Effect of Nitrogen, Phosphorus and Variety on Physiological Indices and Nutrient Composition of Livingstone Potato (Plectranthus esculentus N.E.Br.) in Gombe, Northern Guinea Savannah, Nigeria

Plectranthus esculentus N.E.Br. locally known as “rizga” is an important indigenous tuber crop in Nigeria which is currently endangered. One major factor that causes disappearance of this species, is the lower agronomic recommendations developed for growers and lack of information about nutrient contents leading to loss of interest in its cultivation. A field experiment was therefore conducted during the 2016 and 2017 rainy seasons to determine the effect of nitrogen, phosphorus and variety on physiological indices as an attempt to conserve and evaluate the potential of the crop in food security, source of income and its adaptation in the Northern Guinea Savannah of Nigeria. The experiment was laid out in a Randomized Complete Block Design (RCBD) with three replications. Treatments consisted four levels of nitrogen and phosphorus (­0, 60, 90 and 120 kg/ha), respectively and two varieties (vat Riyom and vat Loang’at). Results from analysis of variance showed that nitrogen and phosphorus applied at 90 kg/ha significantly produced higher physiological indices in both years. Beyond this rate, there was a decline in physiological indices resulting in decrease in starch content and dry matter accumulation. Harvest index indicated a positive relationship between the proportion of the biological yield and nutrient levels. Although, varietal difference was not significant on harvest index. This is an indication that HI is purely a genetic trait as affected by environmental factors. It was therefore concluded that, for high yield of livingstone potato, soils should be treated with a moderate application rate of 90 kg/ha nitrogen and phosphorus for enhanced physiological indices which are measures of growth and productivity per unit area of land in the Northern Guinea Savanna of Nigeria.

Prevalence of Phenylthiocarbamide (PTC) Taste Sensitivity and Colour Blindness in Tengger Tribe Population, Ranupani Village, Senduro, Lumajang

The taste of sensitivity of phenylthiocarbamide (PTC), is autosomal dominant trait inherited while the colour blindness is a sex linked genetic trait on the X chromosome. The purpose of this study was to determine the distribution of taster and non taster phenotypes, prevalence of color blindness, frequency of taster and non taster alleles, and frequency of color blind alleles, as well as pedigree analysis in non taster and color blind families. The research was conducted on the Tengger tribe, in Ranupani village, Senduro, Lumajang. Determination of the sample is carryout randomly. Detection of the ability to taste PTC was respondents to taste the PTC solution from the lowest concentration of 0.32mg/L (P13) to the highest concentration of 1300 mg/L (P1). Color blindness detection by the Ishihara method. The results of the study showed that the distribution of the taster was 98.1% while the non-taster was 1.9%. The allele frequency of the dominant taster (T) was 0.86 and the recessive allele non taster (t) is 0.14. The prevalence of color blindness in the population of the Tengger tribe was 0.63% and the allele frequency for color blindness was 0.013. The pedigree analysis of non taster family showed that non taster individuals were born from taster couple (Tt) or from couple of non taster (tt) with tasters (Tt) heterozigot. While the pattern of inheritance of color blindness was criss-cross inheritance pattern, which is passed from mother to son.

Combining schizophrenia and depression polygenic risk scores improves the genetic prediction of lithium response in bipolar disorder patients

Lithium is the gold standard therapy for Bipolar Disorder (BD) but its effectiveness differs widely between individuals. The molecular mechanisms underlying treatment response heterogeneity are not well understood, and personalized treatment in BD remains elusive. Genetic analyses of the lithium treatment response phenotype may generate novel molecular insights into lithium’s therapeutic mechanisms and lead to testable hypotheses to improve BD management and outcomes. We used fixed effect meta-analysis techniques to develop meta-analytic polygenic risk scores (MET-PRS) from combinations of highly correlated psychiatric traits, namely schizophrenia (SCZ), major depression (MD) and bipolar disorder (BD). We compared the effects of cross-disorder MET-PRS and single genetic trait PRS on lithium response. For the PRS analyses, we included clinical data on lithium treatment response and genetic information for n = 2283 BD cases from the International Consortium on Lithium Genetics (ConLi+Gen; www.ConLiGen.org). Higher SCZ and MD PRSs were associated with poorer lithium treatment response whereas BD-PRS had no association with treatment outcome. The combined MET2-PRS comprising of SCZ and MD variants (MET2-PRS) and a model using SCZ and MD-PRS sequentially improved response prediction, compared to single-disorder PRS or to a combined score using all three traits (MET3-PRS). Patients in the highest decile for MET2-PRS loading had 2.5 times higher odds of being classified as poor responders than patients with the lowest decile MET2-PRS scores. An exploratory functional pathway analysis of top MET2-PRS variants was conducted. Findings may inform the development of future testing strategies for personalized lithium prescribing in BD.

Association of FTO rs1421085 single nucleotide polymorphism with fat and fatty acid intake in Indonesian adults

Objective Recent studies showed that genetic polymorphisms in the fat mass and obesity-associated gene (FTO) were associated with obesity and dietary intake. In this study of 71 adults in Jakarta, Indonesia, we investigated FTO rs1421085 association with body mass index (BMI), macronutrient intake, and fatty acid intake. The association was evaluated using linear regression analyses assuming co-dominant, dominant, recessive, over-dominant, and additive genetic models. Results Only individuals with the CC genotype had a considerably higher BMI (p < 0.001), which indicates a recessive genetic trait, but the incidence for this genotype is low (68 TT + TC vs. 3 CC). Individuals with the minor C allele had an estimated increase of fat intake by 3.45–4.06% across various genetic models (dominant: p < 0.010, over-dominant: p < 0.030, additive: p < 0.010). Subjects with TC/CC genotypes had increased dietary monounsaturated fatty acid (MUFA; 1.14%, p = 0.046) and saturated fatty acid (SAFA; 2.06%, p = 0.023) intakes, compared to those with the TT genotype. In conclusion, our study provided evidence for the association between FTO rs1421085 risk allele with higher BMI and individual preferences for consuming more fat, MUFA, and SAFA. This study highlights the important role of FTO gene in food preference, and its influence on body weight.

Idiopathic anaphylaxis: Diagnosis and management

Introduction: Idiopathic anaphylaxis (IA) is a diagnosis of exclusion and is based on the inability to identify a causal relationship between a trigger and an anaphylactic event, despite a detailed patient history and careful diagnostic assessment. The prevalence of IA among the subset of people who experienced anaphylaxis is challenging to estimate and varies widely, from 10 to 60%; most commonly noted is ∼20% in the adult anaphylactic population. Comorbid atopic conditions, such as food allergy, allergic rhinitis, and asthma, are present in up to 48% of patients with IA. Improved diagnostic technologies and an increased understanding of conditions that manifest with symptoms associated with anaphylaxis have improved the ability to determine a more accurate diagnosis for patients who may have been initially diagnosed with IA. Methods: Literature search was conducted on PubMed, Google Scholar and Embase. Results: Galactose-α-1,3-galactose (α-gal) allergy, mast cell disorders, and hereditary a-tryptasemia are a few differential diagnoses that should be considered in patients with IA. Unlike food allergy, when anaphylaxis occurs within minutes to 2 hours after allergen consumption, α-gal allergy is a 3‐6-hour delayed immunoglobulin E‐mediated anaphylactic reaction to a carbohydrate epitope found in red meat (e.g., beef, lamb, pork). The more recently described hereditary α-tryptasemia is an inherited autosomal dominant genetic trait caused by increased germline copies of tryptase human gene alpha-beta 1 (TPSAB1), which encodes α tryptase and is associated with elevated baseline serum tryptase. Acute management of IA consists of carrying an epinephrine autoinjector to be administered immediately at the first signs of anaphylaxis. Long-term management for IA with antihistamines and other agents aims to potentially reduce the frequency and severity of the anaphylactic reactions, although the evidence is limited. Biologics are potentially steroid-sparing for patients with IA; however, more research on IA therapies is needed. Conclusion: The lack of diagnostic criteria, finite treatment options, and intricacies of making a differential diagnosis make IA challenging for patients and clinicians to manage.

Assessment of economically valuable traits of apple varieties and features of the main elements of the technology for their cultivation in an arid climate

The purpose of the research is to create winter-hardy, large-fruited, high-yielding, high-quality varieties of apple trees of different ripening periods and their growing technology (use of a biological product) in the South Urals. The research was carried out on the basis of Orenburg Experimental Station of Horticulture and Viticulture - a branch of the Federal State Budgetary Scientific Institution “Federal Scientific Selection and Technology Center for Horticulture and Nursery ” from 1999 to 2020. Research objects were summer apple varieties – “Orenburgskoe”, “Orenburgskoe krasnoe”, “Solntsedar” (K); winter – “Orenburgskoe pozdnee”, “Zimnee”, “Yuzhnouralskoe” (K). The counts and observations were carried out according to generally accepted methods. As a result of the studies, the data obtained showed that the property of short stature as a genetic trait of resistance is transmitted to the offspring during hybridization. The varieties “Orenburgskoe pozdnee”, “Zimnee” and “Yuzhnouralskoe” showed the greatest increase in productivity embodiment experience “Evrikor Forte + 7” 2.5 l / ha by 25.4%, 24.3% and 22.2% respectively. Thus, the application of “Eurikor-Forte + 7” increased both the number of fruits and their weight, and also increased the yield of the studied varieties.

X-linked SCID with a rare mutation

Background Severe combined immunodeficiency (SCID) is a group of relatively rare primary immunodeficiency disorders (PIDs), characterized by disturbed development of T cells and B cells, caused by several genetic mutations that bring on different clinical presentations. SCID may be inherited as an autosomal recessive or an X-linked genetic trait. Case presentation A 6-year-old male presented with a history of food allergy, productive coughs, and recurrent purulent rhinitis, poor weight gain and hypothyroidism. The total count of CD4+ T lymphocytes, along with their naïve and central memory subpopulations, as well as central memory CD8+ T cells were decreased in flow cytometry. A nucleotide substitution in exon one of interleukin 2 receptor gamma chain (IL-2RG) gene (c.115 G>A, p.D39N, ChrX: 70,331,275) was reported, based on which the diagnosis of X-liked SCID was confirmed. Antiviral and antibiotic prophylaxis, along with monthly IVIG (intravenous immunoglobulin) was started and the patient was subsequently referred for hematopoietic stem cell transplantation. Conclusion PIDs should be considered as the differential diagnosis in any patient with unexplained and bizarre symptoms associated with recurrent infections, allergic and autoimmune manifestations. Clinicians should also bear X-SCID in mind in case of approach to any patient with poor weight gain, unusual allergic or endocrine manifestations, even in the case of a normal or increased level of serum immunoglobulins or T and B cells numbers.

Physician-confirmed and administrative definitions of stroke in UK Biobank reflect the same underlying genetic trait.

Background: Stroke in UK Biobank (UKB) is ascertained via linkages to coded administrative datasets and self-report. We studied the accuracy of these codes using genetic validation. Methods: We compiled stroke-specific and broad cerebrovascular disease (CVD) code lists (Read V2/V3, ICD-9/-10) for medical settings (hospital, death record, primary care) and self-report. Among 408,210 UKB participants we identified all with a relevant code, creating 12 stroke definitions based on the code type and source. We performed genome-wide association studies (GWASs) for each definition, comparing summary results against the largest published stroke GWAS (MEGASTROKE), assessing genetic correlations, and replicating 32 stroke-associated loci. Results: Stroke case numbers identified varied widely from 3,976 (primary care stroke-specific codes) to 19,449 (all codes, all sources). All 12 UKB stroke definitions were significantly correlated with the MEGASTROKE summary GWAS results (rg 0.81-1) and each other (rg 0.4-1). However, Bonferroni-corrected confidence intervals were wide, suggesting limited precision of some results. Six previously reported stroke-associated loci were replicated using ≥1 UKB stroke definitions. Conclusions: Stroke case numbers in UKB depend on the code source and type used, with a 5-fold difference in the maximum case-sample size. All stroke definitions are significantly genetically correlated with the largest stroke GWAS to date.

Mapping of the CaPP2C35 Gene Involved in the Formation of Light-Green Immature Pepper (Capsicum Annuum L.) Fruits via GWAS and BSA

In pepper (Capsicum annuum L.), the common colors of immature fruits are yellowish white, milky yellow, green, purple, and purplish black. Some genes related to these colors have been cloned, but only those related to dark green, white, and purple immature fruits; few studies have investigated light-green immature fruits. Here, we performed a genetic study using light-green (17C827) and green (17C658) immature fruits. We found that the light-green color of immature fruits were controlled by a single locus-dominant genetic trait compared with the green color of immature fruits. We also performed a genome-wide association study and bulked segregant analysis of immature-fruit color and mapped the LG locus to a 35.07 kbp region on chromosome 10. Only one gene, Capana10g001710, was found in this region. A G-A substitution occurred at the 313th base of the Capana10g001710 coding sequence in 17C827, resulting in the α-helix of its encoded PP2C35 protein to turn into a β-fold. The expression of Capana10g001710 (termed CaPP2C35) in 17C827 was significantly higher than in 17C658. Silencing of CaPP2C35 in 17C827 resulted in an increase in chlorophyll content in the exocarp and the appearance of green stripes on the surface of the fruit. These results indicate that CaPP2C35 may be involved in the formation of light-green immature fruits by regulating the accumulation of chlorophyll content in the exocarp. Thus, this research lays the foundation for further studies and genetic improvement of immature-fruit color in pepper.

Fruit Colour and Novel Mechanisms of Genetic Regulation of Pigment Production in Tomato Fruits

Fruit colour represents a genetic trait with ecological and nutritional value. Plants mainly use colour to attract animals and favour seed dispersion. Thus, in many species, fruit colour coevolved with frugivories and their preferences. Environmental factors, however, represented other adaptive forces and further diversification was driven by domestication. All these factors cooperated in the evolution of tomato fruit, one of the most important in human nutrition. Tomato phylogenetic history showed two main steps in colour evolution: the change from green-chlorophyll to red-carotenoid pericarp, and the loss of the anthocyanic pigmentation. These events likely occurred with the onset of domestication. Then spontaneous mutations repeatedly occurred in carotenoid and phenylpropanoid pathways, leading to colour variants which often were propagated. Introgression breeding further enriched the panel of pigmentation patterns. In recent decades, the genetic determinants underneath tomato colours were identified. Novel evidence indicates that key regulatory and biosynthetic genes undergo mechanisms of gene expression regulation that are much more complex than what was imagined before: post-transcriptional mechanisms, with RNA splicing among the most common, indeed play crucial roles to fine-tune the expression of this trait in fruits and offer new substrate for the rise of genetic variables, thus providing further evolutionary flexibility to the character.