Research Topics
Genomes and Genes
| Shaun PurcellSummaryAffiliation: Harvard University Country: USA Publications
| Collaborators
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Detail Information
Publications
Family-based genetic risk prediction of multifactorial diseaseDouglas M Ruderfer
Psychiatric and Neurodevelopmental Genetics Unit, Center for Human Genetic Research, Mass General Hospital, Boston, MA, USA
Genome Med 2:2. 2010..This approach can lead to better-calibrated estimates of disease risk, although the overall benefit for prediction is typically only very modest...- Protocol for investigating genetic determinants of posttraumatic stress disorder in women from the Nurses' Health Study IIKarestan C Koenen
Department of Society, Human Development and Health, Harvard School of Public Health, Boston, MA 02115, USA
BMC Psychiatry 9:29. 2009..Although twin studies suggest genetic influences account for substantial variance in PTSD risk, little progress has been made in identifying variants in specific genes that influence liability to this common, debilitating disorder... 
WHAP: haplotype-based association analysisShaun Purcell
Center for Human Genetic Research, MGH, Boston, MA, USA
Bioinformatics 23:255-6. 2007..We illustrate using these tests to dissect a multi-locus association. AVAILABILITY: WHAP is a C/C++ program, freely available from the author's website: http://pngu.mgh.harvard.edu/purcell/whap/..- PLINK: a tool set for whole-genome association and population-based linkage analysesShaun Purcell
Center for Human Genetic Research, Massachusetts General Hospital, Boston, MA 02114, USA
Am J Hum Genet 81:559-75. 2007..Analysis of the patterns of segmental sharing has the potential to map disease loci that contain multiple rare variants in a population-based linkage analysis... - Association between treatment-emergent suicidal ideation with citalopram and polymorphisms near cyclic adenosine monophosphate response element binding protein in the STAR*D studyRoy H Perlis
Massachusetts General Hospital, Boston, MA 02114, USA
Arch Gen Psychiatry 64:689-97. 2007.... 
Cross-disorder genomewide analysis of schizophrenia, bipolar disorder, and depressionJie Huang
Psychiatric and Neurodevelopmental Genetics Unit, Center for Human Genetic Research, and Psychiatric Genetics Program in Mood and Anxiety Disorders, Department of Psychiatry, Massachusetts General Hospital, Boston, MA 02114, USA
Am J Psychiatry 167:1254-63. 2010..The purpose of this study was to apply genomewide association study (GWAS) analysis to address the specificity of genetic effects on these disorders...- Pharmacogenetic analysis of genes implicated in rodent models of antidepressant response: association of TREK1 and treatment resistance in the STAR(*)D studyRoy H Perlis
Depression Clinical and Research Program, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02114, USA
Neuropsychopharmacology 33:2810-9. 2008..More broadly, they indicate the utility of animal models in identifying genes for pharmacogenetic studies of antidepressant response... - Multivariate genomewide linkage scan of neurocognitive traits and ADHD symptoms: suggestive linkage to 3q13Alysa E Doyle
Pediatric Psychopharmacology Unit, Massachusetts General Hospital, Boston, Massachusetts, USA
Am J Med Genet B Neuropsychiatr Genet 147:1399-411. 2008..Overall, these data support the utility of neurocognitive traits as ADHD endophenotypes, but also highlight their limited genetic overlap with the disorder... - Family-based association study of lithium-related and other candidate genes in bipolar disorderRoy H Perlis
Psychiatric and Neurodevelopmental Genetics Unit, Center for Human Genetic Research, Massachusetts General Hospital, 185 Cambridge St, Boston, MA 02114, USA
Arch Gen Psychiatry 65:53-61. 2008..Recent developments suggest that a broader pool of genes may be associated with this disorder... - Linkage disequilibrium mapping of the chromosome 6q21-22.31 bipolar I disorder susceptibility locusJinbo Fan
Stanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, Boston, Massachusetts, USA
Am J Med Genet B Neuropsychiatr Genet 153:29-37. 2010..Further studies in larger samples are warranted to clarify which, if any, genes in the 6q region confer risk for bipolar disorder... - A genomewide association study of response to lithium for prevention of recurrence in bipolar disorderRoy H Perlis
Department of Psychiatry, Massachusetts General Hospital, Boston, MA, USA
Am J Psychiatry 166:718-25. 2009.... - Association of reading disability on chromosome 6p22 in the Afrikaner populationJill V Platko
Psychiatric and Neurodevelopmental Genetics Unit, Center for Human Genetic Research, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts 02114, USA
Am J Med Genet B Neuropsychiatr Genet 147:1278-87. 2008..Of particular interest were markers on chromosomes 1 and 15. These two regions have been implicated in studies of populations that formed the founding population in the Afrikaner population... - Investigation of parent-of-origin effects in ADHD candidate genesJang Woo Kim
Psychiatric and Neurodevelopmental Genetics Unit, Center for Human Genetic Research, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts 02114, USA
Am J Med Genet B Neuropsychiatr Genet 144:776-80. 2007..Thus, we conclude that a substantial parent-of-origin effect is unlikely for these leading ADHD candidate genes... - Influence of RGS2 on anxiety-related temperament, personality, and brain functionJordan W Smoller
Center for Human Genetic Research, Massachusetts General Hospital, Harvard Medical School, Boston, MA 02114, USA
Arch Gen Psychiatry 65:298-308. 2008..The gene encoding regulator of G protein signaling 2 (Rgs2) is a quantitative trait gene that influences mouse anxiety behavior, making its human ortholog (RGS2) a compelling candidate gene for human anxiety phenotypes... - Genome-wide association study of suicide attempts in mood disorder patientsRoy H Perlis
Department of Psychiatry, Massachusetts General Hospital, Boston, 02114, USA
Am J Psychiatry 167:1499-507. 2010..The authors therefore examined the association between common genomewide variation and lifetime suicide attempts... - A genome-wide linkage and association scan reveals novel loci for autismLauren A Weiss
Center for Human Genetic Research, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts 02114, USA
Nature 461:802-8. 2009..The linkage regions reported here provide targets for rare variation screening whereas the discovery of a single novel association demonstrates the action of common variants... - Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variantsSekar Kathiresan
Cardiovascular Research Center and Cardiology Division, Massachusetts General Hospital, Boston, Massachusetts 02114, USA
Nat Genet 41:334-41. 2009..SNPs at nine loci were reproducibly associated with myocardial infarction, but tests of common and rare CNVs failed to identify additional associations with myocardial infarction risk... - Prevalence of incompletely penetrant Huntington's disease alleles among individuals with major depressive disorderRoy H Perlis
Center for Human Genetic Research and the Department of Psychiatry, Massachusetts General Hospital, Boston, MA 02114, USA
Am J Psychiatry 167:574-9. 2010..However, the prevalence of HTT CAG repeat expansions among individuals diagnosed with major depressive disorder has not been established... - Identification of EFHC2 as a quantitative trait locus for fear recognition in Turner syndromeLauren A Weiss
Psychiatric and Neurodevelopmental Genetics Unit, Center for Human Genetic Research, Massachusetts General Hospital, Harvard Medical School, Boston, MA 02114, USA
Hum Mol Genet 16:107-13. 2007..EFHC2 shows genealogy and extended LD consistent with directional selection. This novel QTL may influence social cognition in the general population and in autism... - 50bp deletion in the promoter for superoxide dismutase 1 (SOD1) reduces SOD1 expression in vitro and may correlate with increased age of onset of sporadic amyotrophic lateral sclerosisWendy J Broom
Day Neuromuscular Research Laboratory, Massachusetts General Hospital, Charlestown, Massachusetts 02129, USA
Amyotroph Lateral Scler 9:229-37. 2008..Our findings suggest the hypothesis that this deletion reduces expression of the SOD1 gene and that levels of the SOD1 protein may modify the phenotype of SALS within selected populations... - Properties of structured association approaches to detecting population stratificationShaun Purcell
Whitehead Institute, Nine Cambridge Center, Cambridge, MA 02129, USA
Hum Hered 58:93-107. 2004..To examine the properties of the structured association approach for the detection and correction of population stratification... - Ascertainment through family history of disease often decreases the power of family-based association studiesManuel A R Ferreira
Center for Human Genetic Research, Massachusetts General Hospital, Harvard Medical School, 185 Cambridge St, Boston, MA 02114, USA
Behav Genet 37:631-6. 2007..Our analytic approach to estimate the asymptotic power of the TDT is implemented online at http://pngu.mgh.harvard.edu/ ~purcell/gpc/... - Common variation in three genes, including a noncoding variant in CFH, strongly influences risk of age-related macular degenerationJulian Maller
Center for Human Genetic Research, Massachusetts General Hospital, 185 Cambridge St, Boston, Massachusetts 02114, USA
Nat Genet 38:1055-9. 2006..Genotypes at these five common SNPs define a broad spectrum of interindividual disease risk and explain about half of the classical sibling risk of AMD in our study population... - Contribution of methylenetetrahydrofolate reductase (MTHFR) polymorphisms to negative symptoms in schizophreniaJoshua L Roffman
Schizophrenia Research Program, Department of Psychiatry, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts, USA
Biol Psychiatry 63:42-8. 2008..We examined whether the methylenetetrahydrofolate reductase (MTHFR) C677T and A1298C functional polymorphisms contribute to negative symptoms... - Two quantitative trait loci for prepulse inhibition of startle identified on mouse chromosome 16 using chromosome substitution strainsTracey L Petryshen
Psychiatric and Neurodevelopmental Genetics Unit, Center for Human Genetic Research, Broad Institute of Harvard, 185 Cambridge Street, Cambridge, MA 02139, USA
Genetics 171:1895-904. 2005..The regions contain a limited number of strong biological candidate genes that are potential risk genes for psychiatric disorders in which patients have PPI impairments... - Parental phenotypes in family-based association analysisShaun Purcell
Whitehead Institute for Biomedical Research, Cambridge, MA, USA
Am J Hum Genet 76:249-59. 2005..This methodology enables the extraction of more information from existing family-based collections that are currently being genotyped and analyzed by use of standard approaches... - Clinical and genetic dissection of anger expression and CREB1 polymorphisms in major depressive disorderRoy H Perlis
Depression Clinical and Research Program, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts, USA
Biol Psychiatry 62:536-40. 2007..Therefore, we examined the association between CREB1 polymorphisms and anger expression in MDD... - Replication of putative candidate-gene associations with rheumatoid arthritis in >4,000 samples from North America and Sweden: association of susceptibility with PTPN22, CTLA4, and PADI4Robert M Plenge
Broad Institute of MIT and Harvard, Cambridge, MA, USA
Am J Hum Genet 77:1044-60. 2005.... - Environmental mediation and the twin designShaun Purcell
Psychiatry and Neurodevelopmental Genetics Unit, Center for Human Genetics Research, Massachusetts General Hospital, Boston, MA, USA
Behav Genet 35:491-8. 2005..Based on a simple simulation study, recommendations are given as to which methods should be applied and which should be avoided... - Optimal selection strategies for QTL mapping using pooled DNA samplesAnsar Jawaid
Department of Psychological Medicine, Institute of Psychiatry, King s College London, London SE5 8AF, UK
Eur J Hum Genet 10:125-32. 2002..Our results emphasize the importance of minimising experimental errors and suggest a pooling fraction of around 20%... - The serotonin transporter gene as a QTL for ADHDSarah Curran
MRC Social, Genetic, and Developmental Psychiatry Centre, Institute of Psychiatry, De Crespigny Park, London, United Kingdom
Am J Med Genet B Neuropsychiatr Genet 134:42-7. 2005..0054 for the global test and an empirical P value = 0.00081 for the largest local test. Thus, we show here that SLC6A4, which has a major influence on brain serotonin availability, may be a QTL for ADHD... - Population differences in the International Multi-Centre ADHD Gene ProjectBenjamin M Neale
MRC Social Genetic and Developmental Psychiatry Centre, Institute of Psychiatry, King s College London, UK
Genet Epidemiol 32:98-107. 2008..Any case-control sample employing an Israeli sample with Northern Europeans must consider stratification. A Northern European tag set, however, appears to be appropriate for capturing the variation across populations... - Evaluation of common variants in the six known maturity-onset diabetes of the young (MODY) genes for association with type 2 diabetesWendy Winckler
Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, MA 02142, USA
Diabetes 56:685-93. 2007..We conclude that although rare variants in these six genes explain most cases of MODY, common variants in these same genes contribute very modestly, if at all, to the common form of type 2 diabetes... - Genome-wide linkage analysis of a composite index of neuroticism and mood-related scales in extreme selected sibshipsMatthew W Nash
MRC Social, Genetic and Developmental Psychiatry Research Centre, Section of Epidemiology, Institute of Psychiatry, King's College, London, UK
Hum Mol Genet 13:2173-82. 2004..2) around 64 cM (43-70 cM) near marker D1S2892 and another on chromosome 6p (LOD 2.7) around 47 cM (34-63 cM) near marker D6S1610. Further exploratory sex-specific analyses suggested that these QTLs might have sex-limited effects... - Epistasis in quantitative trait locus linkage analysis: interaction or main effect?Shaun Purcell
Social, Genetic, and Developmental Psychiatry Research Centre, Institute of Psychiatry, P O 080, King s College London, Denmark Hill, London SE5 8AF, United Kingdom
Behav Genet 34:143-52. 2004..Second, because the nonepistatic variance component estimates in submodels can partially absorb epistatic variance when it is not explicitly modeled, power to formally detect epistasis is low... - Variance components models for gene-environment interaction in quantitative trait locus linkage analysisShaun Purcell
Social, Genetic and Developmental Psychiatry Research Centre, Institute of Psychiatry, King s College, London, UK
Twin Res 5:572-6. 2002..As well as elucidating environmental pathways, consideration of G x E in quantitative and molecular studies will potentially direct and enhance gene-mapping efforts... - Direct or indirect association in a complex disease: the role of SLC22A4 and SLC22A5 functional variants in Crohn diseaseSheila A Fisher
Department of Medical and Molecular Genetics, King s College London School of Medicine, Guy s Hospital, London, United Kingdom
Hum Mutat 27:778-85. 2006.... - Integrated genotype calling and association analysis of SNPs, common copy number polymorphisms and rare CNVsJoshua M Korn
Broad Institute of Harvard and Massachusetts Institute of Technology, Cambridge, Massachusetts 02142, USA
Nat Genet 40:1253-60. 2008..The Birdsuite software is applied here to data from the Affymetrix SNP 6.0 array. Additionally, we describe a method, implemented in PLINK, to utilize these combined SNP and CNV genotypes for association testing with a phenotype... - Cannabis receptor haplotype associated with fewer cannabis dependence symptoms in adolescentsChristian J Hopfer
Department of Psychiatry, University of Colorado Health Sciences Center, Denver, Colorado 80262, USA
Am J Med Genet B Neuropsychiatr Genet 141:895-901. 2006..Our findings provide evidence suggesting that a common CNR1 haplotype is associated with developing fewer cannabis dependence symptoms among adolescents who have experimented with cannabis... - A second generation human haplotype map of over 3.1 million SNPsKelly A Frazer
The Scripps Research Institute, 10550 North Torrey Pines Road MEM275, La Jolla, California 92037, USA
Nature 449:851-61. 2007..Finally, we demonstrate increased differentiation at non-synonymous, compared to synonymous, SNPs, resulting from systematic differences in the strength or efficacy of natural selection between populations... - Genome-wide detection and characterization of positive selection in human populationsPardis C Sabeti
Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02139, USA
Nature 449:913-8. 2007.... - Two independent alleles at 6q23 associated with risk of rheumatoid arthritisRobert M Plenge
Program in Medical and Population Genetics, Broad Institute of Harvard and Massachusetts Institute of Technology, Cambridge, Massachusetts 02142, USA
Nat Genet 39:1477-82. 2007..We show that these two SNP associations are statistically independent, are each reproducible in the comparison of our data and WTCCC data, and define risk and protective haplotypes for rheumatoid arthritis at 6q23... - Powerful regression-based quantitative-trait linkage analysis of general pedigreesPak C Sham
SGDP Research Centre, Institute of Psychiatry, King s College, Denmark Hill, London SE5 8AF, United Kingdom
Am J Hum Genet 71:238-53. 2002..In large sibships, the new method is slightly more powerful than variance-components models. The proposed method provides a practical and powerful tool for the linkage analysis of quantitative traits... - Genome-wide association analysis identifies loci for type 2 diabetes and triglyceride levelsRicha Saxena
Broad Institute of Harvard and Massachusetts Institute of Technology MIT, Cambridge, MA 02142, USA
Science 316:1331-6. 2007..The discovery of associated variants in unsuspected genes and outside coding regions illustrates the ability of genome-wide association studies to provide potentially important clues to the pathogenesis of common diseases... - Changing environmental influences on substance use across developmentDanielle M Dick
Washington University, Department of Psychiatry, St Louis, MO 63110, USA
Twin Res Hum Genet 10:315-26. 2007..Furthermore, they illustrate the importance of using a developmental perspective to understand how specific influences may vary across different ages, and across different phenotypes... - Pretrauma cognitive ability and risk for posttraumatic stress disorder: a twin studyWilliam S Kremen
Department of Psychiatry and Center for Behavioral Genomics, University of California San Diego, 9500 Gilman Drive, La Jolla, CA 92093, USA
Arch Gen Psychiatry 64:361-8. 2007..Cognitive deficits are associated with posttraumatic stress disorder (PTSD), but whether such deficits reflect sequelae or risk factors is not fully resolved... - The positives, protocols, and perils of genome-wide associationBenjamin M Neale
Social, Genetic, and Developmental Psychiatry Centre, Institute of Psychiatry, King s College London, De Crespigny Park, London, UK
Am J Med Genet B Neuropsychiatr Genet 147:1288-94. 2008..We conclude with a look toward future developments such as the analysis of copy number variation and integration of expression and epigenetic phenomenon into genome-wide association... - Variance components models for gene-environment interaction in twin analysisShaun Purcell
Social, Genetic and Developmental Psychiatry Research Centre, Institute of Psychiatry, King s College, London, UK
Twin Res 5:554-71. 2002..As well as elucidating environmental pathways, consideration of gene-environment interaction in quantitative and molecular studies will potentially direct and enhance gene-mapping efforts... - Family dysfunction interacts with genes in the causation of antisocial symptomsTanya Maria May Button
Social, Genetic and Developmental Psychiatry Centre, Institute of Psychiatry, King s College, London, UK
Behav Genet 35:115-20. 2005..It was concluded that a risk genotype conferring susceptibility to family dysfunction is responsible for most of the variance in antisocial symptoms in childhood and adolescence...