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Parkinson's Disease Pathogenic Variants: Cross-Ancestry Analysis and Microarray Data Validation.
medRxiv
December 2024
Integrative Neurogenomics Unit (INU), Laboratory of Neurogenetics, National Institutes of Health, Bethesda, USA.
Background: Known pathogenic variants in Parkinson's disease (PD) contribute to disease development but have yet to be fully explored by arrays at scale.
Objectives: This study evaluated genotyping success of the NeuroBooster array (NBA) and determined the frequencies of pathogenic variants across ancestries.
Method: We analyzed the presence and allele frequency of 34 pathogenic variants in 28,710 PD cases, 9,614 other neurodegenerative disorder cases, and 15,821 controls across 11 ancestries within the Global Parkinson's Genetics Program dataset.
Gene-level analysis reveals the genetic aetiology and therapeutic targets of schizophrenia.
Nat Hum Behav
January 2025
Department of Psychosomatics and Psychiatry, Zhongda Hospital, School of Medicine, Jiangsu Provincial Key Laboratory of Brain Science and Medicine, Advanced Institute for Life and Health, Southeast University, Nanjing, China.
Genome-wide association studies (GWASs) have reported multiple risk loci for schizophrenia (SCZ). However, the majority of the associations were from populations of European ancestry. Here we conducted a large-scale GWAS in Eastern Asian populations (29,519 cases and 44,392 controls) and identified ten Eastern Asian-specific risk loci, two of which have not been previously reported.
View Article and Find Full Text PDFPolygenic Risk Scores in Human Disease.
Clin Chem
January 2025
Center for Genomic Medicine, Department of Medicine, Massachusetts General Hospital, Boston, MA, United States.
Background: Polygenic risk scores (PRS) are measures of genetic susceptibility to human health traits. With the advent of large data repositories combining genetic data and phenotypic information, PRS are providing valuable insights into the genetic architecture of complex diseases and are transforming the landscape of precision medicine.
Content: PRS have emerged as tools with clinical utility in human disease.
Genetically Determined Plasma Docosahexaenoic Acid Showed a Causal Association with Female Reproductive Longevity-Related Phenotype: A Mendelian Randomization Study.
Nutrients
November 2024
Key Laboratory of Reproductive Genetics (Ministry of Education) and Department of Reproductive Endocrinology, Women's Hospital, Zhejiang University School of Medicine, Hangzhou 310006, China.
Background: Female reproductive aging remains irreversible. More evidence is needed on how polyunsaturated fatty acids (PUFAs) affect the female reproductive lifespan.
Objectives: To identify and validate specific PUFAs that can influence the timing of menarche and menopause in women.
One score to rule them all: regularized ensemble polygenic risk prediction with GWAS summary statistics.
bioRxiv
December 2024
Department of Biostatistics and Medical Informatics, University of Wisconsin-Madison, Madison, WI.
Ensemble learning has been increasingly popular for boosting the predictive power of polygenic risk scores (PRS), with almost every recent multi-ancestry PRS approach employing ensemble learning as a final step. Existing ensemble approaches rely on individual-level data for model training, which severely limits their real-world applications, especially in non-European populations without sufficient genomic samples. Here, we introduce a statistical framework to construct regularized ensemble PRS, which allows us to combine a large number of candidate PRS models using only summary statistics from genome-wide association studies.
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