Nicholas J Schork

Summary

Affiliation: University of California
Country: USA

Publications

  1. ncbi request reprint Catecholamine release-inhibitory peptide catestatin (chromogranin A(352-372)): naturally occurring amino acid variant Gly364Ser causes profound changes in human autonomic activity and alters risk for hypertension
    Fangwen Rao
    Department of Medicine, University of California at San Diego, USA
    Circulation 115:2271-81. 2007
  2. ncbi request reprint Suggestive linkage of a chromosomal locus on 18p11 to cyclothymic temperament in bipolar disorder families
    Lynn M Evans
    Department of Psychiatry, Columbia University, New York, New York, USA
    Am J Med Genet B Neuropsychiatr Genet 147:326-32. 2008
  3. pmc Accommodating linkage disequilibrium in genetic-association analyses via ridge regression
    Nathalie Malo
    Department of Experimental Medicine, The Scripps Research Institute, La Jolla, CA 92037, USA
    Am J Hum Genet 82:375-85. 2008
  4. pmc G-protein-coupled receptor kinase 4 polymorphisms and blood pressure response to metoprolol among African Americans: sex-specificity and interactions
    Vibha Bhatnagar
    Deparment of Family and Preventive Medicine, University of California San Diego, La Jolla, California, USA
    Am J Hypertens 22:332-8. 2009
  5. pmc Coexpression network analysis of neural tissue reveals perturbations in developmental processes in schizophrenia
    Ali Torkamani
    Scripps Translational Science Institute, La Jolla, California 92037, USA
    Genome Res 20:403-12. 2010
  6. pmc A comprehensive literature review of haplotyping software and methods for use with unrelated individuals
    Rany M Salem
    Polymorphism Research Laboratory, Department of Psychiatry, University of California, San Diego, CA, USA
    Hum Genomics 2:39-66. 2005
  7. pmc Statistical genetics concepts and approaches in schizophrenia and related neuropsychiatric research
    Nicholas J Schork
    Department of Psychiatry, University of California, San Diego, 9500 Gilman Drive, La Jolla, CA 92093 0603, USA
    Schizophr Bull 33:95-104. 2007
  8. pmc Power calculations for genetic association studies using estimated probability distributions
    Nicholas J Schork
    Department of Psychiatry, University of California at San Diego, 2062 Basic Science Building, 9500 Gilman Drive, La Jolla, CA 92093, USA
    Am J Hum Genet 70:1480-9. 2002
  9. pmc Inherent bias toward the null hypothesis in conventional multipoint nonparametric linkage analysis
    Nicholas J Schork
    Polymorphism Research Laboratory, Department of Psychiatry, University of California, San Diego, CA 92093 0603, USA
    Am J Hum Genet 74:306-16. 2004
  10. pmc Adrenergic polymorphism and the human stress response
    Fangwen Rao
    Department of Medicine, University of California at San Diego, La Jolla, California 92093 0838, USA
    Ann N Y Acad Sci 1148:282-96. 2008

Detail Information

Publications105 found, 100 shown here

  1. ncbi request reprint Catecholamine release-inhibitory peptide catestatin (chromogranin A(352-372)): naturally occurring amino acid variant Gly364Ser causes profound changes in human autonomic activity and alters risk for hypertension
    Fangwen Rao
    Department of Medicine, University of California at San Diego, USA
    Circulation 115:2271-81. 2007
    ..We identified a natural nonsynonymous variant of catestatin, Gly364Ser, that alters human autonomic function and blood pressure...
  2. ncbi request reprint Suggestive linkage of a chromosomal locus on 18p11 to cyclothymic temperament in bipolar disorder families
    Lynn M Evans
    Department of Psychiatry, Columbia University, New York, New York, USA
    Am J Med Genet B Neuropsychiatr Genet 147:326-32. 2008
    ..The temperament-based cyclothymic trait yielded a higher peak LOD score and a lower P-value than analyses using traditional, categorical phenotypes in a separate analysis including these same families...
  3. pmc Accommodating linkage disequilibrium in genetic-association analyses via ridge regression
    Nathalie Malo
    Department of Experimental Medicine, The Scripps Research Institute, La Jolla, CA 92037, USA
    Am J Hum Genet 82:375-85. 2008
    ..We showcase the method by using both simulated and real data. Our results suggest that ridge regression and related techniques have the potential to distinguish causative from noncausative variations in association studies...
  4. pmc G-protein-coupled receptor kinase 4 polymorphisms and blood pressure response to metoprolol among African Americans: sex-specificity and interactions
    Vibha Bhatnagar
    Deparment of Family and Preventive Medicine, University of California San Diego, La Jolla, California, USA
    Am J Hypertens 22:332-8. 2009
    ..This study explores the association between G-protein-coupled receptor kinase type 4 (GRK4) variants and blood pressure response to metoprolol among African Americans with early hypertensive nephrosclerosis...
  5. pmc Coexpression network analysis of neural tissue reveals perturbations in developmental processes in schizophrenia
    Ali Torkamani
    Scripps Translational Science Institute, La Jolla, California 92037, USA
    Genome Res 20:403-12. 2010
    ..These findings provide a novel mechanism for the "developmental" hypothesis of schizophrenia on a molecular level...
  6. pmc A comprehensive literature review of haplotyping software and methods for use with unrelated individuals
    Rany M Salem
    Polymorphism Research Laboratory, Department of Psychiatry, University of California, San Diego, CA, USA
    Hum Genomics 2:39-66. 2005
    ..It is concluded that the selection of an appropriate haplotyping program for analysis purposes should be guided by what is known about the accuracy of estimation, as well as by the limitations and assumptions built into a program...
  7. pmc Statistical genetics concepts and approaches in schizophrenia and related neuropsychiatric research
    Nicholas J Schork
    Department of Psychiatry, University of California, San Diego, 9500 Gilman Drive, La Jolla, CA 92093 0603, USA
    Schizophr Bull 33:95-104. 2007
    ..We also provide a discussion of the most pressing contemporary problems that demand further research if progress is to be made in the identification of genes and genetic variations that predispose to complex neuropsychiatric diseases...
  8. pmc Power calculations for genetic association studies using estimated probability distributions
    Nicholas J Schork
    Department of Psychiatry, University of California at San Diego, 2062 Basic Science Building, 9500 Gilman Drive, La Jolla, CA 92093, USA
    Am J Hum Genet 70:1480-9. 2002
    ....
  9. pmc Inherent bias toward the null hypothesis in conventional multipoint nonparametric linkage analysis
    Nicholas J Schork
    Polymorphism Research Laboratory, Department of Psychiatry, University of California, San Diego, CA 92093 0603, USA
    Am J Hum Genet 74:306-16. 2004
    ..We expose many of the issues concerning allele sharing with data from a large affected-sibling-pair study investigating the genetic basis of autism...
  10. pmc Adrenergic polymorphism and the human stress response
    Fangwen Rao
    Department of Medicine, University of California at San Diego, La Jolla, California 92093 0838, USA
    Ann N Y Acad Sci 1148:282-96. 2008
    ..The results suggest novel pathophysiological links between a key adrenergic locus, catecholamine metabolism, and blood pressure, and suggest new strategies to approach the mechanism, diagnosis, and treatment of systemic hypertension...
  11. pmc Natural variation within the neuronal nicotinic acetylcholine receptor cluster on human chromosome 15q24: influence on heritable autonomic traits in twin pairs
    Brinda K Rana
    Departments of Psychiatry, University of California at San Diego, La Jolla, California 92093 0657, USA
    J Pharmacol Exp Ther 331:419-28. 2009
    ..These cellular events suggest a homeostatic mechanism underlying the pleiotropic actions of CHRNA3 genetic variation on autonomic function observed in twins...
  12. pmc Naturally occurring human genetic variation in the 3'-untranslated region of the secretory protein chromogranin A is associated with autonomic blood pressure regulation and hypertension in a sex-dependent fashion
    Yuqing Chen
    Department of Medicine, Center for Human Genetics and Genomics, University of California at San Diego, San Diego, California 92093, USA
    J Am Coll Cardiol 52:1468-81. 2008
    ..We aimed to determine whether the common variation at the chromogranin A (CHGA) locus increases susceptibility to hypertension...
  13. pmc Chromogranin A polymorphisms are associated with hypertensive renal disease
    Rany M Salem
    Department of Medicine and Center for Molecular Genetics, University of California at San Diego and Veterans Administration San Diego Healthcare System 0838, 9500 Gilman Drive, La Jolla, CA 92093 0838, USA
    J Am Soc Nephrol 19:600-14. 2008
    ..In summary, common variants in chromogranin A associate with the risk of hypertensive ESRD in blacks...
  14. pmc Discovery of common human genetic variants of GTP cyclohydrolase 1 (GCH1) governing nitric oxide, autonomic activity, and cardiovascular risk
    Lian Zhang
    Department of Medicine, UCSD School of Medicine, San Diego, California 92093 0838, USA
    J Clin Invest 117:2658-71. 2007
    ....
  15. ncbi request reprint Tyrosine hydroxylase, the rate-limiting enzyme in catecholamine biosynthesis: discovery of common human genetic variants governing transcription, autonomic activity, and blood pressure in vivo
    Fangwen Rao
    Department of Medicine, University of California at San Diego, San Diego, Calif, USA
    Circulation 116:993-1006. 2007
    ....
  16. ncbi request reprint Renal albumin excretion: twin studies identify influences of heredity, environment, and adrenergic pathway polymorphism
    Fangwen Rao
    Department of Medicine, Center for Human Genetics and Genomics, University of California at San Diego, La Jolla, CA 92093 0838, USA
    Hypertension 49:1015-31. 2007
    ..Such functional links between adrenergic activity and glomerular injury suggest novel approaches to its prediction, prevention, diagnosis, and treatment...
  17. ncbi request reprint Initial heritability analyses of endophenotypic measures for schizophrenia: the consortium on the genetics of schizophrenia
    Tiffany A Greenwood
    Department of Psychiatry, University of California San Diego, La Jolla, USA
    Arch Gen Psychiatry 64:1242-50. 2007
    ..Exploration of the genetic architecture of specific endophenotypes may be a powerful strategy for understanding the genetic basis of schizophrenia...
  18. pmc MicroRNA-22 and promoter motif polymorphisms at the Chga locus in genetic hypertension: functional and therapeutic implications for gene expression and the pathogenesis of hypertension
    Ryan S Friese
    Department of Bioengineering, VA San Diego Healthcare System, University of California at San Diego, CA 92093, USA
    Hum Mol Genet 22:3624-40. 2013
    ..Accordingly, we demonstrated that in vivo administration of miR-22 antagomir to SHR causes substantial (∼18 mmHg) reductions in blood pressure, opening a novel therapeutic avenue for hypertension. ..
  19. ncbi request reprint Pleiotropic effects of novel trans-acting loci influencing human sympathochromaffin secretion
    Tiffany A Greenwood
    Department of Medicine, University of California San Diego, La Jolla, USA
    Physiol Genomics 25:470-9. 2006
    ..The results suggest a new approach to heritable autonomic control of circulation and the genetic basis of cardiovascular diseases such as systemic hypertension...
  20. pmc Genome-wide linkage analyses of 12 endophenotypes for schizophrenia from the Consortium on the Genetics of Schizophrenia
    Tiffany A Greenwood
    Department of Psychiatry, University of California San Diego, La Jolla, Calif, USA
    Am J Psychiatry 170:521-32. 2013
    ..The authors previously demonstrated the heritability of these endophenotypes; in the present study, genetic linkage was evaluated...
  21. pmc Multiple ADH genes modulate risk for drug dependence in both African- and European-Americans
    Xingguang Luo
    Department of Psychiatry, Yale University School of Medicine, New Haven, CT 06516, USA
    Hum Mol Genet 16:380-90. 2007
    ..These findings, obtained using a series of powerful and reliable analytic methods, may also help to explain the high rate of co-morbidity between AD and DD...
  22. ncbi request reprint Heredity of endothelin secretion: human twin studies reveal the influence of polymorphism at the chromogranin A locus, a novel determinant of endothelial function
    Elizabeth O Lillie
    Department of Medicine, University of California at San Diego, USA
    Circulation 115:2282-91. 2007
    ..CHGA, a candidate gene for intermediate phenotypes that contribute to hypertension, shows a pattern of single nucleotide polymorphism variations that alter the expression and function of this gene both in vivo and in vitro...
  23. ncbi request reprint Interactive effects of common beta2-adrenoceptor haplotypes and age on susceptibility to hypertension and receptor function
    Xuping Bao
    Department of Medicine, University of California, San Diego, CA, USA
    Hypertension 46:301-7. 2005
    ..05) and decreased heart rate (7%; P<0.001). Our study suggests that age is an important modifier for the effects of ADRB2 polymorphisms on ADRB2 function and the development of hypertension...
  24. pmc Genetic variation within adrenergic pathways determines in vivo effects of presynaptic stimulation in humans
    Maple M Fung
    Department of Medicine, Division of Nephrology Hypertension, University of California at San Diego, 9500 Gilman Dr, La Jolla, CA 92093 0838, USA
    Circulation 117:517-25. 2008
    ..Catecholamines govern stress blood pressure responses. Catecholaminergic responses may be partially genetic and contribute to the complex heritability of hypertension...
  25. pmc Human dopamine beta-hydroxylase (DBH) regulatory polymorphism that influences enzymatic activity, autonomic function, and blood pressure
    Yuqing Chen
    Department of Medicine, University of California at San Diego, La Jolla, California 92093 0838, USA
    J Hypertens 28:76-86. 2010
    ..Here we systematically investigated DBH polymorphisms associated with enzymatic activity as well as autonomic and blood pressure (BP)/disease phenotypes in vivo...
  26. ncbi request reprint Population-based sample reveals gene-gender interactions in blood pressure in White Americans
    Brinda K Rana
    Department of Psychiatry, University of California at San Diego, La Jolla, CA 92093, USA
    Hypertension 49:96-106. 2007
    ..Such genetic variants may define genetically and etiologically distinct subgroups of men and women with essential hypertension and may have implications for rational treatment selection...
  27. pmc Abnormal auditory N100 amplitude: a heritable endophenotype in first-degree relatives of schizophrenia probands
    Bruce I Turetsky
    Department of Psychiatry, University of Pennsylvania, Philadelphia, Pennsylvania 19104, USA
    Biol Psychiatry 64:1051-9. 2008
    ..We report initial results from the COGS dataset of auditory N100 amplitude and gating as candidate endophenotypes...
  28. ncbi request reprint Functional allelic heterogeneity and pleiotropy of a repeat polymorphism in tyrosine hydroxylase: prediction of catecholamines and response to stress in twins
    Lian Zhang
    Department of Medicine, University of California at San Diego, 92161, USA
    Physiol Genomics 19:277-91. 2004
    ....
  29. doi request reprint Influence of genetic polymorphisms on the effect of high- and standard-dose clopidogrel after percutaneous coronary intervention: the GIFT (Genotype Information and Functional Testing) study
    Matthew J Price
    Division of Cardiovascular Diseases, Scripps Clinic, La Jolla, California 92037, USA
    J Am Coll Cardiol 59:1928-37. 2012
    ..This study sought to evaluate the influence of single nucleotide polymorphisms (SNPs) on the pharmacodynamic effect of high- or standard-dose clopidogrel after percutaneous coronary intervention (PCI)...
  30. pmc Methylenetetrahydrofolate reductase (MTHFR) polymorphism A1298C (Glu429Ala) predicts decline in renal function over time in the African-American Study of Kidney Disease and Hypertension (AASK) Trial and Veterans Affairs Hypertension Cohort (VAHC)
    Maple M Fung
    Department of Medicine, University of California, San Diego, La Jolla, CA 92093, USA
    Nephrol Dial Transplant 27:197-205. 2012
    ..Here, we evaluated the influence of MTHFR variants on progressive loss of kidney function...
  31. pmc Association of genetic variants on 15q12 with cortical thickness and cognition in schizophrenia
    Trygve E Bakken
    The Scripps Research Institute, Scripps Translational Science Institute, 3344 N Torrey Pines Court, La Jolla, CA 92037, USA
    Arch Gen Psychiatry 68:781-90. 2011
    ..Identifying genes that contribute to variation in cortical thickness provides a means to elucidate some of the biological mechanisms underlying these diseases and general cognitive abilities...
  32. pmc Inhibition of the P50 cerebral evoked response to repeated auditory stimuli: results from the Consortium on Genetics of Schizophrenia
    Ann Olincy
    Department of Psychiatry, Veterans Affairs Denver Medical Center VISN 19 MIRECC, CO 80045, USA
    Schizophr Res 119:175-82. 2010
    ....
  33. ncbi request reprint C-reactive protein, an 'intermediate phenotype' for inflammation: human twin studies reveal heritability, association with blood pressure and the metabolic syndrome, and the influence of common polymorphism at catecholaminergic/beta-adrenergic pathway loc
    Jennifer Wessel
    Department of Medicine, University of California at San Diego, California 92093 0838, USA
    J Hypertens 25:329-43. 2007
    ..C-reactive protein (CRP) both reflects and participates in inflammation, and its circulating concentration marks cardiovascular risk. Here we sought to understand the role of heredity in determining CRP secretion...
  34. ncbi request reprint Rho kinase polymorphism influences blood pressure and systemic vascular resistance in human twins: role of heredity
    Tammy M Seasholtz
    Department of Pharmacology, University of California, San Diego, CA, USA
    Hypertension 47:937-47. 2006
    ....
  35. pmc Accurate detection and genotyping of SNPs utilizing population sequencing data
    Vikas Bansal
    Scripps Translational Science Institute, The Scripps Research Institute, La Jolla, CA 92037, USA
    Genome Res 20:537-45. 2010
    ..Collectively, these results suggest that analysis of population sequencing data is a powerful approach for the accurate detection of SNPs and the assignment of genotypes to individual samples...
  36. doi request reprint Human heart rate: heritability of resting and stress values in twin pairs, and influence of genetic variation in the adrenergic pathway at a microribonucleic acid (microrna) motif in the 3'-UTR of cytochrome b561 [corrected]
    Kuixing Zhang
    Department of Medicine, University of California at San Diego, San Diego, California
    J Am Coll Cardiol 63:358-68. 2014
    ..The goal of this study was to understand the role of genetic variation in the catecholamine biosynthetic pathway for control of human heart rate (HR)...
  37. ncbi request reprint Common genetic mechanisms of blood pressure elevation in two independent rodent models of human essential hypertension
    Ryan S Friese
    Department of Bioengineering, San Diego, California 92093 0838, USA
    Am J Hypertens 18:633-52. 2005
    ....
  38. ncbi request reprint Biogenesis of the secretory granule: chromogranin A coiled-coil structure results in unusual physical properties and suggests a mechanism for granule core condensation
    Coleman A Mosley
    Bioinformatics Graduate Program, University of California at San Diego, La Jolla, CA 92093 0838, USA
    Biochemistry 46:10999-1012. 2007
    ..These results suggest new roles for secretory protein tertiary structure in hormone and transmitter storage, with implications for secretory cargo condensation (or dense core "packing" structure) within the regulated pathway...
  39. doi request reprint Evidence for a heritable unidimensional symptom factor underlying obsessionality
    Carol A Mathews
    Department of Psychiatry, University of California, San Francisco, San Francisco, California 94143 0984, USA
    Am J Med Genet B Neuropsychiatr Genet 147:676-85. 2008
    ..This component, which is heritable, accounts for the majority of the variation of the more traditionally derived symptom factors in our sample, and is composed of OCS that are not specific to any of the symptom subgroups...
  40. ncbi request reprint Genetic variation at the human alpha2B-adrenergic receptor locus: role in blood pressure variation and yohimbine response
    Jason P Etzel
    Department of Medicine, University of California at San Diego, CA, USA
    Hypertension 45:1207-13. 2005
    ..Thus, despite considerable polymorphism in alpha2-AR genes, such variation is not a major determinant of variability in yohimbine response and by inference, in susceptibility to essential hypertension...
  41. pmc Adrenergic beta-1 receptor genetic variation predicts longitudinal rate of GFR decline in hypertensive nephrosclerosis
    Maple M Fung
    Department of Medicine, University of California, San Diego, and San Diego Veterans Affairs Healthcare System, La Jolla, CA, USA
    Nephrol Dial Transplant 24:3677-86. 2009
    ..End-stage renal disease (ESRD) due to hypertension is common and displays familial aggregation in African Americans, suggesting genetic risk factors, including adrenergic activity alterations which are noted in both hypertension and ESRD...
  42. pmc Identification of EpCAM as the gene for congenital tufting enteropathy
    Mamata Sivagnanam
    Division of Gastroenterology, Hepatology, and Nutrition, Department of Pediatrics, University of California San Diego, La Jolla, California, USA
    Gastroenterology 135:429-37. 2008
    ..The pathogenesis and genetics of this disorder are not well understood. The objective of this study was to identify the gene responsible for CTE...
  43. pmc Neuropeptide Y (NPY): genetic variation in the human promoter alters glucocorticoid signaling, yielding increased NPY secretion and stress responses
    Kuixing Zhang
    Department of Medicine and Institute for Genomic Medicine, University of California at San Diego, San Diego, California, USA
    J Am Coll Cardiol 60:1678-89. 2012
    ..This study sought to understand whether genetic variation at the Neuropeptide Y (NPY) locus governs secretion and stress responses in vivo as well as NPY gene expression in sympathochromaffin cells...
  44. pmc Genotype-based risk and pharmacogenetic sampling in clinical trials
    Nicholas J Schork
    Scripps Translational Science Institute and Department of Molecular and Experimental Medicine, The Scripps Research Institute, La Jolla, California, USA
    J Biopharm Stat 20:315-33. 2010
    ..In addition, we also derive realistic bounds for samples sizes for clinical trials investigating pharmacogenetic effects that leverage genetic variations identified in recent association studies...
  45. pmc A covering method for detecting genetic associations between rare variants and common phenotypes
    Gaurav Bhatia
    Department of Computer Science and Engineering, University of California San Diego, La Jolla, California, USA
    PLoS Comput Biol 6:e1000954. 2010
    ..The data suggests that the RVs help disrupt the expression of the two genes, leading to lowered metabolism of the corresponding cannabinoids. Overall, our results point to the power of including RVs in measuring genetic associations...
  46. pmc Angiotensin-converting enzyme gene polymorphism predicts the time-course of blood pressure response to angiotensin converting enzyme inhibition in the AASK trial
    Vibha Bhatnagar
    University of California San Diego, La Jolla, USA
    J Hypertens 25:2082-92. 2007
    ..It has yet to be determined whether genotyping at the angiotensin-converting enzyme (ACE) locus is predictive of blood pressure response to an ACE inhibitor...
  47. pmc Analysis of 94 candidate genes and 12 endophenotypes for schizophrenia from the Consortium on the Genetics of Schizophrenia
    Tiffany A Greenwood
    Department of Psychiatry, University of California at San Diego, La Jolla, CA 92093 0804, USA
    Am J Psychiatry 168:930-46. 2011
    ....
  48. pmc An ancestral variant of Secretogranin II confers regulation by PHOX2 transcription factors and association with hypertension
    Gen Wen
    Department of Medicine, Moores UCSD Cancer Center, University of California, San Diego School of Medicine, 9500 Gilman Drive, La Jolla, CA 92093, USA
    Hum Mol Genet 16:1752-64. 2007
    ..These results identify a common regulatory variation in SCG2 and implicate granin gene expression in the control of human blood pressure and susceptibility to hypertension...
  49. ncbi request reprint Chip-based direct genotyping of coding variants in genome wide association studies: Utility, issues and prospects
    Caroline M Nievergelt
    Department of Psychiatry, University of California, San Diego VA Center of Excellence for Stress and Mental Health, VA San Diego Electronic address
    Gene 540:104-9. 2014
    ..We find that the use of the HE is likely to be a cost-effective way of expanding GWAS, but does have some drawbacks that deserve consideration when planning studies. ..
  50. ncbi request reprint Association between traumatic brain injury and risk of posttraumatic stress disorder in active-duty marines
    Kate A Yurgil
    Department of Psychiatry, Veterans Affairs San Diego Healthcare System, San Diego, California2Veterans Affairs Center of Excellence for Stress and Mental Health, San Diego, California
    JAMA Psychiatry 71:149-57. 2014
    ..CONCLUSIONS AND RELEVANCE Even when accounting for predeployment symptoms, prior TBI, and combat intensity, TBI during the most recent deployment is the strongest predictor of postdeployment PTSD symptoms. ..
  51. pmc DNA variation and brain region-specific expression profiles exhibit different relationships between inbred mouse strains: implications for eQTL mapping studies
    Iiris Hovatta
    The Salk Institute for Biological Studies, Laboratory of Genetics, 10010 North Torrey Pines Road, La Jolla, CA 92037, USA
    Genome Biol 8:R25. 2007
    ....
  52. ncbi request reprint Powerful designs for genetic association studies that consider twins and sibling pairs with discordant genotypes
    Jennifer Wessel
    Center for Human Genetics and Genomics, University of California San Diego, La Jolla, CA, USA
    Genet Epidemiol 31:789-96. 2007
    ....
  53. doi request reprint Comparison of genetic distance measures using human SNP genotype data
    Ondrej Libiger
    Scripps Translational Science Institute, Scripps Health, and Scripps Research Institute, La Jolla, CA, USA
    Hum Biol 81:389-406. 2009
    ..Finally, our study suggests that using the Cavalli-Sforza and Edwards distance may provide less power for studies concerning human migration history...
  54. ncbi request reprint COMT polymorphisms and anxiety-related personality traits
    Murray B Stein
    Department of Psychiatry, University of California, San Diego, La Jolla, CA 92093 0985, USA
    Neuropsychopharmacology 30:2092-102. 2005
    ..Other functional variants may exist that contribute to this relationship. Possible sex-specific effects remain to be further studied and explained...
  55. pmc Patterns of population epigenomic diversity
    Robert J Schmitz
    Plant Biology Laboratory, The Salk Institute for Biological Studies, La Jolla, California 92037, USA
    Nature 495:193-8. 2013
    ....
  56. pmc Simulation-based homozygosity mapping with the GAW14 COGA dataset on alcoholism
    Ondrej Libiger
    Polymorphism Research Laboratory, Department of Psychiatry, The University of California, San Diego, La Jolla, California 92093 0603, USA
    BMC Genet 6:S35. 2005
    ..Our assessment of sharing involved the use of a single-nucleotide polymorphism (SNP) marker map provided by Affymetrix...
  57. ncbi request reprint Comprehensive linkage and linkage heterogeneity analysis of 4344 sibling pairs affected with hypertension from the Family Blood Pressure Program
    Tiffany A Greenwood
    Polymorphism Research Laboratory, Department of Psychiatry, University of California, San Diego, La Jolla, California 92093 0603, USA
    Genet Epidemiol 31:195-210. 2007
    ..Ultimately our results suggest that evidence for linkage heterogeneity can only be detected with large sample sizes, such as the FBPP, which is consistent with theoretical sample size calculations...
  58. ncbi request reprint Heritability and clinical features of multigenerational families with obsessive-compulsive disorder and hoarding
    Carol A Mathews
    Department of Psychiatry, University of California, San Francisco, San Francisco, California 94143 0984, USA
    Am J Med Genet B Neuropsychiatr Genet 144:174-82. 2007
    ..39 for hoarding. We found reasonable power to detect regions of interest (lod = 2) for OCD in these families, but will need to expand our family collection to have adequate power to detect regions of interest for hoarding...
  59. pmc Suggestive evidence for association of the circadian genes PERIOD3 and ARNTL with bipolar disorder
    Caroline M Nievergelt
    Department of Psychiatry, University of California, San Diego, La Jolla, California 92093 0603, USA
    Am J Med Genet B Neuropsychiatr Genet 141:234-41. 2006
    ..However, the trends for ARNTL and PER3 are suggestive of their involvement in bipolar disorder and warrant further study in a larger sample...
  60. ncbi request reprint Identification of quantitative trait Loci for anxiety and locomotion phenotypes in rat recombinant inbred strains
    Lisa H Conti
    Department of Pharmacology, 0636, University of California, San Diego, La Jolla, California, USA
    Behav Genet 34:93-103. 2004
    ..For a phenotype reflecting both anxiety and locomotion, QTL were found on chromosomes 2, 7, and 8, while for a locomotion phenotype, significant QTL were found on chromosomes 3 and 18...
  61. ncbi request reprint Further evidence for association of GRK3 to bipolar disorder suggests a second disease mutation
    Thomas B Barrett
    Department of Psychiatry, University of California at San Diego, San Diego VA Healthcare System, San Diego, California 92093 0603, USA
    Psychiatr Genet 17:315-22. 2007
    ..This SNP, however, was too rare (allele frequency 0.007) to explain the evidence for linkage...
  62. pmc Deconstructing schizophrenia: an overview of the use of endophenotypes in order to understand a complex disorder
    David L Braff
    Department of Psychiatry, University of California San Diego, 9500 Gilman Drive, Mail Code 0804, La Jolla, CA 92093, USA
    Schizophr Bull 33:21-32. 2007
    ..The endophenotype strategy offers powerful and exciting opportunities to understand the genetically conferred neurobiological vulnerabilities and possible new strong inference and molecularly based treatments for schizophrenia...
  63. pmc Generalized genomic distance-based regression methodology for multilocus association analysis
    Jennifer Wessel
    Polymorphism Research Laboratory, Department of Psychiatry, Divisions of Epidemiology, Center for Human Genetics and Genomics, University of California at San Diego, La Jolla, CA 92093 0603, USA
    Am J Hum Genet 79:792-806. 2006
    ....
  64. ncbi request reprint A simulation-based analysis of chromosome segment sharing among a group of arbitrarily related individuals
    Ondrej Libiger
    1 1Scripps Genomic Medicine, Scripps Health, La Jolla, CA, USA
    Eur J Hum Genet 15:1260-8. 2007
    ..We present results that showcase possible application of assessing genomic sharing in gene mapping and apply our analysis to data available from published gene mapping studies...
  65. ncbi request reprint A polymorphism of the beta1-adrenergic receptor is associated with low extraversion
    Murray B Stein
    Department of Psychiatry, University of California San Diego, San Diego, California, USA
    Biol Psychiatry 56:217-24. 2004
    ..We examined the possibility that allelic variation leading to alterations in beta(1)-adrenergic function might be present in persons with elevated social anxiety-related traits...
  66. pmc Human haplotype block sizes are negatively correlated with recombination rates
    Tiffany A Greenwood
    Polymorphism Research Laboratory, Department of Psychiatry, University of California at San Diego, La Jolla, California 92093, USA
    Genome Res 14:1358-61. 2004
    ..We discuss the potential implications of this negative correlation in the context of the organization, properties, and potential ubiquity of a block-like structure in the human genome...
  67. pmc Statistical analysis strategies for association studies involving rare variants
    Vikas Bansal
    The Scripps Translational Science Institute, 3344 North Torrey Pines Court, Suite 300, La Jolla, California 92037, USA
    Nat Rev Genet 11:773-85. 2010
    ..Ultimately, although a wide variety of analytical approaches exist, more work is needed to refine them and determine their properties and power in different contexts...
  68. doi request reprint Human genetic variation and its contribution to complex traits
    Kelly A Frazer
    Scripps Genomic Medicine, Scripps Translational Science Institute and The Scripps Research Institute, La Jolla, California 92037, USA
    Nat Rev Genet 10:241-51. 2009
    ..Technological advances, such as the ability to detect rare and structural variants, and a clear understanding of the challenges in linking different types of variation with phenotype, will be essential for future progress...
  69. pmc A common MECP2 haplotype associates with reduced cortical surface area in humans in two independent populations
    Alexander H Joyner
    Scripps Translational Science Institute, 3344 North Torrey Pines Court, La Jolla, CA 92037, USA
    Proc Natl Acad Sci U S A 106:15483-8. 2009
    ..Secondary analysis showed that this allele was also associated with reduced surface area in specific cortical regions (cuneus, fusiform gyrus, pars triangularis) in both populations...
  70. pmc Detecting genetic variation in microarray expression data
    Jennifer A Greenhall
    The Salk Institute for Biological Studies, La Jolla, CA 92037, USA
    Genome Res 17:1228-35. 2007
    ..This approach enables the opportunistic extraction of genetic variation information from new or pre-existing gene expression data obtained with high-density oligonucleotide arrays...
  71. pmc The VA Hypertension Primary Care Longitudinal Cohort: Electronic medical records in the post-genomic era
    Rany M Salem
    University of California, San Diego, CA, USA
    Health Informatics J 16:274-86. 2010
    ..02 ± 0.12 micrograms, enough for several thousand genotypes. The coupling of detailed medical databases with genetic information has the potential to facilitate the genetic study of hypertension and other complex diseases...
  72. pmc The importance of phase information for human genomics
    Ryan Tewhey
    The Scripps Translational Science Institute, 3344 North Torrey Pines Road, Suite 300, La Jolla, California 92037, USA
    Nat Rev Genet 12:215-23. 2011
    ..Thus, the existing technological impediments to obtaining phase information must be overcome if human genomics is to reach its full potential...
  73. pmc Pathway analysis of seven common diseases assessed by genome-wide association
    Ali Torkamani
    Scripps Genomic Medicine, The Scripps Translational Science Institute, and Department of Molecular and Experimental Medicine, The Scripps Research Institute, La Jolla, CA 92037, USA
    Genomics 92:265-72. 2008
    ..Additionally, we analyze the genetic relationships between the seven diseases, and based upon similarities with respect to the associated genes and pathways affected in each, propose a new way of categorizing the diseases...
  74. pmc Diplotype trend regression analysis of the ADH gene cluster and the ALDH2 gene: multiple significant associations with alcohol dependence
    Xingguang Luo
    Department of Psychiatry, Yale University School of Medicine, New Haven, CT 06516, USA
    Am J Hum Genet 78:973-87. 2006
    ..We also found that several ADH genes and the ALDH2 gene were susceptibility loci for AD, and the associations were best explained by several independent risk genes...
  75. pmc Multi-site studies of acoustic startle and prepulse inhibition in humans: initial experience and methodological considerations based on studies by the Consortium on the Genetics of Schizophrenia
    Neal R Swerdlow
    Department of Psychiatry, University of California San Diego, San Diego, California, USA
    Schizophr Res 92:237-51. 2007
    ..Genetic studies now often employ multiple, geographically dispersed test sites to accommodate the need for large and complex study samples. Here, we assessed the feasibility of using PPI in multi-site studies...
  76. ncbi request reprint Gene-by-environment (serotonin transporter and childhood maltreatment) interaction for anxiety sensitivity, an intermediate phenotype for anxiety disorders
    Murray B Stein
    Anxiety and Traumatic Stress Disorders Program, Departments of Psychiatry and Family and Preventive Medicine, University of California San Diego, La Jolla, CA 92093 0855, USA
    Neuropsychopharmacology 33:312-9. 2008
    ..These findings are consistent with the notion that 5-HTTLPR operates broadly to moderate emotional responsivity to stress...
  77. pmc The Consortium on the Genetics of Endophenotypes in Schizophrenia: model recruitment, assessment, and endophenotyping methods for a multisite collaboration
    Monica E Calkins
    Neuropsychiatry Section, Department of Psychiatry, University of Pennsylvania, 10 Gates, 3400 Spruce St, Philadelphia, PA 19104, USA
    Schizophr Bull 33:33-48. 2007
    ..The purpose of this article is to provide a description of the COGS structure and methods, including participant recruitment and assessment...
  78. ncbi request reprint Genome-wide linkage analysis of chromogranin B expression in the CEPH pedigrees: implications for exocytotic sympathochromaffin secretion in humans
    Tiffany A Greenwood
    Department of Medicine, University of California at San Diego, USA
    Physiol Genomics 18:119-27. 2004
    ..Allelic variation in this region may thus influence effects of sympathetic outflow on target organs in humans...
  79. ncbi request reprint Evaluation of linkage disequilibrium between chromosome 22q11 single nucleotide polymorphisms in a large outbred population
    Sarah H Shaw
    Axys Pharmaceuticals Inc, La Jolla, California, USA
    Am J Med Genet 114:205-13. 2002
    ..30. Finally, we observed a 60 kb region with non-significant LD, which could reflect increased recombination in this region...
  80. ncbi request reprint Neuroendocrine transcriptome in genetic hypertension: multiple changes in diverse adrenal physiological systems
    Ryan S Fries
    Department of Bioengineering, University of California at San Diego, San Diego, Calif 92161, USA
    Hypertension 43:1301-11. 2004
    ..These analyses highlight widespread derangements in diverse physiological pathways, providing multiple avenues for further investigation into the pathogenesis of genetic hypertension...
  81. pmc The effects of globin on microarray-based gene expression analysis of mouse blood
    Mary E Winn
    Graduate Program in Biomedical Sciences, Department of Medicine, University of California at San Diego, La Jolla, CA 92093, USA
    Mamm Genome 21:268-75. 2010
    ....
  82. ncbi request reprint A new framework marker-based linkage map and SDPs for the rat HXB/BXH strain set
    Martin Jirout
    Department of Pharmacology 0636, University of California San Diego, La Jolla, California 92093 0636, USA
    Mamm Genome 14:537-46. 2003
    ..The new genotypic information obtained also permitted further genetic characterization of the RI strain set including strain independence, genetic similarity among the individual strains, and non-syntenic associations between loci...
  83. pmc Heritability of nonalcoholic fatty liver disease
    Jeffrey B Schwimmer
    Division of Gastroenterology, Hepatology, and Nutrition, Department of Pediatrics, University of California, San Diego School of Medicine, San Diego, California 92103, USA
    Gastroenterology 136:1585-92. 2009
    ..Therefore, a familial aggregation study was performed to test the hypothesis that NAFLD is highly heritable...
  84. pmc Mechanisms underlying hypoxia tolerance in Drosophila melanogaster: hairy as a metabolic switch
    Dan Zhou
    Department of Pediatrics, University of California San Diego, La Jolla, California, United States of America
    PLoS Genet 4:e1000221. 2008
    ....
  85. ncbi request reprint Tic symptom profiles in subjects with Tourette Syndrome from two genetically isolated populations
    Carol A Mathews
    Department of Psychiatry, University of California, San Diego, La Jolla, California 92093 0810, USA
    Biol Psychiatry 61:292-300. 2007
    ..Tourette Syndrome (TS) has a complex etiology and wide variability in phenotypic expression. Identifying underlying symptom patterns may be useful for etiological and outcome studies of TS...
  86. ncbi request reprint Admixture mapping as a gene discovery approach for complex human traits and diseases
    Caroline M Nievergelt
    Polymorphism Research Laboratory, Department of Psychiatry, University of California at San Diego, 2050 Basic Science Building, 9500 Gilman Drive, La Jolla, CA 92093 0603, USA
    Curr Hypertens Rep 7:31-7. 2005
    ..We conclude that AM has potential in the identification of disease-predisposing loci, but this potential may only exist in a limited number of realistic settings...
  87. ncbi request reprint Assessment of multiple displacement amplification for polymorphism discovery and haplotype determination at a highly polymorphic locus, MC1R
    Kenton K Murthy
    Polymorphism Research Laboratory, Department of Psychiatry, University of California at San Diego, La Jolla 92093, USA
    Hum Mutat 26:145-52. 2005
    ..At loci with multiple polymorphic sites in linkage disequilibrium, such as at MC1R, this bias can create a significant number of heterozygote genotype errors that subsequently misrepresents haplotypes...
  88. ncbi request reprint Successful aging: from phenotype to genotype
    Stephen J Glatt
    Veterans Medical Research Foundation, University of California at San Diego, La Jolla, CA 92093 0603, USA
    Biol Psychiatry 62:282-93. 2007
    ..In addition to reviewing this literature, we provide recommendations for advancing our understanding of the genetic basis of successful aging...
  89. pmc KCNMB1 genotype influences response to verapamil SR and adverse outcomes in the INternational VErapamil SR/Trandolapril STudy (INVEST)
    Amber L Beitelshees
    Department of Pharmacy Practice, University of Florida, College of Pharmacy, Gainesville, USA
    Pharmacogenet Genomics 17:719-29. 2007
    ....
  90. ncbi request reprint Genomic association/linkage of sodium lithium countertransport in CEPH pedigrees
    Nicholas J Schork
    Department of Epidemiology and Biostatistics, Case Western Reserve University, Cleveland, Ohio, USA
    Hypertension 40:619-28. 2002
    ..These findings support evidence that thiol groups play a central role in SLC activity...
  91. ncbi request reprint Gene mapping via the ancestral recombination graph
    Fabrice Larribe
    Departement de Mathematiques et de Statistique, Universite de Montreal, C P 6128, Succursale Centre Ville, Montreal, Quebec, Canada, H3C 3J7
    Theor Popul Biol 62:215-29. 2002
    ..Although the method is computationally intensive and variation in the likelihood profiles can occur, the method offers a great deal of promise...
  92. pmc Genetic structure, self-identified race/ethnicity, and confounding in case-control association studies
    Hua Tang
    Division of Public Health Sciences, Fred Hutchinson Cancer Research Center, Seattle, WA, USA
    Am J Hum Genet 76:268-75. 2005
    ..S. population. Implications of this genetic structure for case-control association studies are discussed...
  93. ncbi request reprint Segregation analysis of blood pressure and body mass index in a rural US community
    Swapan K Nath
    Arthritis and Immunology Research Program, Oklahoma Medical Research Foundation, Oklahoma City, USA
    Hum Biol 74:11-23. 2002
    ..Our analysis results support the segregation of a major gene for BMI, but not for SBP or DBP. A recessive locus effect provided the best explanation for BMI where approximately 43% of the variance of BMI was due to this gene...
  94. ncbi request reprint Accommodating pathway information in expression quantitative trait locus analysis
    Jennifer Wessel
    Polymorphism Research Laboratory, Department of Psychiatry, University of California at San Diego, La Jolla, CA 92093, USA
    Genomics 90:132-42. 2007
    ..We apply available genetic network and pathway analysis software, as well as a novel regression analysis technique, to carry out the proposed studies. We also consider extensions of the proposed strategies and areas of future research...
  95. ncbi request reprint Endophenotyping schizophrenia
    David Braff
    Am J Psychiatry 164:705-7. 2007
  96. ncbi request reprint A genome-wide linkage analysis investigating the determinants of blood pressure in whites and African Americans
    Bonnie A Thiel
    Department of Epidemiology and Biostatistics, Case Western Reserve University, Cleveland, Ohio, USA
    Am J Hypertens 16:151-3. 2003
    ..0057 and .00023, respectively) was found on chromosome 1. Our results support the idea that BP regulation is most likely governed by multiple genetic loci, each with a relatively weak effect on BP in the population at large...
  97. ncbi request reprint Successful multi-site measurement of antisaccade performance deficits in schizophrenia
    Allen D Radant
    Department of Psychiatry and Behavioral Sciences, University of Washington, Seattle, Washington, United States
    Schizophr Res 89:320-9. 2007
    ..These results confirm previous findings of antisaccade deficits in schizophrenia subjects and support the use of the antisaccade task as a potential schizophrenia endophenotype in multi-site genetic studies...
  98. pmc Single nucleotide polymorphism discovery and haplotype analysis of Ca2+-dependent K+ channel beta-1 subunit
    Yan Gong
    Center for Pharmacogenomics, College of Pharmacy, University of Florida, Gainesville, FL 32610, USA
    Pharmacogenet Genomics 17:267-75. 2007
    ....
  99. pmc Verbal working memory impairments in individuals with schizophrenia and their first-degree relatives: findings from the Consortium on the Genetics of Schizophrenia
    William P Horan
    Department of Psychiatry and Biobehavioral Sciences, Geffen School of Medicine at University of California Los Angeles, Los Angeles, California 90095 6968, USA
    Schizophr Res 103:218-28. 2008
    ....
  100. pmc Alpha-adducin polymorphism associated with increased risk of adverse cardiovascular outcomes: results from GENEtic Substudy of the INternational VErapamil SR-trandolapril STudy (INVEST-GENES)
    Tobias Gerhard
    College of Pharmacy, University of Florida, Gainesville, FL 32610 0486, USA
    Am Heart J 156:397-404. 2008
    ..The alpha-adducin (ADD1) Gly460Trp polymorphism has been associated with hypertension and response to diuretic therapy, but controversy exists...
  101. ncbi request reprint A genetic determinant that specifically regulates the frequency of hematopoietic stem cells
    Sean J Morrison
    Howard Hughes Medical Institute and Departments of Internal Medicine and Cell and Developmental Biology, University of Michigan, Ann Arbor, MI 48109, USA
    J Immunol 168:635-42. 2002
    ..This suggests that to affect HSC frequencies, the product(s) of this locus likely depend on interactions with unlinked modifying loci...