging population. Anti-vascular endothelial growth factor (anti-VEGF) therapies are effective but do not respond optimally in all patients. This study investigates the genetic factors associated with susceptibility to AMD and response to treatment, focusing on key polymorphisms in the ARMS2 (rs10490924), IL1B1 (rs1143623), TNFRSF1B (rs1061622), TNFRSF1A (rs4149576), VEGFA (rs3024997), ARMS2, IL1B1, TNFRSF1B, TNFRSF1A, and VEGFA serum levels in AMD development and treatment efficacy. This study examined the associations of specific genetic polymorphisms and serum protein levels with exudative and early AMD and the response to anti-VEGF treatment. The AA genotype of VEGFA (rs3024997) was significantly associated with a 20-fold reduction in the odds of exudative AMD compared to the GG + GA genotypes. Conversely, the TT genotype of ARMS2 (rs10490924) was linked to a 4.2-fold increase in the odds of exudative AMD compared to GG + GT genotypes. In females, each T allele of ARMS2 increased the odds by 2.3-fold, while in males, the TT genotype was associated with a 5-fold increase. Lower serum IL1B levels were observed in the exudative AMD group compared to the controls. Early AMD patients had higher serum TNFRSF1B levels than controls, particularly those with the GG genotype of TNFRSF1B rs1061622. Exudative AMD patients with the CC genotype of TNFRSF1A rs4149576 had lower serum TNFRSF1A levels compared to the controls. Visual acuity (VA) analysis showed that non-responders had better baseline VA than responders but experienced decreased VA after treatment, whereas responders showed improvement. Central retinal thickness (CRT) reduced significantly in responders after treatment and was lower in responders compared to non-responders after treatment. The T allele of TNFRSF1B rs1061622 was associated with a better response to anti-VEGF treatment under both dominant and additive genetic models. These findings highlight significant genetic and biochemical markers associated with AMD and treatment response. This study found that the VEGFA rs3024997 AA genotype reduces the odds of exudative AMD, while the ARMS2 rs10490924 TT genotype increases it. Lower serum IL1B levels and variations in TNFRSF1B and TNFRSF1A levels were linked to AMD. The TNFRSF1B rs1061622 T allele was associated with better anti-VEGF treatment response. These markers could potentially guide risk assessment and personalized treatment for AMD.

Photoproduction of the X(3872) beyond vector meson dominance: the open-charm coupled-channel mechanism

Hidden-charm exotic hadrons will be searched for and investigated at future electron–ion colliders. For instance, the X(3872) can be produced through the exclusive process γ p → X(3872)p. The vector meson dominance model has been commonly employed in estimating the cross sections of such processes. However, the coupled-channel production mechanism through open-charm meson-baryon intermediate states may play a crucial role. To assess the significance of such contributions, we estimate the cross section of the γ p → X(3872)p reaction assuming the coupled-channel mechanism. For energies near the threshold, the total cross section is predicted to be of tens of nanobarns for γ p → X(3872)p, which can be measured at future experimental facilities. Furthermore, the open-charm coupled-channel mechanism leads to a distinct line shape of the total cross section that can be utilized to reveal the production dynamics.

Association of Gene Polymorphisms with Polycystic Ovary Syndrome: A Meta-analysis

Abstract Objectives: Polycystic ovary syndrome (PCOS) is a prevalent endocrine-metabolic disorder affecting reproductive-aged women. Genetic factors play a significant role in its development. This meta-analysis assesses the associations between specific gene polymorphisms (Vitamin D receptor [VDR] and adiponectin [ADIPOQ]) and PCOS susceptibility. Materials and Methods: We conducted a systematic review following the Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines, Collecting data from published articles between 2013 to 2013. Eligible studies were selected based on inclusion and exclusion criteria, with quality assessment performed using the Newcastle–Ottawa scale. Data were extracted, and statistical analyses included odds ratios with 95% confidence intervals for gene polymorphisms. Heterogeneity was evaluated using I 2 tests, and publication bias was assessed using Begg’s and Egger’s tests. Results: A total of 33 articles involving 5677 cases and 5257 controls were included in the analysis. Significant associations were observed for VDR TaqI rs731236 polymorphism in the dominant and recessive models and VDR BsmI rs1544410 polymorphism in the dominant and recessive models. For ADIPOQ T45G rs2241766, a significant association was found in the heterozygous model. The results did not reveal any significant associations for ADIPOQ G276T rs1501299. Conclusion: This meta-analysis suggests associations between specific gene polymorphisms (VDR and ADIPOQ) and PCOS susceptibility. Further research is needed to validate these findings and unravel the complex genetic factors contributing to PCOS, potentially leading to improved diagnostic and therapeutic strategies.

The rs3918188 and rs1799983 loci of eNOS gene are associated with susceptibility in patients with systemic lupus erythematosus in Northeast China

To investigate the association between single nucleotide polymorphism (SNP) at the rs3918188, rs1799983 and rs1007311 loci of the endothelial nitric oxide synthase (eNOS) gene and genetic susceptibility to systemic lupus erythematosus (SLE) in northeastern China. The base distribution of eNOS gene rs3918188, rs1799983 and rs1007311 in 1712 human peripheral blood samples from Northeast China was detected by SNaPshot sequencing technology. The correlation between genotype, allele and gene model of these loci of the eNOS gene and the genetic susceptibility to SLE was investigated by logistic regression analysis. The results of the differences in the frequency distribution of their gene models were visualised using R 4.3.2 software. Finally, HaploView 4.2 software was used to analyse the relationship between the haplotypes of the three loci mentioned above and the genetic susceptibility to SLE. A multifactor dimensionality reduction (MDR) analysis was used to determine the best SNP-SNP interaction model. The CC genotype and C allele at the rs3918188 locus may be a risk factor for SLE (CC vs AA: OR = 1.827, P < 0.05; C vs A: OR = 1.558, P < 0.001), and this locus increased the risk of SLE in the dominant model and the recessive model (AC + CC vs AA: OR = 1.542, P < 0.05; CC vs AA + AC: OR = 1.707, P < 0.001), while the risk of SLE was reduced in the overdominant model (AC vs AA + CC: OR = 0.628, P < 0.001). The GT genotype and T allele at locus rs1799983 may be a protective factor for SLE (GT vs GG: OR = 0.328, P < 0.001; T vs G: OR = 0.438, P < 0.001) and this locus reduced the risk of SLE in the overdominant model (GT vs GG + TT: OR = 0.385, P < 0.001). There is a strong linkage disequilibrium between the rs1007311 and rs1799983 loci of the eNOS gene. Among them, the formed haplotype AG increased the risk of SLE compared to GG. AT and GT decreased the risk of SLE compared to GG. In this study, the eNOS gene rs3918188 and rs1799983 loci were found to be associated with susceptibility to SLE. This helps to deeply explore the mechanism of eNOS gene and genetic susceptibility to SLE. It provides a certain research basis for the subsequent exploration of the molecular mechanism of these loci and SLE, as well as the early diagnosis, treatment and prognosis of SLE.

Creating Edinburgh: diffracting interdisciplinary learning and teaching in the contemporary city

This article follows an experimental interdisciplinary undergraduate course in the busy, unpredictable space of the contemporary city. It locates practice-based research of interdisciplinary higher education in a dynamic learning environment, which is comprised of unpredictable connections between disciplinary perspectives. Following Karen Barad, the aim is to diffract interdisciplinary higher education in order to recognise and work with a multiplicity of meanings and experiences. This article explores an alternative to the dominant model of challenge-based learning in the interdisciplinary classroom. Creating Edinburgh: The Interdisciplinary City is an undergraduate elective offered by Edinburgh Futures Institute at the University of Edinburgh. It provides students with opportunities to explore the city of Edinburgh in small groups of students from a wide range of degree programmes. Groups are invited to engage with a selection of themed fieldwork topics throughout the 11 weeks of the course, visiting specific sites and responding to a series of tasks and questions. These include themes such as Sustainability, Decolonisation and Wildness, which are presented as interdisciplinary field topics to explore rather than problems to solve. This article develops a research methodology that sets out to travel with students as they navigate their way through the city during their weekly field trips. Combining first-hand autoethnographic accounts with walking interviews, it offers an insight into interdisciplinary learning and teaching in the expanded field of the contemporary city. Conceiving urban space as an assemblage of digital and non-digital objects, events and activities, members of the research team accompany students during their fieldwork, equipped with audio recorders, cameras and notebooks. The documents of these research journeys are then diffracted within a new materialist framework. The article concludes with questions and prompts for working with the agency and the affordances of a field-based education practice.

Sexual Futures and Creative Practice: Engagements in World-Building

ABSTRACT This paper outlines the inception, process, and key findings of five creative arts workshop held with 28 students in 2022 at Newcastle University. Participants engaged in crafting exercises and semi-structured discussions about sexual ethics grounded in lived experience. Sexual consent and novel models of sexual ethics were discussed, as well as an approach called a pleasure and care-centred ethic of embodied and relational sexual Otherness. Using an iterative form of thematic analysis, four core themes were identified: namely, culture and ethnocentrism, gendered sexual scripts/sexual-gendered scripts, heteronormativity, and pleasure. Analysis of the art objects also yielded findings related to anger, gendered norms, communication, and obligation. This project examined how university students felt about consent as the dominant model of sexual ethics and explored other possibilities using discourse and crafting to engage with lived experience. This article aims to capture these findings while also placing the workshops and its findings in methodological and socio-cultural context.

Exploring the Role of the TAS2R16 Protein and Its Single Nucleotide Variants in Pituitary Adenoma Development.

Pituitary adenoma (PA) is a common benign tumor that develops in the pituitary gland, causing hormonal imbalances and potential health issues. The TAS2R16 gene codes for a taste receptor and is involved in bitter taste perception, but there is currently no known direct link between this gene and pituitary adenoma. This study included 221 healthy controls and 131 patients with pituitary adenoma (PA) from the Lithuanian population. DNA was isolated from peripheral venous blood using the salt precipitation method. Genotyping was performed via RT-PCR. Statistical analysis was conducted with IBM SPSS Statistics 29.0 software, incorporating the Bonferroni correction for multiple comparisons. This study found that the TAS2R16 rs978739 C allele is less common in the non-invasive PA group compared to the control group (p = 0.045). The TAS2R16 rs860170 CT genotype reduces the likelihood of developing non-invasive PA by 1.9-fold under the codominant (p = 0.024) and overdominant (p = 0.030) models. The odds of developing non-invasive PA are reduced by 2-fold under the dominant (p = 0.021) model for TAS2R16 rs860170 CT + CC genotypes and by 2-fold under the additive (p = 0.018) model for each TAS2R16 rs860170 C allele. The PA group had higher serum levels of TAS2R16 than the control group (p < 0.001). The present study found that patients with the TAS2R16 rs978739 TT or CT genotype had higher serum TAS2R16 levels and protein concentrations than healthy individuals (p = 0.025 and p = 0.019, respectively), and those with the AA or AG genotype of TAS2R16 rs1357949 had higher protein concentrations (p = 0.005 and p = 0.007, respectively). The TAS2R16 rs978739 C allele was less common in the non-invasive PA group compared to the control group, while the TAS2R16 rs860170 CT genotype was linked to a reduced likelihood of developing non-invasive PA. Additionally, the PA group showed higher serum levels of TAS2R16, and increased serum protein concentrations were observed in PA patients with specific TAS2R16 variants.

Diagnostic value of Gd-EOB-DTPA-enhanced MRI radiomics models for dual-phenotype hepatocellular carcinoma

Objective: To develop and validate clinical and radiomics models based on gadolinium ethoxybenzyl diethylenetriamine pentaacetic acid (Gd-EOB-DTPA)-enhanced MRI of dual-phenotype hepatocellular carcinoma (DPHCC) for preoperative differential diagnosis. Methods: Two hundred and fifty inpatients of hepatocellular carcinoma (HCC) confirmed by postoperative pathology, who underwent Gd-EOB-DTPA-enhanced MRI were retrospectively included. A total of 172 inpatients (72 DPHCC and 100 non-DPHCC) were included in Institution 1 (the First Affiliated Hospital of Soochow University) as a training cohort (between January 2020 and July 2023) and 78 inpatients (44 DPHCC and 34 non-DPHCC) were included in Institution 2 (the Third People's Hospital of Nantong) as an external validation cohort(between January 2019 and July 2023). The regions of interest of the tumor were delineated layer by layer in noncontrast phase, arterial phase (AP), portal venous phase (PP) and hepatobiliary phase (HBP) images. The software of FAE was used to extract the radiomics features of the images. Pearson correlation analysis and recursive feature elimination were used for feature selection. Each phase and combined radiomics models were established using logistic regression, linear discriminant analysis and support vector machine. Receiver operating characteristic curve and the areas under the curve (AUC) were used to evaluate and select the dominant radiomics model. The dominant radiomics model was combined with clinically independent predictors to construct a clinical radiomics model. Delong test was used to compare the performance of the models. Results: The age of the training cohort was (59.6±10.4) years, in which there were 135 men (78.5%). In the external validation cohort, the age was (57.8±9.2) years, including 56 men (71.8%). The maximum diameters of the lesions [M (Q1, Q3), 4.7 (2.6, 7.5) vs 2.7 (1.8, 4.4) cm, P<0.001] and the proportion of the multiple lesions (39.5% vs 16.7%, P<0.001) in the training cohort were higher than those in the external validation cohort. In the training group, the proportion of patients with hepatitis B virus (HBV) infection in the DPHCC subgroup (66.7%,48/172) was higher than that in non-DPHCC subgroup (49.0%,49/78,P=0.021). In the external validation cohort, the AUC (95%CI) of the PP [0.835 (0.733-0.937)] and combined radiomics models [0.786 (0.681-0.891)] were significantly higher than that of noncontrast phase [0.451 (0.319-0.584)], AP [0.566 (0.435-0.696)] and HBP models [0.496 (0.363-0.629)] (all P<0.05). There was no significant difference in AUC between PP radiomics model and combined radiomics model (P=0.189). The AUC between the radiomics models and clinical-radiomics models, which were brought into clinically independent variable HBV, showed no significant difference (all P>0.05). Conclusion: Gd-EOB-DTPA-enhanced MRI radiomics model based on portal venous phase may be available for discriminating DPHCC from non-DPHCC before operation.

El Lugar de las mujeres y la familia en la historia del yacimiento estatal de Chuquicamata entre 1970 y 2020

Over a century of existence, Chuquicamata-CODELCO company in Chile has deployed strategies that strengthen identities and loyalties that underlie a hegemonic model of male dominance, so far without counterpoint in Chilean mining. In this article, we explore how the copper industry has shaped subjectivities, social relations and loyalties among workers at the Chuquicamata mine from a gender perspective. We explore the interaction between the concreteness of the copper activity and the process of subjectivation that has generated, on the one hand, shared identities and, on the other, particular social configurations. We also observe practices of constitution of masculinized mining bodies and the way in which they are linked to family and work identities developed in different domestic and productive spaces and controlled in different ways by the company.

Association of TLR4 polymorphisms (Asp299Gly and Thr399Ile) with sepsis: a meta-analysis and trial sequence analysis.

Several investigations have been carried out to explore the genetic association of TLR4 codon variants, specifically Asp299Gly and Thr399Ile, and susceptibility to sepsis, but the results have been contradictory. The present study aimed to conduct a meta-analysis to draw a definitive conclusion regarding the role of TLR4 genetic variants (Asp299Gly and Thr399Ile) in sepsis. A thorough literature search was conducted using the PubMed, Scopus, and Science Direct databases. The inclusion and exclusion criteria were established to ensure the accuracy of the data. The Comprehensive Meta-Analysis Software v4 was utilized to perform the meta-analysis and related analyses. A total of 13 studies were analyzed, including 2328 sepsis cases and 2495 healthy controls for the TLR4 Asp299Gly variant. Eight studies provided genotype data for the rs4986791 polymorphism. The Asp299Gly variant showed a marginal protective effect in the allele (p = 0.08, odds ratio = 0.71) and dominant (p = 0.09, odds ratio = 0.71) genetic models, although it was not statistically significant. The trial sequential analysis indicated that further case-control studies are necessary to draw definitive conclusions about the TLR4 polymorphisms in sepsis. The TLR4 Asp299Gly variant may have a protective effect against sepsis. However, additional research with larger sample sizes across diverse populations is required to validate this finding.

An association between fat mass and obesity-associated (FTO) (rs9939609) and kisspeptin-1 (KISS-1) (rs4889, rs372790354) gene polymorphisms with polycystic ovary syndrome: an updated meta-analysis and power analysis.

The present meta-analysis aimed to investigate FTO rs9939609 and KISS1 rs4889, rs372790354 gene polymorphisms and its association with PCOS in Asian population. The studies included in this article were obtained by using online databases. We searched databases such as Scopus, PubMed, Embase, and Web of Science for case-control articles related to FTO and KISS1 gene polymorphism with PCOS. Metagenyo software was used to determine the 95% confidence interval (CI) and odds ratio (OR). A total of 13 articles was included in this meta-analysis for FTO (rs9939609) and KISS1 (rs4889; rs372790354) gene polymorphisms related with PCOS in the Asian population. According to the findings of this study, people with FTO rs9939609 show an association with PCOS risk in dominant model. On contradictory, KISS1 gene polymorphism specifically, rs4889 show an association with PCOS risk in allelic, recessive, and dominant models whereas rs372790354 show an association with PCOS risk in allelic and dominant models. Power analysis was performed and PPI is > 0.04. The sting analysis network for FTO and KISS1 gene estimated 12 nodes and 23 edges. The FTO rs9939609 variant exhibits an association with an increased risk of PCOS in the dominant model. KISS1 gene polymorphism, particularly rs4889, shows a significant association with PCOS risk in allelic, recessive, and dominant models. Similarly, KISS1 rs372790354 gene is associated with PCOS risk in both allelic and dominant models. Researches were focused only on the Asian population so; it is imperative to conduct further research across diverse populations.

Association of Vitamin D receptor gene polymorphisms (FokI, ApaI, TaqI), metabolic features and susceptibility to polycystic ovary syndrome: a preliminary single center case-control study

Research questionAre the combined genotypes and haplotypes of VDR gene polymorphisms (FokI, ApaI, TaqI) associated with PCOS susceptibility and metabolic features of the disease? DesignWe performed a case-control study, including 46 women with PCOS and 48 controls. Genotypes of VDR genes were determined using the PCR-RFLP (restriction fragment length polymorphism) method. In all women, the waist circumference, parameters of lipid and glucose metabolism were evaluated. ResultsPCOS group presented higher waist circumference and visceral adiposity index (VAI) levels compared to controls. Total cholesterol, LDL-C and triglycerides had higher values in PCOS women. VDR-FokI C/C (F/F) genotype had significantly higher odds of PCOS (adjusted OR = 6.27, 95% CI: 1.53-25.65). VDR-Apal was associated with susceptibility to PCOS in the dominant model, the variant genotype (A/C-A/A) (A/a- a/a) had higher odds of PCOS than the wild genotype C/C (A/A) (adjusted OR = 3.15, 95% CI: 1.07-9.32). Haplotype analysis revealed that T-C- T (f-A-T) haplotype was statistically associated with lower odds of PCOS (adjusted OR = 0.10, 95% CI: 0.01-0.95). PCOS women with VDR-Fokl T/T (f/f) genotype had lower fasting glucose and higher VAI levels compared to C/T (Ff) or C/C (F/F) genotype. ConclusionThe present findings suggest the association between FokI and ApaI polymorphisms and PCOS susceptibility. Moreover, T/T (f/f) genotype of VDR-FokI could be a marker of decreased fasting glucose in PCOS. TaqI polymorphism did not reveal a relationship with PCOS susceptibility in our study population.

Associations between single nucleotide polymorphisms of cytokines and hepatitis B virus-related liver cirrhosis: A case-controlstudy.

Various inflammatory and immune cytokines play key roles in the progression of hepatitis B virus (HBV)-related liver cirrhosis (LC). This study explored the relationship between single nucleotide polymorphisms (SNPs) in cytokines with the combined effect of polymorphisms and gender-polymorphisms interaction and LC risk. In this study, a case-control design was used, samples were selected from 45 patients with hepatitis B-related cirrhosis and 45 age-gender-matched chronic HBV-infected patients without cirrhosis attending the tumor hospital of Wuwei Academy of Medical Sciences. Fifteen SNPs were examined using a real-time polymerase chain reaction allelic discrimination system. Logistic regression was utilized to assess cytokine-associated SNPs and the association between SNPs and LC progression in HBV-infected patients. The multivariate-adjusted logistic model revealed that the GG/AG dominant model (OR, 16.38; 95% CI, 1.13-236.70) and G allele (OR, 5.93; 95% CI, 0.98-36.01) of rs1800896 were associated with an increased risk of cirrhosis in CHB patients. Instead, rs2227306 CT presented a reduced cirrhosis risk (OR, 0.22; 95% CI, 0.04-1.38). Rs2055979 AA/AC was negatively associated with the risk of cirrhosis, potentially reversed in males (p = 0.021). Rs1799964 CC/CT was positively related to the risk of cirrhosis but reduced the risk of cirrhosis in males (OR, 0.13; 95% CI, 0.022-0.808; p = 0.028). Both rs1799964 TT and rs1799724 CT/TT genotype showed a synergistic effect in reducing the risk of cirrhosis with rs1800896 AA (OR, 0.08; 95% CI, 0.01-1.43 and OR, 0.12; 95% CI, 0.01-2.21). Polymorphisms rs1800896 and rs2227306 are potentially associated with the risk of cirrhosis. For the first time, the study highlights that the rs2055979 AA/AC and rs1799964 CC/CT polymorphism interact with gender and its potential reversal of cirrhosis risk in males. Furthermore, rs1800896 AA showed a synergistic effect with rs1799964 TT and rs1799724 CT/TT to prevent the progression of HBV infection to cirrhosis.

Association between DEFB1 rs11362 and Caries Susceptibility in Permanent Dentition: A Cross Sectional Study.

Dental caries is a multifactorial chronic bacterial infectious disease. Variations in the predisposition of the general population to dental cavities suggest that genetic and immunological factors play significant roles in its pathogenesis. This study aims to explore the impact of the Beta-Defensin 1 (DEFB1) rs11362 polymorphism on caries susceptibility in permanent dentition among the Bai Kuyao and Zhuang ethnic groups in China. A sample of 754 adolescents aged 12-15 was randomly selected from primary and junior high schools in Nandan County, Guangxi, China. All adolescents underwent clinical examinations, and DNA samples were collected. The genotype of DEFB1 rs11362 was determined using single nucleotide polymorphism (SNP) typing. The concentration of human β Defensin 1 (hBD-1) protein in saliva was measured using a double-antibody sandwich enzyme-linked immunosorbent assay (ELISA). The distribution of the DEFB1 rs11362 T allele was lower in the Bai Kuyao group compared to the Zhuang group. The disparity in the rs11362 genotype was statistically significant in the superficial dentin caries subgroup of the Bai Kuyao population (p = 0.017). Following adjustment for all potential confounding variables, the analysis revealed a heightened risk of superficial dental caries among CT genotype carriers in the Bai Kuyao population under a co-dominant model (odds ratios (OR) = 2.70; 95% confidence intervals (CI) [1.35-5.44]; p = 0.005), and an increased risk among CC genotype carriers in the Bai Kuyao population under a dominant model (OR = 2.35; 95% CI [1.18-4.67]; p = 0.015). A significant difference (p < 0.05) was noted in the distribution of rs11362 genotypes and salivary hBD-1 levels among the Bai Kuyao group. Salivary hBD-1 levels were notably higher in the CC genotype group (4.12 ± 2.07 ng/mL) compared to both the CT (2.77 ± 1.62 ng/mL) and TT genotype groups (2.32 ± 0.98 ng/mL). The DEFB1 rs11362 polymorphism showed an association with caries susceptibility in permanent teeth and influenced hBD-1 protein expression in saliva. Consequently, the DEFB1 polymorphism likely represents a concealed risk factor for caries.