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https://www.readbyqxmd.com/read/28892059/a-meta-analysis-of-genome-wide-association-studies-identifies-17-new-parkinson-s-disease-risk-loci
#1
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...
September 11, 2017: Nature Genetics
https://www.readbyqxmd.com/read/28868574/racial-minority-group-interest-in-direct-to-consumer-genetic-testing-findings-from-the-pgen-study
#2
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...
September 4, 2017: Journal of Community Genetics
https://www.readbyqxmd.com/read/28836065/a-multi-stage-genome-wide-association-study-of-uterine-fibroids-in-african-americans
#3
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...
August 23, 2017: Human Genetics
https://www.readbyqxmd.com/read/28795158/replication-and-characterization-of-cadm2-and-msra-genes-on-human-behavior
#4
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
#5
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
#6
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
#7
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
#8
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
#9
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
#10
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...
May 16, 2017: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/28464943/diet-and-exercise-changes-following-direct-to-consumer-personal-genomic-testing
#11
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
#12
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
https://www.readbyqxmd.com/read/28212542/two-stage-genome-wide-association-study-identifies-a-novel-susceptibility-locus-associated-with-melanoma
#13
Katherine J Ransohoff, Wenting Wu, Hyunje G Cho, Harvind C Chahal, Yuan Lin, Hong-Ji Dai, Christopher I Amos, Jeffrey E Lee, Jean Y Tang, David A Hinds, Jiali Han, Qingyi Wei, Kavita Y Sarin
Genome-wide association studies have identified 21 susceptibility loci associated with melanoma. These loci implicate genes affecting pigmentation, nevus count, telomere maintenance, and DNA repair in melanoma risk. Here, we report the results of a two-stage genome-wide association study of melanoma. The stage 1 discovery phase consisted of 4,842 self-reported melanoma cases and 286,565 controls of European ancestry from the 23andMe research cohort and the stage 2 replication phase consisted of 1,804 melanoma cases and 1,026 controls from the University of Texas M...
March 14, 2017: Oncotarget
https://www.readbyqxmd.com/read/28030700/23andme-big-data-and-the-genetics-of-depression
#14
Jennifer Abbasi
No abstract text is available yet for this article.
January 3, 2017: JAMA: the Journal of the American Medical Association
https://www.readbyqxmd.com/read/27937091/personal-genomic-testing-for-cancer-risk-results-from-the-impact-of-personal-genomics-study
#15
Stacy W Gray, Sarah E Gollust, Deanna Alexis Carere, Clara A Chen, Angel Cronin, Sarah S Kalia, Huma Q Rana, Mack T Ruffin, Catharine Wang, J Scott Roberts, Robert C Green
Purpose Significant concerns exist regarding the potential for unwarranted behavior changes and the overuse of health care resources in response to direct-to-consumer personal genomic testing (PGT). However, little is known about customers' behaviors after PGT. Methods Longitudinal surveys were given to new customers of 23andMe (Mountain View, CA) and Pathway Genomics (San Diego, CA). Survey data were linked to individual-level PGT results through a secure data transfer process. Results Of the 1,042 customers who completed baseline and 6-month surveys (response rate, 71...
February 20, 2017: Journal of Clinical Oncology: Official Journal of the American Society of Clinical Oncology
https://www.readbyqxmd.com/read/27855737/genetic-basis-of-chronotype-in-humans-insights-from-three-landmark-gwas
#16
David A Kalmbach, Logan D Schneider, Joseph Cheung, Sarah J Bertrand, Thiruchelvam Kariharan, Allan I Pack, Philip R Gehrman
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 medical and psychiatric illnesses. Twin and family studies have shown that chronotype is a heritable trait, thus directing attention toward its genetic basis...
October 28, 2016: Sleep
https://www.readbyqxmd.com/read/27785563/a-preliminary-assessment-of-the-forenseq%C3%A2-fgx-system-next-generation-sequencing-of-an-str-and-snp-multiplex
#17
Ashley L Silvia, Nathan Shugarts, Jenifer Smith
The ForenSeq™ FGx System (Illumina, San Diego, CA) was initially evaluated in concordance with SWGDAM guidelines for internal validation to determine the quality of the system's components: the ForenSeq™ DNA Signature Prep Kit reagents, the MiSeq FGx™ instrument, and the ForenSeq™ Universal Analysis Software, for the analysis of targeted, forensically informative single nucleotide polymorphisms (SNPs) and short tandem repeats (STRs). This multiplex consisted of STRs (autosomal, X, and Y) and SNPs (identity, ancestry, and phenotypic) that were run using one preparation process...
January 2017: International Journal of Legal Medicine
https://www.readbyqxmd.com/read/27622933/analysis-of-23andme-antidepressant-efficacy-survey-data-implication-of-circadian-rhythm-and-neuroplasticity-in-bupropion-response
#18
Q S Li, C Tian, G R Seabrook, W C Drevets, V A Narayan
Genetic predisposition may contribute to the differences in drug-specific, class-specific or antidepressant-wide treatment resistance. Clinical studies with the genetic data are often limited in sample sizes. Drug response obtained from self-reports may offer an alternative approach to conduct a study with much larger sample size. Using the phenotype data collected from 23andMe 'Antidepressant Efficacy and Side Effects' survey and genotype data from 23andMe's research participants, we conducted genome-wide association study (GWAS) on subjects of European ancestry using four groups of phenotypes (a) non-treatment-resistant depression (n=7795) vs treatment-resistant depression (TRD, n=1311), (b) selective serotonin reuptake inhibitors (SSRI) responders (n=6348) vs non-responders (n=3340), (c) citalopram/escitalopram responders (n=2963) vs non-responders (n=2005), and (d) norepinephrine-dopamine reuptake inhibitor (NDRI, bupropion) responders (n=2675) vs non-responders (n=1861)...
September 13, 2016: Translational Psychiatry
https://www.readbyqxmd.com/read/27613923/implications-of-personal-genomic-testing-for-health-behaviors-the-case-of-smoking
#19
Emily Olfson, Sarah Hartz, Deanna Alexis Carere, Robert C Green, J Scott Roberts, Laura J Bierut
INTRODUCTION: Direct-to-consumer personal genomic testing has the potential to influence health behaviors, including smoking. Critics of this testing highlight limited evidence to support positive behavioral benefits and caution that genomic results may provide false reassurance, leading to unhealthy behaviors. This study investigates interest in genetic risks of smoking-related diseases and changes in smoking behaviors among genomic testing consumers. METHODS: From 2012 to 2013, a longitudinal series of web surveys was conducted...
December 2016: Nicotine & Tobacco Research: Official Journal of the Society for Research on Nicotine and Tobacco
https://www.readbyqxmd.com/read/27551265/transitioning-pharmacogenomics-into-the-clinical-setting-training-future-pharmacists
#20
Amber Frick, Cristina S Benton, Kelly L Scolaro, Jacqueline E McLaughlin, Courtney L Bradley, Oscar T Suzuki, Nan Wang, Tim Wiltshire
Pharmacogenomics, once hailed as a futuristic approach to pharmacotherapy, has transitioned to clinical implementation. Although logistic and economic limitations to clinical pharmacogenomics are being superseded by external measures such as preemptive genotyping, implementation by clinicians has met resistance, partly due to a lack of education. Pharmacists, with extensive training in pharmacology and pharmacotherapy and accessibility to patients, are ideally suited to champion clinical pharmacogenomics. This study aimed to analyze the outcomes of an innovative pharmacogenomic teaching approach...
2016: Frontiers in Pharmacology
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