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To explore whether rs2073244 at PAX9 increased susceptibility for full-term low birth weight infants and whether indoors passive smoking exposure has a combined effect with rs2073244 on newborn low birth weight (LBW), a 1:2 paired case–control study of LBW newborns was conducted at Xiamen University Affiliated Women and Children’s Hospital from March 2010 to October 2013. The rate of indoor passive smoking exposure in the LBW group was higher than it in the NBW group (p = 0.019). GG of PAX9 rs2073244 decreased the risk of LBW [OR = 0.38, 95% CI: (0.15-0.98)] and smaller HC [OR = 0.44, 95% CI:(0.20-0.98)]. The relative excess risk for LBW contributed by the additive interaction between the rs2073244 risk genotypes AG/AA and mother pregnancy passive smoking exposure was 10.679 (95%CI 1.728–65.975). Our study suggested that the AG/AA genotype of PAX9 rs2073244 might be a risk factor for LBW of full-term newborns, especially in maternal passive smoking. [ABSTRACT FROM AUTHOR]

Pseudoperonospora cubensis, causal agent of cucurbit downy mildew, is a common and highly variable pathogen of cucurbit vegetables. Pathogen virulence can be considered on two different levels, that is, pathotypes and races. Pathotypes characterize the interactions between pathogen isolates and the set of genotypes represented by different species and/or genera of the host plant family. Races are characterized by the interactions between pathogen isolates and the set of genotypes (e.g., cultivars, lines, accessions) of one host species (or very closely related species). Differential sets for pathotype and/or race determination are composed of distinct (different) genotypes. Until recently, only differentiation of pathotypes was used to characterize P. cubensis. Most recent research of virulence variation in P. cubensis populations in the Czech Republic working with the Cucumis melo differential set demonstrated the existence of a large number of races of this pathogen. The differential capacity of this set was primarily created for the determination and denomination of virulence phenotypes/races of cucurbit powdery mildew (Golovinomyces orontii, Podosphaera xanthii). However, this set is also efficient for differentiating virulence phenotypes in P. cubensis. This means that one set of C. melo differential genotypes can be used for two independent plant–pathogen systems: cucurbit powdery mildew and cucurbit downy mildew. Results showed that isolates of P. cubensis developing identical virulence reaction patterns at the level of pathotype, develop different reaction patterns at the level of races and vice versa. It is demonstrated and explained that pathotypes and races are two different categories for the assessment of virulence variation, which should be clearly defined, recognized and used within international scientific and breeding communities. [ABSTRACT FROM AUTHOR]

Soybean (Glycine max) is a highly self‐pollinated species, but cross‐pollination occasionally occurs and variations within cultivars can be observed under certain conditions. To explore the potential uses of natural hybridization and intra‐cultivar/advanced line variations, 78 of breeding lines derived from the segregants of natural hybridization and the intra‐cultivar/line variations and their 17 source cultivars/lines were evaluated over four crop seasons for yield, seed weight, and other agronomic traits. All the lines were also genotyped using BARCSoySNP6K assays to compare the genetic similarities between the new lines and the source genotypes. Analysis of variance results indicated that genotypic differences, year effects, and genotype × year interactions were significant for all the traits. The broad‐sense heritability of the traits was estimated to be 67.22%–98.80%, suggesting that the traits were mainly affected by genetic factors. Compared with the source materials, yield of 34 breeding lines exceeded by >5%, and 17 of them had yield increases of 11.85%–41.59%. Seed weight increased significantly in 24 lines, and 11 lines showed improvements in both seed weight and yield, although there was a negative correlation between these two traits. In addition, 36 and 29 lines showed a shortened period of flowering and maturity, respectively. Plant height of 20 lines decreased by >8.5 cm. Genotypic matching rate between the new lines and the source materials varied from 48.86% to 99.90%. These results demonstrated that both segregations resulting from natural crossing and intra‐cultivar/line variations could be used to improve important traits in soybean. [ABSTRACT FROM AUTHOR]

Introduction: Gluten quality is one of the most important traits of the common wheat (Triticum aestivum L.). In Chinese wheat production, Yannong series cultivars/derivative lines possess unique characteristics and play an important role in both yield and quality contribution. Methods: To dissect their genetic basis of the gluten quality, in this study, allelic variations of high-molecular-weight glutenin subunit (HMW-GS) and lowmolecular- weight glutenin subunit (LMW-GS) in 30 Yannong series wheat cultivars/derivative lines and three check cultivars were evaluated using the allele-specific molecular markers, and six crucial quality indexes were also further measured and analyzed. Results: The results demonstrated that the frequencies of HMW-GSs By8, Dx5 + Dy10 and Dx5 + Dy10 + Dy12 in these 30 genotypes and three check cultivars accounted for 87.9%, 24.2% and 9.1%, respectively. For the allelic variations of LMW-GSs, Glu-A3a, Glu-A3b, Glu-A3c, Glu-A3f, and Glu-A3g were identified in 18, 9, 13, 11, and 2 genotypes, respectively; Glu-B3d, Glu-B3g and Glu-B3f were identified in 13, 23 and 4 genotypes, respectively. Notably, Yannong 999, containing By8 + Dx5 + Dy10, and Jinan 17 containing By8 + Dy12 both meet the national standard for high-quality wheat and belong to the category of first-class high-quality strong gluten wheat. Discussion: These findings can provide reference for wheat quality improvement and popularization in the production. [ABSTRACT FROM AUTHOR]

Background: The objective of this study was to introduce a genome-wide association study (GWAS) in conjunction with segregation analysis on monogenic categorical traits. Genotype probabilities calculated from phenotypes, mode of inheritance and pedigree information, are expressed as the expected allele count (EAC) (range 0 to 2), and are inherited additively, by definition, unlike the original phenotypes, which are non-additive and could be of incomplete penetrance. The EAC are regressed on the single nucleotide polymorphism (SNP) genotypes, similar to an additive GWAS. In this study, horn phenotypes in Merino sheep are used to illustrate the advantages of using the segregation GWAS, a trait believed to be monogenic, affected by dominance, sex-dependent expression and likely affected by incomplete penetrance. We also used simulation to investigate whether incomplete penetrance can cause prediction errors in Merino sheep for horn status. Results: Estimated penetrance values differed between the sexes, where males showed almost complete penetrance, especially for horned and polled phenotypes, while females had low penetrance values for the horned status. This suggests that females homozygous for the 'horned allele' have a horned phenotype in only 22% of the cases while 78% will be knobbed or have scurs. The GWAS using EAC on 4001 animals and 510,174 SNP genotypes from the Illumina Ovine high-density (600k) chip gave a stronger association compared to using actual phenotypes. The correlation between the EAC and the allele count of the SNP with the highest –log10(p-value) was 0.73 in males and 0.67 in females. Simulations using penetrance values found by the segregation analyses resulted in higher correlations between the EAC and the causative mutation (0.95 for males and 0.89 for females, respectively), suggesting that the most predictive SNP is not in full LD with the causative mutation. Conclusions: Our results show clear differences in penetrance values between males and female Merino sheep for horn status. Segregation analysis for a trait with mutually exclusive phenotypes, non-additive inheritance, and/or incomplete penetrance can lead to considerably more power in a GWAS because the linearized genotype probabilities are additive and can accommodate incomplete penetrance. This method can be extended to any monogenic controlled categorical trait of which the phenotypes are mutually exclusive. [ABSTRACT FROM AUTHOR]

Streptococcus pyogenes (streptocoque bêta-hémolytique du groupe A, SGA) est un pathogène strictement humain, de répartition mondiale. Le SGA est responsable d'un large éventail de manifestations cliniques allant des infections non invasives, les plus nombreuses, aux infections invasives, plus rares mais pouvant être fatales, tels la fasciite nécrosante et le syndrome de choc toxique streptococcique (SCTS). Dans la population pédiatrique, les infections à SGA se manifestent principalement par des angines. Les infections invasives, moins fréquentes que chez l'adulte, surviennent fréquemment sous la forme d'érysipèles, de pleuro-pneumopathies pouvant compliquer des infections virales respiratoires et d'ostéomyélites ou ostéoarthrites. Une recrudescence des infections à SGA a été décrite depuis les années 1980, survenant sous forme de bouffées épidémiques, la dernière datant de l'automne 2022, à la faveur de différents clones. La diversité des manifestations cliniques est associée à de nombreux facteurs de virulence parmi lesquels la protéine M, les streptolysines et les toxines superantigéniques. La protéine M, codée par le gène emm , est immunogène et présente une grande diversité antigénique. Parmi les plus de 200 génotypes emm décrits, les génotypes emm1 et emm3 sont plus fréquemment associés aux formes les plus sévères. En outre, le SGA possède jusqu'à 11 gènes distincts codant des toxines superantigéniques pouvant être responsables d'une stimulation immunitaire massive conduisant au SCTS. Le SGA est constamment sensible aux bêta-lactamines, considérées comme le traitement de choix des infections à SGA. La surveillance continue des infections à SGA reste essentielle afin d'ajuster les mesures thérapeutiques et prophylactiques et d'évaluer l'impact potentiel des futurs vaccins. Streptococcus pyogenes (or group A Streptococcus , GAS) is a human-specific pathogen, with a worldwide distribution, responsible for a wide range of diseases, ranging from superficial to life-threatening invasive infections, including necrotizing fasciitis and streptococcal toxic shock syndrome (STSS). In the paediatric population, GAS infections mainly occur as pharyngitis whereas invasive infections are less frequent than in adults and frequently manifesting as erysipelas, pleural and pulmonary infections that may complicate respiratory viral infections, and osteomyelitis or osteoarthritis. A resurgence of GAS infections has been described since the 1980s, emerging as outbreaks, most recently in autumn 2022, as a result of different clones. The diversity of clinical manifestations is associated with numerous virulence factors, including the M protein, streptolysins and superantigenic toxins. The M protein, encoded by the emm gene, is immunogenic and has a wide antigenic diversity. Among the over 200 emm genotypes described, emm1 and emm3 are more frequently associated with the most severe cases. GAS encodes up to 11 distinct genes encoding superantigenic toxins that may be responsible for massive immune stimulation leading to STSS. GAS is always susceptible to beta-lactam antibiotics, considered to be the gold standard to treat GAS infections. Ongoing monitoring of GAS infections remains essential in order to adjust therapeutic and prophylactic measures and to assess the potential impact of future vaccines. [ABSTRACT FROM AUTHOR]

Objective: Maturity onset diabetes of the young (MODY) occurs due to mutations in genes involved in pancreatic beta cell function and insulin secretion, has heterogeneous clinical and laboratory features, and account for 1-5% of all diabetes cases. The prevalence and distribution of MODY subtypes vary between countries. The aim of this study was to evaluate the clinical and laboratory characteristics, mutation distribution, and phenotype-genotype relationship in a large case series of pediatric Turkish patients genetically diagnosed with MODY. Methods: MODY cases from 14 different pediatric endocrinology departments were included. Diagnosis, treatment, follow-up data, and results of genetic analysis were evaluated. Results: A total of 224 patients were included, of whom 101 (45%) were female, and the mean age at diagnosis was 9.4±4.1 years. Gene variant distribution was: 146 (65%) GCK; 43 (19%) HNF1A; 8 (3.6%) HNF4A, 8 (3.6%) KLF11 and 7 (3.1%) HNF1B. The remaining 12 variants were: PDX (n=1), NEUROD1 (n=3), CEL (n=1), INS (n=3), ABCC8 (n= 3) and KJNC11 (n=1). Of the cases, 197 (87.9%) were diagnosed with incidental hyperglycemia, 16 with ketosis (7%) and 7 (3%) with diabetic ketoacidosis (DKA), while 30% presented with classical symptoms of diabetes. Two-hundred (89%) had a family history of diabetes. Anti-GAD antibody was detected in 13 cases, anti-islet antibody in eight and anti-insulin antibody in four. Obesity was present in 16. Distribution of therapy was: 158 (71%) diet only; 23 (11%) intensive insulin treatment; 17 (7.6%) sulfonylureas; 10 (4.5%) metformin; and 6 (2.7%) insulin and oral anti-diabetic treatment. Conclusion: This was the largest genetically diagnosed series from Turkey. The most common gene variants were GCK and HNF1A with much lower proportions for other MODY types. Hyperglycemia was the most common presenting symptom while 11% of patients had diabetes-associated autoantibodies and 7% were obese. The majority of patients received dietary management only. [ABSTRACT FROM AUTHOR]

Objective: In the hypothalamic-pituitary-gonadotrophin axis, estrogen plays a key role in the regulation of bone maturation and growth plate closure. This study was designed to explore the link between single nucleotide polymorphisms (SNPs) in the estrogen receptor 1 (ESR1) gene with idiopathic short stature (ISS) susceptibility in a North Indian population. Methods: Four SNPs of ESR1 (rs543650, rs6557177, rs2234693 and rs9340799) were genotyped by Sanger sequencing in ISS patients and controls. Linkage disequilibrium (LD) and haplotyping were done by SNPStat and SHEsisPlus software. The extent of LD was determined by calculating D' and R2 values in SNP paired combinations. Results: Fifty-two ISS patients were compared with 68 controls. A significant positive association was found between rs6557177 and rs543650 genotype and ISS susceptibility. The frequencies of the rs6557177 CC genotype [p=0.030; odds ratio (OR)=0.13; 95% confidence interval (CI): 0.01-1.10] and rs543650 genotype TT (p=0.043; OR=0.29; 95% CI: 0.09-0.92) were increased in the ISS group compared with controls. However, no significant correlation was observed between clinical parameters of patients and these SNPs. rs543650 showed strong LD with rs2234693 and rs9340799, similarly rs2234693 and rs9340799. Conclusion: Our study showed that the CC genotype at rs6557177 and TT genotype at rs543650 of ESR1 constituted a risk factor for developing ISS in North Indian children. These findings may lead to a better understanding of the SNPs associated with ISS susceptibility. [ABSTRACT FROM AUTHOR]

Background Given that obesity and insulin resistance play key roles in the pathogenesis of nonalcoholic fatty liver disease (NAFLD) and the connection between leptin and these metabolic diseases, the association between NAFLD and a leptin receptor gene (LEPR) polymorphism was examined. Methods In this genetic case-control association study, 144 biopsy-proven NAFLD patients and 144 controls were genotyped for the LEPR gene Gln223Arg (rs1137101) polymorphism using the polymerase chain reaction–restriction fragment length polymorphism method. Results The distributions of genotypes and alleles of Gln223Arg variant were in accordance with the Hardy-Weinberg equilibrium in the study groups (P >.05). Multivariate logistic regression analysis showed that the LEPR Gln223Arg Arg/Arg genotype was an independent risk factor for NAFLD; the Arg/Arg genotype, compared with the Gln/Gln genotype, was associated with a 2.09-fold increased risk for NAFLD (P =.036, odds ratio = 2.09 [95% CI = 1.31-5.95]). Conclusions We found that the LEPR Gln223Arg Arg/Arg genotype was independently associated with a more than 2-fold rise in biopsy-proven NAFLD risk. Our findings, however, need to be corroborated by further studies. [ABSTRACT FROM AUTHOR]

Objective Idiopathic inflammatory myopathies (IIM) are a heterogeneous and life-threatening group of diseases; in particular, anti-melanoma differentiation-associated gene 5 antibody positive DM (MDA5+ DM) is reportedly strongly associated with high mortality rate. Tacrolimus (TAC) provides an excellent therapeutic option, but the trough concentration (Cmin)–outcome relationship remains unexplored. This study was undertaken to identify optimal Cmin and individualized dose based on CYP3A5 genotype for IIM patients. Methods A total of 134 IIM patients with 467 Cmin were enrolled. We examined the relationship between TAC Cmin and relapses. The receiver operating characteristic analysis was used to confirm the optimal Cmin. Analyses of factors influencing Cmin were conducted. The dose requirement based on CYP3A5 genotype was confirmed. Results TAC Cmin is strongly associated with relapses. The optimal cutoff values were 5.30, 5.85, 4.85 and 5.35 ng/ml for acute, subacute, chronic and all-phase IIM patients (P   =  0.001, 0.013, 0.002 and <0.001, respectively), as well as 5.35, 5.85, 5.55 and 5.85 ng/ml for acute, subacute, chronic and all-phase MDA5+ DM patients (P   =  0.007, 0.001, 0.036 and <0.001, respectively). CYP3A5 genotype was one of the significant factors influencing TAC Cmin. CYP3A5 expressers required 0.059 mg/kg/day to attain the target Cmin, while nonexpressers required 0.046 mg/kg/day (P   =  0.019). Conclusion TAC treatment may elicit favorable outcome in patients with IIM and MDA5+ DM when Cmin exceeded 5.35 and 5.85 ng/ml, which is crucial to a lower relapse rate. The individualized dose based on the CYP3A5 genotype provides a reference for TAC personalized therapy in IIM. [ABSTRACT FROM AUTHOR]

Introduction: Genetic factors play an important role in the etiopathogenesis of autism spectrum disorder (ASD). The Pogo Transposable Element with ZNF Domain protein (POGZ) gene (MIM*614787) has been reported to be one of the most frequently mutated genes associated with ASD. This study aims to analyze the exonic regions of the POGZ gene in individuals diagnosed with non-syndromic ASD. Methods: Fifty-one non-syndromic cases diagnosed with ASD according to the DSM-V diagnostic criteria, aged 2-18 years, were included in the study. The healthy control group consisted of 50 children of similar age groups without neurodevelopmental problems. Amplicons produced using deep intronic primers covering the mRNA-encoded regions of the POGZ gene from at least 50 base pairs were sequenced by Next Generation Sequencing Analysis. Results: No pathogenic or likely pathogenic variants reported in open-access databases (ClinVar, HGMD, etc.) were detected in the case group. In the ASD and healthy control groups, rs113396244, rs11204811, rs779479223, rs772352054, rs3831142, rs112072925, rs227453 and rs142860188 variants were determined. The rs3831142, rs112072925, rs2274535, rs142860188 variants were found statistically significant in the ASD group. The distribution of the cases with detected single nucleotide polymorphisms (SNPs) according to gender was not statistically significant. Conclusion: The variants identified as statistically significant within the patient group are situated in regions that encompass both the HP1-ZNF and DDE domains of the protein. Given the crucial role that the DDE domain plays, particularly in fetal brain development and neurogenesis, these four variants may potentially possess modifying and/or predisposing effects in the context of ASD. [ABSTRACT FROM AUTHOR]

Systemic lupus erythematosus (SLE) is a common autoimmune disease marked by the formation of apoptotic debris and the presence of autoantibodies that target nuclear components. At this moment, the actual cause of SLE is uncertain. Genetic variables have been well proven to have a significant role in the propensity of SLE. This study aimed to investigate the effect of (ZNF76) rs (10947540) and (SCUBE) rs (1888822) gene polymorphism in patients with systemic lupus erythematosus. A case control study has been carried out at Medical Biochemistry & Molecular biology and Rheumatology unit of Internal Medicine Departments, Faculty of Medicine, Menoufia University, Egypt, for 1-year duration between 1 June 2022 and 1 June 2023. Sixty patients were females (75%) and twenty patients were males (25%). Their ages ranged from 19 to 53 years. Their disease durations ranged from 7 months to 20 years. The findings indicated that the TC genotype of the ZNF76 rs10947540 gene increases the risk of SLE by 2.274-fold, while the dominant TC + CC increases the risk by 2.472-fold, and the C allele increases the risk by 2.115-fold. Additionally, the results showed that the TT genotype of the SCUBE3 rs1888822 gene increases the risk of SLE by 3.702-fold, the dominant GT + TT increases the risk by 2.304-fold, and the T allele increases the risk by 2.089-fold, while the GT genotype increases the risk by 1.918-fold. The study revealed significant associations between the genotypes of these polymorphisms and certain clinical parameters in SLE patients. These findings highlight the potential genetic contributions to SLE susceptibility and its clinical manifestations, providing valuable insights for future research and potential personalized approaches to the management of this complex autoimmune disease. [ABSTRACT FROM AUTHOR]

Purpose: Enteroviruses (EV) comprises many different types and are the most common cause of aseptic meningitis. How the virus affects the brain including potential differences between types are largely unknown. Measuring biomarkers in CSF is a tool to estimate brain damage caused by CNS infections. Methods: A retrospective study was performed in samples from 38 patients with acute neurological manifestations and positive CSF-EV RNA (n = 37) or serum-IgM (n = 1). The EV in 17 samples were typed by sequencing. The biomarkers neurofilament light (NFL), glial fibrillary acidic protein (GFAP), S-100B protein, amyloid-β (Aβ) 40 and Aβ42, total-tau (T-tau) and phosphorylated tau (P-tau) were measured and compared with data derived from a control group (n = 19). Results: There were no increased levels of GFAP (p ≤ 0.1) nor NFL (p ≤ 0.1) in the CSF of patients with EV meningitis (n = 38) compared with controls. However, we found decreased levels of Aβ42 (p < 0.001), Aβ40 (p < 0.001), T-tau (p ≥ 0.01), P-tau (p ≤ 0.001) and S-100B (p ≤ 0.001). E30 (n = 9) and CVB5 (n = 6) were the most frequent EV-types identified, but no differences in biomarker levels or other clinical parameters were found between the infecting virus type. Seven patients who were followed for longer than one month reported remaining cognitive impairment, although no correlations with biomarker concentrations were observed. Conclusion: There are no indication of neuronal or astrocyte damage in patients with EV meningitis. Yet, decreased concentrations of Aβ40, Aβ42, P-tau and T-tau were shown, a finding of unknown importance. Cognitive impairment after acute disease occurs, but with only a limited number of patients analysed, no conclusion can be drawn concerning any association with biomarker levels or EV types. [ABSTRACT FROM AUTHOR]

Genetic maps are fundamental resources for linkage and association studies. A fine‐scale genetic map can be constructed by inferring historical recombination events from the genome‐wide structure of linkage disequilibrium—a non‐random association of alleles among loci—by using population‐scale sequencing data. We constructed a fine‐scale genetic map and identified recombination hotspots from 10 092 551 bi‐allelic high‐quality autosomal markers segregating among 150 unrelated Japanese individuals whose genotypes were determined by high‐coverage (30×) whole‐genome sequencing, and the genotype quality was carefully controlled by using their parents' and offspring's genotypes. The pedigree information was also utilized for haplotype phasing. The resulting genome‐wide recombination rate profiles were concordant with those of the worldwide population on a broad scale, and the resolution was much improved. We identified 9487 recombination hotspots and confirmed the enrichment of previously known motifs in the hotspots. Moreover, we demonstrated that the Japanese genetic map improved the haplotype phasing and genotype imputation accuracy for the Japanese population. The construction of a population‐specific genetic map will help make genetics research more accurate. [ABSTRACT FROM AUTHOR]

Background: Sibling bullying is associated with mental health difficulties; both in the short and long term. It is commonly assumed that sibling bullying leads to mental health difficulties but additional explanations for the relationship between the two are seldom investigated. Methods: To address this gap in knowledge, we used a genetically sensitive design with data from the Avon Longitudinal Study of Parents and Children (maximum N = 3,959, 53% female). At ages 11–13 years, individuals self‐reported their involvement in sibling bullying, as a victim and perpetrator, and parents reported on their child's mental health difficulties. Polygenic scores, indices of genetic risk for psychiatric disorders (major depressive disorder and attention deficit hyperactivity disorder) were computed using children's genetic data. Regression and structural equation models were fitted to the data. Results: Sibling bullying, victimisation and perpetration, and polygenic scores both predicted mental health difficulties in an additive manner but there was no interaction between them. Polygenic scores for mental health difficulties were also associated with sibling bullying. Conclusions: These findings suggest that sibling bullying, victimisation and perpetration, is associated with mental health difficulties, even after accounting for some genetic effects. Additionally, the relationship between sibling bullying and mental health difficulties may be, at least partly, due to shared genetic aetiology. One possibility is that genetic risk for mental health difficulties influences the onset of mental health difficulties which in turn make children more susceptible to sibling bullying. [ABSTRACT FROM AUTHOR]

• Late sown chickpea faces heat stress that drastically reduces grain yield in the NE plains of India. • Chickpea genotypes respond differently to late sown associated heat stress. • 'Pusa 3043′ and 'DBGC 4′ showed least yield reductions under late sown condition. • Both the genotypes mitigated heat stress by accumulating more ascorbic acid than the sensitive ones. Post rice cultivation, chickpea (Cicer arietinum L.) sowing is very often delayed due to late harvesting of preceding rice crop in the north-east plains of India. This exposes the late sown chickpea to heat stress, which substantially reduces the chickpea yield. The present study aimed to understand the most important physiological basis for genotypic response to yield differences in chickpea. Two trials, each one comprising five released cultivars and five advance breeding lines of chickpea, were conducted under timely sown and late sown conditions consecutively for two years (2018–19 & 2019–20). Three genotypes 'DBGC 1′, 'DBGC 3′ and 'Pusa 547′ were identified as high yielders under timely sown condition, whereas two other genotypes 'Pusa 3043′ and 'DBGC 4′ excelled all others, and showed least yield reductions under late sown condition. Yield under late sown condition showed significant negative and positive correlations respectively with days to flowering (50 %), maturity duration and 100 seed weight, and per day yield, yield/plant, harvest index and pods/plant. Among physiological characters, carotenoids and ascorbic acid content had very strong and positive associations with yield under late sown condition. Path coefficient analysis differentiated ascorbic acid further from other physiological attributes as it showed high and direct positive effect on yield. Significantly enhanced accumulation of ascorbic acid precisely explained better yield performance of chickpea genotypes 'Pusa 3043′ and 'DBGC 4′ under late sown condition. [ABSTRACT FROM AUTHOR]

BackgroundObjectiveMethodResultsConclusionNigeria remains one of the countries with a high hepatitis B virus (HBV) burden in Africa. Reports have indicated the presence of mixed HBV genotypes in Nigeria; however, there is still paucity of data regarding mixed genotype infections particularly in the Southern part of the country.Our aim is to determine the HBV genotype distribution among HBsAg-positive gastroenterology patients at the University College Hospital Ibadan, Nigeria.Serum samples were screened for HBsAg by ELISA, and positive samples were genotyped by semi-nested multiplex PCR for HBV genotypes A, B, C, D, E and F.Data generated were analyzed in R-studio. A total of 81/90 (90%) of HBsAg-positive samples were successfully genotyped, and genotype A was most prevalent with 15.7%, while genotypes B and E were the least with 1.2% each. Genotypes A/C infection was the highest among mixed infections with 40% prevalence, while genotypes A/D were the least prevalent mixed infection with 4.8%.We advocate for a comprehensive genotype analysis in larger cohorts across Nigeria, to give a more comprehensive understanding of the distribution and prevalence of different HBV genotypes population wide. [ABSTRACT FROM AUTHOR]

Background: Febrile urinary tract infections (UTIs) are among the most severe bacterial infections in infants, in which a subset of patients develops complications. Identifying infants at risk of recurrent infections or kidney damage based on clinical signs is challenging. Previous observations suggest that genetic factors influence UTI outcomes and could serve as predictors of disease severity. In this study, we conducted a nationwide survey of infant genotypes to develop a strategy for infection management based on individual genetic risk. Our aims were to identify genetic susceptibility variants for renal scarring (RS) and genetic host factors predisposing to dilating vesicoureteral reflux (VUR) and recurrent UTIs. Methods: To assess genetic susceptibility, we collected and analyzed DNA from blood using exome genotyping. Disease-associated genetic variants were identified through bioinformatics analysis, including allelic frequency tests and odds ratio calculations. Kidney involvement was defined using dimercaptosuccinic acid (DMSA) scintigraphy. Results: In this investigation, a cohort comprising 1087 infants presenting with their first episode of febrile UTI was included. Among this cohort, a subset of 137 infants who underwent DMSA scanning was subjected to gene association analysis. Remarkable genetic distinctions were observed between patients with RS and those exhibiting resolved kidney involvement. Notably, the genetic signature indicative of renal scarring prominently featured mitochondrial genes. Conclusions: In this nationwide study of genetic susceptibility to RS after febrile UTIs in infancy, we identified a profile dominated by mitochondrial polymorphisms. This profile can serve as a predictor of future complications, including RS and recurrent UTIs. [ABSTRACT FROM AUTHOR]

Background: Congenital anomalies of the kidney and urinary tract (CAKUT) represent a frequent cause of pediatric kidney failure. CNVs, as a major class of genomic variations, can also affect miRNA regions. Common CNV corresponding miRNAs (cCNV-miRNAs) are functional variants regulating crucial processes which could affect urinary system development. Thus, we hypothesize that cCNV-miRNAs are associated with CAKUT occurrence and its expressivity. Methods: The extraction and filtering of common CNVs, identified in control samples deposited in publicly available databases gnomAD v2.1 and dbVar, were coupled with mapping of miRNA sequences using UCSC Genome Browser. After verification of the mapped miRNAs using referent miRBase V22.1, prioritization of cCNV-miRNA candidates has been performed using bioinformatic annotation and literature research. Genotyping of miRNA gene copy numbers for MIR9-3, MIR511, and MIR1299, was conducted on 221 CAKUT patients and 192 controls using TaqMan™ technology. Results: We observed significantly different MIR9-3 and MIR1299 gene copy number distribution between CAKUT patients and controls (Chi-square, P = 0.006 and P = 0.0002, respectively), while difference of MIR511 copy number distribution showed nominal significance (Chi-square, P = 0.027). The counts of less and more than two of MIR1299 copy numbers were more frequent within CAKUT patients compared to controls (P = 0.01 and P = 0.008, respectively) and also in cohort of patients with anomalies of the urinary tract compared to controls (P = 0.016 and P = 0.003, respectively). Conclusions: Copy number variations of miRNA genes represent a novel avenue in clarification of the inheritance complexity in CAKUT and provide potential evidence about the association of common genetic variation with CAKUT phenotypes. [ABSTRACT FROM AUTHOR]

Historically, specific mutations in WT1 gene have been associated with distinct syndromes based on phenotypic characteristics, including Denys-Drash syndrome (DDS), Frasier syndrome (FS), Meacham syndrome, and WAGR syndrome. DDS is classically defined by the triad of steroid-resistant nephrotic syndrome (SRNS) onset in the first year of life, disorders of sex development (DSD), and a predisposition to Wilms tumor (WT). Currently, a paradigm shift acknowledges a diverse spectrum of presentations beyond traditional syndromic definitions. Consequently, the concept of WT1-related disorders becomes more precise. A genotype–phenotype correlation has been established, emphasizing that the location and type of WT1 mutations significantly influence the clinical presentation, the condition severity, and the chronology of patient manifestations. Individuals presenting with persistent proteinuria, with or without nephrotic syndrome, and varying degrees of kidney dysfunction accompanied by genital malformations should prompt suspicion of WT1 mutations. Recent genetic advances enable a more accurate estimation of malignancy risk in these patients, facilitating a conservative nephron-sparing surgery (NSS) approach in select cases, with a focus on preserving residual kidney function and delaying nephrectomies. Other key management strategies include kidney transplantation and addressing DSD and gonadoblastoma. In summary, recent genetic insights underscore the imperative to implement individualized, integrated, and multidisciplinary management strategies for WT1-related disorders. This approach is pivotal in optimizing patient outcomes and addressing the complexities associated with these diverse clinical manifestations. [ABSTRACT FROM AUTHOR]

Anthracnose caused by Colletotrichum spp. is a serious threat to many crops, and C. siamense has become increasingly prevalent worldwide. However, the mycelial growth and virulence of many of these species, especially below 26 °C, has largely remained unknown. Here, mycelial growth of five representative Colletotrichum strains (three C. siamense [Cs], one C. fructicola [Cf] and one C. gloeosporioides s.s. [Cg]) from diseased strawberry was measured at 10, 14, 18, 22 and 26 °C. Their virulence on Fragaria vesca and highly susceptible F. × ananassa cv. Benihoppe was tested at 14 °C and 22 °C. The strains did not differ much in mycelial growth between 10 and 26 °C, although growth of the Cs and Cg strains was somewhat faster than that of Cf. However, the strains varied greatly in their virulence on the two hosts. Strain Cs GQHZJ19, which grew fastest at 22 °C, was also the most virulent on both hosts at 14 °C and 22 °C. But growth rate of Cs was only positively correlated with virulence on susceptible cv. Benihoppe after 3 days at 22 °C. Based on the virulence analysis of the five Colletotrichum strains on hosts that vary in susceptibility at distinct temperatures, host genotype might play a decisive role in disease severity at an early stage, while temperature might influence the host–Colletotrichum spp. interaction at a later stage. More Colletotrichum strains (especially C. siamense) need to be tested to determine the mycelial growth and virulence in a wider temperature range and thus we can effectively manage disease. [ABSTRACT FROM AUTHOR]

Finding methods, which may alleviate drought stress on the growth and biochemical properties of safflower (Carthamus tinctorius L.), as one of the important medicinal plants, is of significance. The objective was to alleviate drought stress on seed germination, seedling growth, and biochemical properties of different genotypes of safflower using 24-epibrassinosteroid (EBR). The experiments, conducted in the greenhouse in 2014 and 2015, were factorial on the basis of a complete randomized block design with three replicates. Drought stress (85 (S1), 65 (S2) and 45% (S3) of field capacity), genotype (Goldasht, Faraman and Sina), and the foliar application of 24-epibrassinosteroid (EBR) (0 and 10−7 M) were tested. Seed germination indices, seedling growth and biochemical properties were determined. The results indicated the significant effects of drought stress on the measured parameters including seed germination, which was the most sensitive stage. The use of EBR significantly increased seed germination and seedling growth, nutrient uptake and grain protein and oil contents, at different levels of stress. EBR significantly enhanced grain N (7.3%) and P (0.5%) uptake, as well as protein percentage (38.7%), even at the highest level of stress (S3), to the levels which were comparable with S1 and S2. The use of EBR may improve seed germination and the growth of safflower seedlings under drought stress conditions by affecting the physiological properties, mainly related to the mechanisms of protein production. [ABSTRACT FROM AUTHOR]

The population growth and the regular breakout of Nilaparvata lugens pose a significant risk to rice cultivation. Four different N. lugens biotypes have been identified worldwide, with biotype 4 being the most destructive and prevalent throughout Asia, particularly in India. Therefore, a rice variety with multiple resistance genes/alleles is required for effective management of N. lugens. Hence, 191 rice genotypes collected from various parts of India were evaluated for resistance to N. lugens. Further, SSR markers representing 23 different N. lugens resistant (R) genes were assayed to identify genomic regions associated with resistance. The results of the genetic analysis showed that the average genetic diversity value of all markers was 0.165 and polymorphic information content of 0.145 for all the markers used. The population structure and cluster analysis divided the studied genotypes into three distinct groups, with resistant genotypes grouped separately. These findings were confirmed by the principal coordinate analysis, which categorized resistant genotypes, moderately resistant genotypes, and susceptible genotypes into distinct components. Additionally, 90% of the genetic variation was between individuals of populations and 10% between the populations. Marker‐trait association study through mixed linear model and generalized linear model identified six SSR markers such as RM6732 (Bph15), RM314 (Bph6), RM16999 (Bph6), RM7 (QBph3), RM401 (bph4), and RM7102 (Bph1), which were significantly associated with various phenotypic parameters, such as feeding mark, honeydew excretion, percent damage and nymphal survival. The resistant genes identified in these genotypes could help in the marker‐assisted rice variety development with durable resistance against N. lugens. [ABSTRACT FROM AUTHOR]

Water deficit stress is one of the key determinants causing crop yield losses globally. The present study was conducted to effectively screen Desi chickpea genotypes based on early dehydration tolerance-related traits as a tool for further evaluation in field experiments. Sixty-four genotypes of Desi chickpea were assessed under progressive water deficit stress, resulting in high variability in early growth characteristics and traits. The clustering analysis with UPGMA, separated the genotypes into three major groups, in accordance with biplot analysis grouping. The highest root length density was observed in the MCC438 genotype with an 18.6-fold increase compared to MCC884 which showed the lowest root length density among all analyzed chickpea genotypes. The genotypes MCC32 and MCC539 produced the higher shoot and root dry weight, while MCC884 showed the lowest value (with 12- and 32.5-fold differences, respectively). Ten genotypes showed differences in terms of their overall response to the water deficiency stress, including eight tolerant genotypes (MCC320, MCC418, MCC425, MCC438, MCC539, MCC540, MCC560, MCC576) and two susceptible ones (MCC433 and MCC897), were selected for further investigation of various growth and physio-biochemical traits based on drought response indices. A clear distinction was observed among ten analyzed genotypes for some physio-biochemical traits, indicating their tolerant responses to drought stress. Drought-tolerant candidate genotypes showed higher indices of seedling growth parameters, proline content, RWC, membrane stability, and root-to-shoot ratio in comparison to drought-susceptible candidate genotypes. The genotypes MCC425, MCC438, MCC418, and MCC539 were found more drought tolerant in the seedling stages, whereas genotype MCC433 was more sensitive. These results were consistent with what was obtained in our preliminary study. However, these results should be addressed further in the field conditions. [ABSTRACT FROM AUTHOR]

As the demand for edible oil continues to soar, rapeseed cultivation remains pivotal for sustainable and efficient oil production, catering to the nutritional needs of a burgeoning population. Given the substantial impact of environmental stress on plant productivity, this study aimed to explore the in vitro responses of calli-derived hypocotyls from five Brassica napus genotypes under varying concentrations of polyethylene glycol (PEG) 6000 (0%, 10%, 20%, 30%, and 40%). The objective was to assess various growth and physiological parameters, including Callus Growth Rate (CGR), Relative Water Content (RWC), Index of Tolerance (INTOL), Relative Growth Rate (RGR), and Proline Content (PC). Results unveiled a significant surge in proline content with increasing levels of PEG, with the highest accumulation observed at 40% PEG concentration. These findings suggest that heightened osmotic stress induced by PEG led to a notable rise in proline accumulation in calli-derived hypocotyls. Furthermore, elevated levels of PEG-induced osmotic stress adversely impacted growth parameters such as RWC, RGR, and CGR. Notably, genotypes Geronimo and Arc5 exhibited enhanced drought resistance in in vitro environments compared to other genotypes. These particular genotypes showcased greater resilience and adaptability to PEG-induced osmotic stress, as evidenced by significantly higher measurements of relative water content (RWC), relative growth rate (RGR), and Callus Growth Rate (CGR). Physiological indices like Relative Water Content (RWC), Relative Growth Rate (RGR), and Callus Growth Rate (CGR) offer valuable insights into a plant's response to environmental stresses like water scarcity. This selection process is crucial for developing more resistant plant varieties that thrive even in challenging environmental conditions. [ABSTRACT FROM AUTHOR]

Water stress is one of the most important limiting abiotic factors for crop plants. The drought resistance was investigated for 35 camelina doubled haploid lines along with a check cultivar (Sohail), under two irrigation conditions (supplementary irrigation and rainfed), during the crop year 2020-2021. The study was conducted in the randomized complete block design by three replications in three regions of Eslamabad-e Gharb, Mahidasht and Mehrgan. The indices of stress sensitivity (SSI), tolerance (Tol), drought resistance (DTI), mean productivity (MP), geometric mean productivity (GMP), harmonic mean (MH), yield stability (YSI) and drought resistance (DI) were calculated using seed yield in two environments of rainfed (Ys) and supplementary irrigation (Yp). There was a significant difference among regions for YS, Yp, MP, GMP, MH, and DTI indices. MP, GMP, MH, DTI and DI indices had significant correlations with two environments. According to MH, MP and GMP, the highest and the lowest drought resistance were observed in the Mehrgan region and Islamabad region, respectively. Mahidasht showed the highest value of drought resistance and Mehrgan showed the lowest value of drought resistance among the lines based on DTI. In addition, the results of the mean comparison, cluster analysis, principal components analysis and the three-dimensional scatter diagram of the lines based on the yield of two environments and the MP index showed that lines 1, 2, 3, 5, 6, 10, 7 and the check cultivar had more drought resistant. These lines had high seed yield in two contrast environments and showed more drought resistance, which is recommendable for breeding programs in the climatic conditions of Kermanshah province. [ABSTRACT FROM AUTHOR]

Stevia plant is one of the most important medicinal plants used to control diabetes due to its sweetening properties and low calories. Stevia is cultivated in many parts of the world, and to increase its sweetening properties, the effects of many different factors have been tested on this plant. In this research, we investigated the effect of elements related to metal oxidants on the induction of molecular levels and transcription. Thus, the activity of 3 key genes named CPPS, HDS, and GGDPS in response to six different metal oxidants named Cro3, Pbo, Fe2O3, Ag2O, Bao, and Tio2 was carried out in this research. The results showed that the increased concentration of metal oxides, especially Fe2O3 and TiO2, escalates gene expression in the biosynthesis of sweeteners extracted from stevia leaves. Also, related to all treatments, the higher the concentration, the higher the gene expression. Among all metal oxide treatments, Pbo and Bao resulted in low gene expression for CPPS, HDS, and GGDPS genes. On the other side, control showed the lowest expression regarding all three surveyed genes, indicating that using metal oxides can achieve higher production of sweeteners in stevia plants. The results of this research determined that physiological characteristics are affected by metal oxide treatments. Also, the expression of genes effective in the production of steviol glycosides, which is one of the important sweetening factors of this plant in the leaves, increases under the influence of these treatments. As a result, it can be said that the use of these treatments can have an increasing effect on the amount of sweetening of the plant. [ABSTRACT FROM AUTHOR]

The importance of monitoring and management of yellow rust, caused by Puccinia striiformis f. sp. tritici (Pst), has markedly increased in Russia over recent years because of intensifying negative effects of this destructive disease on wheat production. The Pst virulence survey was conducted in 2019–2021 in the European (North‐West, Volga, North Caucasus) and Asian (Siberia) parts of Russia, and the same 109 isolates have been genotyped here with 20 SSR markers. Fifty‐three multilocus genotypes (MLGs) were detected, seven of which occurred in two or more regions. The most frequent MLG was found in three European Pst collections (except Dagestan) and Siberia. SSR‐based variation within the regional collections was low because many MLGs were closely related. Nevertheless, each collection contained relatively different small genotype groups. No clear geographic structure of the Russian Pst population was observed because the five studied regional collections shared groups of similar genotypes. The most singular SSR genotype was identified in the North‐West collection, but genotypes of four invasive isolates belonging to the PstS2 temperature‐adapted aggressive strain did not considerably differ from others. The observed heterozygosity at all SSR loci exceeded the expected one in all regional Pst collections, which could imply asexual reproduction of the pathogen. Both the SSR and virulence analyses demonstrated similar patterns of relationships between the regional Pst collections, although the magnitude of differences between the collections was larger for virulence pathotypes. However, no significant association was established between the virulence pathotypes and SSR genotypes because multiple pathotypes had the same genotype and vice versa. [ABSTRACT FROM AUTHOR]

Salinity drastically hampers the germination and growth of legumes including mungbean which jeopardizes the food and nutritional security of the rising human population. An experiment entailing varying salinity levels (0, 50, and 150 Mm NaCl) was conducted to investigate the response of salinity on germination and seedling growth of four mungbean genotypes (BARI Mung-7, BARI Mung-8, BU Mug-2, and BU Mug-4). The germination indices such as percentage and rate of germination along with the coefficient of velocity (GP) of all mungbean genotypes were significantly reduced by the salt stress, especially of Binamoog-5 at 150 mM NaCl. Contrarily, BARI Mung-8 remained superior by recording better germination indices under all salinity levels. The same cultivar outperformed the rest of the cultivars based on the greatest weights (fresh and dry) and length of roots and shoots, while BU Mug-2 could not perform at par under a saline environment. Thus, it might be inferred that mungbean genotypes differ in their potential for salt endurance due to the germination vigor and seedling growth robustness and screening of salt-tolerant cultivars could mitigate the detrimental effects of saline environment. [ABSTRACT FROM AUTHOR]

Context.--Noninvasive self-sampling is a convenient option that may be highly accepted by women for home- based detection, which could increase the screening rate for cervical cancer (CC) and reduce its incidence and mortality. Objective.--To compare the distribution of high-risk human papillomavirus (hr-HPV) between the vulva and cervix and to explore the clinical value of vulvar HPV detection in CC screening. Design.--The study was nested within a clinical trial on a recombinant HPV 9-valent vaccine for women ages 20 to 45 years. Women with paired vulvar and cervical specimens were included and underwent cytology and HPV detection. The consistency of HPV detection between vulvar and cervical specimens was evaluated using Cohen K statistics. Sensitivity, specificity, positive predictive value (PPV), and negative predictive value (NPV) were used to evaluate the diagnostic accuracy of primary CC screening. The primary end points were cervical intraepithelial neoplasia (CIN) grade 2/3 or worse (CIN2+/3+). Results.--A total of 7999 women were enrolled, and 83/33 cases were diagnosed as CIN2+/CIN3+. The HPV- positive rate in vulvar specimens (1785 of 7999; 22.32%) was higher than that in cervical specimens (1390 of 7999; 17.38%), and there were no significant differences in the distribution of hr-HPV genotypes between the vulva and cervix in patients with CIN2+/CIN3+. Vulva-based HPV primary screening showed sensitivity, specificity, PPV, and NPV comparable to those for cervix-based HPV primary CC screening in the detection of CIN3+. Conclusions.--The distribution of vulvar and cervical HPV was similar in patients with CIN2+/CIN3+. Vulva-based HPV primary CC screening had acceptable diagnostic efficacy and might be used as a modality for primary CC screening. [ABSTRACT FROM AUTHOR]

Context.--There have been exceedingly few reports of epidermodysplasia verruciformis (EV) or EV-like lesions in the vulva. We describe the first observation of vulvar lesions displaying synchronous EV-like histology and conventional high-grade squamous intraepithelial lesion (HSIL), a finding hitherto unreported in medical literature. Objectives.--To describe this novel vulvar lesion with hybrid features of HSIL and EV, attempt to confirm the hypothesis of coinfection with a and b human papillomavirus (a-HPV and b-HPV) genotypes, and describe relevant underlying genetic mutations. Design.--Cases were retrospectively selected from our institutional archive. Detailed review of clinical information, histologic examination, and whole genome sequencing (WGS) were performed. Results.--Five samples from 4 different patients were included. Three of 4 patients had a history of either iatrogenic immune suppression or prior immune deficiency, and all 3 featured classic HSIL and EV changes within the same lesion. One patient had no history of immune disorders, presented with EV-like changes and multinucleated atypia of the vulva, and was the sole patient without conventional HSIL. By WGS, several uniquely mappable reads pointed toward infection with multiple HPV genotypes, including both a-HPVs and b-HPVs. Mutations in genes implicated in cell-mediated immunity, such as DOCK8, CARMIL2, MST1, and others, were also found. Conclusions.--We provide the first description of vulvar lesions harboring simultaneous HSIL and EV features in the English-language literature, a phenomenon explained by coinfection with a-HPV and b-HPV genotypes. The finding of EV-like changes in a vulvar specimen should prompt assessment of the patient's immune status. [ABSTRACT FROM AUTHOR]

Plant selection conducted in commercial orchards is mainly based on plant features. This study characterizes and selects acerola tree genotypes with promising features for cultivation in the Gurguéia Valley region, Piauí. Twenty-five genotypes were used, consisting of 15 clones (CL 03, CL 08, CL 09, CL 12, CL 13, CL 14, CL 20, CL 23, CL 26, CL 27, CL 30, CL 31, CL 33, CL 36, and CL 38) and 10 cultivars (BRS 235, BRS 236, BRS 237, BRS 238, BRS 366, Sertaneja, Costa Rita, Morena, Tropicana, and Junko). The experiment was set up in a randomized block design with three blocks and three plants per experimental unit in 4 m x 3 m spacing. A total of 40% of the genotypes evaluated showed an umbrella shape, 36% showed a semi-open shape, and 24% showed an open shape. Clones 09, 14, and 12 presented the highest cultivation potential in the region, with monthly production of 5.01, 4.30, and 3.70 kg plant-1 per year and productivity of 4.16, 3.59, and 3. 08-ton ha-1, respectively. Clone 27, cultivars BRS 236 and BRS 235, and clone 14 were the earliest genotypes, requiring 1,503.3, 1,535.6, 1,686.6, and 1,686.6 DD; respectively, to complete their cycle. Clones 09 and 14 stood out from the others and are potentially promising for cultivation in the Gurgueia Valley region. [ABSTRACT FROM AUTHOR]

The state of Rio Grande do Sul (RS) is the third largest sunflower producer in Brazil. This study verified the existence of linear relationships between grain yield, oil content, and oil yield in sunflower (Helianthus annuus L.) genotypes evaluated in RS. The data on grain yield (GY), oil content (OC), and oil yield (OY) were obtained from 73 sunflower cultivar trials in 21 municipalities in RS from 1999 to 2018. Scatter diagrams were createdto investigate the relationships between the variables GY, OC, and OY. Then, Pearson's linear correlation coefficient (r) was calculated between the variables, and the Student's t-test was performed at a 5% significance level. There is a positive and significant linear relationship between PG and OY. However, no linear relationship was found between grain yield and oil content in sunflower genotypes. Additionally, a positive linear association of high magnitude (r = 0.9672) was observed between grain yield and oil yield, while a low magnitude (r = 0.2245) was found between oil content and oil yield. [ABSTRACT FROM AUTHOR]

Due to the economic importance of maize, it is essential to evaluate the performance of genotypes under environmental variations (years, locations, and seasons). Consequently, researchers have scrutinized genotype-environment (G×E) interactions to ensure reliability in genotype recommendations. Furthermore, when a G×E interaction exists, adaptability and stability analysis can be performed. This analysis enables one to identify genotypes with predictable responses and adaptability to environmental variability. Hence, this study sought to determine if there is a G×E interaction and evaluate the response of 16 maize genotypes across seven environments through adaptability and stability analyses. Seven experiments were conducted with 16 maize genotypes using a randomized complete block design with three replications. Tassel length (TL), tassel branch number (TBN), tassel dry matter (TDM), and grain yield (GY) were evaluated. Individual and joint variance analyses were performed, along with the F-test at a 5% significance level. The complex parts of the interaction between genotypes and pairs of environments were estimated, followed by adaptability and stability analyses using the Eberhart and Russell method. A genotype-environment interaction was found for TL, TBN, TDM, and GY, indicating that genotypes respond differently in various environments. However, considering all four traits, there is no indication of the ideal genotype. [ABSTRACT FROM AUTHOR]

Importance: Individuals with sickle cell disease (SCD) are at heightened risk of poor neurocognitive and academic outcomes. The relationship between fine motor skills and academic outcomes is not well understood. Objective: To compare the fine motor skills of individuals with SCD with normative expectations, test whether demographic and medical factors are associated with fine motor performance, and determine the impact of fine motor performance on academic performance. Design: Cross-sectional. Setting: St. Jude Children's Research Hospital. Participants: Individuals with SCD (N = 376; ages 8–24 yr). Outcomes and Measures: Fine motor outcomes included visual–motor integration, manual dexterity, and graphomotor speed. Academic outcomes included math fluency and word reading. Demographic and medical variables were obtained via medical records and interviews. Results: Compared with normative expectations, the performance of individuals with SCD on all fine motor measures was lower than expected. Male sex, lower socioeconomic status, and lower oxygen saturation was associated with slower graphomotor speed. Lower socioeconomic status and older age were associated with lower visual–motor integration scores. Performance on all fine motor measures was positively associated with math fluency and word reading. Conclusions and Relevance: Individuals with SCD exhibited poorer than expected fine motor skills across multiple motor domains, and these deficits were associated with poorer academic outcomes. Early referral to intervention services for fine motor skills may facilitate improved academic outcomes for individuals with SCD. Plain-Language Summary: This study had three objectives: (1) Compare the fine motor skills of people with sickle cell disease (SCD) with normative expectations, (2) test whether demographic and medical factors are associated with fine motor performance, and (3) determine the impact of fine motor performance on academic performance. We found that SCD is a risk factor for lower than expected fine motor performance across multiple fine motor domains and that these deficits also affect functional academic skills. The study found that sickle cell disease is a risk factor for lower than expected fine motor performance across multiple domains and that these deficits also affect functional academic skills. [ABSTRACT FROM AUTHOR]

The current study was conducted at four different locations in India in order to evaluate the genetic diversity and stability of 38 genotypes of onion (Allium cepa L.) under various climatic circumstances. The genetic diversity was evaluated through cluster analysis which divided thirty-eight genotypes into two major clusters (cluster I and cluster II) each of which had 20 and 18 genotypes. As per Additive Main-effects and Multiplicative Interaction (AMMI) model, five genotypes from cluster I, namely Accession (Acc.) 1217, 1209, Bhima Shweta, 1639, and 1640 were shown to have greater adaptation, with regressive values of 0.14, 0.74, 1.51, 2.11, and 2.17, respectively and marketable yields ranging from 176.23–227.31 q/ha. The mean performance of genotypes in individual clusters revealed that the cluster I and cluster II genotypes showed maximum marketable yield, total yield and average bulb weight. Based on the findings of the assessment study, these stable genotypes could be utilised as parent plants in future breeding programmes to develop high-yielding onion varieties that not only showcase stability but also possess widespread adaptability, thereby enhancing overall onion crop performance. [ABSTRACT FROM AUTHOR]

Purpose: The present study was conducted to determine the presence of Toxoplasma gondii in donkeys by molecular tests and genetic diversity analysis of the obtained DNA samples from central Kenya. Method: A total of 363 blood samples were collected from donkeys in Meru and Kirinyaga Counties, and 96 samples that were previously seropositive for T. gondii using indirect ELISA were subjected to nested PCR based on the amplification of the internal transcribed spacer 1 (ITS-1) gene followed by DNA sequencing and phylogenetic analysis. Genotyping was performed on 15 selected positive samples using multilocus nested polymerase chain reaction restriction fragment length polymorphism (Mn-PCR-RFLP) with eight genetic markers ('SAG 2, 5'SAG 2, Alt. SAG 2, SAG 3, GRA 6, C29-2, BTUB and L358). Results: Toxoplasma gondii DNA was detected in 36.5% (35/96) of the blood samples. The sequences obtained exhibited 98.2–99.5% homology with those deposited in GenBank. Phylogenetic analysis demonstrated that the obtained sequences are conserved and clustered with those of infecting animals from other regions of the world. Eighteen distinct T. gondii haplotypes were identified to be circulating in donkeys from central Kenya. The T. gondii DNA samples exhibited high haplotype diversity (Hd: 0.915) and limited genetic diversity (π = 0.01027). PCR-RFLP of T. gondii DNA-positive samples revealed three different genetic combinations that consisted of alleles I, II and III, indicating the dissemination of atypical genotypes. Conclusion: This study demonstrated that T. gondii is widespread in donkeys from Kenya and could be a possible source of infection in humans. These findings are important for designing control strategies for this parasite to improve the livestock sector, which is one of the main sources of livelihood for farmers in Kenya. [ABSTRACT FROM AUTHOR]

Diverse rice germplasm comprising 112 genotypes was evaluated for yield traits across three environments. Pooled and environmentwise analysis of variance revealed heterogeneity in the data and significant environment interactions for all the yield traits. As per AMMI (additive main effects and multiplicative interaction) and GGE (genotype and genotype x environment interaction) biplots, the influence of environment was significant and varying on all the component yield traits including grain yield and was not significant in case of flowering date. Dry season at Maruteru in 2014–15 (E1) was the most discriminative and representative environment for favourable plant growth in terms of plant height, panicle number and panicle length. None of the environments represented ideal environment for the favourable expression of grain number while all the environments were equally informative for thousand grain weight and grain yield. Panicle number, grain number and thousand grain weight were contributing to grain yield across the environments. Three genotypes Panthdhan 12, Konark and Udaygiri were the most stable genotypes for grain yield with favourable combination of associated yield genes for all the traits, viz. 1000 grain weight, the number of grains per panicle, the number of filled grains per panicle, productive tillers and plant height with higher yield, and grouped in one cluster. Genotyping using previously reported markers revealed that favourable alleles of yield genes associated with the number of productive tillers were predominantly found followed by alleles for the number of grains/filled grains per panicle correlating with the superior phenotypic value of the respective trait. The information on association of yield stability with reported yield genes from this study is useful in marker-assisted breeding studies for yield improvement and can be confirmed with various sets of genotypes under multi-environment testing. The identified superior genotypes are potential components in future breeding programmes and the development of stable adaptable varieties. The present study suggests that yield stability could be effectively achieved with targeted improvement of component yield traits associated with favourable alleles. [ABSTRACT FROM AUTHOR]

The identification of genotypes with high yield and yield stability under drought is the first step towards the generation of novel lines with better adaptation to climate change variation. The aim of this work was to explore the efficiency of ten different drought tolerance indices to identify superior genotypes. Ten wheat genotypes were evaluated for two years under two irrigation regimes: control and water deficit. As expected, the water deficit reduced the phenotypic values, of the evaluated traits in tested wheat cultivars. Significant positive correlations were found considering the grain-yield under both regimes (Yp, Ys), and three drought tolerance indices (DTIs): the Mean Productivity Index (MP), the Stress Tolerance Index (STI) and the Geometric Mean Productivity (GMP). These correlations were confirmed in Bi-plot analysis and the graphical separation of tested genotypes associated with different performances in drought indices. MP, STI and GMP indices consistently selected BioInta 2002, Baguette 9 and BioInta 2004 as the drought tolerant materials, and conversely, Baguette P. 11, BioInta 1005 and Pampeano as drought susceptible materials. These analyses positionate MP, STI and GMP as appropriate tools to find genotypes with contrasting drought response to drought to later be incorporated as genetic resources into breeding programs. [ABSTRACT FROM AUTHOR]

SUMMARY: Functional foods are foods that offer health benefits over and above their nutritional value. As eggs are a food of global importance, many authors believe that they are an ideal candidate for functional foods of the future, as it is possible to influence their chemical composition through production technology. Vitamins are one of the most important groups of micronutrients essential for human health, and eggs are recognised as an important source of vitamins in the diet, especially fat-soluble vitamins. The egg yolk contains large amounts of vitamins A, D, E and K. Eating two eggs a day covers 10% to 30% of a person's vitamin requirements. This paper reviews the results of a large number of researchers on the influence of various aspects of production technology on the content of fat-soluble vitamins in eggs. Most attention has been paid to the influence of vitamin supplements in feed for laying hens, but also to the influence of the rearing system and the genotype as well as the interaction between the vitamins. [ABSTRACT FROM AUTHOR]

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Three different wheat varieties were the subject of an experiment to see how salt affected seed germination and seedling development. BARI Gom20 (Gourab) was employed as a salt sensitive variety, whereas BARI Gom28 and BARI Gom25 were utilized on salt tolerant types. Three replications, three salinity levels (0, 150, and 200 mM of NaCl), and a complete randomized design (CRD) were used to set up the experiment. All the wheat varieties had a noticeable growth loss due to salt stress. Wheat growth was inhibited more in salt-sensitive cultivars compared to salt-tolerant cultivars, BARI Gom28 showed overall stronger salt tolerance. When wheat was tested for salt tolerance, there were striking variations in the antioxidant enzymes (catalase, peroxidase, and ascorbate peroxidase) that were present. The effect of rising salt content, catalase (CAT), ascorbate peroxidase (APX), and peroxidase (POD) activity varied between salt-sensitive and salt-tolerant cultivars. Intriguingly, TaAOX1a and TaAOX1c gene expression levels increased in BARI Gom28 as the degree of salt concentration increased. Additionally, the salt-tolerant BARI Gom28 had smaller accumulations of hydrogen peroxide, malondialdehyde, and higher activity of the antioxidant enzymes than the salt-sensitive Gourab, indicating that the latter had comparatively less oxidative damage. However, the contribution of antioxidant enzymes and AOX gene family to salinity stress response in wheat is further requisite to unlock the molecular functions. Exploring the molecular mechanism for lowering salt stress in wheat cultivars will require more research. [ABSTRACT FROM AUTHOR]

This study investigates the differential responses of two maize genotypes, SC180 and SC168, to salt stress, aiming to elucidate the mechanisms underlying salinity tolerance and identify traits associated with improved stress resilience. Salinity stress, imposed by 150 mM NaCl, adversely affected various growth parameters in both genotypes. SC180 exhibited a more pronounced reduction in shoot length (13.6%) and root length (13.6%) compared to SC168, which showed minimal reductions (3.0% and 2.3%, respectively). Additionally, dry weight losses in SC180's leaves, stems, and roots were significantly greater than those in SC168. Under salinity stress, both genotypes accumulated Na+ in all organs, with SC168 showing higher Na + concentrations. However, K+ levels decreased more significantly in SC180's leaves than in SC168's. The study also assessed physiological responses, noting that SC180 experienced a substantial reduction in relative water content (RWC) in leaves (22.7%), while SC168's RWC remained relatively stable (5.15%). Proline accumulation, a marker for osmotic adjustment, increased 2.3-fold in SC168 compared onefold in SC180. Oxidative stress indicators, such as electrolyte leakage and hydrogen peroxide levels, were elevated in both genotypes under salt stress, with SC180 showing higher increases (48.5% and 48.7%, respectively) than SC168 (35.25% and 22.0%). Moreover, antioxidant enzymes (APX, CAT, POD, SOD, GR) activities were significantly enhanced in SC168 under salinity stress, whereas SC180 showed no significant changes in these activities. Stress indices, used to quantify and compare salinity tolerance, consistently ranked SC168 as more tolerant (average rank = 1.08) compared to SC180 (average rank = 1.92). Correlation analyses further confirmed that SC168's superior tolerance was associated with better Na + regulation, maintenance of K+ levels, and a robust antioxidant defense system. In conclusion, SC168 demonstrated greater resilience to salinity stress, attributed to its efficient ion regulation, stable water status, enhanced osmotic adjustment, and strong antioxidant response. These findings provide valuable insights for breeding and developing salinity-tolerant maize varieties. [ABSTRACT FROM AUTHOR]

Background: Type 2 diabetes mellitus, one of the most prevalent metabolic disorders worldwide, is closely linked with an enhanced risk of atherosclerosis. However, the molecular mechanism of this linkage is not still clear. Genetic variations in the mTOR gene may increase the susceptibility of individuals to these diseases. Methods: One hundred nine diabetic patients and 375 healthy subjects participated in this study. mTOR Single Nucleotide Polymorphism (SNP) rs2295080 was determined using Polymerase Chain Reaction-Restriction Fragment Length Polymorphism (PCR-RFLP). Results: Comparison of genotypic, allelic, and genotypic combination frequencies between cases and controls revealed no significant result. Nevertheless, the frequency of rs2295080 GT + TT genotype was significantly more in diabetic women with atherosclerosis compared with those without atherosclerosis (p = 0.047). Besides, the rs2295080 G allele was more frequently detected in diabetic women without atherosclerosis compared to those with atherosclerosis (p = 0.046). Conclusion: The rs2295080 GT + TT genotype predisposes Iranian diabetic women to atherosclerosis, while the rs2295080 G allele protects them against atherosclerosis. However, additional experiments using larger sample sizes are needed to verify this result. [ABSTRACT FROM AUTHOR]

AbstractIntroductionMethods and materialsResultsConclusionA growing body of strong evidence shows that the dysfunction of miRNAs plays key roles in the development and progression of Parkinson’s disease (PD), however, little data has been reported on the association of their SNPs with PD susceptibility. In this study, we investigated the association of regulatory miR-SNP rs4636297A > G with a functional effect on the expression of miRNA-126, as a key dysregulated miRNA in the PD, with the susceptibility and clinical features of the PD.In current study, we included a population consisting of 120 patients with PD and 120 clinically healthy individuals, and their blood samples were taken. After extracting the DNAs, the genotyping of the miR-SNP rs4636297A > G was done through RFLP-PCR technique. Finally, the association of this SNP with the risk and clinical features of PD was determined.Although the results showed that the two groups did not differ significantly in terms of allelic and genotype frequencies, it was clinically found that individuals with genotypes carrying the minor allele G (AG and GG genotypes) of the miR-SNP rs4636297A > G had an increased risk of developing rigidity feature in the PD compared to its homozygous major AA genotype (GG genotype; OR = 5.14, p = 0.038 & GA genotype; OR = 4.32, p = 0.032).We report for the first time a significant association of functional regulatory SNP rs4636297A > G in the miR-126 with the Parkinson’s clinicopathology. Therefore, this miR-SNP can have a potential predictive biomarker capacity for rigidity in PD, although this hypothesis needs further investigation in the future. [ABSTRACT FROM AUTHOR]

Hereditary ataxias are classified by inheritance patterns into autosomal dominant, autosomal recessive, X-linked, and mitochondrial modes of inheritance. A large group of adult hereditary ataxias have autosomal dominant inheritance, and autosomal recessive cerebellar ataxias (ARCAs) are rare, with greater diversity in phenotypic and genotypic features. Therefore, comprehensive genetic testing is useful for identifying the genes responsible for ARCAs. We identified two novel pathogenic variants of the SQSTM1 and SYNE1 genes via whole-exome sequencing in patients with ARCAs. [ABSTRACT FROM AUTHOR]

The water absorption capacity (WAC) of hard wheat (Triticum aestivum L.) flour affects end‐use quality characteristics, including loaf volume, bread yield, and shelf life. However, improving WAC through phenotypic selection is challenging. Phenotyping for WAC is time consuming and, as such, is often limited to evaluation in the latter stages of the breeding process, resulting in the retention of suboptimal lines longer than desired. This study investigates the potential of univariate and multivariate genomic predictions as an alternative to phenotypic selection for improving WAC. A total of 497 hard winter wheat genotypes were evaluated in multi‐environment advanced yield and elite trials over 8 years (2014–2021). Phenotyping for WAC was done via the solvent retention capacity (SRC) using water as a solvent (SRC‐W). Traits that exhibited a significant correlation (r ≥ 0.3) with SRC‐W and were evaluated earlier than SRC‐W were included in the multivariate genomic prediction models. Kernel hardness and diameter were obtained using the single kernel characterization system (SKCS), and break flour yield and total flour yield (T‐Flour) were included. Cross‐validation showed the mean univariate genomic prediction accuracy of SRC to be r = 0.69 ± 0.005, while bivariate and multivariate models showed an improved prediction accuracy of r = 0.82 ± 0.003. Forward validation showed a prediction accuracy up to r = 0.81 for a multivariate model that included SRC‐W + All traits (SRC‐W, Diameter, SKCS hardness and diameter, F‐Flour, and T‐Flour). These results suggest that incorporating correlated traits into genomic prediction models can improve early‐generation prediction accuracy. [ABSTRACT FROM AUTHOR]

Congenital long QT syndrome (LQTS) diagnosis is complicated by limited genetic testing at scale, low prevalence, and normal QT corrected interval in patients with high-risk genotypes. We developed a deep learning approach combining electrocardiogram (ECG) waveform and electronic health record data to assess whether patients had pathogenic variants causing LQTS. We defined patients with high-risk genotypes as having ≥1 pathogenic variant in one of the LQTS-susceptibility genes. We trained the model using data from United Kingdom Biobank (UKBB) and then fine-tuned in a racially/ethnically diverse cohort using Mount Sinai BioMe Biobank. Following group-stratified 5-fold splitting, the fine-tuned model achieved area under the precision-recall curve of 0.29 (95% confidence interval [CI] 0.28–0.29) and area under the receiver operating curve of 0.83 (0.82–0.83) on independent testing data from BioMe. Multimodal fusion learning has promise to identify individuals with pathogenic genetic mutations to enable patient prioritization for further work up. [ABSTRACT FROM AUTHOR]

Dioscorea bulbifera is an edible yam specie with aerial bulbils. Assessing the genetic diversity of D. bulbifera accession for cultivation and breeding purposes is essential for it genetic improvement, especially where the crop faces minimal attention. The aims of this study was to assess the genetic diversity of Dioscorea bulbifera accessions collected from Nigeria and accessions maintained at the genebank of International Institute of Tropical Agriculture (IITA) Ibadan. Accessions were profiled using quatitative and qualitative phenotypic traits and Diversity Array Technology SNP-markers. Multivariate analysis based phenotypic traits revealed high variability among the evaluated accessions and all phenotypic traits assessed were useful in discriminating the aerial yam accessions. Clustering analysis based phenotypic traits revealed the presence of two well defined clusters. Using DArT-Seq marker, the 94 accessions were classified into three genetic group through the admixture and the phylogeny analysis. The comparision of phenotypic and genotypic clustering revealed inconsistency membership across the two clustering methods. The study established a baseline for the selection of parental lines from the genetic groups for genetic improvement of the D. bulbifera. [ABSTRACT FROM AUTHOR]

Stripe rust, induced by Puccinia striiformis f. sp. tritici, is the most harmful and prevalent disease in temperate regions worldwide, affecting wheat production areas globally. An effective strategy for controlling the disease involves enhancing genetic resistance against stripe rust, achieved through Egyptian breeding efforts not previously conducted on wheat genotypes. The resistance level to stripe rust in thirty-eight wheat genotypes was assessed using marker-assisted selection methods. The investigation suggests that wheat breeding programs can utilize slow-rusting Yr genes, which are effective resistance genes, to develop novel genotypes with stripe rust resistance through marker-assisted breeding. Based on the four disease responses of the wheat genotypes under investigation, the results categorized the genotypes into three groups. The first group included resistant genotypes, the second group exhibited a slow-rusting character with the lowest disease symptom rates, and the last group displayed the highest disease characteristics rates throughout the three seasons, comprising fast-rusting genotypes. The rust-resistant genes identified were Yr5, Yr9, Yr10, Yr15, Yr17, Yr18, Yr26, Yr29, Yr30, and Yr36. Genes Yr26, Yr30, and Yr36 were present in all genotypes. Genotypes Misr3, Misr4, Giza168, Giza167, Giza170, Giza171, Gemmeiza9, and Gemmeiza10 carried the Yr9 gene. Only one genotype, Sids13, was found to have the Yr17 gene. Genes Yr18 and Yr29 were identified in Sids14, Giza168, Giza170, Gemmeiza9, and Gemmeiza10. However, none of the wheat genotypes showed the presence of Yr5, Yr10, or Yr15. Several backcrossing generations were conducted to introduce the Yr5 and Yr10 genes into susceptible genotypes (Misr1, Misr2, and Gemmeiza11). These genotypes are cultivated globally and are known for producing high-quality flour, making them of great importance to farmers. The study demonstrates significant potential for enhancing wheat genotypes for stripe rust resistance and increased production. [ABSTRACT FROM AUTHOR]