A5072310267- Genetic Associations and Epidemiology
- Genetic Mapping and Diversity in Plants and Animals
- Gene expression and cancer classification
- Genetic and phenotypic traits in livestock
- Genomic variations and chromosomal abnormalities
- Genomics and Rare Diseases
- Hair Growth and Disorders
- Bioinformatics and Genomic Networks
- Skin and Cellular Biology Research
- Genetics and Plant Breeding
- Hormonal Regulation and Hypertension
- Connective tissue disorders research
- Statistical Methods in Clinical Trials
- Autoimmune Bullous Skin Diseases
- Diet and metabolism studies
- Adipose Tissue and Metabolism
- RNA regulation and disease
- Diabetes Treatment and Management
- Autism Spectrum Disorder Research
- Medical Imaging and Pathology Studies
- Diabetes Management and Research
- Obsessive-Compulsive Spectrum Disorders
- Growth Hormone and Insulin-like Growth Factors
- Urticaria and Related Conditions
- RNA Research and Splicing
Rutgers, The State University of New Jersey
2015-2024
Johnson University
2023
Pediatrics and Genetics
2004-2012
Erasmus University Rotterdam
2010
Medizinische Hochschule Hannover
2010
Columbia University
1999-2009
Boston Children's Hospital
2009
Harvard University
2009
New York State Psychiatric Institute
2009
Social and Scientific Systems (United States)
2009
The purpose of this work is to quantify the effects that errors in genotyping have on power and sample size necessary maintain constant asymptotic Type I II error rates (SSN) for case-control genetic association studies between a disease phenotype di-allelic marker locus, example single nucleotide polymorphism (SNP) locus. We consider three published models chi-square test independence 2 × 3 table. After specifying genotype frequencies locus conditional status model both model-based...
Adolescent idiopathic scoliosis (AIS) is an unexplained and common spinal deformity seen in otherwise healthy children. Its pathophysiology poorly understood despite intensive investigation. Although genetic underpinnings are clear, replicated susceptibility loci that could provide insight into etiology have not been forthcoming. To address these issues, we performed genome-wide association studies (GWAS) of ∼327 000 single nucleotide polymorphisms (SNPs) 419 AIS families. We found strongest...
Abstract Idiopathic scoliosis (IS) is a common paediatric musculoskeletal disease that displays strong female bias. By performing genome-wide association study (GWAS) of 3,102 individuals, we identify significant associations with 20p11.22 SNPs for females ( P =6.89 × 10 −9 ) but not males =0.71). This IS also found in independent cohorts from the United States America and Japan (overall =2.15 −10 , OR=1.30 (rs6137473)). Unexpectedly, risk alleles were previously associated protection...
Tourette disorder (TD) is poorly understood, despite affecting 1/160 children. A lack of animal models possessing construct, face, and predictive validity hinders progress in the field. We used CRISPR/Cas9 genome editing to generate mice with mutations orthologous human de novo variants two high-confidence genes, CELSR3 WWC1 . Mice Celsr3 Wwc1 exhibit cognitive and/or sensorimotor behavioral phenotypes consistent TD. Sensorimotor gating deficits, as measured by acoustic prepulse inhibition,...
The kappa opioid receptor (KOR) plays a role in stress responsivity, opiate withdrawal and responses to cocaine. KOR activation by its endogenous ligand dynorphin A(1-17) decreases basal drug-induced striatal levels of dopamine. complete structure the human gene (hOPRK1) has not been previously determined. This study: (i) characterized genomic hOPRK1 gene; (ii) identified single nucleotide polymorphisms (SNPs) (iii) investigated possible associations these variants with vulnerability develop...
Abstract Background Phenotype error causes reduction in power to detect genetic association. We present a quantification of phenotype error, also known as diagnostic on and sample size calculations for case-control association studies between marker locus disease phenotype. consider the classic Pearson chi-square test independence our To determine asymptotic analytically, we compute distribution's non-centrality parameter, which is function case control sizes, genotype frequencies,...
Idiopathic scoliosis (AIS) is the most common pediatric spinal deformity, affecting ∼3% of children worldwide. AIS significantly impacts national health in U. S. alone, creating disfigurement and disability for over 10% patients costing billions dollars annually treatment. Despite many investigations, underlying etiology IS poorly understood. Twin studies observations familial aggregation reveal significant genetic contributions to IS. Several features disease including potentially strong...
Single nucleotide polymorphisms (SNPs) are currently being developed for use in disequilibrium analyses. These SNPs consist of two alleles with varying degrees polymorphism. A natural design is the ‘haplotype relative risk’ sampling which a father, mother, and child typed at an SNP locus. Given such trio genotypes, we ask: what probability that pedigree error (a change from one allele to other) locus will be detected using only Mendel’s laws as check? We calculate detecting errors...
Abstract Which genotype misclassification errors are most costly, in terms of increased sample size necessary (SSN) to maintain constant asymptotic power and significance level, when performing case/control studies genetic association? We answer this question for single‐nucleotide polymorphisms (SNPs), using the 2×3 χ 2 test independence. Our strategy is expand noncentrality parameter distribution under a specified alternative hypothesis approximate SSN, linear Taylor series error...
Phenotype and/or genotype misclassification can: significantly increase type II error probabilities for genetic case/control association, causing decrease in statistical power; and produce inaccurate estimates of population frequency parameters. We present a method, the likelihood ratio test allowing errors (LRTae) that incorporates double-sample information phenotypes genotypes on sub-sample cases/controls. Population parameters are determined using procedure as implemented...