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1.
Int J Mol Sci ; 25(13)2024 Jul 04.
Artículo en Inglés | MEDLINE | ID: mdl-39000468

RESUMEN

Previously, we found that a greater dissimilarity in swine leukocyte antigen (SLA) class I and class II alleles between mating partners resulted in increased farrowing rates in a highly inbred population of Microminipigs (MMPs). In this follow-up study, we have analyzed the effects of dissimilarity in SLA alleles between mating partners for seven different reproductive traits, including litter size and the number of stillborn and live or dead weaned piglets. We determined the relationships among reproductive traits within each mating event and the amino acid distances of SLA alleles as markers of diversity between mating partners. Our results indicate that mating partners with greater amino acid pairwise genetic distances in the SLA-1 class I gene or DQB1 class II gene alleles were associated with significantly larger litter sizes and higher numbers of live piglets at birth and weaning. Also, partners with greater pairwise distances in the SLA-2 class I gene alleles exhibited fewer pre-weaning deaths. These findings suggest that the dissimilarity in SLA class I and class II alleles between mating partners may affect not only farrowing rates but also other key reproductive traits such as litter size and improved piglet survival rates. Consequently, SLA alleles could serve as valuable genetic markers for selecting mating partners in breeding programs and for conducting epistatic studies on various reproductive traits in MMPs.


Asunto(s)
Alelos , Antígenos de Histocompatibilidad Clase I , Reproducción , Animales , Porcinos/genética , Antígenos de Histocompatibilidad Clase I/genética , Reproducción/genética , Femenino , Tamaño de la Camada/genética , Porcinos Enanos/genética , Masculino , Antígenos de Histocompatibilidad Clase II/genética , Aminoácidos/genética
2.
Anxiety Stress Coping ; : 1-12, 2024 Jul 04.
Artículo en Inglés | MEDLINE | ID: mdl-38965756

RESUMEN

Anxiety can have adverse effects on cognition such as impairing test performance or restricting working memory. One way of reducing anxiety is through humor, and the present research investigated if the perception of laughter, which is often seen as a reaction to humor, could impact self-reported anxiety. Participants completed the STAI battery containing subscales for both state and trait anxiety before and after one of three manipulations: a laughter sounds rating task, a neutral sounds rating task, or a working memory span task. Results showed that perceiving laughter decreased both state and trait anxiety, taking a working memory test increased state anxiety, and perceiving neutral sounds had no effect on either type of anxiety. These findings are interpreted as evidence that the positive emotions induced by hearing laughter help to regulate anxiety by undoing arousal, even when negative emotions are not present.

3.
Heliyon ; 10(12): e32763, 2024 Jun 30.
Artículo en Inglés | MEDLINE | ID: mdl-38994076

RESUMEN

Multi-environment trials (MET) are crucial for selecting genotypes that are well-suited to different environmental conditions. Incorporating multiple traits in the analysis can provide more reliable recommendations for selecting genotypes with desirable traits, including resistance to the Mungbean Yellow Mosaic Virus (MYMV) and high yield potential. The use of a Multi-Trait Stability Index (MTSI) is a good approach for analyzing the stability of genotypes across multiple traits under MYMV stress. In the present investigation, the performance of thirteen green gram genotypes were evaluated for traits such as yield, plant height, number of branches per plant, and resistance to MYMV. The main objective of the study is to identify highly productive and stable mung bean genotypes resistant to MYMV. MTSI can be calculated by combining information on the performance of genotypes across multiple traits and environmental conditions to provide a single index that indicates the overall stability of genotypes across traits and environments. The results helped to identify two green gram genotypes (Yadadri and JNG-18) that were high-yielding with stable resistance to MYMV stress across multiple environmental conditions. This can provide useful information to breeders for the development of suitable genotypes against MYMV in the affected areas.

4.
Glob Chang Biol ; 30(7): e17428, 2024 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-39021355

RESUMEN

Global hydroclimatic variability is increasing with more frequent extreme dry and wet years, severely destabilizing terrestrial ecosystem productivity. However, what regulates the consequence of precipitation extremes on productivity remains unclear. Based on a 9-year field manipulation experiment on the Qinghai-Tibetan Plateau, we found that the responses of gross primary productivity (GPP) to extreme drought and wetness were differentially regulated by nitrogen (N) deposition. Over increasing N deposition, extreme dry events reduced GPP more. Among the 12 biotic and abiotic factors examined, this was mostly explained by the increased plant canopy height and proportion of drought-sensitive species under N deposition, making photosynthesis more sensitive to hydraulic stress. While extreme wet events increased GPP, their effect did not shift over N deposition. These site observations were complemented by a global synthesis derived from the GOSIF GPP dataset, which showed that GPP sensitivity to extreme drought was larger in ecosystems with higher N deposition, but GPP sensitivity to extreme wetness did not change with N deposition. Our findings indicate that intensified hydroclimatic variability would lead to a greater loss of land carbon sinks in the context of increasing N deposition, due to that GPP losses during extreme dry years are more pronounced, yet without a synchronous increase in GPP gains during extreme wet years. The study implies that the conservation and management against climate extremes merit particular attention in ecosystems subject to N deposition.


Asunto(s)
Sequías , Nitrógeno , Nitrógeno/metabolismo , Nitrógeno/análisis , Ecosistema , Cambio Climático , Fotosíntesis , China , Tibet
5.
BMC Med Educ ; 24(1): 741, 2024 Jul 09.
Artículo en Inglés | MEDLINE | ID: mdl-38982417

RESUMEN

BACKGROUND: As societal evolution unfolds in China, individuals with physical disabilities are increasingly provided opportunities in higher education, particularly in the field of medicine. However, these medical students often encounter bias in their work environments, including during internships, which fosters self-stigma and impedes their experience for workplace well-being (WWB). Such a decrease in WWB detrimentally affects not only their mental health in the workplace but also hinders their sense of personal worth and assimilation into broader society. This study aims to examine the challenges faced by medical students with physical disabilities in China as they aspire to achieve WWB, and to explore potential intervention strategies. METHODS: Leveraging cognitive consistency theory (CCT), we introduces a conceptual framework to examine the relationships among self-stigma, perceived discrimination, and WWB. It also investigates the role of trait mindfulness as a potential mitigating factor in this dynamic. We employed the Internalized Stigma of Mental Illness Scale (ISMIS), Discrimination Perception Questionnaire (DPQ), Workplace Well-being Subscale (WWBS), and Mindful Attention Awareness Scale (MAAS) to survey 316 medical students with physical disabilities. Statistical analyses, including correlation, regression, and moderated mediation effect assessments, were conducted using SPSS 22.0 and AMOS 24.0. RESULTS: A notable negative correlation exists between self-stigma and WWB (r = -0.56, p < 0.01). Perceived discrimination partially mediates the relationship between self-stigma and WWB. The direct effect of self-stigma and its mediating effect through perceived discrimination account for 60.71% and 21.43% of the total effect, respectively. Trait mindfulness moderates the latter part of this mediating pathway. Moderation models indicate that trait mindfulness has a significant negative moderating effect on the impact of perceived discrimination on WWB (ß = -0.10, p < 0.001). CONCLUSIONS: Self-stigma adversely affects the positive work experiences of medical students with physical disabilities by eliciting a heightened sensitivity to discriminatory cues, thereby undermining their WWB. Trait mindfulness can effectively counter the detrimental effects of perceived discrimination on WWB. Consequently, this study advocates for the systematic incorporation of mindfulness training into educational services and workplace enhancement programs for medical students with disabilities, aiming to foster an inclusive and supportive external environment.


Asunto(s)
Personas con Discapacidad , Atención Plena , Estigma Social , Estudiantes de Medicina , Lugar de Trabajo , Humanos , Estudiantes de Medicina/psicología , China , Personas con Discapacidad/psicología , Masculino , Femenino , Lugar de Trabajo/psicología , Adulto Joven , Adulto , Autoimagen , Encuestas y Cuestionarios
6.
Indian J Clin Biochem ; 39(3): 438-441, 2024 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-39005868

RESUMEN

The HbD Punjab trait is a less common hemoglobin variant in the Saurashtra region of Gujarat. This patient presented to the General Medicine and Biochemistry Department at All India Institute of Medical Sciences, Rajkot, Hospital, for the HbA1c analysis by high-performance liquid chromatography (HPLC). The patient was 52 years old, a known case of type 2 diabetes mellitus and hypertension, and presented with complaints of generalized malaise and fatigability for the previous ten to twelve months. On physical examination, there was no evidence of pallor, lymphadenopathy, splenomegaly, or hepatomegaly. Peripheral blood smear revealed normocytic normochromic RBC, and platelets were adequate and normal in morphology. The HPLC analysis revealed heterozygous for hemoglobin D (HbD Punjab trait), and false high HbA1c corresponds to fasting plasma glucose (FPG) levels due to abnormal separation. However, genetic counseling is highly recommended to detect any potential reproductive risk factors.

7.
Food Chem X ; 23: 101584, 2024 Oct 30.
Artículo en Inglés | MEDLINE | ID: mdl-39007111

RESUMEN

Chinese bayberry residue (CBR) is a by-product of processing, which can be used as an auxiliary material during the processing of quinoa rice wine. In this study, the effects of CBR on the chemical profile, bioactive function, taste traits, and flavor of Chinese quinoa rice wine (CQRW) were investigated. The results showed that adding CBR increased the total phenolics, the total flavonoids, and antioxidant capacity. Malic acid content was the highest in Chinese rice wine (CRW), while the total content of components detected in HPLC-MS/MS was the highest in 10%CBR + CQRW. The CQRW exhibited the highest amino acid content, followed by 20%CBR + CQRW. E-tongue analysis results showed that 10%CBR + CQRW, 20%CBR + CQRW, and CQRW had the closest taste traits. Moreover, GC-MS analysis identified 72 aroma compounds in 10%CBR + CQRW sample, more than other samples. In summary, adding 10% CBR significantly improved the quality of CQRW.

8.
Am Nat ; 204(2): E11-E27, 2024 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-39008843

RESUMEN

AbstractIn many species, a few individuals produce most of the next generation. How much of this reproductive skew is driven by variation among individuals in fixed traits, how much by external factors, and how much by random chance? And what does it take to have truly exceptional lifetime reproductive output (LRO)? In the past, we and others have partitioned the variance of LRO as a proxy for reproductive skew. Here we explain how to partition LRO skewness itself into contributions from fixed trait variation, four forms of "demographic luck" (birth state, fecundity luck, survival trajectory luck, and growth trajectory luck), and two kinds of "environmental luck" (birth environment and environment trajectory). Each of these is further partitioned into contributions at different ages. We also determine what we can infer about individuals with exceptional LRO. We find that reproductive skew is largely driven by random variation in lifespan, and exceptional LRO generally results from exceptional lifespan. Other kinds of luck frequently bring skewness down rather than increasing it. In populations where fecundity varies greatly with environmental conditions, getting a good year at the right time can be an alternate route to exceptional LRO, so that LRO is less predictive of lifespan.


Asunto(s)
Fertilidad , Longevidad , Reproducción , Animales , Modelos Biológicos , Ambiente
9.
Support Care Cancer ; 32(8): 510, 2024 Jul 13.
Artículo en Inglés | MEDLINE | ID: mdl-39002026

RESUMEN

PURPOSE: This study aimed to investigate death anxiety (DA) in caregivers of patients with advanced cancer and identify associated factors in the context of Chinese culture. METHODS: Caregivers (N = 588) of advanced cancer patients in a tertiary cancer hospital completed anonymous questionnaire surveys. Measures included the Chinese version of the Templer Death Anxiety Scale (C-T-DAS), the Quality-of-Life Scale, the State-Trait Anxiety Scale, and the Social Support Rating Scale. Data were analyzed in SPSS (IBM Corp, Armonk, NY, USA) using descriptive statistics, Pearson's correlation test, and linear regression. RESULTS: Respondents returned 588 (93.03%) of the 632 questionnaires. The total C-T-DAS score was 7.92 ± 2.68 points. The top-scoring dimension was "Stress and pain" (3.19 ± 1.29 points), followed by "Emotion" (2.28 ± 1.31 points) and "Cognition" (1.40 ± 0.94 points). In contrast, the lowest-scoring dimension was "Time" (1.06 ± 0.77 points). Factors associated with DA (R2 = 0.274, F = 13.348, p < 0.001) included quality of life (QoL), trait anxious personality, social support, caregiver length of care, caregiver gender, and patients' level of activities of daily living (ADL). CONCLUSIONS: Our results demonstrated high levels of DA in caregivers of patients with advanced cancer. Generally, female caregivers and those with low social support had high DA. Caregivers caring for patients with low ADL levels or with a low QoL and trait anxious personality reported high DA. Certain associated factors help to reduce caregivers DA. Social interventions are recommended to improve the end-of-life transition and trait anxious personality as well as quality of life for caregivers.


Asunto(s)
Ansiedad , Cuidadores , Neoplasias , Calidad de Vida , Apoyo Social , Humanos , Masculino , Cuidadores/psicología , Femenino , Neoplasias/psicología , Persona de Mediana Edad , Estudios Transversales , Ansiedad/etiología , Ansiedad/epidemiología , Encuestas y Cuestionarios , Adulto , Anciano , China , Actitud Frente a la Muerte
10.
J Environ Manage ; 366: 121818, 2024 Jul 12.
Artículo en Inglés | MEDLINE | ID: mdl-39002462

RESUMEN

Limiting the negative effects of an invasive species, such as Reynoutria japonica, has become a challenge for scientists and a necessity for managers. Ecologically relevant, technically feasible, and sustainable control methods must be created to reduce the development or spread of R. japonica in ecosystems. The objective of our study was to investigate how monthly mowing in association with plant competition affects the development of R. japonica over a three-year field experiment. Among the plant traits measured, the height growth of R. japonica was the most affected; it was strongly reduced in the presence of competing plants. Combined mowing and competition with restoration plants negatively affected the growth diameter of R. japonica. Most competitive sown species were well established and complementary in limiting the development of R. japonica. The plant communities showed interannual dynamics in which R. japonica declined progressively. The restoration methodology adopted in this study allows managers to make appropriate decisions to reduce the impact of R. japonica on ecosystems.

11.
Trends Ecol Evol ; 2024 Jul 13.
Artículo en Inglés | MEDLINE | ID: mdl-39003192

RESUMEN

Life history strategies, which combine schedules of survival, development, and reproduction, shape how natural selection acts on species' heritable traits and organismal fitness. Comparative analyses have historically ranked life histories along a fast-slow continuum, describing a negative association between time allocation to reproduction and development versus survival. However, higher-quality, more representative data and analyses have revealed that life history variation cannot be fully accounted for by this single continuum. Moreover, studies often do not test predictions from existing theories and instead operate as exploratory exercises. To move forward, we offer three recommendations for future investigations: standardizing life history traits, overcoming taxonomic siloes, and using theory to move from describing to understanding life history variation across the Tree of Life.

12.
Animals (Basel) ; 14(13)2024 Jun 26.
Artículo en Inglés | MEDLINE | ID: mdl-38998000

RESUMEN

This study aimed to investigate the association between hepatic VNN1 expression and carcass traits in Mahuang chickens as well as to identify polymorphisms in the upstream and downstream regions of VNN1 that could potentially be associated with these carcass traits. The study revealed that VNN1 expression levels in liver correlated with various carcass traits such as dressed weight, eviscerated weight, and abdominal fat weight. A total of 39 polymorphic sites were identified, among which 23 were found to be associated with 15 different carcass traits. These polymorphic sites were organized into three distinct haplotype blocks, with BLOCK2 and BLOCK3 being associated with various eviscerated weight percentages, thigh weight, breast muscle weight, wing weight, and other traits. The study underscores the significant role of VNN1 in influencing the carcass traits of Mahuang chickens and sheds light on the genetic foundations of these traits. The findings provide valuable insights that could inform breeding strategies aimed at optimizing traits relevant to market demands and slaughtering efficiency.

13.
BMC Psychol ; 12(1): 387, 2024 Jul 10.
Artículo en Inglés | MEDLINE | ID: mdl-38987815

RESUMEN

OBJECTIVE: The mainstream view in trait aggression research has regarded the structure as representing the latent cause of the cognitions, emotions, and behaviors that supposedly reflect its nature. Under network perspective, trait aggression is not a latent cause of its features but a dynamic system of interacting elements. The current study uses network theory to explain the structure of relationships between trait aggression features in juvenile offenders and their peers. METHODS: Network analysis was applied to investigate the dynamic system of trait aggression operationalized by the Buss-Perry Aggression Questionnaire in a sample of community youths (Mage = 17.46, N = 715) and juvenile offenders (Mage = 18.36, N = 834). RESULTS: The facet level networks showed that anger is a particularly effective mechanism for activating all other traits. In addition, anger was more strongly associated with physical aggression and the overall network strength was greater in juvenile delinquency networks than in their peers. The item level networks revealed that A4 and A6 exhibited the highest predictability and strength centrality in both samples. Also, the Bayesian network indicated that these two items were positioned at the highest level in the model. There are similarities and differences between juvenile delinquents and community adolescents in trait aggression. CONCLUSION: Trait aggression was primarily activated by difficulty controlling one's temper and feeling like a powder keg.


Asunto(s)
Agresión , Delincuencia Juvenil , Humanos , Agresión/psicología , Adolescente , Masculino , Delincuencia Juvenil/psicología , Femenino , Criminales/psicología , Ira , Grupo Paritario , Conducta del Adolescente/psicología , Encuestas y Cuestionarios , Adulto Joven , Teorema de Bayes
14.
J Hematol ; 13(3): 116-120, 2024 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-38993734

RESUMEN

Hemoglobin Korle-Bu (Hb KB) is a rare and likely under-reported hemoglobin (Hb) variant resulting from an unusual point mutation on the beta-globin chain. Hb KB is typically clinically silent, and there are limited reports of Hb KB heterozygosity compounded with other hemoglobinopathies that can present with varying clinical phenotypes. Here, we report a case of compound Hb KB heterozygosity with Hb S in an asymptomatic military trainee with a positive sickle cell screening test. Hb capillary and gel electrophoresis predicted a compound Hb S/D-Punjab overlap, which foretells a severe clinical phenotype. Sequencing of the Hb beta gene HBB demonstrated Hb KB, allowing for a diagnosis that fit his asymptomatic clinical phenotype and allowed for retention in the military.

15.
J Hematol ; 13(3): 53-60, 2024 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-38993742

RESUMEN

In adults, the sickle cell solubility test (SCST) is the most common screening test to determine the presence of hemoglobin S (HbS) within a blood sample. The assay is inexpensive, rapid, highly sensitive and specific. However, the SCST cannot accurately quantify the level of HbS in a test sample and requires confirmatory testing to distinguish between sickle trait and sickle cell disease. Despite these limitations, it remains the standard screening tool for HbS in a variety of settings such as screening in the US military or by the National Collegiate Athletic Association. With an increased awareness of the importance of screening for sickle cell in adults, we herein describe the current sensitivity, specificity, positive predictive value, and negative predictive value of this test. We also review overall clinical utility of this laboratory measure and briefly discuss new point-of-care techniques designed to overcome the SCST's shortcomings.

16.
Sci Rep ; 14(1): 16184, 2024 Jul 13.
Artículo en Inglés | MEDLINE | ID: mdl-39003317

RESUMEN

Marine fisheries are increasingly impacted by climate change, affecting species distribution and productivity, and necessitating urgent adaptation efforts. Climate vulnerability assessments (CVA), integrating expert knowledge, are vital for identifying species that could thrive or suffer under changing environmental conditions. This study presents a first CVA for the Western Baltic Sea's fish community, a crucial fishing area for Denmark and Germany. Characterized by a unique mix of marine, brackish, and freshwater species, this coastal ecosystem faces significant changes due to the combined effects of overfishing, eutrophication and climate change. Our CVA involved a qualitative expert scoring of 22 fish species, assessing their sensitivity and exposure to climate change. Our study revealed a dichotomy in climate change vulnerability within the fish community of the Western Baltic Sea because traditional fishing targets cod and herring as well as other species with complex life histories are considered to face increased risks, whereas invasive or better adaptable species might thrive under changing conditions. Our findings hence demonstrate the complex interplay between life-history traits and climate change vulnerability in marine fish communities. Eventually, our study provides critical knowledge for the urgent development of tailored adaptation efforts addressing existing but especially future effects of climate change on fish and fisheries in the Western Baltic Sea, to navigate this endangered fisheries systems into a sustainable future.


Asunto(s)
Cambio Climático , Explotaciones Pesqueras , Peces , Océanos y Mares , Animales , Peces/fisiología , Ecosistema , Conservación de los Recursos Naturales , Alemania , Dinamarca , Biodiversidad
17.
Front Psychol ; 15: 1353419, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-38988402

RESUMEN

An item bank is key to applying computerized adaptive testing (CAT). The traditional approach to developing an item bank requires content experts to design each item individually, which is a time-consuming and costly process. The cognitive design system (CDS) approach offers a solution by automating item generation. However, the CDS approach has a specific way of calibrating or predicting item difficulty that affects the measurement efficiency of CAT. A simulation study was conducted to compare the efficiency of CAT using both calibration and prediction models. The results show that, although the predictive model (linear logistic trait model; LLTM) shows a higher root mean square error (RMSE) than the baseline model (Rasch), it requires only a few additional items to achieve comparable RMSE. Importantly, the number of additional items needed decreases as the explanatory rate of the model increases. These results indicate that the slight reduction in measurement efficiency due to prediction item difficulty is acceptable. Moreover, the use of prediction item difficulty can significantly reduce or even eliminate the need for item pretesting, thereby reducing the costs associated with item calibration.

18.
Front Psychiatry ; 15: 1424966, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-38988741

RESUMEN

Introduction: Borderline Personality Disorder (BPD) traits play a crucial role in the prognosis of psychiatric disorders, as well as in assessing risks associated with negativity and impulsivity. However, there is a lack of data regarding the distribution characteristics of BPD traits and symptoms within clinical populations. Methods: A total of 3015 participants (1321 males, 1694 females) were consecutively sampled from outpatients at the psychiatric and psycho-counseling clinics at the Shanghai Mental Health Center. BPD symptoms were assessed using a self-reported personality diagnostic questionnaire. Having BPD traits is defined as having five or more positive items in self-reported BPD characteristics. Participants were stratified into male and female groups, age groups, and diagnostic groups (schizophrenia, mood disorders, anxiety disorders). Exploratory factor analysis using principal components analysis was conducted. Three factors were identified: "F1: Affective Instability and Impulsivity", "F2: Interpersonal Unstable and Extreme Reactions", and "F3: Identity Disturbance". Results: Among 3015 participants, 45.9% of the patients self-reported BPD traits. Comparing of male and female patients, there was no statistically significant difference in the occurrence rate of BPD traits (χ2 = 1.835, p=0.176). However, in terms of symptoms, female patients reported more symptoms than male patients. Female patients also exhibited more pronounced features on F2 compared to male patients (t =-1.972, p=0.049). There is a general decrease in BPD traits, symptoms, and factors with increasing age. Specifically, the proportion of positive BPD traits is approximately halved before the age of 30 and decreases to around one-third after the age of 30. BPD traits were most common in the Mood Disorders group at 55.7%, followed by the Anxiety Disorders group at 44.4%, and Schizophrenia group at 41.5% (χ2 = 38.084, p<0.001). Discussion: Our study revealed the pervasive presence of BPD traits and symptoms among psychiatric outpatients, exhibiting distinctive distributions across gender, age, and diagnostic categories. These findings emphasize the significance of identifying and addressing BPD pathology in the clinical care of psychiatric outpatients.

19.
EBioMedicine ; 106: 105232, 2024 Jul 10.
Artículo en Inglés | MEDLINE | ID: mdl-38991381

RESUMEN

BACKGROUND: Abdominal obesity increases the risk for non-alcoholic fatty liver disease (NAFLD), now known as metabolic dysfunction-associated steatotic liver disease (MASLD). METHODS: To elucidate the directional cell-type level biological mechanisms underlying the association between abdominal obesity and MASLD, we integrated adipose and liver single nucleus RNA-sequencing and bulk cis-expression quantitative trait locus (eQTL) data with the UK Biobank genome-wide association study (GWAS) data using colocalization. Then we used colocalized cis-eQTL variants as instrumental variables in Mendelian randomization (MR) analyses, followed by functional validation experiments on the target genes of the cis-eQTL variants. FINDINGS: We identified 17 colocalized abdominal obesity GWAS variants, regulating 17 adipose cell-type marker genes. Incorporating these 17 variants into MR discovers a putative tissue-of-origin, cell-type-aware causal effect of abdominal obesity on MASLD consistently with multiple MR methods without significant evidence for pleiotropy or heterogeneity. Single cell data confirm the adipocyte-enriched mean expression of the 17 genes. Our cellular experiments across human adipogenesis identify risk variant -specific epigenetic and transcriptional mechanisms. Knocking down two of the 17 genes, PPP2R5A and SH3PXD2B, shows a marked decrease in adipocyte lipidation and significantly alters adipocyte function and adipogenesis regulator genes, including DGAT2, LPL, ADIPOQ, PPARG, and SREBF1. Furthermore, the 17 genes capture a characteristic MASLD expression signature in subcutaneous adipose tissue. INTERPRETATION: Overall, we discover a significant cell-type level effect of abdominal obesity on MASLD and trace its biological effect to adipogenesis. FUNDING: NIH grants R01HG010505, R01DK132775, and R01HL170604; the European Research Council (ERC) under the European Union's Horizon 2020 research and innovation program (Grant No. 802825), Academy of Finland (Grants Nos. 333021), the Finnish Foundation for Cardiovascular Research the Sigrid Jusélius Foundation and the Jane and Aatos Erkko Foundation; American Association for the Study of Liver Diseases (AASLD) Advanced Transplant Hepatology award and NIH/NIDDK (P30DK41301) Pilot and Feasibility award; NIH/NIEHS F32 award (F32ES034668); Finnish Diabetes Research Foundation, Kuopio University Hospital Project grant (EVO/VTR grants 2005-2021), the Academy of Finland grant (Contract no. 138006); Academy of Finland (Grant Nos 335443, 314383, 272376 and 266286), Sigrid Jusélius Foundation, Finnish Medical Foundation, Finnish Diabetes Research Foundation, Novo Nordisk Foundation (#NNF20OC0060547, NNF17OC0027232, NNF10OC1013354) and Government Research Funds to Helsinki University Hospital; Orion Research Foundation, Maud Kuistila Foundation, Finish Medical Foundation, and University of Helsinki.

20.
J Evol Biol ; 2024 Jul 11.
Artículo en Inglés | MEDLINE | ID: mdl-38991560

RESUMEN

To quantify selection acting on a trait, methods have been developed using either within or between-species variation. However, methods using within-species variation do not integrate the changes at the macroevolutionary scale. Conversely, current methods using between-species variation usually discard within-species variation, thus not accounting for processes at the micro-evolutionary scale. The main goal of this study is to define a neutrality index for a quantitative trait, by combining withinand between-species variation. This neutrality index integrates nucleotide polymorphism and divergence for normalizing trait variation. As such, it does not require estimation of population size nor of time of speciation for normalization. Our index can be used to seek deviation from the null model of neutral evolution, and test for diversifying selection. Applied to brain mass and body mass at the mammalian scale, we show that brain mass is under diversifying selection. Finally, we show that our test is not sensitive to the assumption that population sizes, mutation rates and generation time are constant across the phylogeny, and automatically adjust for it.

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