Contribution Of Environmental Factors Research Articles

A twin study of genetic and environmental contributions to attention-deficit/hyperactivity disorder over time.

Attention-deficit/hyperactivity disorder (ADHD) is an increasingly commonly diagnosed neurodevelopmental condition. One possibility is that this reflects a genuine increase in the prevalence of ADHD due to secular environmental changes, yet this hypothesis remains untested. We therefore investigated whether the genetic and environmental variance underlying ADHD, and traits of ADHD, has changed over time. We identified twins born from 1982 to 2008 from the Swedish Twin Registry (STR). We linked the STR with the Swedish National Patient Register and Prescribed Drug Register to identify diagnoses of ADHD and prescriptions of ADHD medication for these twins. We also utilized data collected from participants in the Child and Adolescent Twin Study in Sweden (CATSS), born from 1992 to 2008. Their parents completed a structured ADHD screening tool, which was used to measure traits of ADHD and assign broad screening diagnoses of ADHD. We used the classical twin design to test whether the degree to which variation in these measures was influenced by genetic and environmental variation changed over time. We included 22,678 twin pairs from the STR and 15,036 pairs from CATSS. The heritability of ADHD in the STR ranged from 66% to 86% over time, although these fluctuations were not statistically significant. We observed a modest increase in variance in ADHD traits, from 0.98 to 1.09. This was driven by small increases in the underlying genetic and environmental variance, with heritability estimated as 64%-65%. No statistically significant changes in variance in screening diagnoses were observed. The relative contribution of genetic and environmental factors to ADHD has remained stable over time, despite its increasing prevalence. Thus, changes in the underlying etiology of ADHD over time are unlikely to explain the increase in ADHD diagnoses.

Diverticulitis Familiality: A Statewide Case-Control Study.

The etiology of diverticulitis is multifactorial and poorly understood. We estimated the familiality of diverticulitis using the Utah Population Database, a statewide database linking medical records with genealogy data. We identified patients with diverticulitis diagnosed between 1998 and 2018 and age- and sex-matched controls in the Utah Population Database. Risk of diverticulitis in family members of patients and controls was calculated using multivariable Poisson models. We performed exploratory analyses to determine the association of familial diverticulitis with severity of disease and age of onset. The study population included 9,563 diverticulitis patients (with 229,647 relatives) and 10,588 controls (with 265,693 relatives). Relatives of patients were more likely to develop diverticulitis (incidence rate ratio [IRR] 1.5, 95% CI 1.4 to 1.6) compared with relatives of controls. There was an elevated risk of diverticulitis among first-degree (IRR 2.6, 95% CI 2.3 to 3.0), second-degree (IRR 1.5, 95% CI 1.3 to 1.6), and third-degree relatives of patients (IRR 1.3, 95% CI 1.2 to 1.4). Complicated diverticulitis was more common among relatives of patients compared with relatives of controls (IRR 1.6, 95% CI 1.4 to 1.8). Age at diverticulitis diagnosis was similar between groups (relatives of patients 0.2 years older than relatives of controls, 95% CI -0.5 to 0.9). Our results indicate that the first-, second-, and third-degree relatives of diverticulitis patients are at elevated risk of developing diverticulitis. This information may aid surgeons in counseling patients and family members about diverticulitis risk and can inform the development of future risk-stratification tools. Further work is needed to clarify the causal role and relative contribution of various genetic, lifestyle, and environmental factors in the development of diverticulitis.

A Twin Study of Altered White Matter Heritability in Youth With Autism Spectrum Disorder

White matter alterations are frequently reported in autism spectrum disorder (ASD), yet the etiology is currently unknown. The objective of this investigation was to examine, for the first time, the impact of genetic and environmental factors on white matter microstructure in twins with ASD compared to control twins without ASD. Diffusion-weighted MRIs were obtained from same-sex twin pairs (6-15 years of age) in which at least 1 twin was diagnosed with ASD or neither twin exhibited a history of neurological or psychiatric disorders. Fractional anisotropy (FA) and mean diffusivity (MD) were examined across different white matter tracts in the brain, and statistical and twin modeling were completed to assess the proportion of variation associated with additive genetic (A) and common/shared (C) or unique (E) environmental factors. We also developed a novel Twin-Pair Difference Score analysis method that produces quantitative estimates of the genetic and environmental contributions to shared covariance between different brain and behavioral traits. Good-quality data were available from 84 twin pairs, 50 ASD pairs (32 concordant for ASD [16 monozygotic; 16 dizygotic], 16 discordant for ASD [3 monozygotic; 13 dizygotic], and 2 pairs in which 1 twin had ASD and the other exhibited some subthreshold symptoms [1 monozygotic; 1 dizygotic]) and 34 control pairs (20 monozygotic; 14 dizygotic). Average FA and MD across the brain, respectively, were primarily genetically mediated in both control twins (A= 0.80, 95% CI [0.57, 1.02]; A= 0.80 [0.55, 1.04]) and twins concordant for having ASD (A= 0.71 [0.33, 1.09]; A= 0.84 [0.32,1.36]). However, there were also significant tract-specific differences between groups. For instance, genetic effects on commissural fibers were primarily associated with differences in general cognitive abilities and perhaps some diagnostic differences for ASD because Twin-Pair Difference-Score analysis indicated that genetic factors may have contributed to ∼40% to 50% of the covariation between IQ scores and FA of the corpus callosum. Conversely, the increased impact of environmental factors on some projection and association fibers were primarily associated with differences in symptom severity in twins with ASD; for example, our analyses suggested that unique environmental factors may have contributed to ∼10% to 20% of the covariation between autism-related symptom severity and FA of the cerebellar peduncles and external capsule. White matter alterations in youth with ASD are associated with both genetic contributions and potentially increased vulnerability or responsivity to environmental influences. We worked to ensure sex and gender balance in the recruitment of human participants. We worked to ensure race, ethnic, and/or other types of diversity in the recruitment of human participants. We worked to ensure that the study questionnaires were prepared in an inclusive way. One or more of the authors of this paper self-identifies as a member of one or more historically underrepresented racial and/or ethnic groups in science. One or more of the authors of this paper self-identifies as a member of one or more historically underrepresented sexual and/or gender groups in science. One or more of the authors of this paper self-identifies as living with a disability. The author list of this paper includes contributors from the location and/or community where the research was conducted and they participated in the data collection, design, analysis, and/or interpretation of the work.

The neuropathological landscape of Hispanic and non-Hispanic White decedents with Alzheimer disease

Despite the increasing demographic diversity of the United States’ aging population, there remain significant gaps in post-mortem research investigating the ethnoracial heterogeneity in the neuropathological landscape of Alzheimer Disease (AD). Most autopsy-based studies have focused on cohorts of non-Hispanic White decedents (NHWD), with few studies including Hispanic decedents (HD). We aimed to characterize the neuropathologic landscape of AD in NHWD (n = 185) and HD (n = 92) evaluated in research programs across three institutions: University of California San Diego, University of California Davis, and Columbia University. Only persons with a neuropathologic diagnosis of intermediate/high AD determined by NIA Reagan and/or NIA-AA criteria were included. A frequency-balanced random sample without replacement was drawn from the NHWD group using a 2:1 age and sex matching scheme with HD. Four brain areas were evaluated: posterior hippocampus, frontal, temporal, and parietal cortices. Sections were stained with antibodies against Aβ (4G8) and phosphorylated tau (AT8). We compared the distribution and semi-quantitative densities for neurofibrillary tangles (NFTs), neuropil threads, core, diffuse, and neuritic plaques. All evaluations were conducted by an expert blinded to demographics and group status. Wilcoxon’s two-sample test revealed higher levels of neuritic plaques in the frontal cortex (p = 0.02) and neuropil threads (p = 0.02) in HD, and higher levels of cored plaques in the temporal cortex in NHWD (p = 0.02). Results from ordinal logistic regression controlling for age, sex, and site of origin were similar. In other evaluated brain regions, semi-quantitative scores of plaques, tangles, and threads did not differ statistically between groups. Our results demonstrate HD may be disproportionately burdened by AD-related pathologies in select anatomic regions, particularly tau deposits. Further research is warranted to understand the contributions of demographic, genetic, and environmental factors to heterogeneous pathological presentations.

Behind closed doors: Protective social behavior during the COVID-19 pandemic.

The success of personal non-pharmaceutical interventions as a public health strategy requires a high level of compliance from individuals in private social settings. Strategies to increase compliance in these hard-to-reach settings depend upon a comprehensive understanding of the patterns and predictors of protective social behavior. Social cognitive models of protective behavior emphasize the contribution of individual-level factors while social-ecological models emphasize the contribution of environmental factors. This study draws on 28 waves of survey data from the Understanding Coronavirus in America survey to measure patterns of adherence to two protective social behaviors-private social-distancing behavior and private masking behavior-during the COVID-19 pandemic and to assess the role individual and environmental factors play in predicting adherence. Results show that patterns of adherence fall into three categories marked by high, moderate, and low levels of adherence, with just under half of respondents exhibiting a high level of adherence. Health beliefs emerge as the single strongest predictor of adherence. All other environmental and individual-level predictors have relatively poor predictive power or primarily indirect effects.

Parental resources and heritability as factors shaping children's health. An analysis of twins' self-rated health using TwinLife.

We assess the relative and joint contributions of genetic and environmental factors on health during childhood and assume that parental resources are part of the environmental factors shaping children's health. We discuss theoretical background and empirical evidence concerning the effects of parental resources and heritability on children's health. Based on these findings we formulate six hypotheses guiding our empirical analysis, using data from TwinLife, a nationally representative sample of same sex twin pairs in Germany. We analyze self-rated health of 1,584 twin pairs aged 4-18. We did find strong support for the idea that parental resources influence children's health: household income and fathers' education consistently show positive effects. In contrast to our expectation, we did not find that genetic factors influence the health of well-off children less than the health of children living in families with lower SES. We also did not find that the genetic influence on health increases during childhood and adolescence. On the contrary our results indicate that the role played by genetic factors diminishes whereas environmental factors gain importance for health of children while growing up. This finding is good news for those interested in improving health chances of children from lower SES backgrounds because it demonstrates the malleability of children's health.

Stratified genome-wide association analysis of type 2 diabetes reveals subgroups with genetic and environmental heterogeneity.

Type 2 diabetes (T2D) is a heterogeneous illness caused by genetic and environmental factors. Previous genome wide association studies (GWAS) have identified many genetic variants associated with T2D and found evidence of differing genetic profiles by age-at-onset. This study seeks to explore further the genetic and environmental drivers of T2D by analysing subgroups based on age-at-onset of diabetes and body mass index (BMI). In UK Biobank, 36 494 T2D cases were stratified into 3 subgroups and GWAS performed for all T2D cases and for each subgroup relative to 421 021 controls. Altogether, 18 SNPs significantly associated genome-wide with T2D in one or more subgroups also showed evidence of heterogeneity between the subgroups, (Cochrane's Q p < 0.01) with 2 remaining significant after multiple testing (in CDKN2B and CYTIP). Combined risk scores, based on genetic profile, BMI and age, resulted in excellent diabetes prediction (AUC = 0.92). A modest improvement in prediction (AUC = 0.93) was seen when the contribution of genetic and environmental factors was evaluated separately for each subgroup. Increasing sample sizes of genetic studies enables us to stratify disease cases into subgroups which have sufficient power to highlight areas of genetic heterogeneity. Despite some evidence that optimising combined risk scores by subgroup improves prediction, larger sample sizes are likely needed for prediction when using a stratification approach.

Contributions of meteorology and nutrient to the surface cyanobacterial blooms at different timescales in the shallow eutrophic Lake Taihu

Quantitative assessments of the contributions of various environmental factors to cyanobacterial blooms at different timescales are lacking. Here, the hourly cyanobacterial bloom intensity (CBI) index, a proxy for the intensity of surface cyanobacterial biomass, was obtained from the geostationary satellite sensor Geostationary Ocean Color Imager (GOCI) over the years 2011–2018. Generalized additive model was applied to determine the responses of monthly and hourly CBI to the perturbations of meteorological factors, water stability and nutrients, with variation partitioning analysis used to analyze the relative importance of the three groups of variables to the inter-monthly variation of diurnal CBI in each season. The effects of environmental factors on surface cyanobacterial blooms varied at different timescales. Hourly CBI increased with increasing air temperature up to 18 °C but decreased sharply above 18 °C, whereas monthly CBI increased with increasing air temperature up to 30 °C and stabilized thereafter. Among all the environmental factors, air temperature had the largest contribution to the intra-daily variation in CBI; water stability had the highest explanation rate for the inter-monthly variation of diurnal CBI during summer (42.3 %) and autumn (56.9 %); total phosphorus explained the most variation in monthly CBI (18.5 %). Compared with cyanobacterial biomass (CB) in the water column, high light and low wind speed caused significantly lower CBI in July and higher CBI in November respectively. Interestingly, cyanobacterial blooms at the hourly scale were aggravated by climate warming during winter and spring but inhibited during summer and autumn. Collectively, this study reveals the effects of environmental factors on surface cyanobacterial blooms at different timescales and suggests the consideration of the hourly effect of air temperature in short-term predictions of cyanobacterial blooms.

Eutrophication and salinization elevate the dissolved organic matter content in arid lakes

Dissolved organic matter (DOM) plays an essential role in the global lake carbon cycle. Understanding DOM composition and monitoring its spatiotemporal dynamics are of great significance for understanding the lake carbon cycle, controlling water pollution, and protecting water resources. However, previous studies have focused mainly on eutrophic freshwater lakes, with limited attention given to saline lakes. Based on in situ data collected in ten lakes in northwestern China, this study reported the changes in DOM components in different lake types. Parallel factor analysis (PARAFAC) was used to analyze the three-dimensional excitation emission matrix (EEMs) to obtain the DOM fluorescence components. The contributions of different environmental factors to the changes in DOM components were quantified by the generalized linear model (GLM). The results showed that the eutrophication index was significantly positively related to dissolved organic carbon (DOC) (R2 = 0.95, p < 0.01) and colored DOM (CDOM) (R2 = 0.96, p < 0.01) concentrations. Terrestrial humic-like and tryptophan-like components, which are highly correlated with human activities, explained 62% and 64% of the variations in DOC and CDOM, respectively. In sum, the contributions of human activities to the DOC and CDOM variations were 61% and 57%, respectively. Salinity also showed significant positive correlations with both DOC (R2 = 0.88, p < 0.01) and CDOM (R2 = 0.87, p < 0.01). Lake salinization led to increases in DOM concentration, and salinity contributed 20% and 16% to the DOC and CDOM variations, respectively. Therefore, human activities and salinity codetermined the DOM concentration and its composition in the western arid lakes.Based on these findings, this study proposed a feasible flowchart for remotely estimating DOM in saline lakes using satellite data. This study is significant for the long-term monitoring of the carbon cycle and the effective protection of lake water resources in saline lakes.

Case–control association study of congenital heart disease from a tertiary paediatric cardiac centre from North India

BackgroundCongenital Heart diseases (CHDs) account for 1/3rd of all congenital birth defects. Etiopathogenesis of CHDs remain elusive despite extensive investigations globally. Phenotypic heterogeneity witnessed in this developmental disorder reiterate gene-environment interactions with periconceptional factors as risk conferring; and genetic analysis of both sporadic and familial forms of CHD suggest its multigenic basis. Significant association of de novo and inherited variants have been observed. Approximately 1/5th of CHDs are documented in the ethnically distinct Indian population but genetic insights have been very limited. This pilot case–control based association study was undertaken to investigate the status of Caucasian SNPs in a north Indian cohort.MethodA total of 306 CHD cases sub-classified into n = 198 acyanotic and n = 108 cyanotic types were recruited from a dedicated tertiary paediatric cardiac centre in Palwal, Haryana. 23 SNPs primarily prioritized from Genome-wide association studies (GWAS) on Caucasians were genotyped using Agena MassARRAY Technology and test of association was performed with adequately numbered controls.ResultsFifty percent of the studied SNPs were substantially associated in either allelic, genotypic or sub-phenotype categories validating their strong correlation with disease manifestation. Of note, strongest allelic association was observed for rs73118372 in CRELD1 (p < 0.0001) on Chr3, rs28711516 in MYH6 (p = 0.00083) and rs735712 in MYH7 (p = 0.0009) both on Chr 14 and were also significantly associated with acyanotic, and cyanotic categories separately. rs28711516 (p = 0.003) and rs735712 (p = 0.002) also showed genotypic association. Strongest association was observed with rs735712(p = 0.003) in VSD and maximum association was observed for ASD sub-phenotypes.ConclusionsCaucasian findings were partly replicated in the north Indian population. The findings suggest the contribution of genetic, environmental and sociodemographic factors, warranting continued investigations in this study population.

The Relative Contributions of Center Demographic, Director, Parental, Social, Environmental, and Policy Factors to Changes in Outdoor Play in Childcare Centers During the COVID-19 Pandemic.

The primary objective of this study was to investigate the relative contributions of factors from multiple social-ecological levels in explaining outdoor play changes in childcare centers during the COVID-19 pandemic. In Alberta, Canada, licensed childcare center directors (n = 160) completed an online questionnaire. For outcomes, changes in the frequency and duration of outdoor play in childcare centers during COVID-19 compared to before COVID-19 were measured. For exposures, center demographic, director, parental, social, environmental, and policy-level factors were measured. Hierarchical regression analyses were conducted separately for winter (December-March) and nonwinter months (April-November). In most instances, factors at each social-ecological level explained a statistically significant amount of unique variance in changes in outdoor play in childcare centers during COVID-19. Full models accounted for more than 26% of the variance in the outcomes. Changes in parental interest in outdoor play was the most consistent correlate of changes in the frequency and duration of outdoor play in both winter and nonwinter months during COVID-19. In terms of changes in the duration of outdoor play, social support from the provincial government, health authority, and licensing, and changes in the number of play areas in licensed outdoor play spaces were also consistent correlates in both winter and nonwinter months during COVID-19. Factors from multiple social-ecological levels uniquely contributed to changes in outdoor play in childcare centers during the COVID-19 pandemic. Findings can help inform interventions and public health initiatives related to outdoor play in childcare centers during and after the ongoing pandemic.

Interactions between large-scale and local factors influence seed predation rates and seed loss.

Herbivores often have highly variable impacts on plant fecundity. The relative contribution of different environmental factors operating at varying spatial scales in affecting this variability is often unclear. We examined how density-dependent seed predation at local scales and regional differences in primary productivity are associated with variation in the magnitude of pre-dispersal seed predation on Monarda fistulosa (Lamiaceae). Within M. fistulosa populations growing in a low-productivity region (LPR), Montana, USA, and a high-productivity region (HPR), Wisconsin, USA, we quantified the magnitude of pre-dispersal seed predation among individual plants differing in seed head densities. Out of a total of 303 M. fistulosa plants that were surveyed, we found half as many herbivores in seed heads in the LPR (n = 133 herbivores) compared to the HPR (n = 316). In the LPR, 30% of the seed heads were damaged in plants with low seed head density, while 61% of seed heads were damaged in plants with high seed head density. Seed head damage was consistently high in the HPR (about 49% across the range of seed head density) compared to the LPR (45% across a range of seed head density). However, the proportion of seeds per seed head that were destroyed by herbivores was nearly two times higher (~38% loss) in the LPR compared to HPR (22% loss). Considering the combined effects of probability of damage and seed loss per seed head, the proportion seed loss per plant was consistently higher in the HPR regardless of seed head density. Nevertheless, because of greater seed head production, the total number of viable seeds produced per plant was higher in HPR and high-density plants, despite being exposed to greater herbivore pressure. These findings show how large-scale factors can interact with local-scale factors to influence how strongly herbivores suppress plant fecundity.

0107 Rest-activity rhythmicity across the lifespan: findings from the National Health and Nutrition Examination Survey (NHANES)

Abstract Introduction Non-parametric metrics of interdaily stability (IS), relative amplitude (RA), and intradaily variability (IV) characterize between- and within-day rest-activity rhythms. Prior research has reported differences in these metrics by age and race/ethnicity, but these differences have not been widely assessed in children and adolescents. Therefore, we investigated associations of these metrics with sociodemographic factors across the lifespan, including children, in a US-representative cross-sectional study. Methods Rest-activity metrics were derived from actigraphy data (wrist-worn GT3X+ ActiGraph devices) measured over one week in the 2011-2014 National Health and Nutrition Examination Survey (NHANES). Pregnant participants and participants with &amp;lt; 4 days of valid data were excluded; missing activity data were imputed and pooled using Rubin’s rule. Population-weighted linear and ordinal logistic regression (quartiles) models were fit to examine the associations of age, gender, smoking, body mass index (BMI), income-to-poverty ratio, and self-reported race/ethnicity with rhythmicity measures. Stratified analyses by age groups were conducted. Results There were n=12,526 participants aged 3-80 years. In adjusted analyses, IS and RA (higher: stronger rhythms) decreased with age and were lower among men, whereas IV (higher: weaker rhythm, greater fragmentation) increased with age (p&amp;lt; 0.05). Higher income-to-poverty ratio associated with higher RA (1-unit OR=1.11, 95%CI:1.06,1.16) and IV (1-unit OR=1.10, 95%CI:1.07,1.13). Greater BMI associated with lower RA and IS and higher IV (p&amp;lt; 0.05). Smoking associated with decreased values for all metrics. Compared to the non-Hispanic White group, the Asian, non-Hispanic Black, and Other/Multiracial groups were more likely to have lower RA, lower IS, and higher IV (p&amp;lt; 0.05). Compared to the non-Hispanic White group, the Mexican American (OR=0.83, 95%CI:0.72,0.95) and Other Hispanic (OR=0.83, 95%CI:0.73,0.94) groups were less likely to have higher IV. Analyses stratified by age (≤18, &amp;gt;18 years) resulted in similar patterns among the Asian, non-Hispanic Black, and Other/Multiracial groups (p&amp;lt; 0.05). Conclusion Rest-activity rhythms differ by age, gender, BMI, income, smoking, and race/ethnicity, representing possible windows for public health intervention and sleep health promotion. Differences in rest-activity measures by race/ethnicity begin in childhood, are evident in early adolescence, and persist throughout adulthood. Future analyses will evaluate the contribution of environmental factors to these differences. Support (if any) NIH-NHLBI T32HL007901, R35HL135818

The genetics of gaming: A longitudinal twin study.

Gaming is a popular past-time activity among children and adolescents, but it there is also a possible link to negative consequences such as psychological distress and lowered academic achievement. However, there are fundamental knowledge gaps remaining regarding central characteristics of gaming such as heritability, stability over time, and sex differences. We examined the genetic and environmental contribution to gaming behavior, including sex differences, continuity and change, in a longitudinal cohort of twins. This is the first longitudinal twin study on gaming, involving 32,006 twins in Sweden. Parents were asked about the twins' gaming at ages 9, 15 and 18. We used univariate and multivariate twin analyses to estimate the relative contribution of genetic and environmental influences at each time-point as well as across time. Sex-differences were also explored. The results showed large sex differences, where genetics explained more of the variance for boys (31.3%-62.5% depending on age) than for girls (19.4%-23.4%). Genetic factors explained an increasing amount of the variance for boys (31.3% at age 9, 62.5% at age 15 and 53.9% at age 18). Shared environmental factors explained a larger proportion of the variance among girls, which remained relatively stable over time (70.5% at age 9, 61.8% at age 15 and 60.5% at age 18). The results also indicated that most of the variance came from genetic and environmental sources specific to each age. Compared to many other behavioral phenotypes, such as gambling, gaming was relatively unstable with a large degree of genetic innovation. There were large sex differences in the contribution of genetic and environmental factors. This suggests that excessive gaming could be the result of age- and sex-specific genetic and environmental factors, and should be taken into account when mapping gaming behaviors, since these behaviors might be under continual etiological transformation.

Clinical assessment of deleterious oral habits and dental caries–periodontal parameters among Turkish twins

Twin studies are crucial to assess the relative contribution of genetic and environmental factors. This study was conducted to evaluate association between deleterious oral habits and dental caries-periodontal parameters among Turkish twins. The study comprised 143 pairs of dizygotic (DZ) twins and 59 pairs of monozygotic (MZ) twins aged 3-15 years. Twins were examined for dental caries, plaque index, gingival index, bleeding on probing and deleterious oral habits. Mann Whitney U test was used to examine the data. The MZ twin pairs consisted of 60 male and 58 female twin pairs, whereas the DZ twin pairs consisted of 144 male and 142 female. The mean age of the twins was 9.63±3.0 in MZ twins and 9.47±3.2 in DZ twins. The mean DMFS value of MZ twins with bruxism is higher than those of MZ twins without bruxism (P=0.001). The mean DMFS value of DZ twins with pacifier sucking is lower than those without (P=0.007). A statistically significant difference was found between MZ twins with and without nail biting in terms of bleeding on probing and dmfs values (P=0.035; P=0.012). The mean values of the plaque index increased due to the mouth breathing in DZ twins (P=0.024). Regarding the bleeding on probing, there was a statistically significant difference between MZ twins with and without atypical swallowing (P=0.016). These findings suggest that dental caries-periodontal parameters are similarly affected by deleterious oral habits in MZ and DZ twins.

Quantitative detection and attribution of soil moisture heterogeneity and variability in the Mongolian Plateau

As an essential state variable of the earth’s terrestrial system, soil moisture (SM) is highly significant regarding hydrological processes, agricultural production, land management in response to issues like soil erosion etc. However, the net effects of different environmental factors on the heterogeneity and variations of SM remain unclear, due to the complex interactions between variables. Indeed, investigating such effects in the highly climate-vulnerable Mongolian Plateau is imperative for water resource management and climate change adaptation. In this study, we analyzed the contributions of different environmental factors on the spatial heterogeneity and variations of SM in the Mongolian Plateau between 1982 and 2020, using a geographic detector model (GDM) and a novel nonlinear Granger causality model. The results of the GDM analysis demonstrated that precipitation and vegetation were the main controls relevant to SM heterogeneity, with their explanatory powers (Q statistics of GDM) found to be higher than 0.67. In two breakpoints—one in the early 1990′s and another in 2007—SM demonstrated a pattern of increase, then a decrease, subsequently followed by an increase (insignificant decrease in SM at 100–289 cm depth only). Precipitation was identified as the Granger causal of SM variations over 33.39–97.65% of the plateau’s vegetated area, leading to the drying up of 40% of its SM. The greatest contribution to SM in 28–289 cm of the plateau was observed as coming from one-month-old precipitation, due to the lag in the manifestation of effects. Further, rising temperatures were found to have an immediate influence (2.73–5.23%) on SM in 14.61–54.90% of the whole plateau’s vegetated area, an impact which was relatively high (>14%) in its northeastern wetting zone. Vegetation change posed a relatively weak effect (<2%) on SM over a limited area of the plateau (27.75–35.42%). Although lesser than the impacts of general climate changes, the contributions of climatic extremes could not be neglected, ultimately accounting for up to 10% of SM changes. In summary, this study provides new insights into the individual contributions of various environmental factors on the spatial heterogeneity and variations of SM in the Mongolian Plateau, offering vital information for policymaking regarding climate change mitigation and adaptation, sustainable use of water resources, and ecological restoration for arid and semi-arid region.

Genetic and Environmental Effects on the Early Motor Development as a Function of Parental Educational Attainment.

The contribution of genetic and environmental factors to individual differences in early motor development is still largely uncharted. This large-scale twin study establishes the genetic and environmental influences on the timing of motor milestones achievement, and it further tests whether the influences are moderated by parental education. The twins came from families registered in the Netherlands Twin Register (NTR) from 1986 to 2016. In 30,256 complete twin pairs, mother-reported ages at which each twin was able to first-time roll from back to belly, sit unassisted, hands-and-knees crawl, stand up unaided, and walk independently were used to extract an early motor development factor. Parental education was dichotomized ("both parents with low/average education" vs "at least one parent with high education" with university degree as a threshold). Additive genetics explained 52% of the variance in motor development, the remaining 39% and 9% were explained by shared and nonshared environment separately. Mean age of achieving motor milestones tended to be higher in infants with high educated parents, and a moderation of parental education on the genetic and environmental variance in motor development was seen in female twins with larger heritability in the high educated parents group (64% vs 43%) paired to a lower shared environmental influence (28% vs 48%). Only 7%-8% of the variance was accounted for nonshared environmental factors, including measurement error. The pattern of results did not change when the degree of urbanicity, a correlate of parental education, was additionally considered. Genetic factors explain most of the individual differences in the timing of motor milestone achievement, but factors related to the shared home environment also play an important role in early motor development.

Evaluation of microbial communities of Chinese Feng-flavor Daqu with effects of environmental factors using traceability analysis

Analysis of the changes of microorganisms during Chinese Feng-flavor Daqu fermentation, and the specific contribution of different environmental factors to Daqu microorganisms. High throughput sequencing technology and SourceTracker software were used to analyze the microbial diversity of Feng-flavor Daqu before and after fermentation. 85 fungal and 105 bacterial were detected in the newly pressed Feng-flavor Daqu, while 33 fungal and 50 bacterial in the mature Daqu, and 202 fungal and 555 bacterial in the environmental samples. After fermentation, the microbial community structure of Daqu changed and decreased significantly. 94.7% of fungi come from raw materials and 1.8% from outdoor ground, 60.95% of bacteria come from indoor ground, 20.44% from raw materials, and 8.98% from tools. By comparing the changes of microorganisms in Daqu before and after fermentation, the microorganisms in mature Daqu may mainly come from not only the enhanced strains but also the environment.The source of main microorganisms in Feng-flavor Daqu and the influence of environmental factors on the quality of Daqu were clarified, which provided a basis for improving the quality of Feng-flavor Daqu.

Immune synaptopathies: how maternal immuneactivation impacts synaptic function during development.

In the last two decades, the term synaptopathy has been largely used to underline the concept that impairments of synaptic structure and function are the major determinant of brain disorders, including neurodevelopmental disorders. This notion emerged from the progress made in understanding the genetic architecture of neurodevelopmental disorders, which highlighted the convergence of genetic risk factors onto molecular pathways specifically localized at the synapse. However, the multifactorial origin of these disorders also indicated the key contribution of environmental factors. It is well recognized that inflammation is a risk factor for neurodevelopmental disorders, and several immune molecules critically contribute to synaptic dysfunction. In the present review, we highlight this concept, which we define by the term "immune-synaptopathy," and we discuss recent evidence suggesting a bi-directional link between the genetic architecture of individuals and maternal activation of the immune system in modulating brain developmental trajectories in health and disease.

Gut immunopathological signatures in Rag1 hypomorphic mice

Inflammatory bowel disease (IBD) has been reported in ~15% of patients with partial RAG deficiency. To investigate the pathophysiology of intestinal disease, we studied the interplay of T-cell immune dysregulation and microbiome abnormalities in a mouse model (Rag1w/w) homozygous fora hypomorphic Rag1 mutation (R972W) whose orthologue variant (R975W) has been reported in patients. Analysis of gut tissue in Rag1w/w mice revealed severe spontaneous colitis with lymphocytic infiltrates, which become histologically evident after weaning. To assess the relative contribution of genetic and environmental factors on the pathogenesis of gut inflammation, we performed flow cytometry and single-cell RNA-seq of lamina propria (LP) T cells and microbiome studies of fecal specimens in Rag1w/w and Rag1+/+ mice. Rag1w/w mice showed skewing towards a Th1/Th17 phenotype in CD4+ cells infiltrating the LP. Analysis of the fecal microbiota composition revealed a severe restriction of microbial diversity in Rag1w/w mice, with progressive depletion of three genera of firmicutes (Lachnospiraceae, Oscillibacter, Intestinimonas) producing butyrate. Principal component analysis of metabolomics data of fecal specimens clustered Rag1w/w separately from Rag1+/+ mice, with a severe defect in the amount of butyrate in the former. Consistent with an important role of butyrate in facilitating priming of IL-10 producing Tr1 cells, Il10 expression was markedly reduced in CD4+ LP T-cells from Rag1w/w compared to Rag1+/+ mice. Furthermore, scRNAseq of LP CD4+ T-cells revealed reduced presence of Tr1 cells in Rag1w/w mice, indicating that microbiome abnormalities contribute to the intestinal immune dysregulation. Treatment of Rag1w/w mice with vedolizumab (aiming at blocking gut homing of pathogenic T cells) had no effect on intestinal inflammation and on restriction of microbiome diversity. By contrast, both use of broad-spectrum antibiotics and bone marrow transplantation (BMT) significantly improved the inflammation and normalized the number of LP CD4+ cells. However, the LP CD4+ T cells of antibiotic-treated mice retained a strong Th1/Th17 signature, whereas only BMT rescued the phenotype, and induced normalization of microbiome diversity and restoration in the relative abundance of firmicutes. These data provide mechanistic insights into the pathophysiology of IBD associated with partial RAG deficiency, and confirm a curative role of bone marrow transplantation.