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“Genetic risk score”

Michael D Quartermain, Kevin D Hill, David J Goldberg, Jeffrey P Jacobs, Marshall L Jacobs, Sara K Pasquali, George R Verghese, Amelia S Wallace, Ross M Ungerleider
The early postnatal course for a newborn with critical congenital heart disease (CHD) can be negatively impacted if diagnosis is delayed. Despite this, there continues to be inconsistent evidence regarding potential benefits associated with prenatal diagnosis (PND) in neonates who undergo cardiac surgery. The objective of this study was to better define the impact of a PND on pre-operative morbidity by utilizing a large clinical database. Neonates (< 30 days) undergoing heart surgery from 2010 to 2014 and entered in the Society of Thoracic Surgeons Congenital Heart Surgery Database (STS-CHSD) were included...
October 19, 2018: Pediatric Cardiology
Na Luo, Jing Sui, Jiayu Chen, Fuquan Zhang, Lin Tian, Dongdong Lin, Ming Song, Vince D Calhoun, Yue Cui, Victor M Vergara, Fanfan Zheng, Jingyu Liu, Zhenyi Yang, Nianming Zuo, Lingzhong Fan, Kaibin Xu, Shengfeng Liu, Jian Li, Yong Xu, Sha Liu, Luxian Lv, Jun Chen, Yunchun Chen, Hua Guo, Peng Li, Lin Lu, Ping Wan, Huaning Wang, Huiling Wang, Hao Yan, Jun Yan, Yongfeng Yang, Hongxing Zhang, Dai Zhang, Tianzi Jiang
BACKGROUND: In the past decades, substantial effort has been made to explore the genetic influence on brain structural/functional abnormalities in schizophrenia, as well as cognitive impairments. In this work, we aimed to extend previous studies to explore the internal mediation pathway among genetic factor, brain features and cognitive scores in a large Chinese dataset. METHODS: Gray matter (GM) volume, fractional amplitude of low-frequency fluctuations (fALFF), and 4522 schizophrenia-susceptible single nucleotide polymorphisms (SNP) from 905 Chinese subjects were jointly analyzed, to investigate the multimodal association...
October 16, 2018: EBioMedicine
Siri Ranlund, Maria Joao Rosa, Simone de Jong, James H Cole, Marinos Kyriakopoulos, Cynthia H Y Fu, Mitul A Mehta, Danai Dima
Psychiatric illnesses are complex and polygenic. They are associated with widespread alterations in the brain, which are partly influenced by genetic factors. There have been some attempts to relate polygenic risk scores (PRS) - a measure of the overall genetic risk an individual carries for a disorder - to brain structure using univariate methods. However, PRS are likely associated with distributed and covarying effects across the brain. We therefore used multivariate machine learning in this proof-of-principle study to investigate associations between brain structure and PRS for four psychiatric disorders; attention deficit-hyperactivity disorder (ADHD), autism, bipolar disorder and schizophrenia...
October 9, 2018: NeuroImage: Clinical
Lisa R Starr, Kimberly Dienes, Y Irina Li, Zoey A Shaw
Chronic stress exposure has been shown to alter hypothalamic-pituitary-adrenal (HPA) axis functioning, which may mediate its effects on psychopathology and negative health outcomes. The nature of the chronic stress-HPA axis dysregulation is unclear and individuals likely vary in the extent to and manner in which indices of HPA axis regulation, such as diurnal cortisol slope, are influenced by chronic stress. We examined whether HPA-axis-linked genetic variation moderates the association between chronic stress and diurnal cortisol slope, and potential implications for mood and fatigue (possible manifestations of negative clinical outcomes)...
October 6, 2018: Psychoneuroendocrinology
John S Anderson, Jess Shade, Emily DiBlasi, Andrey A Shabalin, Anna R Docherty
Psychiatric conditions are highly polygenic, meaning that genetic risk arises from many hundreds or thousands of genetic variants. Psychiatric genomics and psychological science are increasingly using polygenic risk scoring-the integration of all common genetic variant effects into a single risk metric-to model latent risk and to predict mental health outcomes. This review discusses the use of these scores in psychology and psychiatry to date, important methodological considerations, and potential of scoring methods for informing psychological science...
September 20, 2018: Current Opinion in Psychology
Pilar Arribas, Carmen Iranzo-Tatay, Luis M Rojo-Bofill, Ana García-Blanco, Llanos Conesa, Javier Plumed, Isabel Bofill-Moscardó, Lorenzo Livianos-Aldana, Luis Rojo-Moreno
significantly increase during puberty. The goal of this research is to evaluate changes during puberty which could have genetic and environmental influences on a broad spectrum of disordered eating attitudes and behaviors. Methods. Participants were 158 pairs of adolescent female twins, categorized in two groups according to menarche stage (pre or post). ED measures: Disordered eating attitudes and behaviors were assessed by means of the Children&#8217;s Eating Attitudes Test and four sub-scales of the Eating Disorders Inventory: Drive for thinness, Body dissatisfaction, Ineffectiveness, and Perfectionism...
September 2018: Actas Españolas de Psiquiatría
B M Huibregtse, J D Boardman
Objective: Poor patient-provider interactions due to provider bias are associated with worse physiological and behavioural health outcomes for patients. Prior research has shown that patients with obesity perceive less favourable interactions compared with those with lower weights. This paper explores whether this association depends on patients' cumulative polygenic score with respect to genes linked to obesity (i.e. a single variable quantifying the individual's genome-wide risk factors for high body mass index [BMI] or genetic liability) and whether providers react differentially to patients whose obesity is more genetic in nature compared with patients with diabetes caused by environmental factors...
October 2018: Obesity Science & Practice
Elena De Mattia, Eva Dreussi, Marcella Montico, Sara Gagno, Chiara Zanusso, Luca Quartuccio, Salvatore De Vita, Michela Guardascione, Angela Buonadonna, Mario D'Andrea, Nicoletta Pella, Adolfo Favaretto, Enrico Mini, Stefania Nobili, Loredana Romanato, Erika Cecchin, Giuseppe Toffoli
There are clinical challenges related to adjuvant treatment in colorectal cancer (CRC) and novel molecular markers are needed for better risk stratification of patients. Our aim was to integrate our previously reported clinical-genetic prognostic score with new immunogenetic markers of 5-year disease-free survival (DFS) to evaluate the recurrence risk stratification before fluoropyrimidine (FL)-based adjuvant therapy. The study population included a total of 270 stage II-III CRC patients treated with adjuvant FL with (FL + OXA, n = 119) or without oxaliplatin (FL, n = 151)...
2018: Frontiers in Pharmacology
Sandra Sanchez-Roige, Abraham A Palmer, Pierre Fontanillas, Sarah L Elson, Mark J Adams, David M Howard, Howard J Edenberg, Gail Davies, Richard C Crist, Ian J Deary, Andrew M McIntosh, Toni-Kim Clarke
OBJECTIVE: Alcohol use disorders are common conditions that have enormous social and economic consequences. Genome-wide association analyses were performed to identify genetic variants associated with a proxy measure of alcohol consumption and alcohol misuse and to explore the shared genetic basis between these measures and other substance use, psychiatric, and behavioral traits. METHOD: This study used quantitative measures from the Alcohol Use Disorders Identification Test (AUDIT) from two population-based cohorts of European ancestry (UK Biobank [N=121,604] and 23andMe [N=20,328]) and performed a genome-wide association study (GWAS) meta-analysis...
October 19, 2018: American Journal of Psychiatry
Young Ae Cho, Jeonghee Lee, Jae Hwan Oh, Hee Jin Chang, Dae Kyung Sohn, Aesun Shin, Jeongseon Kim
Purpose: Both genetic and lifestyle factors contribute to the risk of colorectal cancer, but each individual factor has a limited effect. Therefore, we investigated the association between colorectal cancer and the combined effects of genetic factors or/and lifestyle risk factors. Materials and Methods: In a case-control study of 632 colorectal cancer patients and 1,295 healthy controls, we quantified the genetic risk score for colorectal cancer using 13 polymorphisms...
October 18, 2018: Cancer Research and Treatment: Official Journal of Korean Cancer Association
Anke Hüls, Michael J Abramson, Dorothea Sugiri, Kateryna Fuks, Ursula Krämer, Jean Krutmann, Tamara Schikowski
BACKGROUND: Whilst many risk factors have been described for atopic eczema in children, little is known about the eczema phenotype in middle aged or elderly adults. OBJECTIVE: To examine the association between air pollution, atopy and eczema in adulthood. METHODS: This analysis was based on 834 women from the Study on the influence of Air pollution on Lung Function, Inflammation and Ageing (SALIA) cohort in Germany. Incident symptoms of eczema after the age of 55 years and prevalent symptoms of eczema ≤12 months before investigation were assessed by questionnaire at second follow-up (2007-2010)...
October 15, 2018: Journal of Allergy and Clinical Immunology
M Oellerich, E Schütz, J Beck, P D Walson
Genomic analyses in oncologic care allow for the development of more precise clinical laboratory tests that will be critical for personalized pharmacotherapy. Traditional biopsy-based approaches are limited by the availability of sequential tissue specimens to detect resistance. Blood-based genomic profiling ("liquid biopsy") is useful for longitudinal monitoring of tumor genomes and can complement biopsies. Tumor-associated mutations can be identified in cell-free tumor DNA (ctDNA) from patient blood samples and used for monitoring disease activity...
October 16, 2018: Therapeutic Drug Monitoring
Inmaculada C Rodríguez-Rojo, Pablo Cuesta, María Eugenia López, Jaisalmer de Frutos-Lucas, Ricardo Bruña, Ernesto Pereda, Ana Barabash, Pedro Montejo, Mercedes Montenegro-Peña, Alberto Marcos, Ramón López-Higes, Alberto Fernández, Fernando Maestú
The pathophysiological processes undermining brain functioning decades before the onset of the clinical symptoms associated with dementia are still not well understood. Several heritability studies have reported that the Brain Derived Neurotrophic Factor ( BDNF ) Val66Met genetic polymorphism could contribute to the acceleration of cognitive decline in aging. This mutation may affect brain functional connectivity (FC), especially in those who are carriers of the BDNF Met allele. The aim of this work was to explore the influence of the BDNF Val66Met polymorphism in whole brain eyes-closed, resting-state magnetoencephalography (MEG) FC in a sample of 36 cognitively intact (CI) older females...
2018: Frontiers in Neuroscience
Lane B Benes, Daniel J Brandt, Eric J Brandt, Michael H Davidson
PURPOSE OF THE REVIEW: To summarize advances in genomic medicine and anticipated future directions to improve cardiovascular risk reduction. RECENT FINDINGS: Mendelian randomization and genome-wide association studies have given significant insights into the role of genetics in dyslipidemia and cardiovascular disease (CVD), with over 160 gene loci found to be associated with coronary artery disease to date. This has enabled the creation of genetic risk scores that have demonstrated improved risk prediction when added to clinical markers of CVD risk...
October 17, 2018: Current Cardiology Reports
Frances Rice, Lucy Riglin, Ajay K Thapar, Jon Heron, Richard Anney, Michael C O'Donovan, Anita Thapar
Importance: Depression often first manifests in adolescence. Thereafter, individual trajectories vary substantially, but it is not known what shapes depression trajectories in youth. Adult studies suggest that genetic risk for schizophrenia, a psychiatric disorder with a neurodevelopmental component, may contribute to an earlier onset of depression. Objective: To test the hypothesis that there are distinct trajectories of depressive symptoms and that genetic liability for neurodevelopmental psychiatric disorders (eg, schizophrenia, attention deficit/hyperactivity disorder [ADHD]), as well as for major depressive disorder (MDD), contribute to early-onset depression...
October 14, 2018: JAMA Psychiatry
Yang-Ming Lee, Chew-Teng Kor, Diko Zhou, Hsueh-Chou Lai, Chia-Chu Chang, Wen-Lung Ma
AIM: Diabetes is a complex metabolic disease characterized by chronic low-grade inflammation in which genetic and environmental factors are involved. Growing evidence implicates that alterations of the gut microbiota potentially contribute to the emergence of metabolic diseases. The human appendix has more recently been recognized as a microbial reservoir for repopulating the gastrointestinal tract and an important part of the immune system. Thus, appendectomy may influence microbial ecology and immune function...
2018: PloS One
Yue Guan, Debra L Roter, Lori H Erby, Jennifer L Wolff, Laura N Gitlin, J Scott Roberts, Robert C Green, Kurt D Christensen
The objective of this study was to identify how features of Alzheimer's disease (AD) genetic risk disclosure communication relate to patient and visit companion satisfaction. We conducted secondary analyses of 79 session recordings from the fourth REVEAL Study, a randomized-controlled trial of AD genetic risk disclosure among patients with mild cognitive impairment. Patient and companion satisfaction were ascertained from postdisclosure surveys. The Roter Interaction Analysis System (RIAS) was used to code triadic communication between the counselor, patient, and companion...
2018: Journal of Health Communication
Helene Gellert-Kristensen, Nawar Dalila, Sune Fallgaard Nielsen, Børge Grønne Nordestgaard, Anne Tybjaerg-Hansen, Stefan Stender
Gallstone disease is a common complex disease that confers a substantial economic burden on society. The genetic underpinnings of gallstone disease remain incompletely understood. We aimed to identify new genetic associations with gallstone disease using publicly available data from the UK Biobank and two large Danish cohorts. We extracted genetic associations with gallstone disease from the Global Biobank Engine (GBE), an online browser of genomewide associations in UK Biobank participants (14,940 cases and 322,268 controls)...
October 16, 2018: Hepatology: Official Journal of the American Association for the Study of Liver Diseases
Daniele Campa, Martina Matarazzi, William Greenhalf, Maarten Bijlsma, Kai-Uwe Saum, Claudio Pasquali, Hanneke van Laarhoven, Andrea Szentesi, Francesca Federici, Pavel Vodicka, Niccola Funel, Raffaele Pezzilli, H Bas Bueno-de-Mesquita, Ludmila Vodickova, Daniela Basso, Ofure Obazee, Thilo Hackert, Pavel Soucek, Katarina Cuk, Jörg Kaiser, Cosimo Sperti, Martin Lovecek, Gabriele Capurso, Beatrice Mohelnikova-Duchonova, Kay-Tee Khaw, Anna-Katharina König, Juozas Kupcinskas, Rudolf Kaaks, Franco Bambi, Livia Archibugi, Andrea Mambrini, Giulia Martina Cavestro, Stefano Landi, Péter Hegyi, Jakob R Izbicki, Domenica Gioffreda, Carlo Federico Zambon, Francesca Tavano, Renata Talar-Wojnarowska, Krzysztof Jamroziak, Timothy J Key, Gianfranco Delle Fave, Oliver Strobel, Laimas Jonaitis, Angelo Andriulli, Rita T Lawlor, Felice Pirozzi, Verena Katzke, Chiara Valsuani, Yogesh K Vashist, Hermann Brenner, Federico Canzian
Telomere deregulation is a hallmark of cancer. Telomere length measured in lymphocytes (LTL) has been shown to be a risk marker for several cancers. For pancreatic ductal adenocarcinoma (PDAC) consensus is lacking whether risk is associated with long or short telomeres. Mendelian randomization approaches have shown that a score built from SNPs associated with LTL could be used as a robust risk marker. We explored this approach in a large scale study within the PANcreatic Disease ReseArch (PANDoRA) consortium...
October 16, 2018: International Journal of Cancer. Journal International du Cancer
Gunn-Helen Moen, Marissa LeBlanc, Christine Sommer, Rashmi B Prasad, Tove Lekva, Kjersti R Normann, Elisabeth Qvigstad, Leif Groop, Kåre I Birkeland, David M Evans, Kathrine F Frøslie
OBJECTIVE: Hyperglycaemia during pregnancy increases the risk of adverse health outcomes in mother and child, but the genetic aetiology is scarcely studied. Our aims were to (1) assess the overlapping genetic aetiology between the pregnant and non-pregnant population and (2) assess the importance of genome-wide polygenic contributions to glucose traits during pregnancy, by exploring whether genetic risk scores (GRSs) for fasting glucose (FG), 2-h glucose (2hG), type 2 diabetes (T2D) and BMI in non-pregnant individuals were associated with glucose measures in pregnant women...
September 18, 2018: European Journal of Endocrinology
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