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https://www.readbyqxmd.com/read/29101092/development-and-validation-of-a-taxonomy-for-characterizing-measurements-in-health-self-quantification
#1
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
#2
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
https://www.readbyqxmd.com/read/29083406/shared-genetic-origin-of-asthma-hay-fever-and-eczema-elucidates-allergic-disease-biology
#3
Manuel A Ferreira, Judith M Vonk, Hansjörg Baurecht, Ingo Marenholz, Chao Tian, Joshua D Hoffman, Quinta Helmer, Annika Tillander, Vilhelmina Ullemar, Jenny van Dongen, Yi Lu, Franz Rüschendorf, Jorge Esparza-Gordillo, Chris W Medway, Edward Mountjoy, Kimberley Burrows, Oliver Hummel, Sarah Grosche, Ben M Brumpton, John S Witte, Jouke-Jan Hottenga, Gonneke Willemsen, Jie Zheng, Elke Rodríguez, Melanie Hotze, Andre Franke, Joana A Revez, Jonathan Beesley, Melanie C Matheson, Shyamali C Dharmage, Lisa M Bain, Lars G Fritsche, Maiken E Gabrielsen, Brunilda Balliu, Jonas B Nielsen, Wei Zhou, Kristian Hveem, Arnulf Langhammer, Oddgeir L Holmen, Mari Løset, Gonçalo R Abecasis, Cristen J Willer, Andreas Arnold, Georg Homuth, Carsten O Schmidt, Philip J Thompson, Nicholas G Martin, David L Duffy, Natalija Novak, Holger Schulz, Stefan Karrasch, Christian Gieger, Konstantin Strauch, Ronald B Melles, David A Hinds, Norbert Hübner, Stephan Weidinger, Patrik K E Magnusson, Rick Jansen, Eric Jorgenson, Young-Ae Lee, Dorret I Boomsma, Catarina Almqvist, Robert Karlsson, Gerard H Koppelman, Lavinia Paternoster
Asthma, hay fever (or allergic rhinitis) and eczema (or atopic dermatitis) often coexist in the same individuals, partly because of a shared genetic origin. To identify shared risk variants, we performed a genome-wide association study (GWAS; n = 360,838) of a broad allergic disease phenotype that considers the presence of any one of these three diseases. We identified 136 independent risk variants (P < 3 × 10(-8)), including 73 not previously reported, which implicate 132 nearby genes in allergic disease pathophysiology...
October 30, 2017: Nature Genetics
https://www.readbyqxmd.com/read/29058377/genome-wide-association-study-of-alcohol-use-disorder-identification-test-audit-scores-in-20%C3%A2-328-research-participants-of-european-ancestry
#4
Sandra Sanchez-Roige, Pierre Fontanillas, Sarah L Elson, Joshua C Gray, Harriet de Wit, Lea K Davis, James MacKillop, Abraham A Palmer
Genetic factors contribute to the risk for developing alcohol use disorder (AUD). In collaboration with the genetics company 23andMe, Inc., we performed a genome-wide association study of the alcohol use disorder identification test (AUDIT), an instrument designed to screen for alcohol misuse over the past year. Our final sample consisted of 20 328 research participants of European ancestry (55.3% females; mean age = 53.8, SD = 16.1) who reported ever using alcohol. Our results showed that the 'chip-heritability' of AUDIT score, when treated as a continuous phenotype, was 12%...
October 23, 2017: Addiction Biology
https://www.readbyqxmd.com/read/29029846/identification-of-novel-risk-loci-for-restless-legs-syndrome-in-genome-wide-association-studies-in-individuals-of-european-ancestry-a-meta-analysis
#5
REVIEW
Barbara Schormair, Chen Zhao, Steven Bell, Erik Tilch, Aaro V Salminen, Benno Pütz, Yves Dauvilliers, Ambra Stefani, Birgit Högl, Werner Poewe, David Kemlink, Karel Sonka, Cornelius G Bachmann, Walter Paulus, Claudia Trenkwalder, Wolfgang H Oertel, Magdolna Hornyak, Maris Teder-Laving, Andres Metspalu, Georgios M Hadjigeorgiou, Olli Polo, Ingo Fietze, Owen A Ross, Zbigniew Wszolek, Adam S Butterworth, Nicole Soranzo, Willem H Ouwehand, David J Roberts, John Danesh, Richard P Allen, Christopher J Earley, William G Ondo, Lan Xiong, Jacques Montplaisir, Ziv Gan-Or, Markus Perola, Pavel Vodicka, Christian Dina, Andre Franke, Lukas Tittmann, Alexandre F R Stewart, Svati H Shah, Christian Gieger, Annette Peters, Guy A Rouleau, Klaus Berger, Konrad Oexle, Emanuele Di Angelantonio, David A Hinds, Bertram Müller-Myhsok, Juliane Winkelmann
BACKGROUND: Restless legs syndrome is a prevalent chronic neurological disorder with potentially severe mental and physical health consequences. Clearer understanding of the underlying pathophysiology is needed to improve treatment options. We did a meta-analysis of genome-wide association studies (GWASs) to identify potential molecular targets. METHODS: In the discovery stage, we combined three GWAS datasets (EU-RLS GENE, INTERVAL, and 23andMe) with diagnosis data collected from 2003 to 2017, in face-to-face interviews or via questionnaires, and involving 15 126 cases and 95 725 controls of European ancestry...
November 2017: Lancet Neurology
https://www.readbyqxmd.com/read/29022933/the-rise-and-fall-and-rise-again-of-23andme
#6
Erika Check Hayden
No abstract text is available yet for this article.
October 11, 2017: Nature
https://www.readbyqxmd.com/read/29020001/23andme-wades-further-into-drug-discovery
#7
Justin Petrone
No abstract text is available yet for this article.
October 11, 2017: Nature Biotechnology
https://www.readbyqxmd.com/read/28990594/the-gene-encoding-protocadherin-9-pcdh9-a-novel-risk-factor-for-major-depressive-disorder
#8
Xiao Xiao, Fanfan Zheng, Hong Chang, Yina Ma, Yong-Gang Yao, Xiong-Jian Luo, Ming Li
Genomic analyses have identified only a handful of robust risk loci for major depressive disorder (MDD). In addition to the published genome-wide significant genes, it is believed that there are undiscovered 'treasures' underlying the current MDD genome-wide association studies (GWAS) and gene expression datasets, and digging into these data will allow better understanding of the illness and development of new therapeutic approaches. For this purpose, we performed a meta-analytic study combining three MDD GWAS datasets (23andMe, CONVERGE and PGC), then conducted independent replications of significant loci in two additional samples...
October 9, 2017: Neuropsychopharmacology: Official Publication of the American College of Neuropsychopharmacology
https://www.readbyqxmd.com/read/28892059/a-meta-analysis-of-genome-wide-association-studies-identifies-17-new-parkinson-s-disease-risk-loci
#9
Diana Chang, Mike A Nalls, Ingileif B Hallgrímsdóttir, Julie Hunkapiller, Marcel van der Brug, Fang Cai, Geoffrey A Kerchner, Gai Ayalon, Baris Bingol, Morgan Sheng, David Hinds, Timothy W Behrens, Andrew B Singleton, Tushar R Bhangale, Robert R Graham
Common variant genome-wide association studies (GWASs) have, to date, identified >24 risk loci for Parkinson's disease (PD). To discover additional loci, we carried out a GWAS comparing 6,476 PD cases with 302,042 controls, followed by a meta-analysis with a recent study of over 13,000 PD cases and 95,000 controls at 9,830 overlapping variants. We then tested 35 loci (P < 1 × 10(-6)) in a replication cohort of 5,851 cases and 5,866 controls. We identified 17 novel risk loci (P < 5 × 10(-8)) in a joint analysis of 26,035 cases and 403,190 controls...
October 2017: Nature Genetics
https://www.readbyqxmd.com/read/28868574/racial-minority-group-interest-in-direct-to-consumer-genetic-testing-findings-from-the-pgen-study
#10
Latrice Landry, Daiva Elena Nielsen, Deanna Alexis Carere, J Scott Roberts, Robert C Green
There is little information regarding direct-to-consumer (DTC) personal genetic testing (PGT) in non-White racial minorities. Using a web-based survey, we compared the pretest interests and attitudes toward DTC-PGT of racial minority and White DTC-PGT customers of 23andMe and Pathway Genomics using chi-square tests and multinomial regression. Data were available for 1487 participants (1389 White, 44 Black, and 54 Asian). Survey responses were similar across racial groups, although a greater proportion of Blacks compared to Whites reported being "very interested" in genetic information related to traits (91...
October 2017: Journal of Community Genetics
https://www.readbyqxmd.com/read/28836065/a-multi-stage-genome-wide-association-study-of-uterine-fibroids-in-african-americans
#11
Jacklyn N Hellwege, Janina M Jeff, Lauren A Wise, C Scott Gallagher, Melissa Wellons, Katherine E Hartmann, Sarah F Jones, Eric S Torstenson, Scott Dickinson, Edward A Ruiz-Narváez, Nadin Rohland, Alexander Allen, David Reich, Arti Tandon, Bogdan Pasaniuc, Nicholas Mancuso, Hae Kyung Im, David A Hinds, Julie R Palmer, Lynn Rosenberg, Joshua C Denny, Dan M Roden, Elizabeth A Stewart, Cynthia C Morton, Eimear E Kenny, Todd L Edwards, Digna R Velez Edwards
Uterine fibroids are benign tumors of the uterus affecting up to 77% of women by menopause. They are the leading indication for hysterectomy, and account for $34 billion annually in the United States. Race/ethnicity and age are the strongest known risk factors. African American (AA) women have higher prevalence, earlier onset, and larger and more numerous fibroids than European American women. We conducted a multi-stage genome-wide association study (GWAS) of fibroid risk among AA women followed by in silico genetically predicted gene expression profiling of top hits...
October 2017: Human Genetics
https://www.readbyqxmd.com/read/28795158/replication-and-characterization-of-cadm2-and-msra-genes-on-human-behavior
#12
Brian Boutwell, David Hinds, Jorim Tielbeek, Ken K Ong, Felix R Day, John R B Perry
Progress identifying the genetic determinants of personality has historically been slow, with candidate gene studies and small-scale genome-wide association studies yielding few reproducible results. In the UK Biobank study, genetic variants in CADM2 and MSRA were recently shown to influence risk taking behavior and irritability respectively, representing some of the first genomic loci to be associated with aspects of personality. We extend this observation by performing a personality "phenome-scan" across 16 traits in up to 140,487 participants from 23andMe for these two genes...
July 2017: Heliyon
https://www.readbyqxmd.com/read/28629370/pharmacogenetic-testing-through-the-direct-to-consumer-genetic-testing-company-23andme
#13
Mengfei Lu, Cathryn M Lewis, Matthew Traylor
BACKGROUND: Rapid advances in scientific research have led to an increase in public awareness of genetic testing and pharmacogenetics. Direct-to-consumer (DTC) genetic testing companies, such as 23andMe, allow consumers to access their genetic information directly through an online service without the involvement of healthcare professionals. Here, we evaluate the clinical relevance of pharmacogenetic tests reported by 23andMe in their UK tests. METHODS: The research papers listed under each 23andMe report were evaluated, extracting information on effect size, sample size and ethnicity...
June 19, 2017: BMC Medical Genomics
https://www.readbyqxmd.com/read/28608123/genetics-of-depression-progress-at-last
#14
REVIEW
Niamh Mullins, Cathryn M Lewis
PURPOSE OF REVIEW: We will describe the success of recent genome-wide association studies that identify genetic variants associated with depression and outline the strategies used to reduce heterogeneity and increase sample size. RECENT FINDINGS: The CONVERGE consortium identified two genetic associations by focusing on a sample of Chinese women with recurrent severe depression. Three other loci have been found in Europeans by combining cohorts with clinical diagnosis and measures of depressive symptoms to increase sample size...
August 2017: Current Psychiatry Reports
https://www.readbyqxmd.com/read/28584286/genome-wide-meta-analysis-of-cognitive-empathy-heritability-and-correlates-with-sex-neuropsychiatric-conditions-and-cognition
#15
V Warrier, K L Grasby, F Uzefovsky, R Toro, P Smith, B Chakrabarti, J Khadake, E Mawbey-Adamson, N Litterman, J-J Hottenga, G Lubke, D I Boomsma, N G Martin, P K Hatemi, S E Medland, D A Hinds, T Bourgeron, S Baron-Cohen
We conducted a genome-wide meta-analysis of cognitive empathy using the 'Reading the Mind in the Eyes' Test (Eyes Test) in 88,056 research volunteers of European Ancestry (44,574 females and 43,482 males) from 23andMe Inc., and an additional 1497 research volunteers of European Ancestry (891 females and 606 males) from the Brisbane Longitudinal Twin Study. We confirmed a female advantage on the Eyes Test (Cohen's d=0.21, P<2.2 × 10(-16)), and identified a locus in 3p26.1 that is associated with scores on the Eyes Test in females (rs7641347, Pmeta=1...
June 6, 2017: Molecular Psychiatry
https://www.readbyqxmd.com/read/28554190/23andme-paves-the-way-for-direct-to-consumer-genetic-health-risk-tests-of-limited-clinical-utility
#16
Julia Wynn, Wendy K Chung
No abstract text is available yet for this article.
July 18, 2017: Annals of Internal Medicine
https://www.readbyqxmd.com/read/28533504/identification-of-genetic-loci-shared-between-schizophrenia-and-the-big-five-personality-traits
#17
Olav B Smeland, Yunpeng Wang, Min-Tzu Lo, Wen Li, Oleksandr Frei, Aree Witoelar, Martin Tesli, David A Hinds, Joyce Y Tung, Srdjan Djurovic, Chi-Hua Chen, Anders M Dale, Ole A Andreassen
Schizophrenia is associated with differences in personality traits, and recent studies suggest that personality traits and schizophrenia share a genetic basis. Here we aimed to identify specific genetic loci shared between schizophrenia and the Big Five personality traits using a Bayesian statistical framework. Using summary statistics from genome-wide association studies (GWAS) on personality traits in the 23andMe cohort (n = 59,225) and schizophrenia in the Psychiatric Genomics Consortium cohort (n = 82,315), we evaluated overlap in common genetic variants...
May 22, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28512697/utilization-of-genetic-counseling-after-direct-to-consumer-genetic-testing-findings-from-the-impact-of-personal-genomics-pgen-study
#18
Diane R Koeller, Wendy R Uhlmann, Deanna Alexis Carere, Robert C Green, J Scott Roberts
Direct-to-consumer personal genomic testing (DTC-PGT) results lead some individuals to seek genetic counseling (GC), but little is known about these consumers and why they seek GC services. We analyzed survey data pre- and post-PGT from 1026 23andMe and Pathway Genomics customers. Participants were mostly white (91%), female (60%), and of high socioeconomic status (80% college educated, 43% household income of ≥$100,000). After receiving PGT results, 43 participants (4%) made or planned to schedule an appointment with a genetic counselor; 390 (38%) would have used in-person GC had it been available...
December 2017: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/28464943/diet-and-exercise-changes-following-direct-to-consumer-personal-genomic-testing
#19
Daiva Elena Nielsen, Deanna Alexis Carere, Catharine Wang, J Scott Roberts, Robert C Green
BACKGROUND: The impacts of direct-to-consumer personal genomic testing (PGT) on health behaviors such as diet and exercise are poorly understood. Our investigation aimed to evaluate diet and exercise changes following PGT and to determine if changes were associated with genetic test results obtained from PGT. METHODS: Customers of 23andMe and Pathway Genomics completed a web-based survey prior to receiving PGT results (baseline) and 6 months post-results. Fruit and vegetable intake (servings/day), and light, vigorous and strength exercise frequency (days/week) were assessed...
May 2, 2017: BMC Medical Genomics
https://www.readbyqxmd.com/read/28364486/genetic-basis-of-chronotype-in-humans-insights-from-three-landmark-gwas
#20
REVIEW
David A Kalmbach, Logan D Schneider, Joseph Cheung, Sarah J Bertrand, Thiruchelvam Kariharan, Allan I Pack, Philip R Gehrman
Study Objectives: Chronotype, or diurnal preference, refers to behavioral manifestations of the endogenous circadian system that governs preferred timing of sleep and wake. As variations in circadian timing and system perturbations are linked to disease development, the fundamental biology of chronotype has received attention for its role in the regulation and dysregulation of sleep and related illnesses. Family studies indicate that chronotype is a heritable trait, thus directing attention toward its genetic basis...
February 1, 2017: Sleep
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