Effect Of Genotype Research Articles

Analysis of genotype-by-environment interaction effect in barley genotypes using AMMI and GGE biplot methods

Genotype-by-environment interaction (GEI) analysis play a key role in any breeding program involving the development of new varieties for cultivation across various environments or in a specific region. The additive main effects and multiplicative interaction (AMMI) method and the GGE biplot are the two main statistical tools that have emerged to analyze GEI in multi-environment trials (METs). The main goal of the present study was to identify the best-performing and stable barley genotypes for the warm regions of Iran. For this purpose, 18 new advanced barley genotypes were investigated in five warm locations in Iran during two cropping seasons (2021–2023). In all experiments, test genotypes were evaluated in a randomized complete block design (RCBD) with three replications. Based on results, grain yield was significantly dependent on environments (E), genotypes (G), and GEI. The GEI effect was further divided into three principal component axes (IPCAs). The AMMI method identified genotypes G3, G9, G10, and G14 as ideal genotypes due to their low IPCA scores and high performances. In the GGE biplot analysis, the initial two PCAs accounted for 49.36 % of the total variation of grain yield, including both G and GEI effects. Based on averaged two-year data, genotypes G3, G4, G10, and G14 showed particular adaptability in the Zabol and Moghan regions. Moreover, the ranking of test environments showed good discriminatory and representative abilities for the Zabol and Moghan regions, so these environments constituted a mega-environment in Iran's warm climate. The genotype ranking indicated G3, G10 and G14 genotypes as the superior genotypes with the highest grain yield and stability in different test environments. Moreover, these results were confirmed by the results obtained by WAASB and WAASBY biplots. In conclusion, genotypes G3, G10 and G14 can be suggested for commercial usage and cultivation in various regions in Iran's warm climate.

Effects of pollination and plant genotype on Ustilago maydis disease development on the ears of maize inbreds and maize‐teosinte near‐isogenic lines

AbstractUstilago maydis, the fungus that causes corn smut disease, leads to significant economic losses in maize cultivars. A key feature of successful plant pathogens is their ability to utilize the plant–pathogen relationship to influence disease progression. Greenhouse experiments examined how pollination and plant genotype affect disease incidence and severity of U. maydis infection. Four U. maydis susceptible maize inbreds (B73, H95, Mo17, and Golden Bantam), and two U. maydis resistant maize‐teosinte near‐isogenic lines (NIL1 and NIL2) were utilized for this work. Three‐hundred and sixty plants (pollinated and unpollinated) from the six plant genotypes were inoculated with U. maydis and assessed based on five phenotypic traits [(1) disease incidence, (2) gall number, (3) gall weight, (4) disease severity, and (5) area under disease progress curve]. All pollinated plants demonstrated significantly (p < .001) lower disease incidence, gall number, gall weight, area under the disease progress curve, and severity in comparison to the unpollinated plants. Both pollinated resistant NILs demonstrated significantly (p < .001) less disease development than the pollinated susceptible maize plants and two unpollinated NILs. Therefore, disease resistance to U. maydis was dependent upon pollination and plant genotype. This provides novel evidence that pollination can significantly improve resistance to U. maydis in different plant genotypes. Enhanced disease resistance observed in the resistant NILs after pollination indicates pollination‐mediated resistance is one of the resistance mechanisms functioning in the resistant NILs. Integration of pollination‐mediated resistance and resistance introgressed from a maize progenitor will be useful for improving resistance to U. maydis and management of the disease.

Association of synuclein alpha (SNCA) gene polymorphisms with spontaneous brain activity in patients with Parkinson's disease.

The synuclein alpha (SNCA) gene responsible for encoding alpha-synuclein, is believed to play a crucial role in the pathogenesis of Parkinson's disease (PD). However, the specific impact of SNCA gene single-nucleotide polymorphisms (SNPs) on brain function in PD remains unclear. Therefore, this cross-sectional retrospective study, particularly through use of imaging analysis, aimed to characterize the relationship between SNCA gene SNPs and spontaneous brain activity in PD in order to enhance our understanding of the mechanisms underlying PD pathogenesis. A total of 63 patients with PD and 73 sex- and age-matched healthy control (HC) participants were recruited from outpatient and inpatient clinics at Fujian Medical University Union Hospital from August 2017 to November 2019, and all underwent a resting-state functional magnetic resonance imaging (rs-fMRI) scanning. All participants were also examined to determine the correlation of different genotypes with regional brain activity measured by rs-fMRI using amplitude of low-frequency fluctuation (ALFF) analysis. Multivariate regression analysis was used to calculate the correlation between the brain function data and clinical features. All rs-fMRI data were analyzed with the SPM12 software and adjusted according to the false discovery rate (FDR) at the cluster level. This study included 63 patients with PD and 73 sex- and age-matched healthy participants were included in the study. The spontaneous brain activity in the right superior cerebellum (Cerebelum_Crus1_R), vermis (Vermis_7), and left supplementary motor area (Supp_Motor_Area_L) of patients in the PD group was weak compared to that in the HC group. The z-score ALFF of left central posterior gyrus was positively correlated with the Mini-Mental State Examination score (r=0.542; P<0.001) in the PD group. For rs11931074, the main genotypic effects were found in the left inferior cerebellum (Cerebellum_9_L) and right anterior cingulate and paracingulate gyri (Cingulum_Ant_R); for rs356219 and rs356165, the main genotypic effects were found in the left caudate nucleus (Caudate_L). An interaction effect of disease with genotype was found in the right inferior parietal gyrus (Parietal_Inf_R) only for rs356219. Our study found a correlation of the SNCA SNPs rs11931074, rs356219, and rs356165 with brain functional alterations in patients with PD. Furthermore, an interaction effect was found in the right inferior parietal gyrus only for rs356219. This study may contribute to furthering the understanding of the influence of SNCA gene SNPs on brain function in patients with PD.

Association of MTHFR C677T, MTHFRA1298C, and MTRRA66G Gene Polymorphisms with Hyperhomocysteinemia and Its Modulation by the Combined Effect of Vitamin B12 and Folate in Chinese Population with Hypertension

BackgroundIn China, the MTHFR 677T allele, unlike in most Western populations, is a rare genetic variant linked to various disorders. The contributing nutritional and genetic factors to this genetic risk remain unclear. ObjectiveThis study aimed to elucidate the interactions between genetic variations in total homocysteine (tHcy) pathway genes, serum tHcy concentrations, and nutritional factors in a Chinese population with hypertension. MethodsThis study analyzed 1304 Chinese adults with hypertension aged ≥18 y enrolled in the China Precision Nutrition and Health KAP Real World Study (CPNAS). Serum concentrations of vitamin B12 and folate were measured using the magnetic microparticle chemiluminescence method, and tHcy concentrations were measured using Hcy Assay kits. Identification of the MTHFR C677T, MTHFR A1298C, and MTRR A66G polymorphisms was performed via time-of-flight nucleic spectrometry. ResultsOur findings revealed significant sex differences in tHcy concentrations, with males exhibiting higher tHcy concentrations than females (13.95 μmol/L vs. 11.15 μmol/L, P < 0.001). Individuals deficient in both vitamin B12 and folate had an increased risk of hyperhomocysteinemia (H-Hcy) (57.4%). In contrast, the prevalence of H-Hcy was lower among those deficient in either vitamin B12 (31.1%) or folate (23.2%) alone. Significant associations were identified between the MTHFR C677T and A1298C polymorphisms and elevated serum tHcy concentrations, particularly in individuals homozygous for the T allele. Conversely, the MTRR A66G genotype did not show a significant correlation with tHcy concentrations. Optimal vitamin B12 concentrations significantly modulated the genotypic effect on tHcy concentrations, with individuals having adequate vitamin B12 and folate exhibiting low tHcy concentrations, even among high-risk genotypes (TT). ConclusionsAdequate concentrations of folate and vitamin B12 significantly reduce serum tHcy concentrations and mitigate the genotypic impact on tHcy concentrations, highlighting the potential for targeted nutritional interventions to manage cardiovascular risks associated with H-Hcy.This trial was registered at clinicaltrials.gov as ChiCTR2100051983.

Meta-Analysis of Noncompartmental Pharmacokinetic Parameters to Evaluate the Impact of CYP2C19 and CYP2C9 Genetic Polymorphisms on Abrocitinib Exposure.

Abrocitinib is a selective Janus kinase 1 inhibitor approved for the treatment of atopic dermatitis. It is metabolized primarily by cytochrome P450 (CYP) 2C19 (approximately 53%) and CYP2C9 (approximately 30%), which form 2 active metabolites. The pharmacologic activity of abrocitinib is attributable to the unbound exposures of abrocitinib and those metabolites with active moiety area under the plasma concentration-time curve (AUC) considered the best measure of the total pharmacological effect. The effect of CYP2C19 and/or CYP2C9 genotypes on abrocitinib and active moiety exposures were evaluated using a meta-analysis of the noncompartmental estimates of exposure pooled from 10 clinical studies. A linear mixed-effects model was developed on the basis of the power model to evaluate the effect of CYP2C19 and/or CYP2C9 genotypes on exposure (i.e., abrocitinib AUC and peak plasma concentration, active moiety AUC and peak plasma concentration). The genotypes were evaluated individually and as a combined phenotype effect. When evaluating the poor metabolizers of CYP2C19 or CYP2C9 individually, the estimated increases were 44.9% and 42.0% in active moiety AUC, respectively. The combined phenotype models showed a 0.6% decrease, and 25.1% and 10.5% increases in the active moiety AUC for "elevated," "mixed," and "reduced" metabolizers, respectively. Overall, the active moiety exposures did not appear to be affected to a clinically meaningful extent by different genotypes of CYP2C19 and/or CYP2C9.

Effect of Severe Fever With Thrombocytopenia Syndrome Virus Genotype on Disease Severity, Viral Load, and Cytokines in South Korea.

Severe fever with thrombocytopenia syndrome (SFTS) is an emerging tick-borne disease caused by Bandavirus dabieense (SFTS virus [SFTSV]). Recently, at least 6 different genotypes of SFTSV have been identified, with genotypes A, D, and F dominant in China and B dominant in Japan and Korea. This study investigated the effect of SFTSV genotypes circulating in South Korea on disease severity, viral load, and cytokine profile. We prospectively enrolled 70 patients with SFTS from July 2015 to June 2022. Serial plasma samples were obtained during hospitalization and analyzed. Viral load was measured by real-time reverse-transcription polymerase chain reaction. Partial sequences of the viral genome were analyzed for genotyping. Plasma concentrations of 17 cytokines were measured by multiplex-bead immunoassay. Of 70 samples, 51 could be genotyped. Genotype B was predominant (80.4%) and other genotypes were uncommon. Intensive care unit admission rates (51.2% vs 50.0%) and mortality rates (26.8% vs 40.0%) did not show any significant differences between genotype B and non-B genotypes. The initial viral load did not show any significant differences (3.59 vs 3.64 log copies/μL), whereas viral load measured at hospital day 3-4 tended to be higher in genotype B than non-B genotypes (3.83 vs 1.83 log copies/μL, P = .07). Additionally, the plasma concentrations of interferon-α, interleukin 10, and interferon-γ-induced protein 10, which are closely related to mortality in cases of SFTS, did not show any significant differences. SFTSV genotype B was the prevalent genotype in South Korea, with no genotype-specific difference in clinical outcomes, initial viral load, or cytokine profiles.

Stability of fruit ripening traits of banana (Musa species) across postharvest environments

Banana (Musa species) is the fourth most important export crop worldwide after cereals, oil crops and sugar. In spite of this socio-economic significance, the crop suffers massive postharvest losses caused by mechanical fruit damage, limited infrastructure for fruit ripening, postharvest diseases and physiological disorders. Although use of optimum postharvest environments such as packaging and storage temperatures can reduce fruit loss and improve ripening quality; information regarding the interaction between varieties and postharvest environments and stability of fruit ripening traits across postharvest environments is limited. The objectives of this study were to determine the magnitude of interaction of varieties with postharvest environments on fruit ripening traits and to identify stable banana variety for ripening across postharvest environments. Seven commonly grown banana varieties (Dwarf Cavendish, William I, Grand Naine, Poyu, Giant Cavendish, Butazu and Local variety) were laid out in a completely randomized design with five replications in ten varied postharvest environments. The result indicated that pulp and peel ratio had negative high principal component one (PCA1) score whereas the PCA1 score for postharvest period, peel weight and fruit weight were positive and high. Cluster analysis grouped Dwarf Cavendish and Grand Naine; Poyu and Butazu varieties together for postharvest traits whereas the local variety was clustered separately. This study has demonstrated that hybridization of local with the introduced varieties can be done to improve postharvest traits. AMMI depicted significant variation for genotype, postharvest environments and their interactions for all traits. The magnitude of environmental effect was higher than the genotype and interaction effects. AMMI and GGE biplot analyses identified Gran Naine, Poyu and William I as consistent for ripening traits across postharvest environments.

Impact of Matrix Metalloproteinase-8 Polymorphisms on Nasopharyngeal Carcinoma Risk.

Upregulation of matrix metallo-proteinase-8 (MMP-8) serves as a protein-based indicator for predicting nasopharyngeal carcinoma (NPC) metastasis. Nevertheless, the role of MMP-8 genotypes in NPC has never been investigated. This study aimed to explore the involvement of MMP-8 genotypes in NPC development. We employed the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) technique to analyze MMP-8 genotypes, specifically C-799T (rs11225395), Val436Ala (rs34009635), and Lys460Thr (rs35866072), in a Taiwanese cohort comprising 208 NPC cases and 416 healthy controls. Individuals with either heterozygous or homozygous variant genotypes of MMP-8 rs11225395 showed no significant change in NPC risk compared to those with the wild-type genotype [odds ratio (OR)=0.97 and 0.79, 95% confidence intervals (95%CI)=0.68-1.38 and 0.46-1.36; p=0.9304 and 0.4736, respectively]. Similarly, there was no significant association between the heterozygous genotypes of MMP-8 rs34009635 and NPC risk (OR=0.66, 95%CI=0.24-1.84; p=0.5738). For MMP-8 rs35866072, all individuals in the study were of the TT genotype. Furthermore, the presence of variant alleles at MMP-8 rs11225395 or rs34009635 did not result in altered NPC risk (OR=0.91 and 0.66, 95%CI=0.71-1.16 and 0.24-1.84, p=0.4876 and 0.5769, respectively). Additionally, no significant association was observed between MMP-8 rs11225395 variant genotypes and NPC risk among individuals regardless of smoking, alcohol consumption, or betel quid chewing habits (all p>0.05). There was no association between the MMP-8 genotypes rs11225395, rs34009635, or rs35866072 and NPC risk among Taiwanese individuals. Moreover, no combined effects of MMP-8 genotype with smoking, alcohol consumption, or betel quid chewing habits on NPC risk were observed.

Role of miRNA Gene Variants (miR-22 and miR-155) as the Factors Affecting Susceptibility to Panic Disorder.

Variants within genes encoding microRNAs (miRNAs) may alter the expression of both miRNAs and their target genes, thus contributing to the etiology of psychiatric disorders. The involvement of miRNAs in neuronal differentiation and synaptic plasticity supported this hypothesis. We aimed to investigate the links between miR-155 rs767649/miR-22 rs8076112 and the risk of panic disorder (PD) in a sample of Turkish population. In this experimental study, 134 PD patients and 140 healthy controls were recruited. Genotyping was carried out using Polymerase Chain Reaction-Restriction Fragment Length Polymorphism (PCR-RFLP) method. To evaluate PD phenotypes, Panic Disorder Severity Scale (PDSS) was also administered to patients to clarify possible associations between the scale and risk variants analyzed. The genotype analysis of miR-155 rs767649 did not show an association with PD risk and it was not related to the disease severity. For miR-22 rs8076112 variant, a statistically significant association was determined; CC genotypes were lower in patients compared to controls. Logistic regression analysis proved the highly protective effect (80.4%) of CC genotype against PD (p = 0.041; OR = 0.196, 95% CI = 0.041-0.934). Though its significance in disease liability, miR-22 rs8076112 was not associated with the disease severity. Our findings firstly report the combined analysis of miR-155 rs767649 and miR-22 rs8076112 in PD in terms of both disease susceptibility and severity. These findings await replication in independent cohorts with enrichment of other miRNA gene variants. Thus, certain miRNAs and their target genes involved in the etiology and phenotypes of PD could be enlightened.

Genotype and environmental interactions determine the root digging time and essential oil production in vetiver (Chrysopogon zizanioides (L.) Roberty)

Thirty different vetiver genotypes were grown for evaluation in the experiments at CSIR- Central Institute for Medicinal and Aromatic Plants (CSIR-CIMAP), Lucknow, U.P. 226015, India, to assess the impact of genotype × environment interactions (GEI) on essential oil yield and chemical composition in vetiver lines grown in north India, as well as identifying appropriate genotypes and representative root digging times throughout the year for essential oil production. The interplay of genotype and environment is a significant constraint in crop development. The additive main effects and multiplicative interaction (AMMI) and the analysis of variance (ANOVA) revealed significant effects for genotype (G), environment (E), and genotype × environment (GE) (p < 0.01). The primary root transverse section confirmed the changes in cortical sclerenchyma thickness and variety observed in the dug-out roots from different vetiver genotypes after six and twelve months. The quantity and number of sclerenchyma rows in the peripheral cortical region vary throughout vetiver genotypes. Following root digging, one component (Khusol content) had 40 %, while Khusilal content had 20 % for genotype VTR-23. However, after twelve months, Khusol content had 19 %, whereas Khusilal content had 41 %. The shift in essential oil makeup was apparent. The level of essential oil did not alter considerably. Based on the GGE biplot analysis, VTR-1, 11, and 14 were identified as the most stable genotypes with high essential yields; therefore, it is recommended to use these genotypes in India's enormous agriculture.

The influence of genotype and sex on carcass composition, meat quality, digestive system morphometry and leg bone dimensions in Japanese quails (C. coturnix japonica)

Japanese quails (Coturnix japonica) have a high reproductive rate because they reach sexual maturity very early. This short rearing time results in increasing interest among breeders and consumers. The aim of the study was a comparative analysis of two genotypes and sexes of Japanese and Pharaoh quails and their impact on body weight, carcass composition, meat quality, digestive system morphometry and leg bone dimensions. The study involved 40 birds (10 females and 10 males), Japanese quail and Pharaoh quail, 42 days old. Quail genotype had an effect (P < 0.05) on body weight, carcass weight, and some percentage of carcass elements. In addition, there was a significant effect of quail genotype on intramuscular fat and water content of pectoral and leg muscles. The origin of the quails interacted (P < 0.05) with the lightness (L*), yellowness (b*), cutting work, hardness, springiness, chewiness, gumminess, fibre cross-sectional area, vertical fibre diameter, and perimysium thickness of pectoral muscle. In addition, genotype was found to influence some anatomical traits, such as the percentage of proventriculus, heart, and liver on body weight, lengths and diameters of duodenum, caeca, and colon, and most dimensions of leg bones (femur and tibia). The sex of the birds significantly (P < 0.05) affected body weight, carcass weight, percentage of skin with subcutaneous fat in the carcass, as well as water content, lightness (L*), and springiness, most microstructure characteristics of pectoralis muscle, and also water and protein contents, and yellowness (b*) of leg muscles. In addition, differences were found between males and females (P < 0.05) in terms of duodenum and caeca diameter, length of greatest and medial femur, and greatest length of tibia. It can be stated that in terms of body weight and carcass weight as well as some meat quality features (protein content, fat content, fiber cross-sectional area), the pharaoh quail was the better genotype, while in terms of the proportion of muscles in the carcass and selected meat quality features: hardness, gumminess, chewiness, Japanese quails turned out to be better.

Path Analysis and Correlations Among Yield and Related Traits in Different Genotypes of Soybean (Glycine Max (L.) Merill) in the Benishangul Gumuz Region, Western Ethiopia

Soybean is a warm-climate industrial crop, thrives in low- to medium-altitude legume crops. However, its production in Ethiopia lags behind global standards due to limited improved varieties and reliance on narrow genetic base materials, resulting in low productivity. Consequently, an experiment was undertaken to evaluate the genetic variability and associations among traits in various soybean genotypes concerning grain yield and related factors. Forty-nine soybean genotypes were assessed using a simple lattice design with two replications at Assosa Agricultural Research Center during the main cropping season of 2020. The majority of the characteristics displayed positive correlations both at phenotypic and genotypic levels. Seed yield had highly significant and positive correlations, genetically and phenotypically, with the total number of seeds/ plant, number of pods/primary branch per plant, and the weight of a hundred seeds, indicating the potential for concurrent enhancement of grain yields and these associated traits. The total number of seeds/ plant had the greatest genotypic (0.94) and phenotypic (0.51) -+direct influence on seed yield, followed by the number of pods/primary branch per plant and the weight of a hundred seeds, which showed higher genotypic direct effects on seed yield. This suggests that specific emphasis should be placed on these traits for direct selection aimed at improving yield. Moreover, through examinations of genetic diversity, it has been confirmed that there exists significant variability among the evaluated genotypes. This discovery offers valuable insights for future soybean breeding programs. The identification of such variability is crucial as it allows breeders to select and develop soybean varieties with desirable traits, ultimately contributing to the improvement and advancement of soybean varieties.

Impact of CYP1A2 Genotypes on the Ergogenic Effects and Subjective Mood States of Caffeine Ingestion in Resistance-Trained Women.

Caffeine's metabolism is determined by CYP1A2 genotypes: AC/CC (SLOW) and AA (FAST). This trial evaluated CYP1A2 genotypes' impact on exercise and cognitive effects in 36 resistance-trained females assessed under placebo (PL) and caffeine (6 mg/kg bw anhydrous caffeine-CAF) conditions, before ingestion and throughout the session. 23andMe® (San Francisco, CA, USA) determined genotypes using saliva. Data were analyzed using two-way RMANOVA and paired-samples t-tests (p < 0.05). A significant main effect for genotype existed for leg press repetitions to failure (RTF) for CAF (p = 0.038), with the FAST group performing more repetitions than the SLOW (p = 0.027). There was a significant condition x genotype interaction for the subjective outcome index score (p = 0.045), with significant differences for time (p < 0.01) and between genotype (p < 0.001). Follow-up analysis revealed a higher total score (p = 0.028) following CAF for the FAST group and a lower total score (p < 0.01) in the SLOW group. Dizziness was reported following CAF in the SLOW group (p = 0.014; Cohen's d = 0.725). Aside from leg press RTF, subjective outcome index score, and dizziness, the genotype groups experienced similar responses to resistance exercise performance and subjective mood states following caffeine ingestion.

TMEM132C rs7296262 Single-Nucleotide Polymorphism Is Significantly Associated with Nausea Induced by Opioids Administered for Cancer Pain and Postoperative Pain.

Opioids are almost mandatorily used for analgesia for cancer pain and postoperative pain. Opioid analgesics commonly induce nausea as a side effect. However, the genetic factors involved are still mostly unknown. To clarify the genetic background of individual differences in the occurrence of nausea during opioid administration, the incidence of nausea was investigated in 331 patients (Higashi-Sapporo Hospital [HS] group) who received morphine chronically for cancer pain treatment and in 2021 patients (Cancer Institute Hospital [CIH] group) who underwent elective surgery under general anesthesia. We conducted a genome-wide association study of nausea in HS samples. Among the top 20 candidate single-nucleotide polymorphisms (SNPs), we focused on the TMEM132C rs7296262 SNP, which has been reportedly associated with psychiatric disorders. The rs7296262 SNP was significantly associated with nausea in both the HS and CIH groups (TT+TC vs. CC; HS group, p = 0.0001; CIH group, p = 0.0064). The distribution of nausea-prone genotypes for the rs7296262 SNP was reversed between HS and CIH groups. These results suggest that the TMEM132C rs7296262 SNP is significantly associated with nausea during opioid use, and the effect of the SNP genotype on nausea is reversed between chronic and acute phases of opioid use.

Effect of Andean Lupin (Lupinus mutabilis) genotype and harvest altitude on the chemical composition and nutritional quality of flours

Andean Lupin (Lupinus mutabilis S.) or tarwi, a legume cultivated in the Andean region of South America, is considered a protein source. In this work, flours were prepared from different Andean Lupin genotypes, namely Cholo Fuerte (CHF), Común (CM), or Altagracia (ALT), grown at 2700 (1) or 3300 (2) meters above sea level. The effect of genotype and growth altitude on the chemical composition, color, phytochemical (alkaloids, free phenolics, fatty acids, and sterols) content, antioxidant activity, and microbiological quality of the flours was evaluated. CM-1 flour had higher protein, polyunsaturated fatty acid (PUFA), and Δ5-avenasterol content. CHF-1 flour had higher crude fiber, Δ7-campesterol, clerosterol, and saturated fatty acid (SFA) content and higher antioxidant activity. ALT-2 flour had the highest total sterol content, particularly stigmasterol and β-sitosterol. None of the flours contained alkaloids or microorganisms, confirming that the preparation process was efficient. Andean Lupin cultivated at high and low altitude provides flour with high phytosterol and PUFA content, respectively. CM-1 flour has potential use in the food and nutraceutical industry due to its higher protein, essential fatty acid or PUFA, and total sterol content as well as low SFA content.

Clinical and cognitive outcomes in first-episode psychosis: focus on the interplay between cannabis use and genetic variability in endocannabinoid receptors.

Research data show the impact of the endocannabinoid system on psychosis through its neurotransmission homeostatic functions. However, the effect of the endocannabinoid system genetic variability on the relationship between cannabis use and psychosis has been unexplored, even less in first-episode patients. Here, through a case-only design, we investigated the effect of cannabis use and the genetic variability of endocannabinoid receptors on clinical and cognitive outcomes in first-episode psychosis (FEP) patients. The sample comprised 50 FEP patients of European ancestry (mean age (sd) = 26.14 (6.55) years, 76% males), classified as cannabis users (58%) or cannabis non-users. Two Single Nucleotide Polymorphisms (SNP) were genotyped at the cannabinoid receptor type 1 gene (CNR1 rs1049353) and cannabinoid receptor type 2 gene (CNR2 rs2501431). Clinical (PANSS, GAF) and neuropsychological (WAIS, WMS, BADS) assessments were conducted. By means of linear regression models, we tested the main effect of cannabis use and its interaction with the polymorphic variants on the clinical and cognitive outcomes. First, as regards cannabis effects, our data showed a trend towards more severe positive symptoms (PANSS, p = 0.05) and better performance in manipulative abilities (matrix test-WAIS, p = 0.041) among cannabis users compared to non-users. Second, concerning the genotypic effects, the T allele carriers of the CNR1 rs1049353 presented higher PANSS disorganization scores than CC homozygotes (p = 0.014). Third, we detected that the observed association between cannabis and manipulative abilities is modified by the CNR2 polymorphism (p = 0.022): cannabis users carrying the G allele displayed better manipulative abilities than AA genotype carriers, while the cannabis non-users presented the opposite genotype-performance pattern. Such gene-environment interaction significantly improved the overall fit of the cannabis-only model (Δ-R2 = 8.4%, p = 0.019). Despite the preliminary nature of the sample, our findings point towards the role of genetic variants at CNR1 and CNR2 genes in the severity of the disorganized symptoms of first-episode psychosis and modulating cognitive performance conditional to cannabis use. This highlights the need for further characterization of the combined role of endocannabinoid system genetic variability and cannabis use in the understanding of the pathophysiology of psychosis.

Genotype-environment interaction for grain yield in maize (Zea mays L.) using the additive main effects and multiplicative interaction (AMMI) model.

Genotype-environment interaction consists of the different response of individual genotypes resulting from changing environmental conditions. Its significance is a phenomenon that makes the breeding process very difficult. On the one hand, the breeder expects stable genotypes, i.e., yielding similarly regardless of environmental conditions. On the other hand, selecting the best genotypes for each region is one of the key challenges for breeders and farmers. The aim of this study was to evaluate genotype-by-environment interaction for grain yield in new maize hybrids developed by Plant Breeding Smolice Co. Ltd., utilizing the additive main effects and multiplicative interaction (AMMI) model. The investigation involved 69 maize (Zea mays L.) hybrids, tested across five locations in a randomized complete block design with three replications. Grain yield varied from 8.76 t ha-1 (SMH_16417 in Smolice) to 16.89 t ha-1 (SMH_16043 in Płaczkowo), with a mean yield of 13.16 t ha-1. AMMI analysis identified significant effects of genotype, environment, and their interaction on grain yield. Analysis of variance indicated that 25.12% of the total variation in grain yield was due to environment factor, 35.20% to genotypic differences, and 21.18% to genotype by environmental interactions. Hybrids SMH_1706 and SMH_1707 are recommended for further breeding programs due to their high stability and superior average grain yield.

The Impact of Different MEFV Genotypes on Clinical Phenotype of Patients with Familial Mediterranean Fever: Special Emphasis on Joint Involvement

Familial Mediterranean Fever (FMF) is the most common monogenic autoinflammatory disease worldwide. In this retrospective cohort study, we aimed to assess the effects of various MEFV genotypes on the clinical characteristics of the patients, with a special focus on the joint involvement. In total, 782 patients with FMF were categorized into 3 groups according to the MEFV mutation; Group 1: Patients homozygous for M694V; Group 2: Patients carrying other pathogenic MEFV variants in exon 10 in homozygous or compound heterozygous states; and Group 3: FMF patients with other variants or without mutations. Clinical and demographic findings were compared between groups. Among the 782 FMF patients, total frequency of arthritis was 237 (30.3%): 207 (26.4%) were acute monoarthritis and 67 (8.5%) were chronic arthritis. Both the frequency of arthritis (acute and/or chronic) (40.4% vs. 24.8% vs. 26.7%; p:0.001) and acute monoarthritis (35.4% vs. 20% vs. 23.7%; p:0.001) were significantly higher in Group 1 than in the other groups. FMF patients with chronic arthritis showed a distinct juvenile idiopathic arthritis (JIA) distribution pattern with a more frequent enthesitis-related arthritis (ERA) subtype (43.2%). HLA-B27 was positive in 24% of the ERA patients.Conclusion: Homozygous M694V mutation is associated with a more frequent and longer acute monoarthritis comparing to other MEFV genotypes. In addition, the risk of chronic arthritis seems not related to the MEFV mutations. However, FMF patients with chronic arthritis show a distinct ILAR JIA distribution pattern with a more frequent ERA and undifferentiated arthritis subtype.What is known:• Homozygous M694V mutation is associated with a more frequent and longer acute monoarthritisWhat is new:• FMF patients with chronic arthritis show a distinct ILAR JIA distribution pattern with a more frequent ERA subtype• ERA patients with negative HLA-B27 antigen should also be assessed for polyserositis episodes of FMF, especially in countries with high FMF carrier frequency

DYNAMIC VIRAL LOAD MONITORING AND METAGENOMIC SEQUENCING IN ACUTE RETINAL NECROSIS CAUSED BY VARICELLA-ZOSTER VIRUS.

To analyze the trend of intraocular viral load after antiviral treatment in patients with varicella-zoster virus-induced acute retinal necrosis and to explore the effect of viral genotypes on clinical manifestations. In this case series, viral load was detected using polymerase chain reaction from aqueous humor during treatment; viral load curves were fitted, and the time required to reach the inflection point between plateau phase and logarithmic reduction phase was estimated. Variations in viral genomes were detected by metagenomic sequencing. Twenty eyes of 20 patients were included. The median (interquartile range) initial viral load was 5.9 × 10 7 (1.1 × 10 7 -1.1 × 10 8 ) copies/mL. The average duration of retinitis was 5 ± 3 weeks. The average time required to reach the inflection point was 4.2 ± 1.6 days. Time required to reach the inflection point was correlated with the duration of retinitis ( P = 0.025). Patients with varicella-zoster virus carrying the p.S715* variation in ribonucleotide reductase ( RNR ) subunit 1 gene had lower initial viral loads (median 1.3 × 10 7 copies/mL) than those without (median 1.1 × 10 8 copies/mL; adjusted P = 0.030). The inflection of viral load curve is helpful to estimate the length of plateau phase and the duration of retinitis during antiviral treatment in patients with acute retinal necrosis. Loss-of-function variation in RNR gene might be correlated with lower virulence of varicella-zoster virus.

Полиморфизм гена GDF5 крупного рогатого скота калмыцкой породы и его влияние на экстерьерные показатели

Purpose. Study of the influence of polymorphism of GDF5 gene of Kalmyk cattle on exterior characteristics. Materials and Methods. The polymorphism of the GDF5 gene was examined in 60 individuals of Kalmyk cattle breed belonging to the APC “Plodovitoe” of the Maloderbetovsky district of the Republic of Kalmykia. DNA samples were isolated from whole blood collected from the jugular vein using an automated extraction method. Real-time polymerase chain reaction was performed to determine the T586C polymorphism of the GDF5 gene. Results. Among the studied herd of cattle, individuals with the TT genotype predominated - they accounted for 68.3% of the total. Animals with TC and CC genotypes accounted for 21.7 and 10.0%, respectively. The frequency of occurrence of the T allele of GDF5 gene was 0.792, which exceeded the frequency of the C allele (0.208) by 58.2%. The observed frequency of the TT and CC genotypes exceeded the expected ones by 5.6 and 5.7%, respectively. At the same time, the frequency of the TC genotype was lower than expected by 11.2%. Individuals with the TT genotype of the GDF5 gene were superior to their peers with the TC and CC genotypes in all measured parameters. Conclusion. TT genotype of GDF5 gene in the studied livestock of Kalmyk cattle breed, owned by the APC “Plodovitoye”, occurs with the highest frequency (0.683). A positive effect of the TT genotype of GDF5 gene on linear physique measurements of Kalmyk cattle was revealed.