Contribution Of Environmental Factors Research Articles

Genetic and environmental contributions to the development of soft tissue facial profile: a twin study.

This study aimed to determine the relative contribution of genetic and environmental factors in the phenotypic variation of the soft tissue facial profile during the mixed dentition and the permanent dentition stages. In this retrospective cohort study, standardized facial profile photographs of 139 twin pairs (55 monozygotic and 84 dizygotic) were obtained from archival records at the Adelaide Dental School. Photographic analysis used 12 angular and 14 linear facial profile measurements from the mixed dentition (7-11 years) to the permanent dentition (12-17 years) stages. A genetic analysis was performed using a univariate structural equation model adhering to the normal assumptions of a twin model. In the mixed dentition stage, the additive genetic (A) and unique environment (E) model, AE model, was the most parsimonious in explaining the observed phenotypic variance for all 26 facial traits with the narrow-sense heritability estimates ranging between 0.38 and 0.79. In the permanent dentition, the AE model was the most parsimonious for 20 out of 26 traits, however, the variance of six traits, particularly those in the lower third of the face, was best explained by the shared environmental and unique environmental factors. This study exclusively included twins of European ancestry. The soft tissue facial profile demonstrated dynamic genetic and environmental influences with a greater additive genetic influence during the mixed dentition and the early stages of the permanent dentition. However, there was evidence of increasing environmental influence in the lower third of the face during the early stages of the permanent dentition.

Exploration of Geographical Environmental Factors Influencing Regional Population Mortality Patterns inChina.

The regional population mortality patterns in China exhibit substantial geographical distribution characteristics. This paper aims to explore the impact and mechanisms of geographical environmental factors on regional population mortality patterns. This study first utilized the data from China's Seventh Population Census to obtain mortality patterns for the 31 provincial-level administrative regions. Subsequently, a functional regression method was employed to explore the geographical environmental driving factors of regional mortality patterns. The study provides a detailed explanation of the mechanisms and marginal contributions of key geographical environmental factors at different age groups. (1) The impact of geographical environmental factors on mortality patterns shows distinct phased characteristics. Mortality patterns before the age of 40 years are hardly influenced by geographical environmental factors, with a noticeable impact beginning at ages 40-69 years and reaching the maximum influence after the age of 70 years. (2) In mortality patterns at ages 40-69 years, average altitude have the most substantial impact, followed by extreme low-temperature days and PM2.5 concentration. In mortality patterns at ages 70-94 years, high-temperature days have the greatest influence, followed by the impact of SO2 concentration. (3) In comparisons based on gender, socioeconomic factors, and geographical environmental factors, gender and urban-rural differences have the most significant impact on regional population mortality patterns, followed by the influence of other socioeconomic factors, with geographical environmental factors having a relatively smaller impact.

Associations between long-term exposures to environmental factors and the development of amyotrophic lateral sclerosis: A matched case-control study

ObjectiveAmyotrophic lateral sclerosis (ALS) is a motor neuron disease in which the causes remain unclear, particularly the contribution of environmental factors. Thus, we created a multifactorial database to investigate the association between long-term exposure to urbanization, air pollution, water pollution, and the development of ALS. ApproachA matched case-control study was conducted in New Brunswick, Canada from January 2003 to February 2021. Study population included 304 ALS patients and 1207 controls with their historical postal codes from the New Brunswick Citizen Database linked to medical records and spatial environmental datasets from the Canadian Urban Environmental Heath Research Consortium. We compared their environmental exposures at place of residence prior to disease onset via conditional logistic regression models. ResultsOf the common air pollutants investigated, odds of ALS was significantly higher with increased SO2 exposure (OR = 4.369, 1.190-16.044 [95% CI], per 1 ppb increase of SO2) in adjusted models. No significant associations were observed for the investigated urbanization and water pollution-related exposures. ConclusionsThis is the first study to rigorously identify a potential environmental cause of ALS. Our findings suggest an association between long-term exposure to air pollutants, particularly SO2, and the development of ALS. Revision of SO2 emission regulations may be required. ImplicationsThe identification of SO2 exposure as an ALS environmental risk factor opens new prospects for identifying ALS therapeutic targets. Utilizing a similar data linking workflow to pre-existing disease registries found within data centres should be conducted to further investigate environmental influences on complex diseases.

Is the local environment more important than within-host interactions in determining coinfection?

Host populations often vary in the magnitude of coinfection they experience across environmental gradients. Furthermore, coinfection often occurs sequentially, with a second parasite infecting the host after the first has established a primary infection. Because the local environment and interactions between coinfecting parasites can both drive patterns of coinfection, it is important to disentangle the relative contributions of environmental factors and within-host interactions to patterns of coinfection. Here, we develop a conceptual framework and present an empirical case study to disentangle these facets of coinfection. Across multiple lakes, we surveyed populations of five damselfly (host) species and quantified primary parasitism by aquatic, ectoparasitic water mites and secondary parasitism by terrestrial, endoparasitic gregarines. We first asked if coinfection is predicted by abiotic and biotic factors within the local environment, finding that the probability of coinfection decreased for all host species as pH increased. We then asked if primary infection by aquatic water mites mediated the relationship between pH and secondary infection by terrestrial gregarines. Contrary to our expectations, we found no evidence for a water mite-mediated relationship between pH and gregarines. Instead, the intensity of gregarine infection correlated solely with the local environment, with the magnitude and direction of these relationships varying among environmental predictors. Our findings emphasize the role of the local environment in shaping infection dynamics that set the stage for coinfection. Although we did not detect within-host interactions, the approach herein can be applied to other systems to elucidate the nature of interactions between hosts and coinfecting parasites within complex ecological communities.

Two identical twin pairs discordant for longstanding anorexia nervosa and OSFED: lived experience accounts of eating disorder and recovery processes

Research into the risk of anorexia nervosa (AN) has examined twin pairs to further the understanding of the contributions of genetics, trait inheritance, and environmental factors to eating disorder (ED) development. Investigations of twin experiences of EDs have been biologically-based and have not considered the qualitative, phenomenological aspects of twin experiences. A gap in the literature exists regarding understanding of discordant twins with EDs. This research was developed in response, with the aim to deepen understanding of AN in discordant twins and to create novel ideas for further research and testing. The case studies presented in this article provide lived experience insights of two identical discordant twin pairs: one twin pair discordant for longstanding AN and one twin pair discordant for ‘atypical’ AN (the twin with AN has recovered). The perspectives and experiences of each co-twin (one with AN and one without) explore a number of factors that may have contributed to twin discordance in these cases, and how each twin has responded to the impact of AN in their lives. Through use of first-person accounts in case study presentation, this article centres social justice values of lived experience leadership and involvement in research. This article aims to extend current knowledge and understanding of EDs in discordant twins, particularly regarding risk for ED development, ED duration, diagnosis and treatment, and recovery processes.

232. EPIDEMIOLOGY OF EOSINOPHILIC ESOPHAGITIS IN JAPAN: A POPULATION-BASED STUDY

Abstract Backgrounds Eosinophilic esophagitis (EoE) has been increasingly diagnosed in Western countries whilst there have been few general population-based studies in Asia. In addition, risk factors for EoE have not been examined completely. The aim of the study was to investigate the epidemiology and risk factors of EoE in Japanese general population. Methods We analyzed an employer-based health insurance claim database from January 2005 to September 2022. EoE cases were identified based on the International Classification of Diseases-tenth Revision code, K20.0. We calculated the incidence and prevalence of EoE using Poisson regression and binomial distribution with exact methods respectively. Using 10 times more matched controls for EoE cases, a nested case-control study identified potential risk factors for adult EoE. Results Of 15,200,895 individuals, 1,010 EoE cases were identified. The incidence and prevalence of EoE were 2.82 (95% CI 2.44–3.26) per 100,000 person-years and 10.68 (95% CI 10.01–11.37) per 100,000 people in 2022. Both rates had dramatically increased since 2017. smoking was associated with a 59% risk reduction of EoE whereas constant alcohol consumption was associated with a 63% increase in the risk of EoE. EoE was not associated with either body mass index or health-related diseases such as hypertension, diabetes mellitus, hyperuricemia, and dyslipidemia. Conclusion The incidence and prevalence of EoE in Japan has steadily increased over the past two decades. Nevertheless, EoE remains less common in Japan compared to Western countries. Factors contributing to the epidemiology of EoE on a global basis may improve our understanding of the contribution of genetic and environmental risk factors. In light of potential risk factors, further study is warranted to investigate whether lifestyle intervention can improve the management of EoE.

Genetic and environmental impact on variation in the palatal dimensions in permanent dentition: a twin study.

The objective of this study was to assess the relative contributions of genetic and environmental factors to variation in palatal parameters in twins with completed maxillary growth. The subjects of this study comprised digital dental casts of 50 monozygotic and 35 dizygotic twin pairs. The subjects' average age was 17.95 ± 2.83years. Zygosity determination was carried out using 15 specific DNA markers and an amel fragment of the amelogenin gene. The interdental distances were measured between selected dental landmarks at the occlusal and gingival planes. The palatal height, surface area and volume were measured between the gingival plane and the midpalate suture. High heritability estimates were observed for all transverse intra-arch measurements. The palate height (a2 = 0.8), dental arch width in the molar area (a2 = 0.86), palatal surface area (a2 = 0.61) and palate volume (a2 = 0.69) were under strong additive genetic control. Moderate genetic dominance was observed for dental arch widths at the gingival line in the canine (d2 = 0.5) and premolar regions (d2 = 0.78-0.81). Sexual dimorphism was shown, with males exhibiting a greater arch width, palate surface area and volume than females (p < 0.01). The majority of palate parameters variation in twins was controlled by genetic effects, and most were highly heritable.

Exploring the response and prediction of phytoplankton to environmental factors in eutrophic marine areas using interpretable machine learning methods

Coastal marine areas are frequently affected by human activities and face ecological and environmental threats, such as algal blooms and climate change. The community structure of phytoplankton—primary producers in marine ecosystems—is highly sensitive to environmental factors, such as temperature, salinity, and nutrients. However, traditional methods for exploring the relationship between phytoplankton communities and environmental factors in eutrophic marine areas are limited by various factors. Therefore, this study employed interpretable machine learning models, integrating high-dimensional data analysis and complex system modeling, to quantitatively and thoroughly analyze the dynamic relationship between phytoplankton communities and environmental variables in high-frequency samples collected over 53 weeks from eutrophic marine areas. The cell abundance of phytoplankton exhibited a distinct “two-peak pattern” variation. Interpretable machine learning model analysis revealed the dynamic contributions of different environmental factors during changes in the phytoplankton community structure. The results showed that temperature was a key environmental factor that affected phytoplankton growth during peak periods. In addition, the contribution of salinity increased during the second peak in phytoplankton abundance, highlighting its central role in the ecological dynamics of this phase. During green tide outbreaks, particularly in Area 01, the contributions of factors such as temperature and salinity increased, whereas those of phosphates and silicates decreased, indicating that green tide outbreaks substantially altered the nutritional dynamics of the ecosystem. Furthermore, different phytoplankton species, such as Skeletonema costatum, Thalassiosira spp., and Nitzschia spp., exhibit varying responses to environmental factors. Hence, the predictions made using random forest and generalized additive models for phytoplankton cell abundance in two marine areas revealed complex nonlinear relationships between environmental factors, such as temperature, salinity, and phytoplankton abundance.

The Pathogenesis of Type 1 Diabetes.

Type 1 diabetes (T1D) is a chronic autoimmune disease with a metabolic outcome. Studies over the past decades, have identified the contributions of genetics, environmental factors, and disorders of innate and adaptive immunity that collectively cause β-cell killing. The risk for T1D can be genetically identified but genotypes alone do not identify factors that lead to disease progression. The incidence of T1D has been increasing in the past few decades, which may be due to reduced exposure to infections and other environmental factors that can reduce autoimmunity (hygiene hypothesis). Once initiated, the disease pathogenesis progresses through stages that have been defined on the bases of immunologic (i.e., autoantibodies) and metabolic markers (glucose tolerance). The stages only loosely capture the risk for the time to diagnosis of disease, do not directly reflect disease activity, and there may be variance in the rate of progression within stages. In a general way, the stages can be used to identify patients at risk in whom interventions may be considered to modulate progression. This was achieved with the approval of teplizumab, a humanized anti-CD3 monoclonal antibody, for delaying the diagnosis of T1D.

Plant economics spectrum governs leaf nitrogen and phosphorus resorption in subtropical transitional forests

BackgroundLeaf nitrogen (N) and phosphorus (P) resorption is a fundamental adaptation strategy for plant nutrient conservation. However, the relative roles that environmental factors and plant functional traits play in regulating N and P resorption remain largely unclear, and little is known about the underlying mechanism of plant functional traits affecting nutrient resorption. Here, we measured leaf N and P resorption and 13 plant functional traits of leaf, petiole, and twig for 101 representative broad-leaved tree species in our target subtropical transitional forests. We integrated these multiple functional traits into the plant economics spectrum (PES). We further explored whether and how elevation-related environmental factors and these functional traits collectively control leaf N and P resorption.ResultsWe found that deciduous and evergreen trees exhibited highly diversified PES strategies, tending to be acquisitive and conservative, respectively. The effects of PES, rather than of environmental factors, dominated leaf N and P resorption patterns along the elevational gradient. Specifically, the photosynthesis and nutrient recourse utilization axis positively affected N and P resorption for both deciduous and evergreen trees, whereas the structural and functional investment axis positively affected leaf N and P resorption for evergreen species only. Specific leaf area and green leaf nutrient concentrations were the most influential traits driving leaf N and P resorption.ConclusionsOur study simultaneously elucidated the relative contributions of environmental factors and plant functional traits to leaf N and P resorption by including more representative tree species than previous studies, expanding our understanding beyond the relatively well-studied tropical and temperate forests. We highlight that prioritizing the fundamental role of traits related to leaf resource capture and defense contributes to the monitoring and modeling of leaf nutrient resorption. Therefore, we need to integrate PES effects on leaf nutrient resorption into the current nutrient cycling model framework to better advance our general understanding of the consequences of shifting tree species composition for nutrient cycles across diverse forests.

Isotopic distribution of bioavailable Sr, Nd, and Pb in Chungcheongbuk-do Province, Korea

BackgroundMapping the distribution of bioavailable isotope ratios across landscapes serves as an efficient geochemical tool for delineating the origins and migration trajectories of humans and animals. Chungcheongbuk-do Province in central Korea, known for its geological diversity and inland location isolated from coastal influences, provides an ideal area to study the contributions of geological and environmental factors to the isotope landscape (isoscape). This study analyzed the distribution of bioavailable Sr, Nd, and Pb isotopes in the province using plant and soil data obtained in this study and from previous works.FindingsChungcheongbuk-do features diverse geological elements, including Precambrian basement, Paleozoic metasedimentary rocks, and Mesozoic granitoids and volcano-sedimentary sequences. The 87Sr/86Sr ratios of bulk soil samples from 44 sites primarily range from 0.781 to 0.706, with two ratios exceeding 0.9 originating from Precambrian basement and Cretaceous granitoid areas. Fractions of soils treated with 1 M ammonium nitrate and acetic acid exhibit indistinguishable 87Sr/86Sr ratios (R2 = 0.99, except for one point), spanning from 0.804 to 0.707. Plant 87Sr/86Sr ratios demonstrate a robust positive correlation with leachate ratios (for ammonium nitrate data, (87Sr/86Sr)plant = 0.938 × (87Sr/86Sr)leachate + 0.045, R2 = 0.98). The εNd values of bulk soils from Precambrian basement areas (–18 to –30) plot against Sm/Nd ratios around the reference line corresponding to 3 Ga, while other bulk soil samples (εNd = –1 to –21) align with a younger (~ 2 Ga) reference line. Plant εNd values, ranging from –4 to –24, exhibit a prominent positive correlation with ammonium nitrate leachates (plant εNd = 0.77 × leachate εNd – 3.83, R2 = 0.89). Plant samples do not show consistent variation between 87Sr/86Sr and εNd. The 206Pb/204Pb and 207Pb/204Pb ratios of bulk soils show a ~ 2 Ga trend, typical for Korean basement rocks. The Pb isotopic ratios of ammonium nitrate and acetic acid leachates match perfectly with each other (R2 = 0.99). The 206Pb/204Pb, 207Pb/204Pb, and 208Pb/204Pb ratios of plant samples vary narrowly (19.2–17.9; 15.8–15.5; 39.0–38.0) and are distinctly different from those of bulk soils (24.4–17.9; 16.5–15.6; 42.5–37.9) and their leachates (23.1–17.7; 16.2–15.6; 41.0–38.1). Plant and soil data from this study and previous works were used to construct Sr and Nd isoscapes, employing interpolation models based on inverse distance weighting, simple kriging, empirical Bayesian kriging, and geology and topography-considered empirical Bayesian kriging regression prediction. These maps await validation through analysis of additional archives.ConclusionsThe isotope data obtained in this study highlight a strong geological control over bioavailable Sr and Nd, in contrast to a dominant environmental influence on bioavailable Pb. The Sr and Nd isoscapes presented here are potentially valuable for addressing archaeological or forensic inquiries in their current state. Nevertheless, the maps would benefit from additional refinement with increased sample density and enhanced interpolation models.

Drought effects on litter fraction and recovery in a subtropical forest

Litter input is a critical link between the circulation and flows of energy and matter in forest ecosystems. Drought events impact litter inputs, affecting forest ecosystems’ nutrient and energy cycles. To investigate the response of litter production to extreme drought, explore their recovery mechanism, and the difference between whole year, concurrent drought, non-drought period, rainy season, and dry season. We studied an extreme drought event in a subtropical evergreen broadleaved forest in the Ailao Mountain in 2009–2010. We used 10 years (2005–2014) of monthly litter production and climate data, including monthly average precipitation (MAP), soil water content (SWC), and monthly average temperature (MAT). The observation period was separated into pre-drought (2005–2008), during-drought (2009–2010), and post-drought (2011–2014) periods. We found that annual total litter production decreased by 12 % during the drought (p < 0. 05), similar to that in the drought period. Leaf litter production increased by 1 % during drought time, and other fraction decreased obviously. The contribution of water environmental factors to litter production was more evident after drought events. MAT, MAP, and SWC jointly affect litter input under extreme drought conditions, and the dominant factor is related to litter fraction and drought periods. Water environmental factors (MAP & SWC) contributed to litter input after drought events, while MAT mainly affected litter input during the non-drought and rainy seasons. Due to the growth and nutritional strategies of each fraction, the recovery time is branch < leaf < flower & fruit < moss < bark. The results further reveal litter production response to drought events and the importance of water factors in recovery.

Shared whole environmental etiology between Alzheimer’s disease and age-related macular degeneration

The comorbidity of Alzheimer’s disease (AD) and age-related macular degeneration (AMD) has been established in clinical and genetic studies. There is growing interest in determining the shared environmental factors associated with both conditions. Recent advancements in record linkage techniques enable us to identify the contributing factors to AD and AMD from a wide range of variables. As such, we first constructed a knowledge graph based on the literature, which included all statistically significant risk factors for AD and AMD. An environment-wide association study (EWAS) was conducted to assess the contribution of various environmental factors to the comorbidity of AD and AMD based on the UK biobank. Based on the conditional Q-Q plots and Bayesian algorithm, several shared environmental factors were identified, which could be categorized into the domains of health condition, biological sample parameters, body index, and attendance availability. Finally, we generated a shared etiology landscape for AD and AMD by combining existing knowledge with our novel findings.

Copper-mediated neurotoxicity and genetic vulnerability in the background of neurodegenerative diseases in C. elegans.

The mechanisms associated with neurodegenerative diseases, such as Alzheimer's disease (AD) and Parkinson's disease (PD) have yet to be fully characterized, and genetic as well as environmental factors in their disease etiology are under appreciated. While mutations in genes such as PARKIN and LRRK2 have been linked to PD, the idiopathic component of the disease suggests a contribution of environmental risk factors, including metals, such as copper (Cu). Cu overexposure has been reported to cause oxidative stress and neurotoxicity, but its role in neurodegenerative diseases is rarely studied. Using Caenorhabditis elegans (C. elegans) as a model organism for neurotoxicity, we assessed the effects of Cu oversupply in AD and PD models. Our findings reveal that while copper treatment did not induce neurodegeneration in wildtype worms or the AD model, it significantly exacerbated neurodegeneration in the PD-associated mutants PARKIN and LRRK2. These results suggest that genetic predisposition for PD enhances the sensitivity to copper toxicity, highlighting the multifactorial nature of neurodegenerative diseases. Furthermore, our study provides insight into the mechanisms underlying Cu-induced neurotoxicity in PD models, including disruptions in dopamine levels, altered dopamine-dependent behavior and degraded dopaminergic neurons. Overall, our novel findings contribute to a better understanding of the complex interactions between genetic susceptibility, environmental factors, and neurodegenerative disease pathogenesis, emphasizing the importance of a tightly regulated Cu homeostasis in the etiology of PD.

High socioeconomic status is significantly associated with psoriasis: results from a cross-sectional, population-based study of 129,855 patients.

While the contribution of environmental factors including smoking, overweight and stress has been validated, data mining for the association between socioeconomic status (SES) and psoriasis prevalence has yielded contradicting observations. To evaluate the association between psoriasis prevalence and SES. This was a nationwide population-based cross-sectional retrospective study that included all patients insured by the "Clalit" Health Services (N=4,604,994). Univariable and multivariable logistic regression analyses were conducted to explore the association between psoriasis and SES while controlling for potential sociodemographic and clinical confounders. The study population included 129,855 patients with psoriasis and 4,475,139 individuals without psoriasis. Higher SES was associated with an increased prevalence of psoriasis; in a fully adjusted model, Clalit members within the highest SES were 1.43-fold more likely to have psoriasis (95% CI, 1.39-1.48; P< 0.001), and those at medium SES were 1.2-fold more likely to have psoriasis, compared to those at the lowest SES group (95% CI, 1.18-1.26; P< 0.001; P for linear trend <0.001). Positive correlation was found between SES and psoriasis prevalence. Further investigation is warranted to elucidate the factors accounting for this observation.

Classification of Suicide Attempt Risk Using Environmental and Lifestyle Factors in 3 Large Youth Cohorts

Suicide is the third-leading cause of death among US adolescents. Environmental and lifestyle factors influence suicidal behavior and can inform risk classification, yet quantifying and incorporating them in risk assessment presents a significant challenge for reproducibility and clinical translation. To quantify the aggregate contribution of environmental and lifestyle factors to youth suicide attempt risk classification. This was a cohort study in 3 youth samples: 2 national longitudinal cohorts from the US and the UK and 1 clinical cohort from a tertiary pediatric US hospital. An exposome-wide association study (ExWAS) approach was used to identify risk and protective factors and compute aggregate exposomic scores. Logistic regression models were applied to test associations and model fit of exposomic scores with suicide attempts in independent data. Youth from the Adolescent Brain Cognitive Development (ABCD) study, the UK Millennium Cohort Study (MCS), and the Children's Hospital of Philadelphia emergency department (CHOP-ED) were included in the study. A single-weighted exposomic score that sums significant risk and protective environmental/lifestyle factors. Self-reported suicide attempt. A total of 40 364 youth were included in this analysis: 11 564 from the ABCD study (3 waves of assessment; mean [SD] age, 12.0 [0.7] years; 6034 male [52.2%]; 344 attempted suicide [3.0%]; 1154 environmental/lifestyle factors were included in the ABCD study), 9000 from the MCS cohort (mean [SD] age, 17.2 [0.3] years; 4593 female [51.0%]; 661 attempted suicide [7.3%]; 2864 environmental/lifestyle factors were included in the MCS cohort), and 19 800 from the CHOP-ED cohort (mean [SD] age, 15.3 [1.5] years; 12 937 female [65.3%]; 2051 attempted suicide [10.4%]; 36 environmental/lifestyle factors were included in the CHOP-ED cohort). In the ABCD discovery subsample, ExWAS identified 99 risk and protective exposures significantly associated with suicide attempt. A single weighted exposomic score that sums significant risk and protective exposures was associated with suicide attempt in an independent ABCD testing subsample (odds ratio [OR], 2.2; 95% CI, 2.0-2.6; P < .001) and explained 17.6% of the variance (based on regression pseudo-R2) in suicide attempt over and above that explained by age, sex, race, and ethnicity (2.8%) and by family history of suicide (6.3%). Findings were consistent in the MCS and CHOP-ED cohorts (explaining 22.6% and 19.3% of the variance in suicide attempt, respectively) despite clinical, demographic, and exposure differences. In all cohorts, compared with youth at the median quintile of the exposomic score, youth at the top fifth quintile were substantially more likely to have made a suicide attempt (OR, 4.3; 95% CI, 2.6-7.2 in the ABCD study; OR, 3.8; 95% CI, 2.7-5.3 in the MCS cohort; OR, 5.8; 95% CI, 4.7-7.1 in the CHOP-ED cohort). Results suggest that exposomic scores of suicide attempt provided a generalizable method for risk classification that can be applied in diverse samples from clinical or population settings.

Environmental and genetic drivers of physiological and functional traits in a key canopy species

The resilience of forests worldwide is challenged by climate change. Large-scale tree mortality and dieback events have been documented across continents in recent decades. The adaptive capacity of forests is important for predicting forest resistance and resilience to future climates yet remains largely unknown. We grew 12 populations of a widespread foundation tree species (Corymbia calophylla), originating from different temperature and rainfall regimes, in two common garden trials in Western Australia that had similar temperature but contrasting rainfall conditions. We quantified intraspecific trait variation at these two sites to estimate genetically determined trait variation with climate origin (genetic adaptation) and trait variation associated with environment (phenotypic plasticity). We aimed to determine the 1) contribution of genetic and environmental factors on growth, functional, and physiological trait variation; 2) coordination of leaf traits within the context of the leaf economic spectrum (LES) in variable rainfall conditions; and 3) role of local or regional climate adaptation influencing tree growth and water use efficiency. Growth and physiological traits were differentially expressed across populations and sites, highlighting the importance of genetic adaptation and phenotypic plasticity. Leaf traits reflected a more water conservative strategy with higher water use efficiency, high foliar nitrogen content, and low specific leaf area, as predicted by the LES, in trees at the dry site measured in autumn after the warm summer. Local adaptation was detected in growth and leaf water use efficiency traits at the regional climate, not the local population, scale. Plants from the cool region had greater performance than those from the warm region in most plant traits. Home-site rainfall was not a good predictor of trait expression. The capacity of C. calophylla to respond to low water availability through genetic adaptation and phenotypic plasticity may enable it to maintain optimal performance in drier conditions associated with climate change.

Testing the evolutionary potential of an alpine plant: phenotypic plasticity in response to growth temperature outweighs parental environmental effects and other genetic causes of variation

Abstract Phenotypic plasticity and rapid evolution are fundamental processes by which organisms can maintain their function and fitness in the face of environmental changes. Here we quantified the plasticity and evolutionary potential of an alpine herb Wahlenbergia ceracea. Utilizing its mixed-mating system, we generated outcrossed and self-pollinated families that were grown in either cool or warm environments, and that had parents that had also been grown in either cool or warm environments. We then analysed the contribution of environmental and genetic factors to variation in a range of phenotypic traits including phenology, leaf mass per area, photosynthetic function, thermal tolerance, and reproductive fitness. The strongest effect was that of current growth temperature, indicating strong phenotypic plasticity. All traits except thermal tolerance were plastic, whereby warm-grown plants flowered earlier, grew larger, and produced more reproductive stems compared with cool-grown plants. Flowering onset and biomass were heritable and under selection, with early flowering and larger plants having higher relative fitness. There was little evidence for transgenerational plasticity, maternal effects, or genotype×environment interactions. Inbreeding delayed flowering and reduced reproductive fitness and biomass. Overall, we found that W. ceracea has the capacity to respond rapidly to climate warming via plasticity, and the potential for evolutionary change.

The joint effects of local, climatic, and spatial variables determine soil oribatid mite community assembly along a temperate forest elevational gradient.

Numerous factors influence mountain biodiversity variation across elevational gradients and recognizing the relative importance is vital for understanding species distribution mechanisms. We examined oribatid mites at nine elevations (from 600 to 2200 m a.s.l) and four vegetation types from mixed coniferous and broad-leaved forests to alpine tundra on Changbai Mountain. We assessed the contribution of environmental factors (climatic and local factors) and spatial processes (geographic or elevation distances) to oribatid mite community assembly and identified 59 oribatid mite species from 38 families and 51 genera. With increasing elevation, species richness and the Shannon index declined significantly, whereas abundance followed a hump-shaped trend. Soil TP, NH4 +-N, MAT, MAP, and elevation were the critical variables shaping oribatid mite communities based on random forest analysis. Moreover, environmental and spatial factors, and oribatid mite communities were significantly correlated based on Mantel and partial Mantel tests. Local characteristics (3.9%), climatic factors (1.9%), and spatial filtering (8.8%) played crucial roles in determining oribatid mite communities across nine elevational bands (based on variation partitioning analyses of abundance data). Within the same vegetation types, spatial processes had relatively little effects, with local characteristics the dominant drivers of oribatid mite community variation. Environmental and spatial filters together shape oribatid mite community assembly and their relative roles varied with elevation and vegetation type. These findings are crucial for the conservation, restoration, and management of Changbai mountain ecosystems in the context of climate change, along with the prediction of future vertical biotic gradient pattern evolution.

A modern view of the role of genetic factors in the etiopathogenesis of breast cancer

The aim of this review is to summarize current understandings of the genetic risk factors for the development of breast cancer (BC), evaluate the role of germline mutations and single nucleotide polymorphisms associated with the disease, based on genome-wide association studies (GWAS) and other associative studies. The search for relevant sources was conducted in PubMed, Medline, Cochrane Library, eLIBRARY, and the NHGRI-EBI Catalog of GWAS. The analysis includes works published from January 2007 to December 2022. A total of 197 sources focused on the role of genetic factors in the development of BC were found. Search queries included data on associations of various molecular-genetic markers – germline mutations, and single nucleotide polymorphisms – with the formation of BC. From this body of work, 45 studies were included in the current review. The inclusion criterion for the analysis wasthe presence of GWAS data and associative studies conducted among patients with representative samples with the necessary power. Additionally, results characterizing the clinical-pathological significance (association with molecular subtypes of BC, therapy features, disease prognosis) of BC genetic factors were evaluated. Excluded from the analysis were data from associative studies of candidate genes for malignant breast neoplasms that are morphologically not carcinomas, performed on small (non-representative) patient samples and control groups. Mutations in genes with high and moderate penetrance (BRCA1/2, CHEK2, PALB2, etc.) are associated with the onset of BC in 5 % of cases. Among families with two or more members affected by BC, their share reaches only 30–40 %. GWAS data revealed the role of more than 180 polymorphic loci associated with BC, which determine a heritability rate of about 18 %. According to twin studies, this rate is 1.7 times higher, reaching 31 %. Meanwhile, the contribution of environmental factors is no more than 16 %. The proportion of unidentified hereditary factors in BC formation is about 8 %. However, contemporary studies of associations of various candidate genes (ESR1/2, IGF1, EGFR, VEGF, TNFα, MMPs, etc.), whose signaling pathways regulate BC tumor progression, show their involvement in carcinogenesis. Thus, the unknown heritability in BC formation may reach 40 %. The proportion of germline mutations in major BC predisposition genes in the population is low. Genetic variations within the same gene (e.g., BRCA1) show ethnic or territorial diversity. Nevertheless, a significant portion of BC heritability is determined by various candidate genes, whose role in forming individual BC risk is demonstrated by GWAS. Substantial evidence on the involvement of key carcinogenesis-regulating genes in BC development is being accumulated. Each of the three considered groups of genetic factors has important clinical-pathological significance and can influence the course and prognosis of the disease.