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3. A genome-wide search for pleiotropy in more than 100,000 harmonized longitudinal cognitive domain scores

Author

Kang, Moonil, Ang, Ting Fang Alvin, Devine, Sherral A., Sherva, Richard, Mukherjee, Shubhabrata, Trittschuh, Emily H., Gibbons, Laura E., Scollard, Phoebe, Lee, Michael, Choi, Seo-Eun, Klinedinst, Brandon, Nakano, Connie, Dumitrescu, Logan C., Durant, Alaina, Hohman, Timothy J., Cuccaro, Michael L., Saykin, Andrew J., Kukull, Walter A., Bennett, David A., Wang, Li-San, Mayeux, Richard P., Haines, Jonathan L., Pericak-Vance, Margaret A., Schellenberg, Gerard D., Crane, Paul K., Au, Rhoda, Lunetta, Kathryn L., Mez, Jesse B., and Farrer, Lindsay A.

Published
2023
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4. African ancestry GWAS of dementia in a large military cohort identifies significant risk loci

Author

Sherva, Richard, Zhang, Rui, Sahelijo, Nathan, Jun, Gyungah, Anglin, Tori, Chanfreau, Catherine, Cho, Kelly, Fonda, Jennifer R., Gaziano, J. Michael, Harrington, Kelly M., Ho, Yuk-Lam, Kremen, William S., Litkowski, Elizabeth, Lynch, Julie, Neale, Zoe, Roussos, Panos, Marra, David, Mez, Jesse, Miller, Mark W., Salat, David H., Tsuang, Debby, Wolf, Erika, Zeng, Qing, Panizzon, Matthew S., Merritt, Victoria C., Farrer, Lindsay A., Hauger, Richard L., and Logue, Mark W.

Published
2023
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5. A large-scale genome-wide association study meta-analysis of cannabis use disorder.

Author

Johnson, Emma C, Demontis, Ditte, Thorgeirsson, Thorgeir E, Walters, Raymond K, Polimanti, Renato, Hatoum, Alexander S, Sanchez-Roige, Sandra, Paul, Sarah E, Wendt, Frank R, Clarke, Toni-Kim, Lai, Dongbing, Reginsson, Gunnar W, Zhou, Hang, He, June, Baranger, David AA, Gudbjartsson, Daniel F, Wedow, Robbee, Adkins, Daniel E, Adkins, Amy E, Alexander, Jeffry, Bacanu, Silviu-Alin, Bigdeli, Tim B, Boden, Joseph, Brown, Sandra A, Bucholz, Kathleen K, Bybjerg-Grauholm, Jonas, Corley, Robin P, Degenhardt, Louisa, Dick, Danielle M, Domingue, Benjamin W, Fox, Louis, Goate, Alison M, Gordon, Scott D, Hack, Laura M, Hancock, Dana B, Hartz, Sarah M, Hickie, Ian B, Hougaard, David M, Krauter, Kenneth, Lind, Penelope A, McClintick, Jeanette N, McQueen, Matthew B, Meyers, Jacquelyn L, Montgomery, Grant W, Mors, Ole, Mortensen, Preben B, Nordentoft, Merete, Pearson, John F, Peterson, Roseann E, Reynolds, Maureen D, Rice, John P, Runarsdottir, Valgerdur, Saccone, Nancy L, Sherva, Richard, Silberg, Judy L, Tarter, Ralph E, Tyrfingsson, Thorarinn, Wall, Tamara L, Webb, Bradley T, Werge, Thomas, Wetherill, Leah, Wright, Margaret J, Zellers, Stephanie, Adams, Mark J, Bierut, Laura J, Boardman, Jason D, Copeland, William E, Farrer, Lindsay A, Foroud, Tatiana M, Gillespie, Nathan A, Grucza, Richard A, Harris, Kathleen Mullan, Heath, Andrew C, Hesselbrock, Victor, Hewitt, John K, Hopfer, Christian J, Horwood, John, Iacono, William G, Johnson, Eric O, Kendler, Kenneth S, Kennedy, Martin A, Kranzler, Henry R, Madden, Pamela AF, Maes, Hermine H, Maher, Brion S, Martin, Nicholas G, McGue, Matthew, McIntosh, Andrew M, Medland, Sarah E, Nelson, Elliot C, Porjesz, Bernice, Riley, Brien P, Stallings, Michael C, Vanyukov, Michael M, Vrieze, Scott, Psychiatric Genomics Consortium Substance Use Disorders Workgroup, Davis, Lea K, Bogdan, Ryan, Gelernter, Joel, and Edenberg, Howard J

Subjects
Psychiatric Genomics Consortium Substance Use Disorders Workgroup, Humans, Marijuana Abuse, Risk, Polymorphism, Single Nucleotide, Genome-Wide Association Study, Polymorphism, Single Nucleotide, Clinical Sciences, Public Health and Health Services, Psychology
Abstract

BackgroundVariation in liability to cannabis use disorder has a strong genetic component (estimated twin and family heritability about 50-70%) and is associated with negative outcomes, including increased risk of psychopathology. The aim of the study was to conduct a large genome-wide association study (GWAS) to identify novel genetic variants associated with cannabis use disorder.MethodsTo conduct this GWAS meta-analysis of cannabis use disorder and identify associations with genetic loci, we used samples from the Psychiatric Genomics Consortium Substance Use Disorders working group, iPSYCH, and deCODE (20 916 case samples, 363 116 control samples in total), contrasting cannabis use disorder cases with controls. To examine the genetic overlap between cannabis use disorder and 22 traits of interest (chosen because of previously published phenotypic correlations [eg, psychiatric disorders] or hypothesised associations [eg, chronotype] with cannabis use disorder), we used linkage disequilibrium score regression to calculate genetic correlations.FindingsWe identified two genome-wide significant loci: a novel chromosome 7 locus (FOXP2, lead single-nucleotide polymorphism [SNP] rs7783012; odds ratio [OR] 1·11, 95% CI 1·07-1·15, p=1·84 × 10-9) and the previously identified chromosome 8 locus (near CHRNA2 and EPHX2, lead SNP rs4732724; OR 0·89, 95% CI 0·86-0·93, p=6·46 × 10-9). Cannabis use disorder and cannabis use were genetically correlated (rg 0·50, p=1·50 × 10-21), but they showed significantly different genetic correlations with 12 of the 22 traits we tested, suggesting at least partially different genetic underpinnings of cannabis use and cannabis use disorder. Cannabis use disorder was positively genetically correlated with other psychopathology, including ADHD, major depression, and schizophrenia.InterpretationThese findings support the theory that cannabis use disorder has shared genetic liability with other psychopathology, and there is a distinction between genetic liability to cannabis use and cannabis use disorder.FundingNational Institute of Mental Health; National Institute on Alcohol Abuse and Alcoholism; National Institute on Drug Abuse; Center for Genomics and Personalized Medicine and the Centre for Integrative Sequencing; The European Commission, Horizon 2020; National Institute of Child Health and Human Development; Health Research Council of New Zealand; National Institute on Aging; Wellcome Trust Case Control Consortium; UK Research and Innovation Medical Research Council (UKRI MRC); The Brain & Behavior Research Foundation; National Institute on Deafness and Other Communication Disorders; Substance Abuse and Mental Health Services Administration (SAMHSA); National Institute of Biomedical Imaging and Bioengineering; National Health and Medical Research Council (NHMRC) Australia; Tobacco-Related Disease Research Program of the University of California; Families for Borderline Personality Disorder Research (Beth and Rob Elliott) 2018 NARSAD Young Investigator Grant; The National Child Health Research Foundation (Cure Kids); The Canterbury Medical Research Foundation; The New Zealand Lottery Grants Board; The University of Otago; The Carney Centre for Pharmacogenomics; The James Hume Bequest Fund; National Institutes of Health: Genes, Environment and Health Initiative; National Institutes of Health; National Cancer Institute; The William T Grant Foundation; Australian Research Council; The Virginia Tobacco Settlement Foundation; The VISN 1 and VISN 4 Mental Illness Research, Education, and Clinical Centers of the US Department of Veterans Affairs; The 5th Framework Programme (FP-5) GenomEUtwin Project; The Lundbeck Foundation; NIH-funded Shared Instrumentation Grant S10RR025141; Clinical Translational Sciences Award grants; National Institute of Neurological Disorders and Stroke; National Heart, Lung, and Blood Institute; National Institute of General Medical Sciences.

Published
2020

6. A systems biology approach uncovers novel disease mechanisms in age-related macular degeneration

Author

Orozco, Luz D., Owen, Leah A., Hofmann, Jeffrey, Stockwell, Amy D., Tao, Jianhua, Haller, Susan, Mukundan, Vineeth T., Clarke, Christine, Lund, Jessica, Sridhar, Akshayalakshmi, Mayba, Oleg, Barr, Julie L., Zavala, Rylee A., Graves, Elijah C., Zhang, Charles, Husami, Nadine, Finley, Robert, Au, Elizabeth, Lillvis, John H., Farkas, Michael H., Shakoor, Akbar, Sherva, Richard, Kim, Ivana K., Kaminker, Joshua S., Townsend, Michael J., Farrer, Lindsay A., Yaspan, Brian L., Chen, Hsu-Hsin, and DeAngelis, Margaret M.

Published
2023
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7. Association of OPRM1 Functional Coding Variant With Opioid Use Disorder

Author

Zhou, Hang, Rentsch, Christopher T, Cheng, Zhongshan, Kember, Rachel L, Nunez, Yaira Z, Sherva, Richard M, Tate, Janet P, Dao, Cecilia, Xu, Ke, Polimanti, Renato, Farrer, Lindsay A, Justice, Amy C, Kranzler, Henry R, and Gelernter, Joel

Subjects
Human Genome, Brain Disorders, Substance Misuse, Genetics, Drug Abuse (NIDA only), Aetiology, 2.1 Biological and endogenous factors, Mental health, Good Health and Well Being, Aged, Female, Genome-Wide Association Study, Humans, Male, Middle Aged, Opioid-Related Disorders, Receptors, Opioid, mu, United States, United States Department of Veterans Affairs, Neurosciences, Stem Cell Research, Stem Cell Research - Nonembryonic - Human, Biotechnology, Pediatric, 1.1 Normal biological development and functioning, Underpinning research, Neurological, Animals, Autism Spectrum Disorder, Brain, Cerebral Cortex, Epigenesis, Genetic, Epigenomics, Evolution, Molecular, Gene Expression, Histone Code, Interneurons, Macaca mulatta, Neurons, Pan troglodytes, Primates, Regulatory Elements, Transcriptional, Regulatory Sequences, Nucleic Acid, Transcriptome, H3K27ac histone modification, regulatory elements, glutamatergic neurons, GABAergic neurons, primate evolution, Other Medical and Health Sciences, Psychology, Cognitive Sciences
Abstract

The human cerebral cortex contains many cell types that likely underwent independent functional changes during evolution. However, cell-type-specific regulatory landscapes in the cortex remain largely unexplored. Here we report epigenomic and transcriptomic analyses of the two main cortical neuronal subtypes, glutamatergic projection neurons and GABAergic interneurons, in human, chimpanzee, and rhesus macaque. Using genome-wide profiling of the H3K27ac histone modification, we identify neuron-subtype-specific regulatory elements that previously went undetected in bulk brain tissue samples. Human-specific regulatory changes are uncovered in multiple genes, including those associated with language, autism spectrum disorder, and drug addiction. We observe preferential evolutionary divergence in neuron subtype-specific regulatory elements and show that a substantial fraction of pan-neuronal regulatory elements undergoes subtype-specific evolutionary changes. This study sheds light on the interplay between regulatory evolution and cell-type-dependent gene-expression programs, and provides a resource for further exploration of human brain evolution and function.

Published
2020

8. Post-GWAS analysis of six substance use traits improves the identification and functional interpretation of genetic risk loci

Author

Marees, Andries T, Gamazon, Eric R, Gerring, Zachary, Vorspan, Florence, Fingal, Josh, van den Brink, Wim, Smit, Dirk JA, Verweij, Karin JH, Kranzler, Henry R, Sherva, Richard, Farrer, Lindsay, Consortium, International Cannabis, Gelernter, Joel, and Derks, Eske M

Subjects
Biological Sciences, Genetics, Drug Abuse (NIDA only), Substance Misuse, Biotechnology, Brain Disorders, Mental health, Cardiovascular, Good Health and Well Being, Blood, Brain, Drug Users, Gene Expression Profiling, Gene Expression Regulation, Genetic Predisposition to Disease, Humans, Meta-Analysis as Topic, Phenotype, Quantitative Trait Loci, Substance-Related Disorders, Transcriptome, Addiction, eQTLs, Functional annotation, GTEx, Substance use, S-PrediXcan, International Cannabis Consortium, Medical and Health Sciences, Psychology and Cognitive Sciences, Substance Abuse, Biochemistry and cell biology, Pharmacology and pharmaceutical sciences, Epidemiology
Abstract

BackgroundLittle is known about the functional mechanisms through which genetic loci associated with substance use traits ascertain their effect. This study aims to identify and functionally annotate loci associated with substance use traits based on their role in genetic regulation of gene expression.MethodsWe evaluated expression Quantitative Trait Loci (eQTLs) from 13 brain regions and whole blood of the Genotype-Tissue Expression (GTEx) database, and from whole blood of the Depression Genes and Networks (DGN) database. The role of single eQTLs was examined for six substance use traits: alcohol consumption (N = 537,349), cigarettes per day (CPD; N = 263,954), former vs. current smoker (N = 312,821), age of smoking initiation (N = 262,990), ever smoker (N = 632,802), and cocaine dependence (N = 4,769). Subsequently, we conducted a gene level analysis of gene expression on these substance use traits using S-PrediXcan.ResultsUsing an FDR-adjusted p-value

Published
2020

9. Transancestral GWAS of alcohol dependence reveals common genetic underpinnings with psychiatric disorders

Author

Walters, Raymond K, Polimanti, Renato, Johnson, Emma C, McClintick, Jeanette N, Adams, Mark J, Adkins, Amy E, Aliev, Fazil, Bacanu, Silviu-Alin, Batzler, Anthony, Bertelsen, Sarah, Biernacka, Joanna M, Bigdeli, Tim B, Chen, Li-Shiun, Clarke, Toni-Kim, Chou, Yi-Ling, Degenhardt, Franziska, Docherty, Anna R, Edwards, Alexis C, Fontanillas, Pierre, Foo, Jerome C, Fox, Louis, Frank, Josef, Giegling, Ina, Gordon, Scott, Hack, Laura M, Hartmann, Annette M, Hartz, Sarah M, Heilmann-Heimbach, Stefanie, Herms, Stefan, Hodgkinson, Colin, Hoffmann, Per, Jan Hottenga, Jouke, Kennedy, Martin A, Alanne-Kinnunen, Mervi, Konte, Bettina, Lahti, Jari, Lahti-Pulkkinen, Marius, Lai, Dongbing, Ligthart, Lannie, Loukola, Anu, Maher, Brion S, Mbarek, Hamdi, McIntosh, Andrew M, McQueen, Matthew B, Meyers, Jacquelyn L, Milaneschi, Yuri, Palviainen, Teemu, Pearson, John F, Peterson, Roseann E, Ripatti, Samuli, Ryu, Euijung, Saccone, Nancy L, Salvatore, Jessica E, Sanchez-Roige, Sandra, Schwandt, Melanie, Sherva, Richard, Streit, Fabian, Strohmaier, Jana, Thomas, Nathaniel, Wang, Jen-Chyong, Webb, Bradley T, Wedow, Robbee, Wetherill, Leah, Wills, Amanda G, Boardman, Jason D, Chen, Danfeng, Choi, Doo-Sup, Copeland, William E, Culverhouse, Robert C, Dahmen, Norbert, Degenhardt, Louisa, Domingue, Benjamin W, Elson, Sarah L, Frye, Mark A, Gäbel, Wolfgang, Hayward, Caroline, Ising, Marcus, Keyes, Margaret, Kiefer, Falk, Kramer, John, Kuperman, Samuel, Lucae, Susanne, Lynskey, Michael T, Maier, Wolfgang, Mann, Karl, Männistö, Satu, Müller-Myhsok, Bertram, Murray, Alison D, Nurnberger, John I, Palotie, Aarno, Preuss, Ulrich, Räikkönen, Katri, Reynolds, Maureen D, Ridinger, Monika, Scherbaum, Norbert, Schuckit, Marc A, Soyka, Michael, Treutlein, Jens, Witt, Stephanie, and Wodarz, Norbert

Subjects
Biological Psychology, Pharmacology and Pharmaceutical Sciences, Biomedical and Clinical Sciences, Psychology, Alcoholism, Alcohol Use and Health, Neurosciences, Brain Disorders, Substance Misuse, Mental Health, Genetics, Behavioral and Social Science, Human Genome, 2.1 Biological and endogenous factors, Aetiology, Mental health, Good Health and Well Being, Alcoholism, Alleles, Genetic Predisposition to Disease, Genome-Wide Association Study, Genotype, Humans, Mental Disorders, Phenotype, Polymorphism, Single Nucleotide, 23andMe Research Team, Cognitive Sciences, Neurology & Neurosurgery, Biological psychology
Abstract

Liability to alcohol dependence (AD) is heritable, but little is known about its complex polygenic architecture or its genetic relationship with other disorders. To discover loci associated with AD and characterize the relationship between AD and other psychiatric and behavioral outcomes, we carried out the largest genome-wide association study to date of DSM-IV-diagnosed AD. Genome-wide data on 14,904 individuals with AD and 37,944 controls from 28 case-control and family-based studies were meta-analyzed, stratified by genetic ancestry (European, n = 46,568; African, n = 6,280). Independent, genome-wide significant effects of different ADH1B variants were identified in European (rs1229984; P = 9.8 × 10-13) and African ancestries (rs2066702; P = 2.2 × 10-9). Significant genetic correlations were observed with 17 phenotypes, including schizophrenia, attention deficit-hyperactivity disorder, depression, and use of cigarettes and cannabis. The genetic underpinnings of AD only partially overlap with those for alcohol consumption, underscoring the genetic distinction between pathological and nonpathological drinking behaviors.

Published
2018

10. Multi-trait genome-wide association study of opioid addiction: OPRM1 and beyond

Author

Gaddis, Nathan, Mathur, Ravi, Marks, Jesse, Zhou, Linran, Quach, Bryan, Waldrop, Alex, Levran, Orna, Agrawal, Arpana, Randesi, Matthew, Adelson, Miriam, Jeffries, Paul W., Martin, Nicholas G., Degenhardt, Louisa, Montgomery, Grant W., Wetherill, Leah, Lai, Dongbing, Bucholz, Kathleen, Foroud, Tatiana, Porjesz, Bernice, Runarsdottir, Valgerdur, Tyrfingsson, Thorarinn, Einarsson, Gudmundur, Gudbjartsson, Daniel F., Webb, Bradley Todd, Crist, Richard C., Kranzler, Henry R., Sherva, Richard, Zhou, Hang, Hulse, Gary, Wildenauer, Dieter, Kelty, Erin, Attia, John, Holliday, Elizabeth G., McEvoy, Mark, Scott, Rodney J., Schwab, Sibylle G., Maher, Brion S., Gruza, Richard, Kreek, Mary Jeanne, Nelson, Elliot C., Thorgeirsson, Thorgeir, Stefansson, Kari, Berrettini, Wade H., Gelernter, Joel, Edenberg, Howard J., Bierut, Laura, Hancock, Dana B., and Johnson, Eric Otto

Published
2022
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11. Subjective Cognitive Decline Plus and Longitudinal Assessment and Risk for Cognitive Impairment.

Author

Kang, Moonil, Li, Clara, Mahajan, Arnav, Spat-Lemus, Jessica, Durape, Shruti, Chen, Jiachen, Gurnani, Ashita S., Devine, Sherral, Auerbach, Sanford H., Ang, Ting Fang Alvin, Sherva, Richard, Qiu, Wei Qiao, Lunetta, Kathryn L., Au, Rhoda, Farrer, Lindsay A., and Mez, Jesse

Subjects
GENETIC risk score, MILD cognitive impairment, ALZHEIMER'S disease, COGNITION disorders, DISEASE risk factors
Abstract

This cohort study investigates the risk of mild cognitive impairment, Alzheimer disease, and all-cause dementia associated with subjective cognitive decline using the subjective cognitive decline–plus criteria among cognitively normal adults in the community. Key Points: Question: Among cognitively normal adults in the community, what is the risk from subjective cognitive decline (SCD), using SCD-plus (SCD+) criteria and assessed longitudinally, associated with mild cognitive impairment (MCI), Alzheimer disease (AD), and all-cause dementia? Findings: In this cohort study using longitudinal data from the Framingham Heart Study including 3585 participants, SCD+ was significantly associated with survival time to MCI, AD, and all-cause dementia. Associations were independent of APOE status and an AD polygenic risk score. Meaning: In a community setting, SCD+ was associated with an increased risk of future MCI, AD, and all-cause dementia with similar hazards estimated in clinic-based settings. Importance: Subjective cognitive decline (SCD) is recognized to be in the Alzheimer disease (AD) cognitive continuum. The SCD Initiative International Working Group recently proposed SCD-plus (SCD+) features that increase risk for future objective cognitive decline but that have not been assessed in a large community-based setting. Objective: To assess SCD risk for mild cognitive impairment (MCI), AD, and all-cause dementia, using SCD+ criteria among cognitively normal adults. Design, Setting, and Participants: The Framingham Heart Study, a community-based prospective cohort study, assessed SCD between 2005 and 2019, with up to 12 years of follow-up. Participants 60 years and older with normal cognition at analytic baseline were included. Cox proportional hazards (CPH) models were adjusted for baseline age, sex, education, APOE ε4 status, and tertiles of AD polygenic risk score (PRS), excluding the APOE region. Data were analyzed from May 2021 to November 2023. Exposure: SCD was assessed longitudinally using a single question and considered present if endorsed at the last cognitively normal visit. It was treated as a time-varying variable, beginning at the first of consecutive, cognitively normal visits, including the last, at which it was endorsed. Main Outcomes and Measures: Consensus-diagnosed MCI, AD, and all-cause dementia. Results: This study included 3585 participants (mean [SD] baseline age, 68.0 [7.7] years; 1975 female [55.1%]). A total of 1596 participants (44.5%) had SCD, and 770 (21.5%) were carriers of APOE ε4. APOE ε4 and tertiles of AD PRS status did not significantly differ between the SCD and non-SCD groups. MCI, AD, and all-cause dementia were diagnosed in 236 participants (6.6%), 73 participants (2.0%), and 89 participants (2.5%), respectively, during follow-up. On average, SCD preceded MCI by 4.4 years, AD by 6.8 years, and all-cause dementia by 6.9 years. SCD was significantly associated with survival time to MCI (hazard ratio [HR], 1.57; 95% CI, 1.22-2.03; P <.001), AD (HR, 2.98; 95% CI, 1.89-4.70; P <.001), and all-cause dementia (HR, 2.14; 95% CI, 1.44-3.18; P <.001). After adjustment for APOE and AD PRS, the hazards of SCD were largely unchanged. Conclusions and Relevance: Results of this cohort study suggest that in a community setting, SCD reflecting SCD+ features was associated with an increased risk of future MCI, AD, and all-cause dementia with similar hazards estimated in clinic-based settings. SCD may be an independent risk factor for AD and other dementias beyond the risk incurred by APOE ε4 and AD PRS. [ABSTRACT FROM AUTHOR]

Published
2024
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12. Role of the X Chromosome in Alzheimer Disease Genetics.

Author

Belloy, Michael E., Le Guen, Yann, Stewart, Ilaria, Williams, Kennedy, Herz, Joachim, Sherva, Richard, Zhang, Rui, Merritt, Victoria, Panizzon, Matthew S., Hauger, Richard L., Gaziano, J. Michael, Logue, Mark, Napolioni, Valerio, and Greicius, Michael D.

Published
2024
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13. Genome‐wide association meta‐analysis of age at first cannabis use

Author

Minică, Camelia C, Verweij, Karin JH, van der Most, Peter J, Mbarek, Hamdi, Bernard, Manon, van Eijk, Kristel R, Lind, Penelope A, Liu, Meng Zhen, Maciejewski, Dominique F, Palviainen, Teemu, Sánchez‐Mora, Cristina, Sherva, Richard, Taylor, Michelle, Walters, Raymond K, Abdellaoui, Abdel, Bigdeli, Timothy B, Branje, Susan JT, Brown, Sandra A, Casas, Miguel, Corley, Robin P, Davey‐Smith, George, Davies, Gareth E, Ehli, Erik A, Farrer, Lindsay, Fedko, Iryna O, Garcia‐Martínez, Iris, Gordon, Scott D, Hartman, Catharina A, Heath, Andrew C, Hickie, Ian B, Hickman, Matthew, Hopfer, Christian J, Hottenga, Jouke Jan, Kahn, René S, Kaprio, Jaakko, Korhonen, Tellervo, Kranzler, Henry R, Krauter, Ken, van Lier, Pol AC, Madden, Pamela AF, Medland, Sarah E, Neale, Michael C, Meeus, Wim HJ, Montgomery, Grant W, Nolte, Ilja M, Oldehinkel, Albertine J, Pausova, Zdenka, Ramos‐Quiroga, Josep A, Richarte, Vanesa, Rose, Richard J, Shin, Jean, Stallings, Michael C, Wall, Tamara L, Ware, Jennifer J, Wright, Margaret J, Zhao, Hongyu, Koot, Hans M, Paus, Tomas, Hewitt, John K, Ribasés, Marta, Loukola, Anu, Boks, Marco P, Snieder, Harold, Munafò, Marcus R, Gelernter, Joel, Boomsma, Dorret I, Martin, Nicholas G, Gillespie, Nathan A, Vink, Jacqueline M, and Derks, Eske M

Subjects
Biological Psychology, Epidemiology, Health Sciences, Psychology, Biotechnology, Brain Disorders, Substance Misuse, Genetics, Human Genome, Drug Abuse (NIDA only), Prevention, 2.1 Biological and endogenous factors, Aetiology, Mental health, Good Health and Well Being, Adolescent, Adult, Age of Onset, Calcium-Transporting ATPases, Female, Genome-Wide Association Study, Humans, Male, Marijuana Use, Middle Aged, Polymorphism, Single Nucleotide, Twins, Young Adult, Age at first use, ATP2C2, cannabis initiation, genome-wide association, heritability, substance use, Medical and Health Sciences, Psychology and Cognitive Sciences, Substance Abuse, Public health, Clinical and health psychology
Abstract

Background and aimsCannabis is one of the most commonly used substances among adolescents and young adults. Earlier age at cannabis initiation is linked to adverse life outcomes, including multi-substance use and dependence. This study estimated the heritability of age at first cannabis use and identified associations with genetic variants.MethodsA twin-based heritability analysis using 8055 twins from three cohorts was performed. We then carried out a genome-wide association meta-analysis of age at first cannabis use in a discovery sample of 24 953 individuals from nine European, North American and Australian cohorts, and a replication sample of 3735 individuals.ResultsThe twin-based heritability for age at first cannabis use was 38% [95% confidence interval (CI) = 19-60%]. Shared and unique environmental factors explained 39% (95% CI = 20-56%) and 22% (95% CI = 16-29%). The genome-wide association meta-analysis identified five single nucleotide polymorphisms (SNPs) on chromosome 16 within the calcium-transporting ATPase gene (ATP2C2) at P  0.8), with the strongest association at the intronic variant rs1574587 (P = 4.09E-09). Gene-based tests of association identified the ATP2C2 gene on 16q24.1 (P = 1.33e-06). Although the five SNPs and ATP2C2 did not replicate, ATP2C2 has been associated with cocaine dependence in a previous study. ATP2B2, which is a member of the same calcium signalling pathway, has been associated previously with opioid dependence. SNP-based heritability for age at first cannabis use was non-significant.ConclusionAge at cannabis initiation appears to be moderately heritable in western countries, and individual differences in onset can be explained by separate but correlated genetic liabilities. The significant association between age of initiation and ATP2C2 is consistent with the role of calcium signalling mechanisms in substance use disorders.

Published
2018

14. Transethnic genome‐wide scan identifies novel Alzheimer's disease loci

Author

Jun, Gyungah R, Chung, Jaeyoon, Mez, Jesse, Barber, Robert, Beecham, Gary W, Bennett, David A, Buxbaum, Joseph D, Byrd, Goldie S, Carrasquillo, Minerva M, Crane, Paul K, Cruchaga, Carlos, De Jager, Philip, Ertekin‐Taner, Nilufer, Evans, Denis, Fallin, M Danielle, Foroud, Tatiana M, Friedland, Robert P, Goate, Alison M, Graff‐Radford, Neill R, Hendrie, Hugh, Hall, Kathleen S, Hamilton‐Nelson, Kara L, Inzelberg, Rivka, Kamboh, M Ilyas, Kauwe, John SK, Kukull, Walter A, Kunkle, Brian W, Kuwano, Ryozo, Larson, Eric B, Logue, Mark W, Manly, Jennifer J, Martin, Eden R, Montine, Thomas J, Mukherjee, Shubhabrata, Naj, Adam, Reiman, Eric M, Reitz, Christiane, Sherva, Richard, St. George‐Hyslop, Peter H, Thornton, Timothy, Younkin, Steven G, Vardarajan, Badri N, Wang, Li‐San, Wendlund, Jens R, Winslow, Ashley R, Adams, Perrie M, Albert, Marilyn S, Albin, Roger L, Apostolova, Liana G, Arnold, Steven E, Asthana, Sanjay, Atwood, Craig S, Barmada, Michjael M, Barnes, Lisa L, Beach, Thomas G, Becker, James T, Bigio, Eileen H, Bird, Thomas D, Blacker, Deborah, Boeve, Bradley F, Bowen, James D, Boxer, Adam, Burke, James R, Cairns, Nigel J, Cao, Chuanhai, Carlson, Chris S, Carlsson, Cynthia M, Carney, Regina M, Carroll, Steven L, Chui, Helena C, Clark, David G, Corneveaux, Jason, Cribbs, David H, Crocco, Elizabeth A, De Jager, Philip L, DeCarli, Charles, DeKosky, Steven T, Demirci, F Yesim, Dick, Malcolm, Dickson, Dennis W, Doody, Rachelle S, Duara, Ranjan, Faber, Kelley M, Fairchild, Thomas J, Fallon, Kenneth B, Farlow, Martin R, Ferris, Steven, Frosch, Matthew P, Galasko, Douglas R, Gearing, Marla, Geschwind, Daniel H, Ghetti, Bernardino, Gilbert, John R, Glass, Jonathan D, Green, Robert C, and Growdon, John H

Subjects
Biomedical and Clinical Sciences, Biological Psychology, Clinical Sciences, Neurosciences, Psychology, Neurodegenerative, Genetics, Dementia, Alzheimer's Disease, Aging, Prevention, Brain Disorders, Alzheimer's Disease including Alzheimer's Disease Related Dementias (AD/ADRD), Human Genome, Acquired Cognitive Impairment, 2.1 Biological and endogenous factors, Aetiology, Adaptor Proteins, Signal Transducing, Alzheimer Disease, Apolipoprotein E4, GTPase-Activating Proteins, Genetic Predisposition to Disease, Genome-Wide Association Study, Heparin-binding EGF-like Growth Factor, Humans, Membrane Glycoproteins, Molecular Chaperones, NFI Transcription Factors, Peroxisomal Bifunctional Enzyme, Polymorphism, Single Nucleotide, Receptors, GABA, Alzheimer's Disease Genetics Consortium, APOE interaction, Alzheimer's disease, Genome-wide association, Transethnic, Geriatrics, Clinical sciences, Biological psychology
Abstract

IntroductionGenetic loci for Alzheimer's disease (AD) have been identified in whites of European ancestry, but the genetic architecture of AD among other populations is less understood.MethodsWe conducted a transethnic genome-wide association study (GWAS) for late-onset AD in Stage 1 sample including whites of European Ancestry, African-Americans, Japanese, and Israeli-Arabs assembled by the Alzheimer's Disease Genetics Consortium. Suggestive results from Stage 1 from novel loci were followed up using summarized results in the International Genomics Alzheimer's Project GWAS dataset.ResultsGenome-wide significant (GWS) associations in single-nucleotide polymorphism (SNP)-based tests (P

Published
2017

15. A large-scale genome-wide association study meta-analysis of cannabis use disorder

Author

Walters, Raymond, Polimanti, Renato, Johnson, Emma, McClintick, Jeanette, Hatoum, Alexander, He, June, Wendt, Frank, Zhou, Hang, Adams, Mark, Adkins, Amy, Aliev, Fazil, Bacanu, Silviu-Alin, Batzler, Anthony, Bertelsen, Sarah, Biernacka, Joanna, Bigdeli, Tim, Chen, Li-Shiun, Clarke, Toni-Kim, Chou, Yi-Ling, Degenhardt, Franziska, Docherty, Anna, Edwards, Alexis, Fontanillas, Pierre, Foo, Jerome, Fox, Louis, Frank, Josef, Giegling, Ina, Gordon, Scott, Hack, Laura, Hartmann, Annette, Hartz, Sarah, Heilmann-Heimbach, Stefanie, Herms, Stefan, Hodgkinson, Colin, Hoffman, Per, Hottenga, Jouke, Kennedy, Martin, Alanne-Kinnunen, Mervi, Konte, Bettina, Lahti, Jari, Lahti-Pulkkinen, Marius, Lai, Dongbing, Ligthart, Lannie, Loukola, Anu, Maher, Brion, Mbarek, Hamdi, McIntosh, Andrew, McQueen, Matthew, Meyers, Jacquelyn, Milaneschi, Yuri, Palviainen, Teemu, Pearson, John, Peterson, Roseann, Ripatti, Samuli, Ryu, Euijung, Saccone, Nancy, Salvatore, Jessica, Sanchez-Roige, Sandra, Schwandt, Melanie, Sherva, Richard, Streit, Fabian, Strohmaier, Jana, Thomas, Nathaniel, Wang, Jen-Chyong, Webb, Bradley, Wedow, Robbee, Wetherill, Leah, Wills, Amanda, Boardman, Jason, Chen, Danfeng, Choi, Doo-Sup, Copeland, William, Culverhouse, Robert, Dahmen, Norbert, Degenhardt, Louisa, Domingue, Benjamin, Elson, Sarah, Frye, Mark, Gäbel, Wolfgang, Hayward, Caroline, Ising, Marcus, Keyes, Margaret, Kiefer, Falk, Kramer, John, Kuperman, Samuel, Lucae, Susanne, Lynskey, Michael, Maier, Wolfgang, Mann, Karl, Männistö, Satu, Müller-Myhsok, Bertram, Murray, Alison, Nurnberger, John, Palotie, Aarno, Preuss, Ulrich, Räikkönen, Katri, Reynolds, Maureen, Ridinger, Monika, Scherbaum, Norbert, Schuckit, Marc, Soyka, Michael, Treutlein, Jens, Witt, Stephanie, Wodarz, Norbert, Zill, Peter, Adkins, Daniel, Boden, Joseph, Boomsma, Dorret, Bierut, Laura, Brown, Sandra, Bucholz, Kathleen, Cichon, Sven, Costello, E. Jane, de Wit, Harriet, Diazgranados, Nancy, Dick, Danielle, Eriksson, Johan, Farrer, Lindsay, Foroud, Tatiana, Gillespie, Nathan, Goate, Alison, Goldman, David, Grucza, Richard, Hancock, Dana, Harris, Kathleen Mullan, Heath, Andrew, Hesselbrock, Victor, Hewitt, John, Hopfer, Christian, Horwood, John, Iacono, William, Johnson, Eric, Kaprio, Jaakko, Karpyak, Victor, Kendler, Kenneth, Kranzler, Henry, Krauter, Kenneth, Lichtenstein, Paul, Lind, Penelope, McGue, Matt, MacKillop, James, Madden, Pamela, Maes, Hermine, Magnusson, Patrik, Martin, Nicholas, Medland, Sarah, Montgomery, Grant, Nelson, Elliot, Nöthen, Markus, Palmer, Abraham, Pederson, Nancy, Penninx, Brenda, Porjesz, Bernice, Rice, John, Rietschel, Marcella, Riley, Brien, Rose, Richard, Rujescu, Dan, Shen, Pei-Hong, Silberg, Judy, Stallings, Michael, Tarter, Ralph, Vanyukov, Michael, Vrieze, Scott, Wall, Tamara, Whitfield, John, Zhao, Hongyu, Neale, Benjamin, Gelernter, Joel, Edenberg, Howard, Agrawal, Arpana, Johnson, Emma C, Demontis, Ditte, Thorgeirsson, Thorgeir E, Walters, Raymond K, Hatoum, Alexander S, Paul, Sarah E, Wendt, Frank R, Reginsson, Gunnar W, Baranger, David A A, Gudbjartsson, Daniel F, Adkins, Daniel E, Adkins, Amy E, Alexander, Jeffry, Bigdeli, Tim B, Brown, Sandra A, Bucholz, Kathleen K, Bybjerg-Grauholm, Jonas, Corley, Robin P, Dick, Danielle M, Domingue, Benjamin W, Goate, Alison M, Gordon, Scott D, Hack, Laura M, Hancock, Dana B, Hartz, Sarah M, Hickie, Ian B, Hougaard, David M, Lind, Penelope A, McClintick, Jeanette N, McQueen, Matthew B, Meyers, Jacquelyn L, Montgomery, Grant W, Mors, Ole, Mortensen, Preben B, Nordentoft, Merete, Pearson, John F, Peterson, Roseann E, Reynolds, Maureen D, Rice, John P, Runarsdottir, Valgerdur, Saccone, Nancy L, Silberg, Judy L, Tarter, Ralph E, Tyrfingsson, Thorarinn, Wall, Tamara L, Webb, Bradley T, Werge, Thomas, Wright, Margaret J, Zellers, Stephanie, Adams, Mark J, Bierut, Laura J, Boardman, Jason D, Copeland, William E, Farrer, Lindsay A, Foroud, Tatiana M, Gillespie, Nathan A, Grucza, Richard A, Heath, Andrew C, Hewitt, John K, Hopfer, Christian J, Iacono, William G, Johnson, Eric O, Kendler, Kenneth S, Kennedy, Martin A, Kranzler, Henry R, Madden, Pamela A F, Maes, Hermine H, Maher, Brion S, Martin, Nicholas G, McGue, Matthew, McIntosh, Andrew M, Medland, Sarah E, Nelson, Elliot C, Riley, Brien P, Stallings, Michael C, Vanyukov, Michael M, Davis, Lea K, Bogdan, Ryan, Edenberg, Howard J, Stefansson, Kari, and Børglum, Anders D

Published
2020
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17. MAPT subhaplotypes and chronic traumatic encephalopathy

Author

Han, Xudong, primary, Petrosky, Jillian, additional, Bald, Sarah, additional, Zhang, Yichi, additional, Sherva, Richard, additional, Chung, Jaeyoon, additional, Abdolmohammadi, Bobak, additional, Durape, Shruti, additional, Martin, Brett M, additional, Palmisano, Joseph N, additional, Farrell, Kurt W., additional, Farrell, John, additional, Cherry, Jonathan D, additional, Alvarez, Victor E., additional, Huber, Bertrand R., additional, Alosco, Michael L, additional, Tripodis, Yorghos, additional, Stern, Robert A, additional, Stein, Thor D., additional, Farrer, Lindsay A., additional, Crary, John F., additional, McKee, Ann C., additional, and Mez, Jesse B., additional

Published
2023
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18. Association Between HSV‐1 and Risk of Alzheimer’s Disease Detected by a Propensity‐Score Matched Case Design

Author

Tejeda, Marlene, primary, Farrell, John, additional, Zhu, Congcong, additional, Wetzler, Lee, additional, Lunetta, Kathryn L., additional, Bush, William S., additional, Martin, Eden R., additional, Wang, Li‐San, additional, Schellenberg, Gerald D., additional, Pericak‐Vance, Margaret A., additional, Haines, Jonathan L., additional, Farrer, Lindsay A., additional, and Sherva, Richard, additional

Published
2023
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19. A Genome‐Wide Search for Pleiotropy in More Than 100,000 Harmonized Longitudinal Cognitive Domain Scores

Author

Kang, Moonil, primary, Ang, Ting Fang Alvin, additional, Devine, Sherral A., additional, Sherva, Richard, additional, Mukherjee, Shubhabrata, additional, Trittschuh, Emily H., additional, Gibbons, Laura E, additional, Scollard, Phoebe, additional, Lee, Michael L., additional, Choi, Seo‐Eun, additional, Klinedinst, Brandon S, additional, Nakano, Connie, additional, Dumitrescu, Logan C, additional, Hohman, Timothy J., additional, Cuccaro, Michael L., additional, Saykin, Andrew J., additional, Kukull, Walter A., additional, Bennett, David A. A, additional, Wang, Li‐San, additional, Mayeux, Richard, additional, Haines, Jonathan L., additional, Pericak‐Vance, Margaret A., additional, Schellenberg, Gerald D., additional, Crane, Paul K, additional, Au, Rhoda, additional, Lunetta, Kathryn L., additional, Mez, Jesse B., additional, and Farrer, Lindsay A., additional

Published
2023
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21. Patterns of Gene Expression, Splicing, and Allele-Specific Expression Vary among Macular Tissues and Clinical Stages of Age-Related Macular Degeneration

Author

Shwani, Treefa, primary, Zhang, Charles, additional, Owen, Leah A., additional, Shakoor, Akbar, additional, Vitale, Albert T., additional, Lillvis, John H., additional, Barr, Julie L., additional, Cromwell, Parker, additional, Finley, Robert, additional, Husami, Nadine, additional, Au, Elizabeth, additional, Zavala, Rylee A., additional, Graves, Elijah C., additional, Zhang, Sarah X., additional, Farkas, Michael H., additional, Ammar, David A., additional, Allison, Karen M., additional, Tawfik, Amany, additional, Sherva, Richard M., additional, Li, Mingyao, additional, Stambolian, Dwight, additional, Kim, Ivana K., additional, Farrer, Lindsay A., additional, and DeAngelis, Margaret M., additional

Published
2023
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22. Transferability of a European-derived Alzheimer’s Disease Genetic Risk Score across Multi-Ancestry Populations

Author

Nicolas, Aude, primary, Grenier-Boley, Benjamin, additional, Sherva, Richard, additional, Kim, Yoontae, additional, Kikuchi, Masataka, additional, de Rojas, Itziar, additional, Dalmasso, Carolina, additional, Zhou, Xiaopu, additional, Guen, Yann Le, additional, Arboleda-Bustos, Carlos E, additional, Camargos Bicalho, Maria Aparecida, additional, Guerchet, Maëlenn, additional, van der Lee, Sven, additional, Goss, Monica, additional, Castillo, Atahualpa, additional, Bellenguez, Céline, additional, Küçükali, Fahri, additional, Satizabal Barrera, Claudia, additional, Fongang, Bernard, additional, yang, Qiong, additional, Peters, Oliver, additional, Schneider, Anja, additional, Dichgans, Martin, additional, Rujescu, Dan, additional, Scherbaum, Norbert, additional, Deckert, Jürgen, additional, Riedel-Heller, Steffi, additional, Hausner, Lucrezia, additional, Molina Porcel, Laura, additional, Düzel, Emrah, additional, Grimmer, Timo, additional, Wiltfang, Jens, additional, Heilmann-Heimbach, Stefanie, additional, Moebus, Susanne, additional, Tegos, Thomas, additional, Scarmeas, Nikolaos, additional, Dols-Icardo, Oriol, additional, Moreno, Fermin, additional, Pérez-Tur, Jordi, additional, Bullido, María J., additional, Pastor, Pau, additional, Sánchez-Valle, Raquel, additional, Álvarez, Victoria, additional, Cao, Han, additional, Ip, Nancy Y., additional, Fu, Amy K. Y., additional, Ip, Fanny C. F., additional, Olivar, Natividad, additional, Muchnik, Carolina, additional, Cuesta, Carolina, additional, Campanelli, Lorenzo, additional, Solis, Patricia, additional, Politis, Daniel Gustavo, additional, Kochen, Silvia, additional, Brusco, Luis Ignacio, additional, Boada, Mercè, additional, García-González, Pablo, additional, Puerta, Raquel, additional, Mir, Pablo, additional, Real, Luis M, additional, Piñol-Ripoll, Gerard, additional, María García-Alberca, Jose, additional, Luís Royo, Jose, additional, Rodriguez-Rodriguez, Eloy, additional, Soininen, Hilkka, additional, Heikkinen, Sami, additional, de Mendonça, Alexandre, additional, Mehrabian, Shima, additional, Traykov, Latchezar, additional, Hort, Jakub, additional, Vyhnalek, Martin, additional, Rasmussen, Katrine Laura, additional, Qvist Thomassen, Jesper, additional, Pijnenburg, Yolande A.L., additional, Holstege, Henne, additional, van Swieten, John, additional, Ramakers, Inez, additional, Verhey, Frans, additional, van der Lugt, Aad, additional, Scheltens, Philip, additional, Ortega-Rojas, Jenny, additional, Concha Mera, Ana Gabriela, additional, Mahecha, Maria F., additional, Pardo, Rodrogo, additional, Arboleda, Gonzalo, additional, Graff, Caroline, additional, Papenberg, Goran, additional, Giedraitis, Vilmantas, additional, Boland, Anne, additional, Deleuze, Jean-François, additional, Armando de Marco, Luiz, additional, Nunes de Moraes, Edgar, additional, de Viana, Bernardo, additional, Túlio Gualberto Cintra, Marco, additional, Grsiwold, Anthony, additional, Forund, Tatiana, additional, Cruchaga, Carlos, additional, Haines, Jonathan, additional, Farrer, Lindsay, additional, DeStefano, Anita, additional, Wijsman, Ellen, additional, Mayeux, Richard, additional, Pericak-Vance, Margaret, additional, Kunkle, Brian, additional, Goate, Alison, additional, Schellenberg, Gerard D., additional, Vardarajan, Badri, additional, Wang, Li-San, additional, Leung, Yuk Yee, additional, Dalgard, Clifton, additional, Nicolas, Gael, additional, Wallon, David, additional, Dufouil, Carole, additional, Pasquier, Florence, additional, Hanon, Olivier, additional, Debette, Stéphanie, additional, Grünblatt, Edna, additional, Popp, Julius, additional, Angel, Bárbara, additional, Golger, Sergio, additional, Victoria Chacon, Maria, additional, Aranguiz, Rafael, additional, Orellana, Paulina, additional, Slachevsky, Andrea, additional, Gonzalez-Billault, Christian, additional, Albala, Cecilia, additional, Fuentes, Patricio, additional, Porter, Tenielle, additional, Laws, Simon M, additional, Sachdev, Perminder, additional, Mather, Karen, additional, Hauger, Richard L., additional, Merritt, Victoria, additional, Panizzon, Matthew, additional, Zhang, Rui, additional, Gaziano, Michael, additional, Ghidoni, Roberta, additional, Galimberti, Daniela, additional, Arosio, Beatrice, additional, Mecocci, Patrizia, additional, Solfrizzi, Vincenzo, additional, Parnetti, Lucilla, additional, Squassina, Alessio, additional, Tremolizzo, Lucio, additional, Borroni, Barbara, additional, Nacmias, Benedetta, additional, Caffarra, Paolo, additional, Seripa, Davide, additional, Rainero, Innocenzo, additional, Daniele, Antonio, additional, Piras, Fabrizio, additional, Miyashita, Akinori, additional, Hara, Norikazu, additional, Ozaki, Kouichi, additional, Niida, Shumpei, additional, Williams, Julie, additional, Masullo, Carlo, additional, Amouyel, Philippe, additional, Preux, Pierre-Marie, additional, Mbelesso, Pascal, additional, Bandzouzi, Bébène, additional, Saykin, Andy, additional, Jessen, Frank, additional, Kehoe, Patrick, additional, Van Duijn, Cornelia, additional, Gim, Jungsoo, additional, Ben Salem, Nesrine, additional, Frikke-Schmidt, Ruth, additional, Cherni, Lofti, additional, Greicius, Michael D., additional, Tsolaki, Magda, additional, Sánchez-Juan, Pascual, additional, Romano Silva, Marco Aurélio, additional, Sleegers, Kristel, additional, Ingelsson, Martin, additional, Dartigues, Jean-François, additional, Seshadri, Sudha, additional, Rossi, Giacomina, additional, Morelli, Laura, additional, Hiltunen, Mikko, additional, Sims, Rebecca, additional, van der Flier, Wiesje, additional, Andreassen, Ole, additional, Arboleda, Humberto, additional, Escott-Price, Valentina, additional, Ruiz, Agustín, additional, Lee, Kun Ho, additional, Ikeuchi, Takeshi, additional, Ramirez, Alfredo, additional, Logue, Mark, additional, and Lambert, Jean-Charles, additional

Published
2023
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26. Meta‐analysis of genetic polymorphisms in granulomatosis with polyangiitis (Wegener's) reveals shared susceptibility loci with rheumatoid arthritis

Author

Chung, Sharon A, Xie, Gang, Roshandel, Delnaz, Sherva, Richard, Edberg, Jeffrey C, Kravitz, Megan, Dellaripa, Paul F, Hoffman, Gary S, Mahr, Alfred D, Seo, Philip, Specks, Ulrich, Spiera, Robert F, St.Clair, E William, Stone, John H, Plenge, Robert M, Siminovitch, Katherine A, Merkel, Peter A, and Monach, Paul A

Subjects
Biological Sciences, Biomedical and Clinical Sciences, Genetics, Epidemiology, Health Sciences, Clinical Sciences, Arthritis, Digestive Diseases, Autoimmune Disease, Clinical Research, Prevention, Lupus, Human Genome, Rheumatoid Arthritis, Inflammatory Bowel Disease, 2.1 Biological and endogenous factors, Aetiology, Inflammatory and immune system, Adolescent, Adult, Aged, Aged, 80 and over, Arthritis, Rheumatoid, Female, Genetic Loci, Genetic Predisposition to Disease, Genotype, Granulomatosis with Polyangiitis, Humans, Male, Middle Aged, Polymorphism, Genetic, Risk Factors, Immunology, Public Health and Health Services, Arthritis & Rheumatology, Clinical sciences
Abstract

ObjectiveTo examine the association of previously identified autoimmune disease susceptibility loci with granulomatosis with polyangiitis (Wegener's) (GPA), and to determine whether the genetic susceptibility profiles of other autoimmune diseases are associated with those of GPA.MethodsGenetic data from 2 cohorts were meta-analyzed. Genotypes for 168 previously identified single-nucleotide polymorphisms (SNPs) associated with susceptibility to different autoimmune diseases were ascertained in a total of 880 patients with GPA and 1,969 control subjects of European descent. Single-marker associations were identified using additive logistic regression models. Associations of multiple SNPs with GPA were assessed using genetic risk scores based on susceptibility loci for Crohn's disease, type 1 diabetes, systemic lupus erythematosus, rheumatoid arthritis (RA), celiac disease, and ulcerative colitis. Adjustment for population substructure was performed in all analyses, using ancestry-informative markers and principal components analysis.ResultsGenetic polymorphisms in CTLA4 were significantly associated with GPA in the single-marker meta-analysis (odds ratio [OR] 0.79, 95% confidence interval [95% CI] 0.70-0.89, P = 9.8 × 10(-5) ). The genetic risk score for RA susceptibility markers was significantly associated with GPA (OR 1.05 per 1-unit increase in genetic risk score, 95% CI 1.02-1.08, P = 5.1 × 10(-5) ).ConclusionRA and GPA may arise from a similar genetic predisposition. Aside from CTLA4, other loci previously found to be associated with common autoimmune diseases were not statistically significantly associated with GPA in this study.

Published
2012

27. DNA from multiple viral species is associated with Alzheimer's disease risk

Author

Tejeda, Marlene, primary, Farrell, John, additional, Zhu, Congcong, additional, Wetzler, Lee, additional, Lunetta, Kathryn L., additional, Bush, William S., additional, Martin, Eden R., additional, Wang, Li‐San, additional, Schellenberg, Gerard D., additional, Pericak‐Vance, Margaret A., additional, Haines, Jonathan L., additional, Farrer, Lindsay A., additional, and Sherva, Richard, additional

Published
2023
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28. Multi-ancestry genome-wide meta-analysis of 56,241 individuals identifiesLRRC4C, LHX5-AS1and nominates ancestry-specific lociPTPRK,GRB14, andKIAA0825as novel risk loci for Alzheimer’s disease: the Alzheimer’s Disease Genetics Consortium

Author

Rajabli, Farid, primary, Benchek, Penelope, additional, Tosto, Giuseppe, additional, Kushch, Nicholas, additional, Sha, Jin, additional, Bazemore, Katrina, additional, Zhu, Congcong, additional, Lee, Wan-Ping, additional, Haut, Jacob, additional, Hamilton-Nelson, Kara L., additional, Wheeler, Nicholas R., additional, Zhao, Yi, additional, Farrell, John J., additional, Grunin, Michelle A., additional, Leung, Yuk Yee, additional, Kuksa, Pavel P., additional, Li, Donghe, additional, Lucio da Fonseca, Eder, additional, Mez, Jesse B., additional, Palmer, Ellen L., additional, Pillai, Jagan, additional, Sherva, Richard M., additional, Song, Yeunjoo E., additional, Zhang, Xiaoling, additional, Iqbal, Taha, additional, Pathak, Omkar, additional, Valladares, Otto, additional, Kuzma, Amanda B., additional, Abner, Erin, additional, Adams, Perrie M., additional, Aguirre, Alyssa, additional, Albert, Marilyn S., additional, Albin, Roger L., additional, Allen, Mariet, additional, Alvarez, Lisa, additional, Apostolova, Liana G., additional, Arnold, Steven E., additional, Asthana, Sanjay, additional, Atwood, Craig S., additional, Ayres, Gayle, additional, Baldwin, Clinton T., additional, Barber, Robert C., additional, Barnes, Lisa L., additional, Barral, Sandra, additional, Beach, Thomas G., additional, Becker, James T., additional, Beecham, Gary W., additional, Beekly, Duane, additional, Benitez, Bruno A., additional, Bennett, David, additional, Bertelson, John, additional, Bird, Thomas D., additional, Blacker, Deborah, additional, Boeve, Bradley F., additional, Bowen, James D., additional, Boxer, Adam, additional, Brewer, James, additional, Burke, James R., additional, Burns, Jeffrey M., additional, Buxbaum, Joseph D., additional, Cairns, Nigel J., additional, Cantwell, Laura B., additional, Cao, Chuanhai, additional, Carlson, Christopher S., additional, Carlsson, Cynthia M., additional, Carney, Regina M., additional, Carrasquillo, Minerva M., additional, Chasse, Scott, additional, Chesselet, Marie-Francoise, additional, Chin, Nathaniel A., additional, Chui, Helena C., additional, Chung, Jaeyoon, additional, Craft, Suzanne, additional, Crane, Paul K., additional, Cribbs, David H., additional, Crocco, Elizabeth A., additional, Cruchaga, Carlos, additional, Cuccaro, Michael L., additional, Cullum, Munro, additional, Darby, Eveleen, additional, Davis, Barbara, additional, De Jager, Philip L., additional, DeCarli, Charles, additional, DeToledo, John, additional, Dick, Malcolm, additional, Dickson, Dennis W., additional, Dombroski, Beth A., additional, Doody, Rachelle S., additional, Duara, Ranjan, additional, Ertekin-Taner, NIlüfer, additional, Evans, Denis A., additional, Faber, Kelley M., additional, Fairchild, Thomas J., additional, Fallon, Kenneth B., additional, Fardo, David W., additional, Farlow, Martin R., additional, Fernandez-Hernandez, Victoria, additional, Ferris, Steven, additional, Foroud, Tatiana M., additional, Frosch, Matthew P., additional, Fulton-Howard, Brian, additional, Galasko, Douglas R., additional, Gamboa, Adriana, additional, Gearing, Marla, additional, Geschwind, Daniel H., additional, Ghetti, Bernardino, additional, Gilbert, John R., additional, Goate, Alison M., additional, Grabowski, Thomas J., additional, Graff-Radford, Neill R., additional, Green, Robert C., additional, Growdon, John H., additional, Hakonarson, Hakon, additional, Hall, James, additional, Hamilton, Ronald L., additional, Harari, Oscar, additional, Hardy, John, additional, Harrell, Lindy E., additional, Head, Elizabeth, additional, Henderson, Victor W., additional, Hernandez, Michelle, additional, Hohman, Timothy, additional, Honig, Lawrence S., additional, Huebinger, Ryan M., additional, Huentelman, Matthew J., additional, Hulette, Christine M., additional, Hyman, Bradley T., additional, Hynan, Linda S., additional, Ibanez, Laura, additional, Jarvik, Gail P., additional, Jayadev, Suman, additional, Jin, Lee-Way, additional, Johnson, Kim, additional, Johnson, Leigh, additional, Kamboh, M. Ilyas, additional, Karydas, Anna M., additional, Katz, Mindy J., additional, Kauwe, John S., additional, Kaye, Jeffrey A., additional, Keene, C. Dirk, additional, Khaleeq, Aisha, additional, Kim, Ronald, additional, Knebl, Janice, additional, Kowall, Neil W., additional, Kramer, Joel H., additional, Kukull, Walter A., additional, LaFerla, Frank M., additional, Lah, James J., additional, Larson, Eric B., additional, Lerner, Alan, additional, Leverenz, James B., additional, Levey, Allan I., additional, Lieberman, Andrew P., additional, Lipton, Richard B., additional, Logue, Mark, additional, Lopez, Oscar L., additional, Lunetta, Kathryn L., additional, Lyketsos, Constantine G., additional, Mains, Douglas, additional, Margaret, Flanagan E., additional, Marson, Daniel C., additional, Martin, Eden R R., additional, Martiniuk, Frank, additional, Mash, Deborah C., additional, Masliah, Eliezer, additional, Massman, Paul, additional, Masurkar, Arjun, additional, McCormick, Wayne C., additional, McCurry, Susan M., additional, McDavid, Andrew N., additional, McDonough, Stefan, additional, McKee, Ann C., additional, Mesulam, Marsel, additional, Miller, Bruce L., additional, Miller, Carol A., additional, Miller, Joshua W., additional, Montine, Thomas J., additional, Monuki, Edwin S., additional, Morris, John C., additional, Mukherjee, Shubhabrata, additional, Myers, Amanda J., additional, Nguyen, Trung, additional, O’Bryant, Sid, additional, Olichney, John M., additional, Ory, Marcia, additional, Palmer, Raymond, additional, Parisi, Joseph E., additional, Paulson, Henry L., additional, Pavlik, Valory, additional, Paydarfar, David, additional, Perez, Victoria, additional, Peskind, Elaine, additional, Petersen, Ronald C., additional, Pierce, Aimee, additional, Polk, Marsha, additional, Poon, Wayne W., additional, Potter, Huntington, additional, Qu, Liming, additional, Quiceno, Mary, additional, Quinn, Joseph F., additional, Raj, Ashok, additional, Raskind, Murray, additional, Reiman, Eric M., additional, Reisberg, Barry, additional, Reisch, Joan S., additional, Ringman, John M., additional, Roberson, Erik D., additional, Rodriguear, Monica, additional, Rogaeva, Ekaterina, additional, Rosen, Howard J., additional, Rosenberg, Roger N., additional, Royall, Donald R., additional, Sager, Mark A., additional, Sano, Mary, additional, Saykin, Andrew J., additional, Schneider, Julie A., additional, Schneider, Lon S., additional, Seeley, William W., additional, Slifer, Susan H., additional, Small, Scott, additional, Smith, Amanda G., additional, Smith, Janet P., additional, Sonnen, Joshua A., additional, Spina, Salvatore, additional, St George-Hyslop, Peter, additional, Stern, Robert A., additional, Stevens, Alan B., additional, Strittmatter, Stephen M., additional, Sultzer, David, additional, Swerdlow, Russell H., additional, Tanzi, Rudolph E., additional, Tilson, Jeffrey L., additional, Trojanowski, John Q., additional, Troncoso, Juan C., additional, Tsuang, Debby W., additional, Van Deerlin, Vivianna M., additional, van Eldik, Linda J., additional, Vance, Jeffery M., additional, Vardarajan, Badri N., additional, Vassar, Robert, additional, Vinters, Harry V., additional, Vonsattel, Jean-Paul, additional, Weintraub, Sandra, additional, Welsh-Bohmer, Kathleen A., additional, Whitehead, Patrice L., additional, Wijsman, Ellen M., additional, Wilhelmsen, Kirk C., additional, Williams, Benjamin, additional, Williamson, Jennifer, additional, Wilms, Henrik, additional, Wingo, Thomas S., additional, Wisniewski, Thomas, additional, Woltjer, Randall L., additional, Woon, Martin, additional, Wright, Clinton B., additional, Wu, Chuang-Kuo, additional, Younkin, Steven G., additional, Yu, Chang-En, additional, Yu, Lei, additional, Zhu, Xiongwei, additional, Kunkle, Brian W., additional, Bush, William S., additional, Wang, Li-San, additional, Farrer, Lindsay A., additional, Haines, Jonathan L., additional, Mayeux, Richard, additional, Pericak-Vance, Margaret A., additional, Schellenberg, Gerard D., additional, Jun, Gyungah R., additional, Reitz, Christiane, additional, and Naj, Adam C., additional

Published
2023
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30. Transethnic genome-wide scan identifies novel Alzheimer's disease loci

Author

Adams, Perrie M., Albert, Marilyn S., Albin, Roger L., Apostolova, Liana G., Arnold, Steven E., Asthana, Sanjay, Atwood, Craig S., Barmada, Michjael M., Barnes, Lisa L., Beach, Thomas G., Becker, James T., Bigio, Eileen H., Bird, Thomas D., Blacker, Deborah, Boeve, Bradley F., Bowen, James D., Boxer, Adam, Burke, James R., Cairns, Nigel J., Cao, Chuanhai, Carlson, Chris S., Carlsson, Cynthia M., Carney, Regina M., Carrasquillo, Minerva M., Carroll, Steven L., Chui, Helena C., Clark, David G., Corneveaux, Jason, Cribbs, David H., Crocco, Elizabeth A., Cruchaga, Carlos, De Jager, Philip L., DeCarli, Charles, DeKosky, Steven T., Demirci, F. Yesim, Dick, Malcolm, Dickson, Dennis W., Doody, Rachelle S., Duara, Ranjan, Ertekin-Taner, Nilufer, Faber, Kelley M., Fairchild, Thomas J., Fallon, Kenneth B., Farlow, Martin R., Ferris, Steven, Frosch, Matthew P., Galasko, Douglas R., Gearing, Marla, Geschwind, Daniel H., Ghetti, Bernardino, Gilbert, John R., Glass, Jonathan D., Graff-Radford, Neill R., Green, Robert C., Growdon, John H., Hakonarson, Hakon, Hamilton, Ronald L., Hardy, John, Harrell, Lindy E., Head, Elizabeth, Honig, Lawrence S., Huebinger, Ryan M., Huentelman, Matthew J., Hulette, Christine M., Hyman, Bradley T., Jarvik, Gail P., Jicha, Gregory A., Jin, Lee-Way, Karydas, Anna, Kauwe, John S.K., Kaye, Jeffrey A., Kim, Ronald, Koo, Edward H., Kowall, Neil W., Kramer, Joel H., LaFerla, Frank M., Lah, James J., Leverenz, James B., Levey, Allan I., Li, Ge, Lieberman, Andrew P., Lin, Chiao-Feng, Lopez, Oscar L., Lyketsos, Constantine G., Mack, Wendy J., Marson, Daniel C., Martiniuk, Frank, Mash, Deborah C., Masliah, Eliezer, McCormick, Wayne C., McCurry, Susan M., McDavid, Andrew N., McKee, Ann C., Mesulam, Marsel, Miller, Bruce L., Miller, Carol A., Miller, Joshua W., Morris, John C., Mukherjee, Shubhabrata, Murrell, Jill R., Myers, Amanda J., O'Bryant, Sid, Olichney, John M., Pankratz, Vernon S., Parisi, Joseph E., Partch, Amanda, Paulson, Henry L., Perry, William, Peskind, Elaine, Petersen, Ronald C., Pierce, Aimee, Poon, Wayne W., Potter, Huntington, Quinn, Joseph F., Raj, Ashok, Raskind, Murray, Reisberg, Barry, Reisch, Joan S., Reitz, Christiane, Ringman, John M., Roberson, Erik D., Rogaeva, Ekaterina, Rosen, Howard J., Rosenberg, Roger N., Royall, Donald R., Sager, Mark A., Sano, Mary, Saykin, Andrew J., Schneider, Julie A., Schneider, Lon S., Seeley, William W., Smith, Amanda G., Sonnen, Joshua A., Spina, Salvatore, Stern, Robert A., Tanzi, Rudolph E., Thornton-Wells, Tricia A., Trojanowski, John Q., Troncoso, Juan C., Tsuang, Debby W., Van Deerlin, Vivianna M., Van Eldik, Linda J., Vardarajan, Badri N., Vinters, Harry V., Vonsattel, Jean Paul, Weintraub, Sandra, Welsh-Bohmer, Kathleen A., Williamson, Jennifer, Wishnek, Sarah, Woltjer, Randall L., Wright, Clinton B., Wu, Chuang-Kuo, Yu, Chang-En, Yu, Lei, Zhang, Xiaoling, Jun, Gyungah R., Chung, Jaeyoon, Mez, Jesse, Barber, Robert, Beecham, Gary W., Bennett, David A., Buxbaum, Joseph D., Byrd, Goldie S., Crane, Paul K., De Jager, Philip, Evans, Denis, Fallin, M. Danielle, Foroud, Tatiana M., Friedland, Robert P., Goate, Alison M., Hendrie, Hugh, Hall, Kathleen S., Hamilton-Nelson, Kara L., Inzelberg, Rivka, Kamboh, M. Ilyas, Kukull, Walter A., Kunkle, Brian W., Kuwano, Ryozo, Larson, Eric B., Logue, Mark W., Manly, Jennifer J., Martin, Eden R., Montine, Thomas J., Naj, Adam, Reiman, Eric M., Sherva, Richard, St. George-Hyslop, Peter H., Thornton, Timothy, Younkin, Steven G., Wang, Li-San, Wendlund, Jens R., Winslow, Ashley R., Haines, Jonathan, Mayeux, Richard, Pericak-Vance, Margaret A., Schellenberg, Gerard, Lunetta, Kathryn L., and Farrer, Lindsay A.

Published
2017
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31. Two novel loci, COBL and SLC10A2, for Alzheimer's disease in African Americans

Author

Mez, Jesse, Chung, Jaeyoon, Jun, Gyungah, Kriegel, Joshua, Bourlas, Alexandra P., Sherva, Richard, Logue, Mark W., Barnes, Lisa L., Bennett, David A., Buxbaum, Joseph D., Byrd, Goldie S., Crane, Paul K., Ertekin-Taner, Nilüfer, Evans, Denis, Fallin, M. Daniele, Foroud, Tatiana, Goate, Alison, Graff-Radford, Neill R., Hall, Kathleen S., Kamboh, M. Ilyas, Kukull, Walter A., Larson, Eric B., Manly, Jennifer J., Haines, Jonathan L., Mayeux, Richard, Pericak-Vance, Margaret A., Schellenberg, Gerard D., Lunetta, Kathryn L., and Farrer, Lindsay A.

Published
2017
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32. Expanding the genetic architecture of nicotine dependence and its shared genetics with multiple traits

Author

Quach, Bryan C., Bray, Michael J., Gaddis, Nathan C., Liu, Mengzhen, Palviainen, Teemu, Minica, Camelia C., Zellers, Stephanie, Sherva, Richard, Aliev, Fazil, Nothnagel, Michael, Young, Kendra A., Marks, Jesse A., Young, Hannah, Carnes, Megan U., Guo, Yuelong, Waldrop, Alex, Sey, Nancy Y. A., Landi, Maria T., McNeil, Daniel W., Drichel, Dmitriy, Farrer, Lindsay A., Markunas, Christina A., Vink, Jacqueline M., Hottenga, Jouke-Jan, Iacono, William G., Kranzler, Henry R., Saccone, Nancy L., Neale, Michael C., Madden, Pamela, Rietschel, Marcella, Marazita, Mary L., McGue, Matthew, Won, Hyejung, Winterer, Georg, Grucza, Richard, Dick, Danielle M., Gelernter, Joel, Caporaso, Neil E., Baker, Timothy B., Boomsma, Dorret I., Kaprio, Jaakko, Hokanson, John E., Vrieze, Scott, Bierut, Laura J., Johnson, Eric O., and Hancock, Dana B.

Published
2020
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33. DNA from multiple viral species is associated with Alzheimer's disease risk.

Author

Tejeda, Marlene, Farrell, John, Zhu, Congcong, Wetzler, Lee, Lunetta, Kathryn L., Bush, William S., Martin, Eden R., Wang, Li‐San, Schellenberg, Gerard D., Pericak‐Vance, Margaret A., Haines, Jonathan L., Farrer, Lindsay A., and Sherva, Richard

Abstract

INTRODUCTION: Multiple infectious agents, including viruses, bacteria, fungi, and protozoa, have been linked to Alzheimer's disease (AD) risk by independent lines of evidence. We explored this association by comparing the frequencies of viral species identified in a large sample of AD cases and controls. METHODS: DNA sequence reads that did not align to the human genome in sequences were mapped to viral reference sequences, quantified, and then were tested for association with AD in whole exome sequences (WES) and whole genome sequences (WGS) datasets. RESULTS: Several viruses were significant predictors of AD according to the machine learning classifiers. Subsequent regression analyses showed that herpes simplex type 1 (HSV‐1) (odds ratio [OR] = 3.71, p = 8.03 × 10−4) and human papillomavirus 71 (HPV‐71; OR = 3.56, p = 0.02), were significantly associated with AD after Bonferroni correction. The phylogenetic‐related cluster of Herpesviridae was significantly associated with AD in several strata of the data (p < 0.01). DISCUSSION: Our results support the hypothesis that viral infection, especially HSV‐1, is associated with AD risk. [ABSTRACT FROM AUTHOR]

Published
2024
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35. Heritable Risk and Protective Genetic Components of Glaucoma Medication Non-Adherence

Author

Barr, Julie L., primary, Feehan, Michael, additional, Tak, Casey, additional, Owen, Leah A., additional, Finley, Robert C., additional, Cromwell, Parker A., additional, Lillvis, John H., additional, Hicks, Patrice M., additional, Au, Elizabeth, additional, Farkas, Michael H., additional, Weiner, Asher, additional, Reynolds, Andrew L., additional, Sieminski, Sandra F., additional, Sherva, Richard M., additional, Munger, Mark A., additional, Brilliant, Murray H., additional, and DeAngelis, Margaret M., additional

Published
2023
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37. Association of African Ancestry–Specific APOE Missense Variant R145C With Risk of Alzheimer Disease

Author

Le Guen, Yann, primary, Raulin, Ana-Caroline, additional, Logue, Mark W., additional, Sherva, Richard, additional, Belloy, Michael E., additional, Eger, Sarah J., additional, Chen, Annabel, additional, Kennedy, Gabriel, additional, Kuchenbecker, Lindsey, additional, O’Leary, Justin P., additional, Zhang, Rui, additional, Merritt, Victoria C., additional, Panizzon, Matthew S., additional, Hauger, Richard L., additional, Gaziano, J. Michael, additional, Bu, Guojun, additional, Thornton, Timothy A., additional, Farrer, Lindsay A., additional, Napolioni, Valerio, additional, He, Zihuai, additional, and Greicius, Michael D., additional

Published
2023
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38. Genetic Risk for Alzheimer Disease and Plasma Tau Are Associated With Accelerated Parietal Cortex Thickness Change in Middle-Aged Adults

Author

Hayes, Jasmeet Pannu, primary, Pierce, Meghan E., additional, Brown, Emma, additional, Salat, David, additional, Logue, Mark W., additional, Constantinescu, Julie, additional, Valerio, Kate, additional, Miller, Mark W., additional, Sherva, Richard, additional, Huber, Bertrand Russell, additional, Milberg, William, additional, and McGlinchey, Regina, additional

Published
2023
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40. African ancestry GWAS of dementia in a large military cohort identifies significant risk loci

Author

Sherva, Richard, primary, Zhang, Rui, additional, Sahelijo, Nathan, additional, Jun, Gyungah, additional, Anglin, Tori, additional, Chanfreau, Catherine, additional, Cho, Kelly, additional, Fonda, Jennifer R., additional, Gaziano, J. Michael, additional, Harrington, Kelly M., additional, Ho, Yuk-Lam, additional, Kremen, William S., additional, Litkowski, Elizabeth, additional, Lynch, Julie, additional, Neale, Zoe, additional, Roussos, Panos, additional, Marra, David, additional, Mez, Jesse, additional, Miller, Mark W., additional, Salat, David H., additional, Tsuang, Debby, additional, Wolf, Erika, additional, Zeng, Qing, additional, Panizzon, Matthew S., additional, Merritt, Victoria C., additional, Farrer, Lindsay A., additional, Hauger, Richard L., additional, and Logue, Mark W., additional

Published
2022
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41. Patterns of gene expression and allele-specific expression vary among macular tissues and clinical stages of Age-related Macular Degeneration

Author

Zhang, Charles, primary, Barr, Julie L, additional, Owen, Leah A., additional, Shakoor, Akbar, additional, Vitale, Albert T, additional, Lillvis, John H, additional, Husami, Nadine, additional, Cromwell, Parker, additional, Finley, Robert, additional, Au, Elizabeth, additional, Haider, Neena B, additional, Zavala, Rylee A, additional, Graves, Elijah C, additional, Li, Mingyao, additional, Tawfik, Amany, additional, Zhang, Sarah X, additional, Stambolian, Dwight, additional, Farkas, Michael H, additional, Kim, Ivana K, additional, Sherva, Richard M, additional, Farrer, Lindsay, additional, and DeAngelis, Margaret M, additional

Published
2022
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43. Multiple Viruses Detected in Human DNA are Associated with Alzheimer Disease Risk

Author

Tejeda, Marlene, primary, Farrell, John, additional, Zhu, Congcong, additional, Wetzler, Lee, additional, Lunetta, Kathryn L., additional, Bush, William S., additional, Martin, Eden R, additional, Wang, Li‐San, additional, Schellenberg, Gerard D., additional, Pericak‐Vance, Margaret A., additional, Haines, Jonathan L., additional, Farrer, Lindsay A., additional, and Sherva, Richard, additional

Published
2022
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44. A Million Veteran Program GWAS of Alzheimer’s Disease and Related Dementias in African Americans Identifies Multiple Genome‐Wide Significant Dementia Risk Loci

Author

Sherva, Richard, primary, Zhang, Rui, additional, Farrer, Lindsay A., additional, Sahelijo, Nathan, additional, Jun, Gyungah R, additional, Anglin, Tori, additional, Chanfreau, Catherine, additional, Cho, Kelly, additional, Fonda, Jennifer, additional, Gaziano, J. Michael, additional, Harrington, Kelly, additional, Ho, Yuk‐Lam, additional, Kremen, William S., additional, Litkowski, Elizabeth M, additional, Lynch, Julie, additional, Neale, Zoe, additional, Roussos, Panos, additional, Marra, David E, additional, Mez, Jesse B., additional, Miller, Mark, additional, Salat, David H, additional, Tsuang, Debby W, additional, Wolf, Erika, additional, Zeng, Qing, additional, Panizzon, Matthew S., additional, Merritt, Victoria, additional, Hauger, Richard L., additional, and Logue, Mark W., additional

Published
2022
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45. S100A10 identified in a genome-wide gene x cannabis dependence interaction analysis of risky sexual behaviours

Author

Polimanti, Renato, Meda, Shashwath A., Pearlson, Godfrey D., Zhao, Hongyu, Sherva, Richard, Farrer, Lindsay A., Kranzler, Henry R., and Gelernter, Joel

Subjects
Risk taking -- Genetic aspects -- Health aspects, Marijuana -- Health aspects -- Psychological aspects, Sexual behavior -- Genetic aspects -- Health aspects, Health, Psychology and mental health
Abstract

Background: We conducted a genome-wide gene x environment interaction analysis to identify genetic variants that interact with cannabis dependence (CaD) in influencing risky sexual behaviours (RSB). Methods: Our sample included cannabis-exposed and sexually experienced African-American and European-American participants. A DSM-IV CaD diagnosis and RSB were evaluated using the SemiStructured Assessment for Drug Dependence and Alcoholism. We analyzed RSBs as a score that takes into account experiences of unprotected sex and multiple sexual partners. Results: A total of 3350 people participated in our study; 43% had a CaD diagnosis, 56% were African-American and 33% were women. We identified a genome-wide significant locus in African-American participants (S100A10 rs72993629, p = 2.73 x [10.sup.-8]) and a potential transpopulation signal in women (CLTC rs12944716, p = 5.27 x [10.sup.-8]). A resting-state fMRI follow-up analysis of S100A10 rs72993629 conducted in an independent cohort showed 2 significant associations: reduced power of the left paracentral lobule in amplitude of low frequency fluctuations (ALFF) analysis (p = 7.8 x [10.sup.-3]) and reduced power of the right pallidum in fractional ALFF analysis (p = 4.6 x [10.sup.-3]). The activity of these brain regions is known to be involved in sexual functions and behaviours. The S100A10 result functionally recapitulated our S100B finding observed in our previous genome-wide association study of CaD. The probability of identifying 2 S100 genes in 2 independent genome-wide investigations by chance is approximately 1 in 1.1 million. Limitations: We were not able to identify any African-American cohort with appropriate sample size, and phenotypic assessment is available to replicate our findings. Conclusion: The S100A10 and S100B genes, which are located on different chromosomes, encode specialized calcium-binding proteins. These data support a role for calcium homeostasis in individuals with CaD and its induced behaviours., Introduction Cannabis is the most widely used illicit drug worldwide, and in developed countries the number of cannabis users is rapidly increasing as a consequence of decriminalization/ legalization and decreased [...]

Published
2017
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46. A novel principal component based method for identifying differentially methylated regions in Illumina Infinium MethylationEPIC BeadChip data

Author

Zheng, Yuanchao, Lunetta, Kathryn L., Liu, Chunyu, Smith, Alicia K., Sherva, Richard, Miller, Mark W., and Logue, Mark W.

Subjects
Cancer Research, Molecular Biology
Abstract

Differentially methylated regions (DMRs) are genomic regions with methylation patterns across multiple CpG sites that are associated with a phenotype. In this study, we proposed a Principal Component (PC) based DMR analysis method for use with data generated using the Illumina Infinium MethylationEPIC BeadChip (EPIC) array. We obtained methylation residuals by regressing the M-values of CpGs within a region on covariates, extracted PCs of the residuals, and then combined association information across PCs to obtain regional significance. Simulation-based genome-wide false positive (GFP) rates and true positive rates were estimated under a variety of conditions before determining the final version of our method, which we have named DMRPC. Then, DMRPC and another DMR method, coMethDMR, were used to perform epigenome-wide analyses of several phenotypes known to have multiple associated methylation loci (age, sex, and smoking) in a discovery and a replication cohort. Among regions that were analysed by both methods, DMRPC identified 50% more genome-wide significant age-associated DMRs than coMethDMR. The replication rate for the loci that were identified by only DMRPC was higher than the rate for those that were identified by only coMethDMR (90% for DMRPC vs. 76% for coMethDMR). Furthermore, DMRPC identified replicable associations in regions of moderate between-CpG correlation which are typically not analysed by coMethDMR. For the analyses of sex and smoking, the advantage of DMRPC was less clear. In conclusion, DMRPC is a new powerful DMR discovery tool that retains power in genomic regions with moderate correlation across CpGs.

Published
2023
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49. Alzheimer's disease and related dementias among aging veterans: Examining gene‐by‐environment interactions with post‐traumatic stress disorder and traumatic brain injury.

Author

Logue, Mark W., Miller, Mark W., Sherva, Richard, Zhang, Rui, Harrington, Kelly M., Fonda, Jennifer R., Merritt, Victoria C., Panizzon, Matthew S., Hauger, Richard L., Wolf, Erika J., Neale, Zoe, and Gaziano, J. Michael

Abstract

Introduction: Post‐traumatic stress disorder (PTSD) and traumatic brain injury (TBI) confer risk for Alzheimer's disease and related dementias (ADRD). Methods: This study from the Million Veteran Program (MVP) evaluated the impact of apolipoprotein E (APOE) ε4, PTSD, and TBI on ADRD prevalence in veteran cohorts of European ancestry (EA; n = 11,112 ADRD cases, 170,361 controls) and African ancestry (AA; n = 1443 ADRD cases, 16,191 controls). Additive‐scale interactions were estimated using the relative excess risk due to interaction (RERI) statistic. Results: PTSD, TBI, and APOE ε4 showed strong main‐effect associations with ADRD. RERI analysis revealed significant additive APOE ε4 interactions with PTSD and TBI in the EA cohort and TBI in the AA cohort. These additive interactions indicate that ADRD prevalence associated with PTSD and TBI increased with the number of inherited APOE ε4 alleles. Discussion: PTSD and TBI history will be an important part of interpreting the results of ADRD genetic testing and doing accurate ADRD risk assessment. [ABSTRACT FROM AUTHOR]

Published
2023
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