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“Genetic risk score”

P J Moore, T J Lyons, J Gallacher
Time-dependent data collected in studies of Alzheimer's disease usually has missing and irregularly sampled data points. For this reason time series methods which assume regular sampling cannot be applied directly to the data without a pre-processing step. In this paper we use a random forest to learn the relationship between pairs of data points at different time separations. The input vector is a summary of the time series history and it includes both demographic and non-time varying variables such as genetic data...
2019: PloS One
Ashish Sarraju, Joshua W Knowles
Familial Hypercholesterolemia (FH) is an inherited lipid disorder affecting 1 in 220 individuals resulting in highly elevated low-density lipoprotein levels and risk of premature coronary disease. Pathogenic variants causing FH typically involve the LDL receptor ( LDLR ), apolipoprotein B-100 ( APOB ), and proprotein convertase subtulisin/kexin type 9 genes ( PCSK9 ) and if identified convey a risk of early onset coronary artery disease (ASCVD) of 3- to 10-fold vs. the general population depending on the severity of the mutation...
2019: Frontiers in Cardiovascular Medicine
Simina Toma, Lisa Fiksenbaum, Danielle Omrin, Benjamin I Goldstein
Background: Bipolar disorder (BD) is one of the most heritable medical conditions, and certain phenotypic characteristics are especially familial in BD. BD is also strongly associated with elevated and premature cardiovascular disease (CVD) morbidity and mortality. Thus, far, little is known regarding the familiality of cardiovascular risk in BD. We therefore examined the extent of CVD-related conditions among relatives of: adolescents with BD with a family history of BD (familial BD), adolescents with BD without a family history of BD (non-familial BD) and healthy controls (HC)...
2019: Frontiers in Psychiatry
Harriet Cullen, Michelle L Krishnan, Saskia Selzam, Gareth Ball, Alessia Visconti, Alka Saxena, Serena J Counsell, Jo Hajnal, Gerome Breen, Robert Plomin, A David Edwards
Neuropsychiatric disease has polygenic determinants but is often precipitated by environmental pressures, including adverse perinatal events. However, the way in which genetic vulnerability and early-life adversity interact remains obscure. We hypothesised that the extreme environmental stress of prematurity would promote neuroanatomic abnormality in individuals genetically vulnerable to psychiatric disorders. In 194 unrelated infants (104 males, 90 females), born before 33 weeks of gestation (mean gestational age 29...
February 13, 2019: Scientific Reports
Sam Li-Sheng Chen, Jean Ching-Yuan Fann, Csilla Sipeky, Teng-Kai Yang, Sherry Yueh-Hsia Chiu, Amy Ming-Fang Yen, Virpi Laitinen, Teuvo L J Tammela, Ulf-Håkan Stenman, Anssi Auvinen, Johanna Schleutker, Hsiu-Hsi Chen
PURPOSE: Combined information on single nucleotide polymorphisms and prostate specific antigen offers opportunities to improve the performance of screening by risk stratification. We aimed to predict the risk of prostate cancer based on prostate specific antigen together with single nucleotide polymorphism information. MATERIALS AND METHODS: We performed a prospective study of 20,575 men with prostate specific antigen testing and 4,967 with a polygenic risk score for prostate cancer based on 66 single nucleotide polymorphisms from the Finnish population based screening trial of prostate cancer and 5,269 samples of 7 single nucleotide polymorphisms from the Finnish prostate cancer DNA study...
March 2019: Journal of Urology
Joon-Hyop Lee, Sohee Jung, Won Seo Park, Eun Kyung Choe, Eunyoung Kim, Rumi Shin, Seung Chul Heo, Jae Hyun Lee, Kwangsoo Kim, Young Jun Chai
Hypoxia-related gene (HRG) expression is associated with survival outcomes of colorectal cancer (CRC). Our aim was developing a nomogram predicting CRC overall survival (OS) with HRGs and clinicopathological factors. The Cancer Genome Atlas (TCGA) database was used as discovery cohort and two Gene Expression Omnibus databases (GSE39582 and GSE41258) served as validation cohorts. A genetic risk score model prognosticating OS was developed using mRNA expression level of HRGs. Nomogram predicting OS was developed using genetic risk score model and clinicopathological variables...
February 12, 2019: Scientific Reports
P H Vogt, B Besikoglu, M Bettendorf, P Frank-Herrmann, J Zimmer, U Bender, S Knauer-Fischer, D Choukair, P Sinn, Y-F C Lau, P H Heidemann, T Strowitzki
STUDY QUESTION: Which Y genes mapped to the 'Gonadoblastoma Y (GBY)' locus on human Y chromosome are expressed in germ cells of individuals with some Differences of Sexual Development (DSD) and a Y chromosome in their karyotype (DSD-XY groups)? SUMMARY ANSWER: The GBY candidate genes DDX3Y and TSPY are expressed in the germ cells of DSD-XY patients from distinct etiologies: patients with mixed gonadal dysgenesis (MGD) and sex chromosome mosaics (45,X0/46,XY; 46,XX/46,XY); patients with complete androgen insensitivity (CAIS), patients with complete gonadal dysgenesis (CGD; e...
February 12, 2019: Human Reproduction
Rona J Strawbridge, Joey Ward, Amy Ferguson, Nicholas Graham, Richard J Shaw, Breda Cullen, Robert Pearsall, Laura M Lyall, Keira J A Johnston, Claire L Niedzwiedz, Jill P Pell, Daniel Mackay, Julie Langan Martin, Donald M Lyall, Mark E S Bailey, Daniel J Smith
BACKGROUND: Suicide is a major issue for global public health. Suicidality describes a broad spectrum of thoughts and behaviours, some of which are common in the general population. Although suicide results from a complex interaction of multiple social and psychological factors, predisposition to suicidality is at least partly genetic. METHODS: Ordinal genome-wide association study of suicidality in the UK Biobank cohort comparing: 'no suicidality' controls (N = 83,557); 'thoughts that life was not worth living' (N = 21,063); 'ever contemplated self-harm' (N = 13,038); 'act of deliberate self-harm in the past' (N = 2498); and 'previous suicide attempt' (N = 2666)...
February 7, 2019: EBioMedicine
Eric R Kallwitz, Bamidele O Tayo, Mark H Kuniholm, Jianwen Cai, Martha Daviglus, Richard S Cooper, Scott J Cotler
BACKGROUND & AIMS: Non-alcoholic fatty liver disease (NAFLD) disproportionally affects Hispanic/Latino populations. However, the magnitude varies among Hispanic/Latino ethnic groups. We investigated the mechanisms of these disparities. METHODS: We examined associations of NAFLD-associated genetic variants and continental ancestry with suspected NAFLD, levels of alanine aminotransferase (ALT), and liver fibrosis using data from the Hispanic Community Health Study/Study of Latinos-a population-based study of Hispanic/Latino adults in the United States...
February 8, 2019: Clinical Gastroenterology and Hepatology
Alessandro Gialluisi, Till F M Andlauer, Nazanin Mirza-Schreiber, Kristina Moll, Jessica Becker, Per Hoffmann, Kerstin U Ludwig, Darina Czamara, Beate St Pourcain, William Brandler, Ferenc Honbolygó, Dénes Tóth, Valéria Csépe, Guillaume Huguet, Andrew P Morris, Jacqueline Hulslander, Erik G Willcutt, John C DeFries, Richard K Olson, Shelley D Smith, Bruce F Pennington, Anniek Vaessen, Urs Maurer, Heikki Lyytinen, Myriam Peyrard-Janvid, Paavo H T Leppänen, Daniel Brandeis, Milene Bonte, John F Stein, Joel B Talcott, Fabien Fauchereau, Arndt Wilcke, Clyde Francks, Thomas Bourgeron, Anthony P Monaco, Franck Ramus, Karin Landerl, Juha Kere, Thomas S Scerri, Silvia Paracchini, Simon E Fisher, Johannes Schumacher, Markus M Nöthen, Bertram Müller-Myhsok, Gerd Schulte-Körne
Developmental dyslexia (DD) is one of the most prevalent learning disorders, with high impact on school and psychosocial development and high comorbidity with conditions like attention-deficit hyperactivity disorder (ADHD), depression, and anxiety. DD is characterized by deficits in different cognitive skills, including word reading, spelling, rapid naming, and phonology. To investigate the genetic basis of DD, we conducted a genome-wide association study (GWAS) of these skills within one of the largest studies available, including nine cohorts of reading-impaired and typically developing children of European ancestry (N = 2562-3468)...
February 11, 2019: Translational Psychiatry
Viola S Palladino, Rhiannon McNeill, Andreas Reif, Sarah Kittel-Schneider
Attention-deficit/hyperactivity disorder (ADHD) is a common and highly heritable neurodevelopmental disorder. In recent years, genetic studies have revealed several risk gene variants associated with ADHD; however, these variants could only be partly replicated and are responsible for only a fraction of the whole heritability of ADHD estimated from family and twin studies. One factor that could potentially explain the 'missing heritability' of ADHD is that childhood and adult or persistent ADHD could be genetically distinct subtypes, which therefore need to be analyzed separately...
February 6, 2019: Psychiatric Genetics
Sanish Sathyan, Tao Wang, Emmeline Ayers, Joe Verghese
OBJECTIVE: To examine polygenic inheritance of motoric cognitive risk syndrome (MCR), a predementia syndrome characterized by the presence of subjective cognitive complaints and slow gait. METHODS: We analyzed 4,915 individuals, age 65 years and above, with European ancestry (mean age 75.0 ± 6.8 years, 56.6% women) in the Health and Retirement Study. Polygenic scores (PGS) were calculated as weighted sums of the effect of single nucleotide polymorphisms, with effect sizes derived from genome-wide association studies...
February 8, 2019: Neurology
Nur Zeinomar, Kelly-Anne Phillips, Mary B Daly, Roger L Milne, Gillian S Dite, Robert J MacInnis, Yuyan Liao, Rebecca D Kehm, Julia A Knight, Melissa C Southey, Wendy K Chung, Graham G Giles, Sue-Anne McLachlan, Michael L Friedlander, Prue C Weideman, Gord Glendon, Stephanie Nesci, Irene L Andrulis, Saundra S Buys, Esther M John, John L Hopper, Mary Beth Terry
Benign breast disease(BBD) is an established breast cancer(BC) risk factor, but it is unclear whether the magnitude of the association applies to women at familial or genetic risk. This information is needed to improve BC risk assessment in clinical settings. Using the Prospective Family Study Cohort (ProF-SC), we used Cox proportional hazards models to estimate hazard ratios(HRs) and 95% confidence intervals(CIs) for the association of BBD with BC risk. We also examined whether the association with BBD differed by underlying familial risk profile(FRP), calculated using absolute risk estimates from the BOADICEA model...
February 6, 2019: International Journal of Cancer. Journal International du Cancer
Sara Bandres-Ciga, Alastair J Noyce, Gibran Hemani, Aude Nicolas, Andrea Calvo, Gabriele Mora, Pentti J Tienari, David J Stone, Mike A Nalls, Andrew B Singleton, Adriano Chiò, Bryan J Traynor
OBJECTIVE: To identify shared polygenic risk and causal associations in amyotrophic lateral sclerosis (ALS). METHODS: Linkage disequilibrium score regression and Mendelian randomization were applied in a large-scale, data-driven manner to explore genetic correlations and causal relationships between > 700 phenotypic traits and ALS. Exposures consisted of publicly available genome-wide association studies (GWASes) summary statistics from MR Base and LD-hub. The outcome data came from the recently published ALS GWAS involving 20,806 cases and 59,804 controls...
February 5, 2019: Annals of Neurology
Kang Ik K Cho, Minah Kim, Youngwoo Bryan Yoon, Junhee Lee, Tae Young Lee, Jun Soo Kwon
OBJECTIVES: Alterations in thalamocortical anatomical connectivity, specifically the connection between the orbitofrontal cortex and thalamus, have been frequently reported in schizophrenia and are suggested to contribute to the pathophysiology of schizophrenia. The connectivity of the thalamocortical white matter in unaffected relatives of schizophrenia patients was compared to that of healthy controls. METHODS: The unaffected relative group was defined as asymptomatic family members who had at least one first-degree relative with schizophrenia and one or more other affected first- to third-degree relatives...
February 6, 2019: Australian and New Zealand Journal of Psychiatry
Hongqiu Pan, Miaomiao Yang, Lihuan Lu, Bilin Tao, Xiaomin He, Hongbo Chen, Honggang Yi, Shaowen Tang
OBJECTIVE: Antituberculosis (anti-TB) drug-induced hepatotoxicity (ATDH) is a serious adverse drug reaction, and its pathogenic mechanism has not been elucidated thoroughly to date. A recent genome-wide association study reported that seven single-nucleotide polymorphisms (SNPs) in the family with sequence similarity 65, member B gene (FAM65B), ATP/GTP-binding protein-like 4 gene (AGBL4), and cut-like homeobox 2 gene (CUX2) were associated strongly with ATDH in Ethiopian patients. We validated this relationship in a Chinese Han anti-TB treatment population...
February 1, 2019: Pharmacogenetics and Genomics
María Alemany-Navarro, Javier Costas, Eva Real, Cinto Segalàs, Sara Bertolín, Laura Domènech, Raquel Rabionet, Ángel Carracedo, Jose M Menchón, Pino Alonso
The rate of response to pharmacological treatment in Obsessive-compulsive disorder (OCD) oscillates between 40 and 70%. Genetic and environmental factors have been associated with treatment response in OCD. This study analyzes the predictive ability of a polygenic risk score (PRS) built from OCD-risk variants, for treatment response in OCD, and the modulation role of stressful life events (SLEs) at the onset of the disorder. PRSs were calculated for a sample of 103 patients. Yale-Brown Obsessive Compulsive Scale (YBOCS) scores were obtained before and after a 12-week treatment...
February 4, 2019: Translational Psychiatry
Jin Szatkiewicz, James J Crowley, Annelie Nordin Adolfsson, Karolina A Åberg, Maaike Alaerts, Giulio Genovese, Steven McCarroll, Jurgen Del-Favero, Rolf Adolfsson, Patrick F Sullivan
We searched for genetic causes of major psychiatric disorders (bipolar disorder, schizoaffective disorder, and schizophrenia) in a large, densely affected pedigree from Northern Sweden that originated with three pairs of founders born around 1650. We applied a systematic genomic approach to the pedigree via karyotyping (N = 9), genome-wide SNP arrays (N = 418), whole-exome sequencing (N = 26), and whole-genome sequencing (N = 10). Comprehensive analysis did not identify plausible variants of strong effect...
February 4, 2019: Translational Psychiatry
George S Vlachos, Stephanie Consentino, Mary H Kosmidis, Costas A Anastasiou, Mary Yannakoulia, Efthimios Dardiotis, Georgios Hadjigeorgiou, Paraskevi Sakka, Eva Ntanasi, Nikolaos Scarmeas
OBJECTIVES: We studied the prevalence of subjective cognitive decline (SCD) and its determinants in a sample of 1456 cognitively normal Greek adults ≥65 years old. METHODS/DESIGN: Subjects were evaluated by a multi-disciplinary team on their neurological, medical, neuropsychological and lifestyle profile to reach consensus diagnoses. We investigated various types of SCD, including single-question, general memory decline, specific subjective memory decline based on a list of questions and three types of subjective naming, orientation and calculation decline...
February 3, 2019: International Journal of Geriatric Psychiatry
Khadijah E Abdallah, Kathleen A Calzone, Jean F Jenkins, Melissa E Moss, Sherrill L Sellers, Vence L Bonham
Objective: The debate over use of race as a proxy for genetic risk of disease continues, but little is known about how primary care providers (nurse practitioners and general internal medicine physicians) currently use race in their clinical practice. Our study investigates primary care providers' use of race in clinical practice. Methods: Survey data from three cross-sectional parent studies were used. A total of 178 nurse practitioners (NPs) and 759 general internal medicine physicians were included...
2019: Ethnicity & Disease
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