Publications by authors named "Xueqiu Jian"
Unlabelled: Neurodegenerative disorders, including Alzheimer's disease and AD-related dementias (AD/ADRD), pose significant challenges to health care systems globally, particularly in Africa. With the advances in medical technology and research capabilities, especially in next-generation sequencing and imaging, vast amounts of data have been generated from AD/ADRD research. Given that the greatest increase in AD/ADRD prevalence is expected to occur in Africa, it is critical to establish comprehensive bioinformatics training programs to help African scientists leverage existing data and collect additional information to untangle AD/ADRD heterogeneity in African populations.
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- - We conducted a study on 7,140 Hispanic and Latino adults to identify genetic regions linked to cognitive abilities through admixture and fine-mapping analyses.
- - We found nine regions in the genome associated with cognitive function, and three of these regions showed strong statistical evidence for supporting genes related to cognitive functioning and dementia.
- - Our findings enhance the understanding of how ancestry influences cognitive abilities, showcasing the effectiveness of admixture mapping in identifying unique genetic variants relevant to cognitive function.
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- * Neuroimaging reveals that many of these genetic variants have widespread effects on brain regions and are linked to various cancers and specific signaling pathways, such as p53 and Wnt.
- * The findings suggest a connection between the genes that regulate head size and the likelihood of cancer, emphasizing the need for further research on the implications of this relationship.
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- - Cerebral small vessel disease is a major factor in strokes and cognitive decline, but specific genetic causes are not well understood; this study explores genetic links using data from large cohorts of older individuals with MRI scans and genetic profiles.
- - The researchers found significant associations with extreme small vessel disease at 11 genomic loci; notably, a new association was identified at chr12q24.11, and common variants in the EFEMP1 and TRIM47 genes were linked to disease severity.
- - The study suggests that the severity of small vessel disease is causally associated with higher risks for stroke and Alzheimer's; TRIM47, in particular, plays a crucial role in brain vascular health and is enriched in brain endothelial cells.
Characterization of the genetic landscape of Alzheimer's disease (AD) and related dementias (ADD) provides a unique opportunity for a better understanding of the associated pathophysiological processes. We performed a two-stage genome-wide association study totaling 111,326 clinically diagnosed/'proxy' AD cases and 677,663 controls. We found 75 risk loci, of which 42 were new at the time of analysis.
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- Measures of information processing speed vary among individuals and decline with age, with studies indicating that genetic factors account for up to 67% of the variation in older adults.
- Researchers used the Illumina HumanExome Bead Chip to analyze genetic variants' impact on the Digit-Symbol Substitution Test (DSST) scores in over 30,000 participants aged 45 and older, adjusting for age, gender, and education.
- Significant findings included variants in the RNF19A gene among Europeans and suggestive associations for genes such as SLC22A7 and OR51A7 among African-Americans, highlighting the need for further research on the role of these genes in cognitive function.
Genetic discoveries of Alzheimer's disease are the drivers of our understanding, and together with polygenetic risk stratification can contribute towards planning of feasible and efficient preventive and curative clinical trials. We first perform a large genetic association study by merging all available case-control datasets and by-proxy study results (discovery n = 409,435 and validation size n = 58,190). Here, we add six variants associated with Alzheimer's disease risk (near APP, CHRNE, PRKD3/NDUFAF7, PLCG2 and two exonic variants in the SHARPIN gene).
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- Alzheimer's disease (AD) is the leading type of dementia, affecting 35 million people globally, with the APOE ε4 allele significantly increasing the risk of late-onset AD.
- The ADAPTED consortium conducted a comprehensive analysis using various OMICS technologies to explore the effects of APOE on AD, identifying relevant genes and pathways both influenced by and independent of APOE.
- The study discovered a set of biomarkers that display contrasting profiles in plasma and brain for different AD cases, which could help develop blood tests for the disease, highlighting the effectiveness of integrating multiple OMICS data for better understanding AD.
White matter hyperintensities (WMH) are the most common brain-imaging feature of cerebral small vessel disease (SVD), hypertension being the main known risk factor. Here, we identify 27 genome-wide loci for WMH-volume in a cohort of 50,970 older individuals, accounting for modification/confounding by hypertension. Aggregated WMH risk variants were associated with altered white matter integrity (p = 2.
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- Cortical characteristics like thickness, surface area, and volume change with age, cognitive function, and various neurological and psychiatric disorders.
- A study of 22,824 individuals from multiple cohorts evaluated genetic factors influencing these brain measures, identifying 160 significant genetic associations linked to specific biological pathways.
- Findings suggest a genetic connection between cortical traits and factors related to physical development, brain health, and mental illnesses, providing valuable insights for future research on brain changes with aging.
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- * Four cognitive tests were used to identify novel genetic loci associated with cognitive performance, revealing ties to genes linked to neurological diseases.
- * The research generates a resource for future studies on cognitive function in the Hispanic/Latino population, offering insight into potential biological mechanisms underlying cognition.
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- * Two principal components were identified: PC1 which captures global variations in surface area across most cortical regions, and PC2 specifically associated with visual regions.
- * We found that genetic loci linked to PC1 correlate with general cognitive functions, while those linked to PC2 are related to visual aptitudes, indicating that variations in brain structure may influence occupational choices.
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- Subcortical brain structures play key roles in motion, emotions, learning, and consciousness, and their volumes are influenced by genetic variations.
- A study analyzed nearly 40,000 individuals, discovering that variations in the volumes of key brain regions are heritable and identified 48 genetic loci linked to these volumes, with 40 being previously unknown.
- The identified genes are connected to various biological processes, suggesting they could be crucial for understanding brain development, neurological disorders, and possible drug targets.
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- The study aims to find new blood-based biomarkers and understand disease risk factors related to ischemic stroke (IS) using serum metabolomics profiling in a large community study.
- It involved analyzing serum metabolites from 3,904 participants and adjusting for various health-related factors to see their connection with incident IS.
- Results showed two specific fatty acid metabolites were strongly linked to the risk of IS, particularly cardioembolic stroke, suggesting new pathways for understanding and potentially preventing stroke.
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- The study explores a new method to identify genetic factors associated with cerebral small vessel disease in older adults by analyzing MRI data on white matter hyperintensities and brain infarcts.
- It uses whole exome sequencing from multiple population-based cohorts and focuses on specific candidate genes linked to Mendelian small vessel disease, such as HTRA1 and NOTCH3.
- The findings reveal significant genetic associations that suggest common mechanisms between rare and common forms of small vessel disease, highlighting the potential of using extreme phenotypes for gene mapping.
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- Late-onset Alzheimer's disease (LOAD) is the most common type of dementia and is influenced by genetics.
- Researchers studied a lot of people (94,437) to find specific genes that may increase the risk of developing LOAD, confirming 20 known ones and discovering 5 new ones.
- They also found that certain genetic traits related to the immune system and how the brain processes proteins are linked to a higher risk of LOAD, suggesting there are more rare genes yet to be identified that could also play a role.
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- The study aims to investigate the genetic and lifestyle factors that contribute to MRI-defined brain infarcts (BI) using large population cohorts.
- Researchers conducted meta-analyses on data from 18 cohorts, revealing a 17.7% prevalence of BI, particularly increasing after age 65, and identified two significant genetic loci associated with BI.
- High blood pressure and its genetic risk factors emerged as the most significant modifiable risk factors for BI, highlighting the need for more extensive datasets to confirm the findings.
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- The apoE4 isoform is linked to higher cholesterol levels, an increased risk for cardiovascular issues, and a greater chance of developing Alzheimer's Disease, but its prevalence among US Latinos is unclear.
- Latino populations in the US have diverse genetic backgrounds due to their mixed Amerindian, European, and African ancestry, which varies by region.
- This report aims to analyze the distribution of the apoE4 isoform within a large sample of genetically diverse US Latinos to improve understanding of disease risk in this significant demographic.
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- The study investigates the genetic factors influencing the volume of lateral ventricles (LV) in the brain, which increases with age and is linked to various neurological disorders.
- Researchers analyzed genome-wide data from over 23,000 healthy individuals and identified 7 specific genetic loci related to LV volume, associated with critical brain pathways.
- A notable genetic connection was found between the lateral ventricles and the thalamus, indicating potential shared biological mechanisms influencing brain structure.
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- * They tested about 1.5 million genetic variants using various models, identifying 16 significant single variants and 19 associated genes, which were then replicated in independent datasets to confirm their findings.
- * Notably, they found new genetic variants in genes linked to Alzheimer's, including the immunoglobulin gene IGHG3 and the novel regulatory genes AC099552.4 and ZNF655, highlighting the potential role of gene regulation in the development of the disease. *