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https://www.readbyqxmd.com/read/29771307/assessment-of-rosacea-symptom-severity-by-genome-wide-association-study-and-expression-analysis-highlights-immuno-inflammatory-and-skin-pigmentation-genes
#1
Jennifer L Aponte, Mathias N Chiano, Laura M Yerges-Armstrong, David A Hinds, Chao Tian, Akansha Gupta, Cong Guo, Dana J Fraser, Johannes M Freudenberg, Deepak K Rajpal, Margaret G Ehm, Dawn M Waterworth
Rosacea is a common, chronic skin disease of variable severity with limited treatment options. The cause of rosacea is unknown, but it is believed to be due to a combination of hereditary and environmental factors. Little is known about the genetics of the disease. We performed a genome-wide association study (GWAS) of rosacea symptom severity with data from 73,265 research participants of European ancestry from the 23andMe customer base. Seven loci had variants associated with rosacea at the genome-wide significance level (p≤5 × 10-8)...
May 16, 2018: Human Molecular Genetics
https://www.readbyqxmd.com/read/29752479/publisher-correction-genome-wide-association-study-of-delay-discounting-in-23-217-adult-research-participants-of-european-ancestry
#2
Sandra Sanchez-Roige, Pierre Fontanillas, Sarah L Elson, Anita Pandit, Ellen M Schmidt, Johanna R Foerster, Gonçalo R Abecasis, Joshua C Gray, Harriet de Wit, Lea K Davis, James MacKillop, Abraham A Palmer
In the version of this article initially published, the consortium authorship was not presented correctly. The 23andMe Research Team was listed as the last author, rather than the fourth, and a line directing readers to the Supplementary Note for a list of members did appear but was not directly associated with the consortium name. Also, the Supplementary Note description stated that both member names and affiliations were included; in fact, only names are given. Finally, the URL for S-PrediXcan was given in the Methods as https://github...
May 11, 2018: Nature Neuroscience
https://www.readbyqxmd.com/read/29731251/common-variant-burden-contributes-to-the-familial-aggregation-of-migraine-in-1-589-families
#3
Padhraig Gormley, Mitja I Kurki, Marjo Eveliina Hiekkala, Kumar Veerapen, Paavo Häppölä, Adele A Mitchell, Dennis Lal, Priit Palta, Ida Surakka, Mari Anneli Kaunisto, Eija Hämäläinen, Salli Vepsäläinen, Hannele Havanka, Hanna Harno, Matti Ilmavirta, Markku Nissilä, Erkki Säkö, Marja-Liisa Sumelahti, Jarmo Liukkonen, Matti Sillanpää, Liisa Metsähonkala, Seppo Koskinen, Terho Lehtimäki, Olli Raitakari, Minna Männikkö, Caroline Ran, Andrea Carmine Belin, Pekka Jousilahti, Verneri Anttila, Veikko Salomaa, Ville Artto, Markus Färkkilä, Heiko Runz, Mark J Daly, Benjamin M Neale, Samuli Ripatti, Mikko Kallela, Maija Wessman, Aarno Palotie
Complex traits, including migraine, often aggregate in families, but the underlying genetic architecture behind this is not well understood. The aggregation could be explained by rare, penetrant variants that segregate according to Mendelian inheritance or by the sufficient polygenic accumulation of common variants, each with an individually small effect, or a combination of the two hypotheses. In 8,319 individuals across 1,589 migraine families, we calculated migraine polygenic risk scores (PRS) and found a significantly higher common variant burden in familial cases (n = 5,317, OR = 1...
April 27, 2018: Neuron
https://www.readbyqxmd.com/read/29728651/common-variants-on-6q16-2-12q24-31-and-16p13-3-are-associated-with-major-depressive-disorder
#4
Xiaoyan Li, Zhenwu Luo, Chunjie Gu, Lynsey S Hall, Andrew M McIntosh, Yanni Zeng, David J Porteous, Caroline Hayward, Ming Li, Yong-Gang Yao, Chen Zhang, Xiong-Jian Luo
Accumulating evidence suggests that genetic factors have a role in major depressive disorder (MDD). However, only limited MDD risk loci have been identified so far. Here we perform a meta-analysis (a total of 90,150 MDD cases and 246,603 controls) through combing three genome-wide association studies of MDD, including 23andMe (cases were self-reported with a clinical diagnosis or treatment of depression), CONVERGE (cases were diagnosed using the Composite International Diagnostic Interview) and PGC (cases were diagnosed using direct structured diagnostic interview (by trained interviewers) or clinician-administered DSM-IV checklists)...
April 27, 2018: Neuropsychopharmacology: Official Publication of the American College of Neuropsychopharmacology
https://www.readbyqxmd.com/read/29700475/genome-wide-association-analyses-identify-44-risk-variants-and-refine-the-genetic-architecture-of-major-depression
#5
Naomi R Wray, Stephan Ripke, Manuel Mattheisen, Maciej Trzaskowski, Enda M Byrne, Abdel Abdellaoui, Mark J Adams, Esben Agerbo, Tracy M Air, Till M F Andlauer, Silviu-Alin Bacanu, Marie Bækvad-Hansen, Aartjan F T Beekman, Tim B Bigdeli, Elisabeth B Binder, Douglas R H Blackwood, Julien Bryois, Henriette N Buttenschøn, Jonas Bybjerg-Grauholm, Na Cai, Enrique Castelao, Jane Hvarregaard Christensen, Toni-Kim Clarke, Jonathan I R Coleman, Lucía Colodro-Conde, Baptiste Couvy-Duchesne, Nick Craddock, Gregory E Crawford, Cheynna A Crowley, Hassan S Dashti, Gail Davies, Ian J Deary, Franziska Degenhardt, Eske M Derks, Nese Direk, Conor V Dolan, Erin C Dunn, Thalia C Eley, Nicholas Eriksson, Valentina Escott-Price, Farnush Hassan Farhadi Kiadeh, Hilary K Finucane, Andreas J Forstner, Josef Frank, Héléna A Gaspar, Michael Gill, Paola Giusti-Rodríguez, Fernando S Goes, Scott D Gordon, Jakob Grove, Lynsey S Hall, Eilis Hannon, Christine Søholm Hansen, Thomas F Hansen, Stefan Herms, Ian B Hickie, Per Hoffmann, Georg Homuth, Carsten Horn, Jouke-Jan Hottenga, David M Hougaard, Ming Hu, Craig L Hyde, Marcus Ising, Rick Jansen, Fulai Jin, Eric Jorgenson, James A Knowles, Isaac S Kohane, Julia Kraft, Warren W Kretzschmar, Jesper Krogh, Zoltán Kutalik, Jacqueline M Lane, Yihan Li, Yun Li, Penelope A Lind, Xiaoxiao Liu, Leina Lu, Donald J MacIntyre, Dean F MacKinnon, Robert M Maier, Wolfgang Maier, Jonathan Marchini, Hamdi Mbarek, Patrick McGrath, Peter McGuffin, Sarah E Medland, Divya Mehta, Christel M Middeldorp, Evelin Mihailov, Yuri Milaneschi, Lili Milani, Jonathan Mill, Francis M Mondimore, Grant W Montgomery, Sara Mostafavi, Niamh Mullins, Matthias Nauck, Bernard Ng, Michel G Nivard, Dale R Nyholt, Paul F O'Reilly, Hogni Oskarsson, Michael J Owen, Jodie N Painter, Carsten Bøcker Pedersen, Marianne Giørtz Pedersen, Roseann E Peterson, Erik Pettersson, Wouter J Peyrot, Giorgio Pistis, Danielle Posthuma, Shaun M Purcell, Jorge A Quiroz, Per Qvist, John P Rice, Brien P Riley, Margarita Rivera, Saira Saeed Mirza, Richa Saxena, Robert Schoevers, Eva C Schulte, Ling Shen, Jianxin Shi, Stanley I Shyn, Engilbert Sigurdsson, Grant B C Sinnamon, Johannes H Smit, Daniel J Smith, Hreinn Stefansson, Stacy Steinberg, Craig A Stockmeier, Fabian Streit, Jana Strohmaier, Katherine E Tansey, Henning Teismann, Alexander Teumer, Wesley Thompson, Pippa A Thomson, Thorgeir E Thorgeirsson, Chao Tian, Matthew Traylor, Jens Treutlein, Vassily Trubetskoy, André G Uitterlinden, Daniel Umbricht, Sandra Van der Auwera, Albert M van Hemert, Alexander Viktorin, Peter M Visscher, Yunpeng Wang, Bradley T Webb, Shantel Marie Weinsheimer, Jürgen Wellmann, Gonneke Willemsen, Stephanie H Witt, Yang Wu, Hualin S Xi, Jian Yang, Futao Zhang, Volker Arolt, Bernhard T Baune, Klaus Berger, Dorret I Boomsma, Sven Cichon, Udo Dannlowski, E C J de Geus, J Raymond DePaulo, Enrico Domenici, Katharina Domschke, Tõnu Esko, Hans J Grabe, Steven P Hamilton, Caroline Hayward, Andrew C Heath, David A Hinds, Kenneth S Kendler, Stefan Kloiber, Glyn Lewis, Qingqin S Li, Susanne Lucae, Pamela F A Madden, Patrik K Magnusson, Nicholas G Martin, Andrew M McIntosh, Andres Metspalu, Ole Mors, Preben Bo Mortensen, Bertram Müller-Myhsok, Merete Nordentoft, Markus M Nöthen, Michael C O'Donovan, Sara A Paciga, Nancy L Pedersen, Brenda W J H Penninx, Roy H Perlis, David J Porteous, James B Potash, Martin Preisig, Marcella Rietschel, Catherine Schaefer, Thomas G Schulze, Jordan W Smoller, Kari Stefansson, Henning Tiemeier, Rudolf Uher, Henry Völzke, Myrna M Weissman, Thomas Werge, Ashley R Winslow, Cathryn M Lewis, Douglas F Levinson, Gerome Breen, Anders D Børglum, Patrick F Sullivan
Major depressive disorder (MDD) is a common illness accompanied by considerable morbidity, mortality, costs, and heightened risk of suicide. We conducted a genome-wide association meta-analysis based in 135,458 cases and 344,901 controls and identified 44 independent and significant loci. The genetic findings were associated with clinical features of major depression and implicated brain regions exhibiting anatomical differences in cases. Targets of antidepressant medications and genes involved in gene splicing were enriched for smaller association signal...
April 26, 2018: Nature Genetics
https://www.readbyqxmd.com/read/29679657/eleven-loci-with-new-reproducible-genetic-associations-with-allergic-disease-risk
#6
Manuel Ar Ferreira, Judith M Vonk, Hansjörg Baurecht, Ingo Marenholz, Chao Tian, Joshua D Hoffman, Quinta Helmer, Annika Tillander, Vilhelmina Ullemar, Yi Lu, Franz Rüschendorf, David A Hinds, Norbert Hübner, Stephan Weidinger, Patrik Ke Magnusson, Eric Jorgenson, Young-Ae Lee, Dorret I Boomsma, Robert Karlsson, Catarina Almqvist, Gerard H Koppelman, Lavinia Paternoster
BACKGROUND: A recent genome-wide association study (GWAS) identified 99 loci that contain genetic risk variants shared between asthma, hay fever and eczema. Many more risk loci shared between these common allergic diseases remain to be discovered, which could point to new therapeutic opportunities. OBJECTIVE: To identify novel risk loci shared between asthma, hay fever and eczema by applying a gene-based test of association to results from a published GWAS that included data from 360,838 individuals...
April 18, 2018: Journal of Allergy and Clinical Immunology
https://www.readbyqxmd.com/read/29662059/genome-wide-association-study-of-depression-phenotypes-in-uk-biobank-identifies-variants-in-excitatory-synaptic-pathways
#7
David M Howard, Mark J Adams, Masoud Shirali, Toni-Kim Clarke, Riccardo E Marioni, Gail Davies, Jonathan R I Coleman, Clara Alloza, Xueyi Shen, Miruna C Barbu, Eleanor M Wigmore, Jude Gibson, Saskia P Hagenaars, Cathryn M Lewis, Joey Ward, Daniel J Smith, Patrick F Sullivan, Chris S Haley, Gerome Breen, Ian J Deary, Andrew M McIntosh
Depression is a polygenic trait that causes extensive periods of disability. Previous genetic studies have identified common risk variants which have progressively increased in number with increasing sample sizes of the respective studies. Here, we conduct a genome-wide association study in 322,580 UK Biobank participants for three depression-related phenotypes: broad depression, probable major depressive disorder (MDD), and International Classification of Diseases (ICD, version 9 or 10)-coded MDD. We identify 17 independent loci that are significantly associated (P < 5 × 10-8 ) across the three phenotypes...
April 16, 2018: Nature Communications
https://www.readbyqxmd.com/read/29580869/inverse-relationship-between-vitiligo-related-genes-and-skin-cancer-risk
#8
Wenting Wu, Christopher I Amos, Jeffrey E Lee, Qingyi Wei, Kavita Y Sarin, Jiali Han
No abstract text is available yet for this article.
March 23, 2018: Journal of Investigative Dermatology
https://www.readbyqxmd.com/read/29563502/placenta-and-appetite-genes-gdf15-and-igfbp7-are-associated-with-hyperemesis-gravidarum
#9
Marlena S Fejzo, Olga V Sazonova, J Fah Sathirapongsasuti, Ingileif B Hallgrímsdóttir, Vladimir Vacic, Kimber W MacGibbon, Frederic P Schoenberg, Nicholas Mancuso, Dennis J Slamon, Patrick M Mullin
Hyperemesis gravidarum (HG), severe nausea and vomiting of pregnancy, occurs in 0.3-2% of pregnancies and is associated with maternal and fetal morbidity. The cause of HG remains unknown, but familial aggregation and results of twin studies suggest that understanding the genetic contribution is essential for comprehending the disease etiology. Here, we conduct a genome-wide association study (GWAS) for binary (HG) and ordinal (severity of nausea and vomiting) phenotypes of pregnancy complications. Two loci, chr19p13...
March 21, 2018: Nature Communications
https://www.readbyqxmd.com/read/29540360/direct-to-consumer-test-for-brca-mutations-authorized
#10
(no author information available yet)
The FDA authorized 23andMe to market the first direct-to-consumer test to check for three BRCA1/2 mutations associated with a higher risk of developing breast, ovarian, and prostate cancers. The mutations are most commonly found in about 2% of women of Ashkenazi Jewish descent.
May 2018: Cancer Discovery
https://www.readbyqxmd.com/read/29527006/genome-wide-analyses-of-self-reported-empathy-correlations-with-autism-schizophrenia-and-anorexia-nervosa
#11
Varun Warrier, Roberto Toro, Bhismadev Chakrabarti, Anders D Børglum, Jakob Grove, David A Hinds, Thomas Bourgeron, Simon Baron-Cohen
Empathy is the ability to recognize and respond to the emotional states of other individuals. It is an important psychological process that facilitates navigating social interactions and maintaining relationships, which are important for well-being. Several psychological studies have identified difficulties in both self-report and performance-based measures of empathy in a range of psychiatric conditions. To date, no study has systematically investigated the genetic architecture of empathy using genome-wide association studies (GWAS)...
March 12, 2018: Translational Psychiatry
https://www.readbyqxmd.com/read/29469551/don%C3%A2-t-try-this-at-home-the-fda%C3%A2-s-restrictive-regulation-of-home-testing-devices
#12
Shelby Baird
Over the past forty years, the Food and Drug Administration (FDA) has successfully restricted consumers' access to home-testing applications based on the notion that it should protect individuals from their own reactions to test results. In the 1970s, the FDA briefly denied women access to home pregnancy tests that were identical to those used in laboratories. In the late 1980s and early 1990s, it relied on concerns about consumer responses to HIV status results to justify a categorical ban on applications for HIV home-testing technology...
November 2017: Duke Law Journal
https://www.readbyqxmd.com/read/29346494/novel-myopia-genes-and-pathways-identified-from-syndromic-forms-of-myopia
#13
D Ian Flitcroft, James Loughman, Christine F Wildsoet, Cathy Williams, Jeremy A Guggenheim
Purpose: To test the hypothesis that genes known to cause clinical syndromes featuring myopia also harbor polymorphisms contributing to nonsyndromic refractive errors. Methods: Clinical phenotypes and syndromes that have refractive errors as a recognized feature were identified using the Online Mendelian Inheritance in Man (OMIM) database. One hundred fifty-four unique causative genes were identified, of which 119 were specifically linked with myopia and 114 represented syndromic myopia (i...
January 1, 2018: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/29325848/a-genetic-investigation-of-sex-bias-in-the-prevalence-of-attention-deficit-hyperactivity-disorder
#14
Joanna Martin, Raymond K Walters, Ditte Demontis, Manuel Mattheisen, S Hong Lee, Elise Robinson, Isabell Brikell, Laura Ghirardi, Henrik Larsson, Paul Lichtenstein, Nicholas Eriksson, Thomas Werge, Preben Bo Mortensen, Marianne Giørtz Pedersen, Ole Mors, Merete Nordentoft, David M Hougaard, Jonas Bybjerg-Grauholm, Naomi R Wray, Barbara Franke, Stephen V Faraone, Michael C O'Donovan, Anita Thapar, Anders D Børglum, Benjamin M Neale
BACKGROUND: Attention-deficit/hyperactivity disorder (ADHD) shows substantial heritability and is two to seven times more common in male individuals than in female individuals. We examined two putative genetic mechanisms underlying this sex bias: sex-specific heterogeneity and higher burden of risk in female cases. METHODS: We analyzed genome-wide autosomal common variants from the Psychiatric Genomics Consortium and iPSYCH Project (n = 20,183 cases, n = 35,191 controls) and Swedish population register data (n = 77,905 cases, n = 1,874,637 population controls)...
December 2, 2017: Biological Psychiatry
https://www.readbyqxmd.com/read/29230059/genome-wide-association-study-of-delay-discounting-in-23-217-adult-research-participants-of-european-ancestry
#15
Sandra Sanchez-Roige, Pierre Fontanillas, Sarah L Elson, Anita Pandit, Ellen M Schmidt, Johanna R Foerster, Gonçalo R Abecasis, Joshua C Gray, Harriet de Wit, Lea K Davis, James MacKillop, Abraham A Palmer
Delay discounting (DD), the tendency to discount the value of delayed versus current rewards, is elevated in a constellation of diseases and behavioral conditions. We performed a genome-wide association study of DD using 23,127 research participants of European ancestry. The most significantly associated single-nucleotide polymorphism was rs6528024 (P = 2.40 × 10-8 ), which is located in an intron of the gene GPM6B. We also showed that 12% of the variance in DD was accounted for by genotype and that the genetic signature of DD overlapped with attention-deficit/hyperactivity disorder, schizophrenia, major depression, smoking, personality, cognition and body weight...
January 2018: Nature Neuroscience
https://www.readbyqxmd.com/read/29198719/multiethnic-gwas-reveals-polygenic-architecture-of-earlobe-attachment
#16
John R Shaffer, Jinxi Li, Myoung Keun Lee, Jasmien Roosenboom, Ekaterina Orlova, Kaustabh Adhikari, Carla Gallo, Giovanni Poletti, Lavinia Schuler-Faccini, Maria-Cátira Bortolini, Samuel Canizales-Quinteros, Francisco Rothhammer, Gabriel Bedoya, Rolando González-José, Paige E Pfeffer, Christopher A Wollenschlaeger, Jacqueline T Hecht, George L Wehby, Lina M Moreno, Anan Ding, Li Jin, Yajun Yang, Jenna C Carlson, Elizabeth J Leslie, Eleanor Feingold, Mary L Marazita, David A Hinds, Timothy C Cox, Sijia Wang, Andrés Ruiz-Linares, Seth M Weinberg
The genetic basis of earlobe attachment has been a matter of debate since the early 20th century, such that geneticists argue both for and against polygenic inheritance. Recent genetic studies have identified a few loci associated with the trait, but large-scale analyses are still lacking. Here, we performed a genome-wide association study of lobe attachment in a multiethnic sample of 74,660 individuals from four cohorts (three with the trait scored by an expert rater and one with the trait self-reported). Meta-analysis of the three expert-rater-scored cohorts revealed six associated loci harboring numerous candidate genes, including EDAR, SP5, MRPS22, ADGRG6 (GPR126), KIAA1217, and PAX9...
December 7, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/29193773/post-genomic-behavioral-genetics-from-revolution-to-routine
#17
REVIEW
D G Ashbrook, M K Mulligan, R W Williams
What was once expensive and revolutionary-full-genome sequence-is now affordable and routine. Costs will continue to drop, opening up new frontiers in behavioral genetics. This shift in costs from the genome to the phenome is most notable in large clinical studies of behavior and associated diseases in cohorts that exceed hundreds of thousands of subjects. Examples include the Women's Health Initiative (www.whi.org), the Million Veterans Program (www. RESEARCH: va.gov/MVP), the 100 000 Genomes Project (genomicsengland...
November 28, 2017: Genes, Brain, and Behavior
https://www.readbyqxmd.com/read/29146147/age-induced-and-photoinduced-changes-in-gene-expression-profiles-in-facial-skin-of-caucasian-females-across-6-decades-of-age
#18
COMPARATIVE STUDY
Alexa B Kimball, Maria B Alora-Palli, Makio Tamura, Lisa A Mullins, Chieko Soh, Robert L Binder, Neil A Houston, Emily D Conley, Joyce Y Tung, Nikki E Annunziata, Charles C Bascom, Robert J Isfort, Bradley B Jarrold, Raghu Kainkaryam, Heather L Rocchetta, Dionne D Swift, Jay P Tiesman, Kazumi Toyama, Jun Xu, Xianghong Yan, Rosemarie Osborne
BACKGROUND: Intrinsic and extrinsic factors, including ultraviolet irradiation, lead to visible signs of skin aging. OBJECTIVE: We evaluated molecular changes occurring in photoexposed and photoprotected skin of white women 20 to 74 years of age, some of whom appeared substantially younger than their chronologic age. METHODS: Histologic and transcriptomics profiling were conducted on skin biopsy samples of photoexposed (face and dorsal forearm) or photoprotected (buttocks) body sites from 158 women...
January 2018: Journal of the American Academy of Dermatology
https://www.readbyqxmd.com/read/29101092/development-and-validation-of-a-taxonomy-for-characterizing-measurements-in-health-self-quantification
#19
Manal Almalki, Kathleen Gray, Fernando Martin-Sanchez
BACKGROUND: The use of wearable tools for health self-quantification (SQ) introduces new ways of thinking about one's body and about how to achieve desired health outcomes. Measurements from individuals, such as heart rate, respiratory volume, skin temperature, sleep, mood, blood pressure, food consumed, and quality of surrounding air can be acquired, quantified, and aggregated in a holistic way that has never been possible before. However, health SQ still lacks a formal common language or taxonomy for describing these kinds of measurements...
November 3, 2017: Journal of Medical Internet Research
https://www.readbyqxmd.com/read/29091937/phenome-wide-association-study-using-research-participants-self-reported-data-provides-insight-into-the-th17-and-il-17-pathway
#20
Margaret G Ehm, Jennifer L Aponte, Mathias N Chiano, Laura M Yerges-Armstrong, Toby Johnson, Jonathan N Barker, Suzanne F Cook, Akanksha Gupta, David A Hinds, Li Li, Matthew R Nelson, Michael A Simpson, Chao Tian, Linda C McCarthy, Deepak K Rajpal, Dawn M Waterworth
A phenome-wide association study of variants in genes in the Th17 and IL-17 pathway was performed using self-reported phenotypes and genetic data from 521,000 research participants of 23andMe. Results replicated known associations with similar effect sizes for autoimmune traits illustrating self-reported traits can be a surrogate for clinically assessed conditions. Novel associations controlling for a false discovery rate of 5% included the association of the variant encoding p.Ile684Ser in TYK2 with increased risk of tonsillectomy, strep throat occurrences and teen acne, the variant encoding p...
2017: PloS One
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