Combined genome-wide association study of 136 quantitative ear morphology traits in multiple populations reveal 8 novel loci.

Human ear morphology, a complex anatomical structure represented by a multidimensional set of correlated and heritable phenotypes, has a poorly understood genetic architecture. In this study, we quantitatively assessed 136 ear morphology traits using deep learning analysis of digital face images in 14,921 individuals from five different cohorts in Europe, Asia, and Latin America. Through GWAS meta-analysis and C-GWASs, a recently introduced method to effectively combine GWASs of many traits, we identified 16 genetic loci involved in various ear phenotypes, eight of which have not been previously associated with human ear features.

Association of serum lipids and abnormal lipid score with cancer risk: a population-based prospective study.

Background: Serum lipid levels are associated with cancer risk. However, there still have uncertainties about the single and combined effects of low lipid levels on cancer risk.

Methods: A prospective cohort study of 33,773 adults in Shanghai between 2016 and 2017 was conducted.

Global Burden, Risk Factor Analysis, and Prediction Study of Ischemic Stroke, 1990-2030.

Background And Objectives: Ischemic stroke (IS), 1 of the 2 main subtypes of stroke, occurs because of brain ischemia caused by thrombosis of a cerebral blood vessel. IS is one of the most important neurovascular causes of death and disability. It is affected by many risk factors, such as smoking and a high body mass index (BMI), which are also critical in the preventive control of other cardiovascular and cerebrovascular diseases.

Host Genetic Factors, Comorbidities and the Risk of Severe COVID-19.

Background: Coronavirus disease 2019 (COVID-19), caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), was varied in disease symptoms. We aim to explore the effect of host genetic factors and comorbidities on severe COVID-19 risk.

Methods: A total of 20,320 COVID-19 patients in the UK Biobank cohort were included.

The Hidden Dangers of Plant-Based Diets Affecting Bone Health: A Cross-Sectional Study with U.S. National Health and Nutrition Examination Survey (NHANES) Data from 2005-2018.

The plant-based dietary pattern has been recommended for its potential health and environmental benefits, but its association with bone loss needs to be further explored. This study aimed to investigate the association between three plant-based diet indexes and bone loss in 16,085 adults, using data from the National Health and Nutrition Examination Survey. Three plant-based diet indexes (PDI, hPDI, and uPDI) were calculated from two NHANES 24-h dietary recall interviews, to characterize a plant-based diet.

The Regulatory Axis of PD-L1 Isoform 2/TNF/T Cell Proliferation Is Required for the Canonical Immune-Suppressive Effects of PD-L1 Isoform 1 in Liver Cancer.

Despite the well-studied effects of the full-length membrane-locating isoform Iso1 of Programmed Cell Death Protein-Ligand 1 (PD-L1) on immunosuppression, little is known about another membrane-locating isoform, Iso2. While expressional and survival analysis of liver cancer patients indicated that Iso2 plays a tumor-suppressive role, our results also indicated that the tumor-promoting and immune-suppressive effects of Iso1 depended on the positive expression of Iso2. Through mediation analysis, we discovered several downstream genes or pathways of Iso2 and investigated their effects on the Iso1-regulating survival.

Characteristics and long-term mortality of patients with non-MAFLD hepatic steatosis.

Background & Aims: A cluster of hepatic steatosis without metabolic abnormalities has been excluded by the MAFLD definition, referred to as non-MAFLD steatosis. We aimed to characterize the non-MAFLD steatosis.

Methods: We included 16,308 individuals from the UK Biobank who had magnetic resonance imaging-derived proton density fat fraction (MRI-PDFF) to describe the clinical and genetic features of non-MAFLD steatosis in a cross-sectional design, and 14,797 individuals of the NHANES III who underwent abdominal ultrasonography at baseline to assess the long-term mortality of non-MAFLD steatosis in a prospective cohort design.

Investigating the Effect of Metabolic Phenotypes on Health Events in Alcoholic and Nonalcoholic Fatty Liver Disease.

Background And Aims: Metabolic dysfunction and obesity commonly coexist with both alcoholic and nonalcoholic fatty liver disease (AFLD and NAFLD). The association of AFLD and NAFLD with incident diseases in individuals with different metabolic phenotypes are unclear.

Methods: UK Biobank study participants were screened for the presence of fatty liver at baseline.

Metagenomic association analysis of cognitive impairment in community-dwelling older adults.

The gut microbiota is reportedly involved in neurodegenerative disorders, and exploration of differences in the gut microbiota in different cognitive status could provide clues for early detection and intervention in cognitive impairment. Here, we used data from the Taizhou Imaging Study (N = 516), a community-based cohort, to compare the overall structure of the gut microbiota at the species level through metagenomic sequencing, and to explore associations with cognition. Interestingly, bacteria capable of producing short-chain fatty acids (SCFAs), such as Bacteroides massiliensis, Bifidobacterium pseudocatenulatum, Fusicatenibacter saccharivorans and Eggerthella lenta, that can biotransform polyphenols, were positively associated with better cognitive performance (p < 0.

Trace elements in hair or fingernail and gastroesophageal cancers: results from a population-based case-control study.

Background: Growing evidence suggests that environmental factors probably play important roles in the development of gastroesophageal cancers (GOC), however, the effects of trace elements on GOC remain unclear.

Objective: To assess the effect of trace elements on GOC and the effect modification by other factors.

Methods: Hair and fingernail samples were collected from GOC cases and controls in a population-based case-control study in Taixing, China, and were used to detect the concentrations of 12 trace elements using inductively coupled plasma mass spectrometry.

Scalp hair loss is not random across follicular units: A new insight into human hair ageing.

Objectives: Scalp hair has the greatest number of hairs (typically 1-5) per follicular unit but is also the most susceptible body site to hair loss with age. Hence, we set-out to determine the degree to which scalp hair parameters change with age in women and men, any sex differences thereof and whether hair loss is random across follicular units.

Methods: A retrospective cross-sectional study of 200 Chinese men and 200 Chinese women (30-69 years).

Positive hepatitis B core antibody is associated with advanced fibrosis and mortality in nonalcoholic fatty liver disease.

Objective: Concomitant hepatitis B virus infection and nonalcoholic fatty liver disease (NAFLD) are relatively common, while little is known about the impact of anti-hepatitis B core antibody (anti-HBc) on NAFLD individuals. We aimed to investigate the association of positive anti-HBc with advanced fibrosis and mortality in NAFLD.

Methods: We analyzed data from 3268 NAFLD participants who underwent abdominal ultrasonography during the Third National Health and Nutrition Examination Survey (NHANES III).

The effects of altered DNA damage repair genes on mutational processes and immune cell infiltration in esophageal squamous cell carcinoma.

Background: Defects in DNA damage repair (DDR) pathways lead to genomic instability and oncogenesis. DDR deficiency is prevalent in esophageal squamous cell carcinoma (ESCC), but the effects of DDR alterations on mutational processes and tumor immune microenvironment in ECSS remain unclear.

Methods: Whole-exome and transcriptome sequencing data of 45 ESCC samples from Taizhou, China, were used to identify genomic variations, gene expression modulation in DDR pathways, and the abundance of tumor-infiltrating immune cells.

Low thyroid function is associated with an increased risk of advanced fibrosis in patients with metabolic dysfunction-associated fatty liver disease.

Aims: Observational studies showed that low thyroid function may perturb liver function. We aimed to evaluate the association of low thyroid function with both metabolic dysfunction-associated fatty liver disease (MAFLD) and advanced hepatic fibrosis.

Methods: Participants who underwent abdominal ultrasonography and thyroid function test in a Chinese hospital from 2015 to 2021were enrolled.

The association between thyroid hormones and MAFLD is mediated by obesity and metabolic disorders and varies among MAFLD subtypes.

Background: Thyroid hormone (TH) disorders increased the risk of metabolic dysfunction-associated fatty liver disease (MAFLD).

Aim: To assess whether the association between TH and MAFLD is mediated via metabolic dysfunctions and varies among MAFLD subtypes (diabetes-MAFLD, overweight/obesity-MAFLD, metabolic disorders-MAFLD).

Methods: A total of 18,427 participants (661 diabetes-MAFLD, 3,600 overweight/obesity-MAFLD, 691 metabolic disorder-MAFLD cases, 13,475 non-MAFLD controls) from a Chinese hospital were enrolled.

Molecular subtyping of esophageal squamous cell carcinoma by large-scale transcriptional profiling: Characterization, therapeutic targets, and prognostic value.

The tumor heterogeneity of the transcriptional profiles is independent of genetic variation. Several studies have successfully identified esophageal squamous cell carcinoma (ESCC) subtypes based on the somatic mutation profile and copy number variations on the genome. However, transcriptome-based classification is limited.

CMB-HUNT: Automatic detection of cerebral microbleeds using a deep neural network.

Cerebral microbleeds (CMBs) are gaining increasing interest due to their importance in diagnosing cerebral small vessel diseases. However, manual inspection of CMBs is time-consuming and prone to human error. Existing automated or semi-automated solutions still have insufficient detection sensitivity and specificity.

Alcohol consumption and hepatocellular carcinoma: novel insights from a prospective cohort study and nonlinear Mendelian randomization analysis.

Background: Heavy drinking was well associated with an increased risk of hepatocellular carcinoma (HCC), whereas the effect of low-to-moderate drinking on HCC remains under debate.

Methods: Participants from the UK Biobank with detailed information on alcohol use and free of common diseases were included. Daily pure alcohol intake (g/day) was calculated, and the predominant alcoholic beverage type was assigned for each participant.

The role of metabolites under the influence of genes and lifestyles in bone density changes.

Purpose: Osteoporosis is a complex bone disease influenced by numerous factors. Previous studies have found that some metabolites are related to bone mineral density (BMD). However, the associations between metabolites and BMD under the influence of genes and lifestyle have not been fully investigated.

Global Burden of Nonalcoholic Fatty Liver Disease, 1990 to 2019: Findings From the Global Burden of Disease Study 2019.

Background: Nonalcoholic fatty liver disease (NAFLD) is the leading cause of chronic liver diseases worldwide. We provided a comprehensive description regarding the disease burden of NAFLD in 204 countries and territories.

Materials And Methods: We reported the deaths and disability-adjusted life years (DALYs) related to NAFLD in the Global Burden of Disease database by sex, age, specific causes, and regions.

Dissecting causal relationships between nonalcoholic fatty liver disease proxied by chronically elevated alanine transaminase levels and 34 extrahepatic diseases.

Background: Nonalcoholic fatty liver disease (NAFLD) is prevalent worldwide and is associated with the risk of many extrahepatic diseases. However, whether NAFLD is a risk marker or a common cause of extrahepatic diseases is unclear.

Methods: We searched PubMed to identify NAFLD-related extrahepatic diseases.

The Effects of Brain Magnetic Resonance Imaging Indices in the Association of Olfactory Identification and Cognition in Chinese Older Adults.

Background: Olfactory identification dysfunction frequently occurs in individuals with cognitive decline; however, a pathological mechanism linking the two has not been discovered. We aimed to study the association between olfactory identification and cognitive function, and determine the effects of brain regions atrophy therein.

Methods: A total of 645 individuals (57.

Thyroid Stimulating Hormone Levels Are Associated With Genetically Predicted Nonalcoholic Fatty Liver Disease.

Context: Findings from observational studies indicate an association of thyroid hormone levels with the risk of nonalcoholic fatty liver disease (NAFLD); however, conflicting results remain and reverse causality may be a possibility.

Objective: This study aimed to evaluate the associations between NAFLD and both plasma thyroxine (T4) and thyroid stimulating hormone (TSH) at the phenotypic and genetic levels.

Methods: We included 14 797 participants, aged 20 to 74 years who had undergone abdominal ultrasonography during the Third National Health and Nutrition Examination Survey (NHANES III).