G. David Poznik
A5010440433- Genetic Associations and Epidemiology
- Forensic and Genetic Research
- Genomics and Phylogenetic Studies
- Parkinson's Disease Mechanisms and Treatments
- Genetic diversity and population structure
- Chronic Kidney Disease and Diabetes
- Forensic Anthropology and Bioarchaeology Studies
- Molecular Biology Techniques and Applications
- Neurological diseases and metabolism
- Genetic Mapping and Diversity in Plants and Animals
- Genomic variations and chromosomal abnormalities
- Race, Genetics, and Society
- Nutrition, Genetics, and Disease
- Music and Audio Processing
- Genetic and phenotypic traits in livestock
- Sleep and related disorders
- Autism Spectrum Disorder Research
- Genetics and Neurodevelopmental Disorders
- Renal Diseases and Glomerulopathies
- Genomics and Chromatin Dynamics
- Neuroscience and Music Perception
- Liver Disease Diagnosis and Treatment
- Colonialism, slavery, and trade
- Nonmelanoma Skin Cancer Studies
- Cognitive Abilities and Testing
23andMe (United States)
2016-2024
Stanford University
2013-2023
University of Exeter
2023
Joslin Diabetes Center
2005-2011
Harvard University
2005-2011
Abstract Daytime napping is a common, heritable behavior, but its genetic basis and causal relationship with cardiometabolic health remain unclear. Here, we perform genome-wide association study of self-reported daytime in the UK Biobank ( n = 452,633) identify 123 loci which 61 replicate 23andMe research cohort 541,333). Findings include missense variants established drug targets for sleep disorders HCRTR1 , HCRTR2 ), genes roles arousal TRPC6 PNOC suggesting an obesity-hypersomnolence...
OBJECTIVE Despite extensive evidence for genetic susceptibility to diabetic nephropathy, the identification of genes and their variants has had limited success. To search that contribute a genome-wide association scan was implemented on Genetics Kidneys in Diabetes collection. RESEARCH DESIGN AND METHODS We genotyped ∼360,000 single nucleotide polymorphisms (SNPs) 820 case subjects (284 with proteinuria 536 end-stage renal disease) 885 control type 1 diabetes. Confirmation implicated SNPs...
The Y chromosome and the mitochondrial genome have been used to estimate when common patrilineal matrilineal ancestors of humans lived. We sequenced genomes 69 males from nine populations, including two in which we find basal branches Y-chromosome tree. identify ancient phylogenetic structure within African haplogroups resolve a long-standing ambiguity deep Applying equivalent methodologies genome, time most recent ancestor (T(MRCA)) be 120 156 thousand years T(MRCA) 99 148 years. Our...
Kennewick Man, a 8,500-year-old male human skeleton discovered in Washington state, USA, has been the subject of scientific and legal controversy; here DNA analysis shows that Man is closer to modern Native Americans than any other extant population worldwide. 9,000-year-old USA 1996. The affinities remains have controversy. Initial studies based on morphology suggested was not American affinity. Eske Willerslev colleagues now present showing fact referred as Ancient One by Americans, state...
Abstract Irritable bowel syndrome (IBS) results from disordered brain–gut interactions. Identifying susceptibility genes could highlight the underlying pathophysiological mechanisms. We designed a digestive health questionnaire for UK Biobank and combined identified cases with IBS independent cohorts. conducted genome-wide association study 53,400 433,201 controls replicated significant associations in 23andMe panel (205,252 1,384,055 controls). Our confirmed six genetic loci IBS. Implicated...
Abstract Reading and writing are crucial life skills but roughly one in ten children affected by dyslexia, which can persist into adulthood. Family studies of dyslexia suggest heritability up to 70%, yet few convincing genetic markers have been found. Here we performed a genome-wide association study 51,800 adults self-reporting diagnosis 1,087,070 controls identified 42 independent significant loci: 15 genes linked cognitive ability/educational attainment, 27 new potentially more specific...
Although over 90 independent risk variants have been identified for Parkinson's disease using genome-wide association studies, most studies performed in just one population at a time. Here we large-scale multi-ancestry meta-analysis of with 49,049 cases, 18,785 proxy cases and 2,458,063 controls including individuals European, East Asian, Latin American African ancestry. In meta-analysis, 78 significant loci, 12 potentially novel loci (MTF2, PIK3CA, ADD1, SYBU, IRS2, USP8, PIGL, FASN, MYLK2,...
Moving in synchrony to the beat is a fundamental component of musicality. Here we conducted genome-wide association study identify common genetic variants associated with synchronization 606,825 individuals. Beat exhibited highly polygenic architecture, 69 loci reaching significance (P < 5 × 10
Abstract Impulsivity is a multidimensional heritable phenotype that broadly refers to the tendency act prematurely and associated with multiple forms of psychopathology, including substance use disorders. We performed genome-wide association studies (GWAS) eight impulsive personality traits from Barratt Impulsiveness Scale short UPPS-P Impulsive Personality ( N = 123,509–133,517 23andMe research participants European ancestry), measure Drug Experimentation 130,684). Because these GWAS...
According to historical records of transatlantic slavery, traders forcibly deported an estimated 12.5 million people from ports along the Atlantic coastline Africa between 16th and 19th centuries, with global impacts reaching present day, more than a century half after slavery's abolition. Such have fueled broad understanding forced migration Americas yet remain underexplored in concert genetic data. Here, we analyzed genotype array data 50,281 research participants, which—combined shipping...
Significance The transatlantic slave trade resulted in the forced movement of over 12 million Africans to Americas. Although many coastal shipping points are known, they do not necessarily reflect slaves’ actual ethnic or geographic origins. We obtained genome-wide data from 17th-century remains three enslaved individuals who died on Caribbean island Saint Martin and use them identify their genetic origins Africa, with far greater precision than previously thought possible. study...
Sequencing the genomes of extinct hominids has reshaped our understanding modern human origins. Here, we analyze ∼120 kb exome-captured Y-chromosome DNA from a Neandertal individual El Sidrón, Spain. We investigate its divergence orthologous chimpanzee and sequences find strong support for model that places lineage as an outgroup to Y chromosomes-including A00, highly divergent basal haplogroup. estimate time most recent common ancestor (TMRCA) chromosomes is ∼588 thousand years ago (kya)...
Abstract We have developed an algorithm to rapidly and accurately identify the Y-chromosome haplogroup of each male in a sample one millions. The algorithm, implemented yHaplo * software package (yHaplo), does not rely on any particular genotyping modality or platform. Full sequences yield most granular classifications, but arrays can reliable calls, provided reasonable number phylogenetically informative variants has been assayed. is robust missing data, genotype errors, mutation...
Fox Insight is an online, longitudinal health study of people with and without Parkinson's disease targeted enrollment set to at least 125,000 individuals. data a rich facilitating discovery, validation, reproducibility in research. The dataset generated through routine assessments (health medical questionnaires evaluated regular cycles), one-time about environmental exposure healthcare preferences, genetic collection. Qualified Researchers can explore, analyze, download patient-reported...
Mouth ulcers are the most common ulcerative condition and encompass several clinical diagnoses, including recurrent aphthous stomatitis (RAS). Despite previous evidence for heritability, it is not clear which specific genetic loci implicated in RAS. In this genome-wide association study (n = 461,106) heritability estimated at 8.2% (95% CI: 6.4%, 9.9%). This finds 97 variants alter odds of developing non-specific mouth replicate these an independent cohort 355,744) (lead variant after...
Abstract Heart failure is a major public health problem affecting over 23 million people worldwide. In this study, we present the results of large scale meta-analysis heart GWAS and replication in comparable sized cohort to identify one known two novel loci associated with failure. sub-phenotyping shows that new locus chromosome 1 left ventricular adverse remodeling clinical failure, response different initial cardiac muscle insults. Functional characterization fine-mapping reveal putative...
Rapid-eye movement (REM) sleep behavior disorder (RBD), enactment of dreams during REM sleep, is an early clinical symptom alpha-synucleinopathies and defines a more severe subtype. The genetic background RBD its underlying mechanisms are not well understood. Here, we perform genome-wide association study RBD, identifying five risk loci near SNCA, GBA, TMEM175, INPP5F, SCARB2. Expression analyses highlight SNCA-AS1 potentially SCARB2 differential expression in different brain regions with...