Genetic Influences Research Articles

Semantic network analysis of spatial gene sequence in Dabaodao neighbourhood

ABSTRACT Dabaodao neighbourhood was a central gathering place of Chinese in the period of German colonial rule in Qingdao (north-eastern China), so the style and form of it express the integration of Chinese and Western cultures. With the help of the semantic network method, this paper proposes a gene analysis method suitable for historic neighbourhoods and analyses the genetic heritability of the Dabaodao neighbourhood. Regarding specific content, the spatial genes of the Dabaodao neighbourhood are identified as the primary research object, and two genetic research samples are proposed. Next, the spatial texture of the neighbourhoods is analysed to construct a semantic network model. Finally, with the help of the topological quantification method, a specific gene sequence analysis of the Dabaodao neighbourhood is conducted to discuss the degree of genetic influence expressed by it. On this basis, the effectiveness of gene analysis in neighbourhood renewal is discussed in the context of the renewal in the Dabaodao neighbourhood. Semantic network gene analysis not only provides an indicative strategy for the renewal of the Dabaodao neighbourhood but is also a formal analysis method different from the traditional quantitative analysis.

Abstract 790: Sex and race-dependent variations in the mutational landscape of clonal hematopoiesis

Abstract Introduction: Clonal hematopoiesis of indeterminate potential (CHIP) has emerged as a significant precursor to hematological malignancies and is associated with several age-related diseases. Recent studies in relatively small disease specific cohorts have suggested that CHIP may exhibit variations among different races and between males and females raising intriguing questions about potential genetic and environmental influences. Understanding the differences in CHIP across races and between males and females may have implications for personalized cancer risk assessment and targeted therapeutic strategies. Methods: Patient’s data were obtained from the Cancer Therapy and Clonal hematopoiesis via cBioportal. The original study was designed to examine clonal hematopoiesis mutations that were found in blood samples obtained from 24,146 patients with non-hematological cancers and their tumor-blood pairs were analyzed using targeting sequencing data MSK-IMPACT (Memorial Sloan Kettering-IMPACT). The cohort consisted of 45.7% males and 54.3% females; including 6.8% Asians, 6.2% Blacks, and 76.3% Whites. We examined mutation frequencies among these racial groups and between genders, employing the two-sided Fisher's exact test and adjusting p-values for multiple comparisons. Differences were considered significant when both P value and Q values are less than 0.05. Results: DNMT3A mutations were substantially more prevalent in females than in males (38.94% vs 31.37%, p-value: <10−10, q-value: 6.19e−09), While ASXL1 mutations were more frequent in males than females (5.82% vs 2.69%, p-value: <10−10, q-value: 6.19e−09). In the racial cohorts with sufficient sample sizes, STAT5B and CSF1R mutations were most frequent in Asian (1.40% and 0.84%), followed by Black (0.98% and 0.24%) and White populations (0.29% and 0.09%), (p-value: 8.099e−04 and 7.490e−04, q-value: 0.0234 and 0.0232). Several other CHIP mutations were enriched in Black: RARA, SMAD2, CDKN1B, CENPA, CTLA4, EIF1AX, ELF3, MSI1, MYC, SOX17, AURKA. On the other hand, H3C1, H3C4, MYCL were enriched in the Asian cohort. Conclusion: Our analysis provides insights into the complex interplay of sex and racial factors in shaping CHIP mutation frequencies. As CHIP continues to gain recognition as a critical precursor to malignancies, understanding these variations contributes to refining our understanding of its underlying mechanisms and clinical implications. Citation Format: Kanaka Dhuri, Houda Alachkar. Sex and race-dependent variations in the mutational landscape of clonal hematopoiesis [abstract]. In: Proceedings of the American Association for Cancer Research Annual Meeting 2024; Part 1 (Regular Abstracts); 2024 Apr 5-10; San Diego, CA. Philadelphia (PA): AACR; Cancer Res 2024;84(6_Suppl):Abstract nr 790.

Abstract 1774: Examination of variants of unknown significance (VUSs) and co-occurring mutations from comprehensive genomic profiling (CGP) results in a cross tumor model

Abstract Data from Comprehensive Genomic Profiling (CGP) generates both actionable and non-actionable results for oncology patients. While the actionable results are included in reports, the non-actionable are less often investigated. This study explored the results of both actionable and non-actionable mutations as well as the co-occurrence of mutations in a pan-tumor model.In this study, we explored data generated from 41 oncology practices where patients (+ 18yo) were tracked within the iKnowMed EHR and had received CGP as part of their care. CGP is defined as a large-scale (300+ genes) NGS-based assay. As part of this study, results between 2017 - present were collected across tumor types and stages.Assessment of the data pool demonstrated that a majority of the 44,769 profiles were generated from Stage IV patients (n=24,545) and NSCLC, colorectal, and breast cancers were the highest representing disease populations in the cohort. The tested gene targets aligned with the diseases that were most represented, with EGFR, PIKC3A, ERBB2, and KRAS genes as the most common genes to have documented results. Exploration of the actionable biomarkers showed the expected pathogenic mutations in the relevant disease context. When exploring the remaining reported variants, it was found that CGP results yield a significant (p<0.05) number of VUSs as well (n=23106). The complexity of mutations was also examined on an intra- and intergenic basis. Intragenic assessment for variants focused on complex mutations, qualified by 2+ mutations including multiple SNV, multiple indels, or SNVs and deletions in the same gene. Trends of co-occurring alterations were not obvious, with TP53 having the most reported occurrences of complex mutations (n=7491). Exploration moved to intergenic assessment and, while disease-bounded exploration did not reveal trends, a disease-agnostic approach revealed co-occurrences of mutations. The top 5 genes with co-existing mutations are TP53, KRAS, APC, PIK3CA, and ATM. Co-occurrence of alterations in any gene with tumor agnostic markers was also explored, notably TMB. The presence of mutation with TMB-high was similar to that of intergenic complex mutations and the same genes had high co-incidence levels. This study has demonstrated that CGP data provide insights beyond actionable biomarkers, and that a pan-tumor approach allows new trends to be observed. Real-world data bias for reported biomarkers skewed the results observed. Taking the results out of disease context allows us to visualize new possibilities for identifying variants implicated in disease processes. Future studies could allow the exploration of unreported data from raw files, overlaid with cellular pathways on complex patient profiles to identify exploitable targets. Inclusion of treatment and outcome data can demonstrate the influence of genetics on a patient journey. Citation Format: Tincy Simon, Rob Oliver, Robyn Harrell, Paul Conkling, Emily Paul. Examination of variants of unknown significance (VUSs) and co-occurring mutations from comprehensive genomic profiling (CGP) results in a cross tumor model [abstract]. In: Proceedings of the American Association for Cancer Research Annual Meeting 2024; Part 1 (Regular Abstracts); 2024 Apr 5-10; San Diego, CA. Philadelphia (PA): AACR; Cancer Res 2024;84(6_Suppl):Abstract nr 1774.

Abstract 7002: RNA m6A modification and lung cancer risk: An epitranscriptome-wide association study

Abstract N6-Methyladenosine (m6A), the most prevalent epitranscriptomic modification in eukaryotic mRNA, determines the fate of target RNAs. Key m6A regulators have been elucidated to be essential for lung cancer cell proliferation. However, the relationship between individual m6A markers and lung cancer risk remains inadequately explored. We conducted an epitranscriptome-wide association study (EpiTWAS) to investigate genetically predicted m6A in association with lung cancer risk. Genetic and m6A data of 30 lung, 12 heart, 28 muscle, and 50 brain tissues from 87 donors predominantly of European ancestry were obtained from Genotype-Tissue Expression (GTEx). For each m6A marker, we built a single-tissue model via elastic net, focusing on lung tissue, and a cross-tissue model through the unified test for molecular signatures (UTMOST) approach, capturing genetic influences on m6A shared by lung and other tissues. SPrediXcan was used to apply these models to data of genome-wide association studies (GWAS) among 38,422 lung cancer cases and 677,930 controls of European descent from International Lung Cancer Consortium (ILCCO), UK Biobank, and FinnGen. For m6A markers significantly associated with lung cancer risk at false discovery rate (FDR)<0.05, we assessed the differential expression of proteins encoded by their target mRNAs in lung cancer versus adjacent normal tissues (200 pairs), using data from Clinical Proteomic Tumor Analysis Consortium (CPTAC). Of the 38,841 high-quality m6A markers in 11,715 genes analyzed, prediction models were built for 6,809 m6A markers in 4,548 genes with performance of R>0.1 (P<0.05), ~85.2% (5,801) of which were single-tissue models. Among these, 28 m6A markers in 26 genes were significantly associated with overall lung cancer risk (FDR<0.05). Notably, 12 (~43%) of these markers in 12 loci are >2 megabases away from any of GWAS-identified lung cancer risk variants. When conditioning on nearby GWAS signals, these 12 associations did not change materially, whereas 15 of the remaining 16 associations lost statistical significance. Analyses by lung cancer histology and smoking status revealed no significant heterogeneity among the 28 associations but identified eight additional m6A markers significantly (FDR<0.05) associated with the risk of adenocarcinoma (n=2), squamous cell carcinoma (n=3), and overall lung cancer among ever- (n=2) or never-smokers (n=1). Of the 33 target RNAs of those 36 m6A markers, 30 encode proteins and 22 of these proteins displayed a significant tumor-normal differential expression at fold change >1.5 and FDR<0.05 in CPTAC lung tissue data. Our study demonstrates the ability of EpiTWAS to decipher GWAS loci and uncover signals potentially missed by GWAS. Our results imply that certain m6A markers may impact lung cancer risk by modulating mRNA translation, underscoring the need for further research to fully unravel the role of m6A in lung cancer etiology. Citation Format: Yaohua Yang, Yaxin Chen, Yawen Qi, Hongmo Liu, Guochong Jia, Jie Ping, Xiao-Ou Shu, Wei Zheng, Weimin Li, Jirong Long, Qiuyin Cai. RNA m6A modification and lung cancer risk: An epitranscriptome-wide association study [abstract]. In: Proceedings of the American Association for Cancer Research Annual Meeting 2024; Part 1 (Regular Abstracts); 2024 Apr 5-10; San Diego, CA. Philadelphia (PA): AACR; Cancer Res 2024;84(6_Suppl):Abstract nr 7002.

Investigating the interplay between AMH gene polymorphism rs10407022 and clinical indicators in polycystic ovary syndrome

PurposePCOS is a multifaceted endocrine disorder with a complex etiology that includes genetic and environmental influences. The Anti-Mullerian Hormone is essential in menstrual disorders and fertility, as it is involved in growth differentiation and folliculogenesis. The AMH gene polymorphism, specifically p.Ile49Ser, has been proposed to play a role in the pathogenesis of PCOS, but its significance in Indian populations has yet to be determined. MethodsA case-control study was carried out on 129 women from Gujarat, India, aged 13 to 40 years (59 with PCOS and 70 controls). Clinical, biochemical, and hormonal parameters were examined, and tetra-ARMS PCR was used for genotyping the AMH gene polymorphism (p.Ile49Ser). The relationships between polymorphism, hormonal imbalances, and PCOS were studied using different statistical methods. ResultsThe mean BMI in the PCOS group was significantly higher (27.32 ± 5.71) in comparison to the control group (23.81 ± 5.47, p = 0.001), with 67.80% of PCOS cases being obese. Notably, serum LH and T levels were significantly higher in PCOS women, whereas DHEAS levels were significantly lower (p < 0.05). However, the distribution of AMH gene rs10407022 genotypes and alleles did not differ significantly between groups, and no associations with PCOS risk were found. ConclusionObesity and hormonal imbalances have a significant impact on PCOS in Gujarati women, according to this study. Even though the AMH gene polymorphism (p.Ile49Ser) did not show a significant association with PCOS, the findings encourage further genetic research in diverse Indian populations to uncover the complex genetic background of PCOS.

Clinical features, polysomnography, and genetics association study of restless legs syndrome in clinic based Chinese patients: A multicenter observational study

Study objectivesTo systemically describe the clinical features, polysomnography (PSG) finding, laboratory tests and single-nucleotide polymorphisms (SNPs) in a clinic based Chinese primary restless legs syndrome (RLS) population. MethodsThis observational study, conducted from January 2020 to October 2021 across 22 sleep labs in China, recruited 771 patients diagnosed with RLS following the 2014 RLSSG criteria. Clinical data, PSG testing, and laboratory examination and SNPs of patients with RLS were collected. A total of 32 SNPs in 24 loci were replicated using the Asian Screening Array chip, employing data from the Han Chinese Genomes Initiative as controls. ResultsIn this study with 771 RLS patients, 645 had primary RLS, and 617 has DNA available for SNP study. Among the 645 primary RLS, 59.7% were women. 33% had a family history of RLS, with stronger familial influence in early-onset cases. Clinical evaluations showed 10.4% had discomfort in body parts other than legs. PSG showed that 57.1% of RLS patients had periodic leg movement index (PLMI) of >5/h and 39.1% had PLMI >15/h, respectively; 73.8% of RLS patients had an Apnea-Hypopnea Index (AHI) > 5/h, and 45.3% had an AHI >15/h. The laboratory examinations revealed serum ferritin levels <75 ng/ml in 31.6%, and transferrin saturation (TSAT) of <45% in 88.7% of RLS patients. Seven new SNPs in 5 genes showed a significant allelic association with Chinese primary RLS, with one previously reported (BTBD9) and four new findings (TOX3, PRMT6, DCDC2C, NOS1). ConclusionsChinese RLS patients has specific characters in many aspects. A high family history with RLS not only indicates strong genetic influence, but also reminds us to consider the familial effect in the epidemiological study. Newly developed sequencing technique with large samples remains to be done.

Genetic confounding in the association of early motor development with childhood and adolescent exercise behavior

IntroductionEarly motor development has been found to be a predictor of exercise behavior in children and adolescents, but whether this reflects a causal effect or confounding by genetic or shared environmental factors remains to be established.MethodsFor 20,911 complete twin pairs from the Netherlands Twin Register a motor development score was obtained from maternal reports on the timing of five motor milestones. During a 12-year follow-up, subsamples of the mothers reported on the twins’ ability to perform seven gross motor skills ability (N = 17,189 pairs), and weekly minutes of total metabolic equivalents of task (MET) spent on sports and exercise activities at age 7 (N = 3632 pairs), age 10 (N = 3735 pairs), age 12 (N = 7043 pairs), and age 14 (N = 3990 pairs). Multivariate phenotypic and genetic regression analyses were used to establish the predictive strength of the two motor development traits for future exercise behavior, the contribution of genetic and shared environmental factors to the variance in all traits, and the contribution of familial confounding to the phenotypic prediction.ResultsSignificant heritability (h2) and shared environmental (c2) effects were found for early motor development in boys and girls (h2 = 43-65%; c2 = 16-48%). For exercise behavior, genetic influences increased with age (boys: h2age7 = 22% to h2age14 = 51%; girls: h2age7 = 3% to h2age14 = 18%) paired to a parallel decrease in the influence of the shared environment (boys: c2age7 = 68% to c2age14 = 19%; girls: c2age7 = 80% to c2age14 = 48%). Early motor development explained 4.3% (p < 0.001) of the variance in future exercise behavior in boys but only 1.9% (p < 0.001) in girls. If the effect in boys was due to a causal effect of motor development on exercise behavior, all of the factors influencing motor development would, through the causal chain, also influence future exercise behavior. Instead, only the genetic parts of the regression of exercise behavior on motor development were significant. Shared and unique environmental parts of the regression were largely non-significant, which is at odds with the causal hypothesis.ConclusionNo support was found for a direct causal effect in the association between rapid early motor development on future exercise behavior. In boys, early motor development appears to be an expression of the same genetic factors that underlie the heritability of childhood and early adolescent exercise behavior.

Metabolic Dysfunction-Associated Steatohepatitis and Progression to Hepatocellular Carcinoma: A Literature Review.

The prevalence of metabolic-associated fatty liver disease (MAFLD) is increasing globally due to factors such as urbanization, obesity, poor nutrition, sedentary lifestyles, healthcare accessibility, diagnostic advancements, and genetic influences. Research on MAFLD and HCC risk factors, pathogenesis, and biomarkers has been conducted through a narrative review of relevant studies, with a focus on PubMed and Web of Science databases and exclusion criteria based on article availability and language. Steatosis marks the early stage of MASH advancement, commonly associated with factors of metabolic syndrome such as obesity and type 2 diabetes. Various mechanisms, including heightened lipolysis, hepatic lipogenesis, and consumption of high-calorie diets, contribute to the accumulation of lipids in the liver. Insulin resistance is pivotal in the development of steatosis, as it leads to the release of free fatty acids from adipose tissue. Natural compounds hold promise in regulating lipid metabolism and inflammation to combat these conditions. Liver fibrosis serves as a significant predictor of MASH progression and HCC development, underscoring the need to target fibrosis in treatment approaches. Risk factors for MASH-associated HCC encompass advanced liver fibrosis, older age, male gender, metabolic syndrome, genetic predispositions, and dietary habits, emphasizing the requirement for efficient surveillance and diagnostic measures. Considering these factors, it is important for further studies to determine the biochemical impact of these risk factors in order to establish targeted therapies that can prevent the development of HCC or reduce progression of MASH, indirectly decreasing the risk of HCC.

Climate change and broiler production.

Climate change has emerged as a significant occurrence that adversely affects broiler production, especially in tropical climates. Broiler chickens, bred for rapid growth and high meat production, rely heavily on optimal environmental conditions to achieve their genetic potential. However, climate change disrupts these conditions and poses numerous challenges for broiler production. One of the primary impacts of climate change on broiler production is the decreased ability of birds to attain their genetic potential for faster growth. Broilers are bred to possess specific genetic traits that enable them to grow rapidly and efficiently convert feed into meat. However, in tropical climates affected by climate change, the consequent rise in daily temperatures, increased humidity and altered precipitation patterns create an unfavourable environment for broilers. These conditions impede their growth and development, preventing them from reaching their maximum genetic influence, which is crucial for achieving desirable production outcomes. Furthermore, climate change exacerbates the existing challenges faced by broiler production systems. Higher feed costs impact the industry's economic viability and limit the availability of quality nutrition for the birds, further hampering their growth potential. In addition to feed scarcity, climate change also predisposes broiler chickens to thermal stress. This review collates existing information on climate change and its impact on broiler production, including nutrition, immune function, health and disease susceptibility. It also summarizes the challenges of broiler production under hot and humid climate conditions with different approaches to ameliorating the effects of harsh climatic conditions in poultry.

Long-read sequencing provides insights into genetic influence.

Long-read sequencing provides insights into genetic influence.

Genetics of environmental sensitivity and its association with variations in emotional problems, autistic traits, and wellbeing.

Greater environmental sensitivity has been associated with increased risk of mental health problems, especially in response to stressors, and lower levels of subjective wellbeing. Conversely, sensitivity also correlates with lower risk of emotional problems in the absence of adversity, and in response to positive environmental influences. Additionally, sensitivity has been found to correlate positively with autistic traits. Individual differences in environmental sensitivity are partly heritable, but it is unknown to what extent the aetiological factors underlying sensitivity overlap with those on emotional problems (anxiety and depressive symptoms), autistic traits and wellbeing. The current study used multivariate twin models and data on sensitivity, emotional problems, autistic traits, and several indices of psychological and subjective wellbeing, from over 2800 adolescent twins in England and Wales. We found that greater overall sensitivity correlated with greater emotional problems, autistic traits, and lower subjective wellbeing. A similar pattern of correlations was found for the Excitation and Sensory factors of sensitivity, but, in contrast, the Aesthetic factor was positively correlated with psychological wellbeing, though not with emotional problems nor autistic traits. The observed correlations were largely due to overlapping genetic influences. Importantly, genetic influences underlying sensitivity explained between 2 and 12% of the variations in emotional problems, autistic traits, and subjective wellbeing, independent of trait-specific or overlapping genetic influences. These findings encourage incorporating the genetics of environmental sensitivity in future genomic studies aiming to delineate the heterogeneity in emotional problems, autistic traits, and wellbeing.

How Do Genetic and Environmental Factors Influence Cardiometabolic Risk Factors? Findings from the Isfahan Twins Study

Background: Disease-discordant twins are excellent subjects for matched case-control studies as they allow for the control of confounding factors such as age, gender, genetic background, and intrauterine and early environment factors. Study design: A cross-sectional study. Methods: Past medical history documentation and physical examination were conducted for all participants. Fasting venous blood samples were taken to measure fasting blood glucose (FBG) and lipid levels. The ACE model, a structural equation model, was used to assess heritability. Results: This study included 710 twin pairs (210 monozygotic and 500 dizygotic) ranging in age from 2 to 52 years (mean age: 11.67±10.71 years). The study was conducted using participants from the Isfahan Twin Registry (ITR) in 2017. Results showed that in early childhood (2-6 years), height, weight, and body mass index (BMI) were influenced by shared environmental factors (76%, 75%, and 73%, respectively). In late childhood (7-12 years), hip circumference, waist circumference (WC), and low-density lipoprotein (LDL) cholesterol were found to be highly heritable (90%, 76%, and 64%, respectively). In adolescents, height (94%), neck circumference (85%), LDL-cholesterol (81%), WC (70%), triglycerides (69%), weight (68%), and BMI (65%) were all found to be highly or moderately heritable. In adult twins, arm circumference (97%), weight (86%), BMI (82%), and neck circumference (81%) were highly heritable. Conclusion: This study demonstrates that both genetic and environmental factors play a role in influencing individuals at different stages of their lives. Notably, while certain traits such as obesity have a high heritability during childhood, their heritability tends to decrease as individuals transition into adulthood.

Role of Mitochondrial Dysfunction in Related Diseases-A Review

Background: Mitochondrial dysfunction (MD) is increasingly recognized for its role in a wide array of diseases, extending beyond primary mitochondrial diseases (PMDs) to include secondary mitochondrial diseases (SMDs) and a broad spectrum of neurodegenerative, cardiovascular, metabolic, and oncological disorders. This growing awareness underscores the need for a comprehensive review of the mechanisms underlying MD, its clinical implications, and emerging therapeutic strategies. Objective: To synthesize current knowledge on the pathogenesis of diseases associated with MD, delineate the distinction between PMDs and SMDs, explore the genetic and environmental factors contributing to MD, and assess the potential of novel therapeutic approaches targeting mitochondrial dysfunction. Methods: A narrative review was conducted through a structured search of PubMed, Scopus, Web of Science, and Google Scholar, focusing on articles published up to April 2023. Keywords related to mitochondrial dysfunction and its implications across various diseases were used to identify relevant studies. Inclusion criteria targeted original research, reviews, and meta-analyses published in English that contributed to understanding MD's role in disease pathogenesis and treatment. Data extraction and synthesis were performed to highlight key findings, mechanisms, and therapeutic strategies. Results: The review emphasizes the critical role of mitochondrial dysfunction in the pathogenesis of a wide range of diseases. It identifies specific mtDNA mutations contributing to PMDs and highlights how SMDs arise from mitochondrial impairment secondary to other conditions. The synthesis of findings points to oxidative stress, impaired ATP production, and altered mitochondrial dynamics as central to MD's impact on cellular and systemic health. Additionally, the review explores emerging therapies, including mitochondrial-targeted antioxidants, gene therapy, and metabolic interventions, underscoring their potential in managing MD-related diseases. Conclusion: Mitochondrial dysfunction is a pivotal factor in the etiology of numerous diseases, with genetic mutations and environmental influences contributing to its development and progression. Understanding these complex mechanisms is essential for devising effective therapeutic interventions. While significant advances have been made, further research is needed to fully exploit the therapeutic potential of targeting mitochondrial dysfunction.

The longitudinal relationship between life events and loneliness in adolescence: A twin study.

The aim of the study was to examine associations between life events and self-assessed loneliness in adolescence. We used data from a Norwegian population-based twin sample including seven birth cohorts (N = 2,879, 56% females). The participants completed self-report questionnaires three times throughout adolescence, with 2 years in between (i.e., 12-18 years old at Wave 1). By using a random intercept cross-lagged panel model (RI-CLPM), we were able to separate stable influences in the measured constructs from the within-person changes at each measurement occasion. In addition, using data from twins allowed us to examine to what degree the associations between life events and loneliness were genetic and/or environmental in nature. The results showed moderate stability of both loneliness and aggregation scores of life events throughout adolescence. The life events were assigned to clusters based on their independence (i.e., events considered dependent or independent on a person's behavior) and desirability (i.e., positive or negative). The time-stable between-person variance in all three measures, loneliness and person-dependent positive and negative life events, could almost exclusively be accounted for by genetic factors. However, as expected, also shared environmental factors influenced person-independent life events. The associations between time-stable between-person variance in loneliness and life events were small, and nearly exclusively due to shared genetic influences. Furthermore, life events do not seem to predict changes in loneliness or vice versa. In conclusion, the self-reported levels of loneliness throughout adolescence seems to be independent of life events. (PsycInfo Database Record (c) 2024 APA, all rights reserved).

The Art and Science of Flavour: A Journey through Aromas in Horticultural Crops

The abstract delves into the intricate realm of flavour in horticultural crops, blending art and science in a captivating journey through sensory experiences. It explores the multifaceted nature of aromas, tracing their origins from the soil to the table. Through a combination of chemical analysis, sensory evaluation, and cultural context, this exploration unveils the diverse array of flavors found within horticultural crops. From the subtle nuances of floral notes to the robust profiles of fruits and vegetables, each aroma tells a story of genetic heritage, environmental influences, and culinary traditions. By understanding the factors that shape flavor development, horticulturists, chefs, and consumers alike can deepen their appreciation for the bounty of nature’s offerings. This abstract invites readers to embark on a sensory adventure, where the artistry of flavor meets the precision of scientific inquiry, illuminating the beauty and complexity of horticultural crops.

Comorbidity Between Internalizing Symptoms and Disordered Eating Is Primarily Driven by Genetic Influences on Emotion Regulation in Adult Female Twins

Internalizing (e.g., anxiety, depression) and disordered eating (DE; e.g., binge eating, dietary restraint) are highly comorbid, but the mechanisms underlying their comorbidity remain unknown. This was the first twin study to examine whether their co-occurrence may be driven by genetic and/or environmental influences on emotion regulation (ER; ability to modulate duration/intensity of emotions). Analyses included 688 adult female twins from the Michigan State University Twin Registry. Cholesky decomposition twin models showed that comorbidity between dimensionally modeled internalizing and DE was due to overlapping genetic ( r = .55; 69.3% of shared variance) and nonshared environmental influences ( r = .26; 30.7% of shared variance). When ER was added into the model, all genetic influences shared between internalizing and DE were attributable to ER, suggesting genetic influences on ER are the primary driver of comorbidity between internalizing and DE. Shared genes may shape affective processing, interoceptive sensitivity, or other brain-based processes (e.g., cognitive control) implicated in ER.

Diagnostic challenges of recurrent malaria in non-endemic areas†.

In Spain, a patient’s unexpected relapse with Plasmodium falciparum raises questions about genetic influences on treatment efficacy. Meanwhile, in a separate case, a recurrence of Plasmodium malariae prompts speculation on latent reservoirs and treatment strategies. Here, we delve into these complex cases that underscore the evolving landscape of malaria.

An Updated Overview of Risk Factors for Shoulder Stiffness.

A painful reduction in shoulder mobility, known as "shoulder stiffness", can occur both as a primary idiopathic condition and as a secondary condition, for example, following surgical procedures. Various factors can contribute to the development of primary shoulder stiffness. In this review we summarize the pathophysiological mechanisms, genetic influences, endocrine disorders, metabolic conditions, as well as other diseases and medical-therapeutic approaches that might have an impact on the development of primary shoulder stiffness.

Gene-environment transactions between peer cigarette use, parental supervision, and Chinese adolescent cigarette smoking initiation.

The initiation and continued use of tobacco products constitute an ongoing source of preventable disease that continues to pose a significant risk to global adolescent health. Scarce research has sought to explore the influences of two well-known environmental risk factors, parental supervision and peer cigarette use, on genetic and environmental contributions to adolescent cigarette use, especially in non-Western populations. Following 602 Chinese twin pairs (52% female, N = 1204) from early to middle adolescence at two-time points (Mage = 12 and 15) from 2006 to 2009 and using multivariate biometric modeling, this study examined gene-environment interplay (i.e., gene-environment correlation and interaction) between perceived parental supervision, peer cigarette use, and adolescent cigarette smoking initiation. From early to middle adolescence, genetic influences on cigarette smoking initiation became more pronounced, whereas shared environmental influences that promote similarity between family members diminished. Genetic factors primarily explained the links between parental supervision and cigarette smoking initiation in mid-adolescence. Peer cigarette use displayed stronger associations with and moderating potential in adolescent cigarette smoking initiation than parental supervision. High levels of peer cigarette use amplified genetic risk for cigarette smoking initiation in mid-adolescence. Chinese adolescent cigarette smoking initiation involves dynamic gene-environment transactions primarily with peer processes over development. Mid-adolescence constitutes a developmental period wherein underlying genetic risk for cigarette smoking initiation is particularly sensitive to peer influences. Targeted interventions aimed at reducing Chinese adolescent cigarette smoking initiation should focus on peer processes during this developmental period.

Influence of Nutrition and Genetics on Bone Parameters of 1940 Leghorn and 2016 Commercial White Leghorns

Bones play an essential role being responsible for the support of body mass, protection of internal organs, and providing musculature attachment sites while also serving as a reservoir for eggshell mineralization during the production phase. Targeted genetic selection has contributed to body morphometry and performance potential and could be inadvertently associated with undesirable effects on bone stability. In this study, bone parameters were compared between a contemporary and heritage line for the effect of strain and dietary regimen. A total of 320 White Leghorn laying hens (69 weeks of age) of two different strains were distributed into a 2 × 2 factorial arrangement creating 4 experimental treatment groups: 1). 2016 hen on 1940 diet, 2). 2016 hen on 2016 diet, 3). 1940 hen on 1940 diet, and 4). 1940 hen on 2016 diet with 8 replicates per treatment. Keel bones were assessed for deviations and or fractures. Significant differences (P ≥ 0.05) were observed for both deviations and/or fractures with the 2016 strain having more when compared to the 1940 strain. Humerus and tibia bones were analyzed for bone mineral density, breaking strength, and bone ash. Humerus and tibia weights which included both pre (with meat attached) and post weights (without meat attached) had significant differences (P ≤ 0.05) in the pre-weight in the 2016 hens, however no significant differences in the post weights. Results suggest that genetics played a role in the differences observed with the bone parameters measured and nutrition had few adverse effects.