Division of Neurogenetics and Developmental Pediatrics, Children's National Hospital, Washington DC, USA. Electronic address: ksen2@childrensnational.org.
Center for Inherited Disorders of Energy Metabolism, University Hospitals Cleveland Medical Center, Cleveland, OH, USA; Department of Genetics and Genome Sciences, Case Western Reserve University, Cleveland, USA; Department of Pediatrics, Case Western Reserve University, Cleveland, USA.
Departamento de Genetica Humana, Unidade de Investigacao e Desenvolvimento, Instituto Nacional de Saude Dr Ricardo Jorge (INSA, IP), Rua Alexandre Herculano 321, 4000-055 Porto, Portugal; ICBAS, University of Porto, 4099-002 Porto, Portugal; CECA, ICETA, University of Porto, 4099-002 Porto, Portugal.
Departamento de Genetica Humana, Unidade de Investigacao e Desenvolvimento, Instituto Nacional de Saude Dr Ricardo Jorge (INSA, IP), Rua Alexandre Herculano 321, 4000-055 Porto, Portugal; ICBAS, University of Porto, 4099-002 Porto, Portugal; CECA, ICETA, University of Porto, 4099-002 Porto, Portugal.
Departamento de Genetica Humana, Unidade de Investigacao e Desenvolvimento, Instituto Nacional de Saude Dr Ricardo Jorge (INSA, IP), Rua Alexandre Herculano 321, 4000-055 Porto, Portugal.
Departamento de Genetica Humana, Unidade de Investigacao e Desenvolvimento, Instituto Nacional de Saude Dr Ricardo Jorge (INSA, IP), Rua Alexandre Herculano 321, 4000-055 Porto, Portugal.
Deprtamento de Ciências Biomédicas e Medicina, Centre for Biomedical Research (CBMR), ABC-Algarve Biomedical Centre, University of Algarve, Campus of Gambelas, 8005-139 Faro, Portugal.
Departamento de Genetica Humana, Unidade de Investigacao e Desenvolvimento, Instituto Nacional de Saude Dr Ricardo Jorge (INSA, IP), Rua Alexandre Herculano 321, 4000-055 Porto, Portugal; CECA, ICETA, University of Porto, 4099-002 Porto, Portugal. Electronic address: olga.amaral@insa.min-saude.pt.
Alzheimer's disease (AD) is a prevalent type of dementia in elderly populations with a significant genetic component. The accumulating evidence suggests that AD involves a reconfiguration of the epige...
Autoimmune diseases and coronavirus disease 2019 (COVID-19) share many similarities. Concerns have arisen that autoimmune diseases may increase the susceptibility and severity of COVID-19. We used Men...
Hemophagocytic lymphohistiocytosis (HLH) is a disorder of impaired immune regulation resulting in hyperinflammation that is ultimately fatal if not treated. HLH is categorized into familial disease, c...
Childhood cancer is rare, but it remains the leading cause of disease-related mortality among children 1-14 years of age. As exposure to environmental factors is lower in children, inherited genetic f...
Current literature suggests that 10-18% of paediatric cancer patients have an underlying genetic susceptibility to their disease. With better knowledge and technology, more genes and syndromes are bei...
This review summarizes the current knowledge about different cancer predisposition syndromes, focusing on the diagnosis, genetic counselling, surveillance and future directions....
The causalities between the coronavirus disease 2019 (COVID-19) and the risk of rheumatic diseases remain unclear. The purpose of this study was to investigate the causal effect of COVID-19 on rheumat...
Single nucleotide polymorphisms (SNPs), acquired from published genome-wide association studies, were used to perform 2-sample Mendelian randomization (MR) on cases diagnosed with COVID-19 (n = 13 464...
The results revealed a causality between COVID-19 and rheumatic diseases with an odds ratio (OR) of 1.010 (95% confidence interval [CI], 1.006-1.013; P = .014). In addition, we observed that COVID-19 ...
This is the first study to use MR to explore the impact of COVID-19 on rheumatic diseases. From a genetic perspective, we found that COVID-19 could increase the risk of rheumatic diseases, such as PBC...
Diets rich in plant-based foods are associated with lower risks of non-alcoholic fatty liver disease (NAFLD), while the prospective evidence is limited. We aimed to examine longitudinal associations o...
This longitudinal cohort study included 159,222 participants (58.0 ± 8.0 years old, 55.7% female) free of NAFLD in the UK Biobank. We calculated the overall plant-based diet index (PDI), the healthful...
During a median follow-up of 9.5 years, 1541 new-onset NAFLD cases were documented. Compared to the lowest quintile, multivariable-adjusted hazard ratios (HRs) of NAFLD in the highest quintile were 0....
Higher intake of plant-based diets especially healthful plant-based diets was associated with lower NAFLD risk and liver fat content regardless of genetic susceptibility, whereas an unhealthful plant-...
Accumulating evidence has indicated that persistent human cytomegalovirus (HCMV) infection is associated with several cardiovascular diseases including atherosclerosis and coronary artery disease. How...
Single-nucleotide polymorphisms associated with anti-cytomegalovirus immunoglobulin (Ig) G levels were used as instrumental variables to estimate the causal effect of anti-cytomegalovirus IgG levels o...
In the IVW analysis, genetically predicted anti-cytomegalovirus IgG levels were suggestively associated with coronary artery disease with an odds ratio (OR) of 1.076 [95% CI, 1.009-1.147; p = 0.025], ...
Our findings first provide direct evidence that genetic predisposition of anti-cytomegalovirus IgG levels increases the risk of coronary artery disease, peripheral artery disease, and deep vein thromb...
The implementation of next-generation sequencing technologies has provided a sharp picture of the genetic variability in the components and regulators of the alternative pathway (AP) of the complement...
Current evidence on the relations of residential greenness with glucose homeostasis and type 2 diabetes (T2D) remained largely uncertain. Most importantly, no prior studies have investigated whether g...
We leveraged data from the UK Biobank prospective cohort study, with participants enrolled between 2006 and 2010. Residential greenness was assessed by using the Normalized Difference Vegetation Index...
Among 315,146 individuals (mean [SD] age, 56.59 [8.09] years), each one-unit increase in residential greenness was associated with reduction in HbA...
We add novel evidence that residential greenness has protective effects on glucose metabolism and T2D, and those beneficial effects can be amplified by low genetic risk. Our findings may facilitate th...
Thyroid hormones have actions on cartilage, whereas the association between thyroid hormone related diseases and osteoarthritis (OA) are unclear. This study aims to investigate the association between...
Summary-level genetic data of thyrotoxicosis were obtained from FinnGen cohorts (nCase = 10,569, nControl = 762,037). Summary-level data of OA were obtained from a large-scale genome-wide association ...
Genetic predisposition of thyrotoxicosis was associated with the onset of knee OA (autoimmune hyperthyroidism: odds ratio [OR]: 1.05, 95% confidence interval [CI]: 1.03-1.07, FDR < 0.001; thyrotoxicos...
This study provides MR evidence supporting causal association of thyrotoxicosis with knee OA in European population, whereas OA may have no causal effects on thyrotoxicosis....
