Research Topics
Genomes and Genes | Joanna M BiernackaSummaryAffiliation: Mayo Clinic Country: USA Publications
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Publications
Replication of genome wide association studies of alcohol dependence: support for association with variation in ADH1CJoanna M Biernacka
Department of Psychiatry and Psychology, Mayo Clinic, Rochester, Minnesota, United States of America
PLoS ONE 8:e58798. 2013..Further studies should investigate the association of other polymorphisms in this gene with alcohol dependence and related alcohol-use phenotypes...
Genome-wide gene-set analysis for identification of pathways associated with alcohol dependenceJoanna M Biernacka
Divisions of Biomedical Statistics and Informatics, Department of Health Sciences Research, Mayo Clinic, Rochester, MN, USA
Int J Neuropsychopharmacol 16:271-8. 2013..These findings demonstrate the utility of GSA in the study of complex disease, and suggest specific directions for further research into the genetic architecture of alcohol dependence...- Pharmacogenomics of antidepressant induced mania: a review and meta-analysis of the serotonin transporter gene (5HTTLPR) associationJoanna M Biernacka
Department of Psychiatry and Psychology, Mayo Clinic, Rochester, MN, USA
J Affect Disord 136:e21-9. 2012..This review and meta-analysis evaluates the evidence for association between the serotonin transporter gene promoter polymorphism (5HTTLPR) and AIM... - Exploring causality via identification of SNPs or haplotypes responsible for a linkage signalJoanna M Biernacka
Department of Medical Genetics, University of Cambridge, UK
Genet Epidemiol 31:727-40. 2007..We study properties of the proposed methods by simulation and apply them to type 1 diabetes data for ASPs and their parents at candidate SNP and microsatellite marker loci in the Insulin (INS) gene region... - Assessment of genotype imputation methodsJoanna M Biernacka
Department of Health Sciences Research, Mayo Clinic, 200 First Street Southwest, Rochester, MN 55905 USA
BMC Proc 3:S5. 2009..However, in both situations, none of the imputation-based tests provide the same level of evidence of association as the complete data at SNPs strongly associated with disease... - A composite-likelihood approach for identifying polymorphisms that are potentially directly associated with diseaseJoanna M Biernacka
Department of Health Sciences Research, Division of Biostatistics, Mayo Clinic, Rochester, MN 55905, USA
Eur J Hum Genet 17:644-50. 2009..We use simulations to demonstrate that the proposed method can lead to substantial power increases over the earlier single SNP analyses... - Trazodone and alcohol relapse: a retrospective study following residential treatmentBhanu Prakash Kolla
Department of Psychiatry, Mayo Clinic, Rochester, Minnesota, USA
Am J Addict 20:525-9. 2011..Our retrospective study of a complex patient population discharged from a residential treatment setting did not find an association between trazodone use at discharge and relapse rates at 6 months... - Genetic susceptibility loci, environmental exposures, and Parkinson's disease: A case-control study of gene-environment interactionsSun Ju Chung
Department of Neurology, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Republic of Korea Department of Neurology, Mayo Clinic, Rochester, MN, USA
Parkinsonism Relat Disord 19:595-9. 2013..Here we investigated the interactions between SNPs in those three susceptibility genes and environmental exposures (pesticides application, tobacco smoking, coffee drinking, and alcohol drinking) also associated with PD susceptibility... - Do interactions between SNCA, MAPT, and LRRK2 genes contribute to Parkinson's disease susceptibility?Joanna M Biernacka
Department of Health Sciences Research, Mayo Clinic, Rochester, MN 55095, USA
Parkinsonism Relat Disord 17:730-6. 2011..Here we investigated the association of PD with interactions between variants of these genes... - Variants in estrogen-related genes and risk of Parkinson's diseaseSun Ju Chung
Department of Neurology, Mayo Clinic, Rochester, Minnesota, USA
Mov Disord 26:1234-42. 2011..Our results confirm the association of PRDM2 variants with Parkinson's disease susceptibility, especially in women... - Genomic determinants of motor and cognitive outcomes in Parkinson's diseaseSun Ju Chung
Department of Neurology, Mayo Clinic, Rochester, MN, USA
Parkinsonism Relat Disord 18:881-6. 2012..Little is known regarding genetic factors associated with motor or cognitive outcomes in Parkinson's disease (PD)... - CYP2C19 variation and citalopram responseDavid A Mrazek
Department of Psychiatry and Psychology, Mayo Clinic College of Medicine, Mayo Clinic, Rochester, Minnesota 55905, USA
Pharmacogenet Genomics 21:1-9. 2011..Citalopram is metabolized by three CYP enzymes. CYP2C19 and CYP3A4 play a primary role in citalopram metabolism, whereas CYP2D6 plays a secondary role... - Gender differences in the relationship between depressive symptoms and cravings in alcoholismNelli Boykoff
Mayo Clinic College of Medicine, Rochester, Minnesota 55905, USA
Am J Addict 19:352-6. 2010..78). Further prospective study is encouraged to evaluate whether depressive symptoms and concomitant alcohol cravings in women are a marker for relief cravings and, as such, a target symptom for treatment intervention... - Utilization of residential alcoholism treatment in bipolar disorderDaniel K Hall-Flavin
Department of Psychiatry and Psychology, Mayo Clinic, Rochester, Minnesota 55905, USA
Am J Addict 20:40-4. 2011..Future studies are encouraged to better understand utilization rates of addiction treatment among patients with bipolar disorder and to identify clinical correlates that predispose bipolar women to high-dose drinking. .. - Single versus multiple imputation for genotypic dataBrooke L Fridley
Department of Health Sciences Research, Mayo Clinic, 200 First Street Southwest, Rochester, MN 55905, USA
BMC Proc 3:S7. 2009..This limited study involving four regions indicates that, contrary to expectations, multiple imputations may not be necessary... - Genetic variability in the NMDA-dependent AMPA trafficking cascade is associated with alcohol dependenceVictor M Karpyak
Department of Psychiatry and Psychology, Mayo Clinic, Rochester, MN, USA
Addict Biol 17:798-806. 2012..The statistically significant association of alcohol dependence with genetic variation in the NMDA-dependent AMPA receptor trafficking cascade indicates a need for further investigation of the role of this pathway in alcohol dependence... - Functional role of the polymorphic 647 T/C variant of ENT1 (SLC29A1) and its association with alcohol withdrawal seizuresJeong Hyun Kim
Department of Molecular Pharmacology and Experimental Therapeutics, Mayo Clinic College of Medicine, Rochester, Minnesota, United States of America
PLoS ONE 6:e16331. 2011..Interestingly, in humans, the ENT1 (SLC29A1) gene contains a non-synonymous single nucleotide polymorphism (647 T/C; rs45573936) that might be involved in the functional change of ENT1... - Use of the gamma method for self-contained gene-set analysis of SNP dataJoanna M Biernacka
Department of Health Sciences Research, Mayo Clinic, Rochester, MN 55905, USA
Eur J Hum Genet 20:565-71. 2012..We also applied all of the considered GSA methods to data from a pharmacogenomic study of cisplatin, and obtained evidence suggesting that the glutathione metabolism GS is associated with cisplatin drug response... - Effect of cytochrome P450 enzyme polymorphisms on pharmacokinetics of venlafaxineDonald E McAlpine
Mayo Clinic College of Medicine, Rochester, MN 55905, USA
Ther Drug Monit 33:14-20. 2011.... - Common variants in PARK loci and related genes and Parkinson's diseaseSun Ju Chung
Department of Neurology, Mayo Clinic, Rochester, Minnesota, USA
Mov Disord 26:280-8. 2011..Our results confirm the association of MAPT and SNCA genes with PD susceptibility but show limited association of other PARK loci and related genes with PD... - Sequence variations of the human MPDZ gene and association with alcoholism in subjects with European ancestryVictor M Karpyak
Department of Psychiatry and Psychology, Mayo Clinic, Rochester, Minnesota 55905, USA
Alcohol Clin Exp Res 33:712-21. 2009..Mpdz gene variations are known contributors of acute alcohol withdrawal severity and seizures in mice... - Identification of genes and haplotypes that predict rheumatoid arthritis using random forestsRui Tang
Department of Health Sciences Research, 200 First Street Southwest, Mayo Clinic, Rochester, Minnesota 55905, USA
BMC Proc 3:S68. 2009..Although RFs are a promising approach for genetic data analysis, extensions beyond simple single-nucleotide polymorphism analyses and modifications to improve computational feasibility are needed... - Interaction of SLC6A4 and DRD2 polymorphisms is associated with a history of delirium tremensVictor M Karpyak
Department of Psychiatry and Psychology, Mayo Clinic College of Medicine, 200 First Street SW, Rochester, MN 55905, USA
Addict Biol 15:23-34. 2010..This study provides the first evidence to implicate the interaction between serotonin and dopamine neurotransmission in the etiology of DT. Replication is necessary to verify this potentially important finding... - Joint linkage and association analysis for identification of potentially causal polymorphisms in GAW15 dataJoanna M Biernacka
Institute of Human Genetics, Newcastle University, International Centre for Life, Central Parkway, Newcastle upon Tyne, NE1 3BZ, UK
BMC Proc 1:S36. 2007..We compare the power of several methods for testing the null hypothesis that association with a particular variant can explain the observed linkage signal, and discuss scenarios under which the various methods may be advantageous... - Pretransplant psychiatric and substance use comorbidity in patients with cholangiocarcinoma who received a liver transplantTerry D Schneekloth
Department of Psychiatry and Psychology, Mayo Clinic Rochester, MN, USA
Psychosomatics 53:116-22. 2012..We assessed for pretransplant psychopathology and substance use disorders in liver transplant recipients with cholangiocarcinoma to better characterize this patient group... - Identification of gene-gene interaction using principal componentsJia Li
Department of Health Sciences Research, Mayo Clinic, 200 First Street SW, Harwick 776, Rochester, Minnesota 55905, USA
BMC Proc 3:S78. 2009..However, further study is needed to evaluate the power and the feasibility for a whole genome-wide association analysis using the principal components approach... - Gene set analysis of SNP data: benefits, challenges, and future directionsBrooke L Fridley
Division of Biomedical Statistics and Informatics, Department of Health Sciences Research, Mayo Clinic, Rochester, MN 55905, USA
Eur J Hum Genet 19:837-43. 2011..This paper provides an overview of GSA, highlighting the key challenges, potential solutions, and directions for ongoing research... - FKBP5 genetic variation: association with selective serotonin reuptake inhibitor treatment outcomes in major depressive disorderKatarzyna A Ellsworth
Department of Molecular Pharmacology and Experimental Therapeutics, Mayo Clinic, Rochester, Minnesota 55905, USA
Pharmacogenet Genomics 23:156-66. 2013.... - SNP interaction detection with Random Forests in high-dimensional genetic dataStacey J Winham
Department of Health Sciences Research, Mayo Clinic, 200 First Street Southwest, Rochester, MN 55905, USA
BMC Bioinformatics 13:164. 2012.... 
Perils and pitfalls of permutation tests for distinguishing the effects of neighbouring polymorphismsJoanna M Biernacka
Department of Medical Genetics, University of Cambridge, Cambridge Institute for Medical Research, Cambridge, UK
Genet Epidemiol 30:582-9. 2006..2005], which does not rely on haplotyping, and results in correct type 1 errors and potentially high power when assumptions of random mating, Hardy-Weinberg Equilibrium, and multiplicative effects of disease alleles are satisfied...- Linkage and association analysis of GAW15 simulated data: fine-mapping of chromosome 6 regionPimphen Charoen
University of Cambridge, Diabetes and Inflammation Laboratory, Department of Medical Genetics, CIMR, Addenbrookes Hospital, Cambridge, CB2 2XY, UK
BMC Proc 1:S23. 2007.... - Using linkage and association to identify and model genetic effects: summary of GAW15 Group 4Qiong Yang
Department of Biostatistics, Boston University School of Public Health, 715 Albany Street, Boston, MA 02118, USA
Genet Epidemiol 31:S34-42. 2007..Finally, modeling the disease using association evidence conditional on linkage may improve understanding of the etiology of disease... - Tests for the presence of two linked disease susceptibility genesJoanna M Biernacka
Department of Public Health Sciences, University of Toronto, Toronto, Canada
Genet Epidemiol 29:389-401. 2005..Power to detect the presence of two linked disease genes increased with the number of affected sib pairs, greater IBD sharing at the two loci, and larger distance between the two loci... - Simultaneous localization of two linked disease susceptibility genesJoanna M Biernacka
Department of Public Health Sciences, University of Toronto, Toronto, Canada
Genet Epidemiol 28:33-47. 2005..Joint localization of two disease genes improves with increased excess allele sharing at the disease gene loci, increased distance between the disease genes, and increased number of affected sib pairs in the sample...