Guia Guffanti
Harvard University, Psychiatry, Faculty Member
Research Interests:
Research Interests:
In case-control association studies, population subdivision or admixture can lead to spurious associations between a phenotype and unlinked candidate loci. Population stratification can occur in case-control association studies when... more
In case-control association studies, population subdivision or admixture can lead to spurious associations between a phenotype and unlinked candidate loci. Population stratification can occur in case-control association studies when allele frequencies differ between cases and controls because of ancestry. We evaluated five methods (Fst, Genomic Control, STRUCTURE, PLINK and EIGENSTRAT) using 317K SNPs (Illumina HumanHap300) in a case-control sample of 200 American subjects with different races (Caucasian, African ...
Research Interests:
Research Interests:
The aetiology of autism is still largely unknown despite analyses from family and twin studies demonstrating substantial genetic role in the aetiology of the disorder. Data from linkage studies and analyses of chromosomal abnormalities... more
The aetiology of autism is still largely unknown despite analyses from family and twin studies demonstrating substantial genetic role in the aetiology of the disorder. Data from linkage studies and analyses of chromosomal abnormalities identified 15q11-q13 as a region of particular aetiopathogenesis interest. We screened a set of markers spanning two known imprinted, maternally expressed genes, UBE3A and ATP10A, harboured in this candidate region. We replicated evidence of linkage disequilibrium (LD) at marker D15S122, located at the 5' end of UBE3A and originally reported by Nurmi et al. (2001). The potential role of UBE3A in our family-based association study is further supported by the association of two haplotypes that include one of the alleles of D15S122 and by the transmission disequilibrium test (TDT) evidence of the same allele in a parent of origin effect analysis. In a secondary analysis, we provided the first evidence of a significant association between first word d...
Research Interests:
Research Interests:
Research Interests:
Research Interests: Genetics, Schizophrenia, Cognition, Working Memory, Membrane Proteins, and 19 morePrefrontal Cortex, Brain, Humans, Genetic Testing, Female, Functional Imaging, Male, Young Adult, Genetic determinism, Genome, Gene, Phenotype, Genes, Aged, Middle Aged, Gen, Genotype, Adult, and Nuclear Magnetic Resonance Imaging
Research Interests: Engineering, Physics, Chemistry, Magnetic Resonance Imaging, Biology, and 18 moreLife Sciences, MRI, Apoptosis, Medicine, Multidisciplinary, Hippocampus, Humans, Female, Male, Axon Guidance, Volume, PLoS one, Ubiquitin Proteasome System, Adult, Quantitative Trait Loci, Alzheimer Disease, Complex, and Case Control Studies
Research Interests: Genetics, Brain Imaging, Schizophrenia, MicroRNA, Working Memory, and 14 moreBrain development, Humans, Mice, Animals, Neuroimage, Statistical Power, Diagnostic Imaging, Gene Regulatory Networks, Experimental Study, Glypicans, Mouse Model, Functional integration, Quantitative Trait Loci, and Gene Set Enrichment Analysis
Research Interests: Polymorphism, Phylogeny, Prospective studies, Mitochondrial DNA, Humans, and 15 moreFemale, Male, Genetic Association Studies, Follow-up studies, Clinical Sciences, Aged, Longitudinal Studies, Oxidative Damage, Genetic variation, Neurobiology of Aging, Alzheimer Disease, Genetic Susceptibility, Neurosciences, Case Control Studies, and Cohort Studies
Research Interests:
Research Interests: Genetics, Psychopharmacology, Schizophrenia, Cognition, Magnetic Resonance Imaging, and 38 moreImaging, Working Memory, Risk assessment, Behavioral Medicine, Adolescent, Genome Wide Association Studies (GWAS), Prefrontal Cortex, Brain development, Molecular Psychiatry, Screening, Biological Sciences, Identification, Humans, Genetic Testing, Female, Functional Imaging, Male, Young Adult, Genetic determinism, Gene, Risk factors, Genes, Aged, Middle Aged, Gen, Genotype, Oxygen, Adult, Single Nucleotide Polymorphism, GWAS, Phenotypic variation, Quantitative Trait Loci, Risk Factors, Risk Assessment, Permutation Test, Case Control Study, Nuclear Magnetic Resonance Imaging, and Genotypes
Research Interests:
We investigated the genome-wide distribution of CNVs in the... more
We investigated the genome-wide distribution of CNVs in the Alzheimer's disease (AD) Neuroimaging Initiative (ADNI) sample (146 with AD, 313 with Mild Cognitive Impairment (MCI), and 181 controls). Comparison of single CNVs between cases (MCI and AD) and controls shows overrepresentation of large heterozygous deletions in cases (p-value<0.0001). The analysis of CNV-Regions identifies 44 copy number variable loci of heterozygous deletions, with more CNV-Regions among affected than controls (p=0.005). Seven of the 44 CNV-Regions are nominally significant for association with cognitive impairment. We validated and confirmed our main findings with genome re-sequencing of selected patients and controls. The functional pathway analysis of the genes putatively affected by deletions of CNV-Regions reveals enrichment of genes implicated in axonal guidance, cell-cell adhesion, neuronal morphogenesis and differentiation. Our findings support the role of CNVs in AD, and suggest an association between large deletions and the development of cognitive impairment.
Research Interests:
Research Interests: Genetics, Algorithms, Genomics, Cognition, Working Memory, and 18 moreCognitive Neuropsychiatry, Cell Migration, Genome Wide Association Studies (GWAS), Multiple testing, Humans, Effect size, Stress response, Control Design, Cognitive Process, Statistical Power, Phenotype, Single Nucleotide Polymorphism, Cognitive Function, General Linear Model, Quantitative Trait Loci, Genetic variation, Allele Frequency, and Cognition disorders
Research Interests: Genetics, Research Design, Schizophrenia, Biological Sciences, Joint Action, and 16 moreSoftware, Genetics of complex disease, Humans, African American, Mathematical Sciences, Statistical Significance, BMC Bioinformatics, Spectrum, Pathway Analysis, Single Nucleotide Polymorphism, Kolmogorov-Smirnov test, Linkage Disequilibrium, Genetic variation, False discovery rate, Statistical Approach, and Software Package
Research Interests: Genetics, Relational Database, Polymorphism, Database Management Systems, Biological Sciences, and 13 moreAssociation study, Mathematical Sciences, Genetic Map, BMC Bioinformatics, Computer User Interface Design, Information Storage and Retrieval, Information Management System, Data Flow Diagram, Linkage Disequilibrium, High Density Concrete, Genetic Analysis, Data management system, and Information System
Research Interests: Genetics, Adolescent, Association study, Longevity, Humans, and 19 moreChild, Biogerontology, United States, Female, Male, Infant, Sample Size, Phenotype, Clinical Sciences, Newborn Infant, Genotype, Replication, Adult, Reproducibility of Results, European Continental Ancestry Group, Negative Selection Algorithm, Genetic Association, Case Control Study, and Case Control Studies
Research Interests:
Research Interests:
Differences in genetic background within two or more populations are an important cause of disturbance in case–control association studies. In fact, when mixing together populations of different ethnic groups, different allele frequencies... more
Differences in genetic background within two or more populations are an important cause of disturbance in case–control association studies. In fact, when mixing together populations of different ethnic groups, different allele frequencies between case and control samples could be due to the ancestry rather than a real association with the disease under study. This can easily lead to a large amount of false positive and negative results in association study analysis. Moreover, the growing need to put together several data sets coming from ...