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“Genetic risk score”

James Y Dai, Michael LeBlanc, Phyllis J Goodman, M Scott Lucia, Ian M Thompson, Catherine M Tangen
In the Prostate Cancer Prevention Trial (PCPT), genotypes that may modify the effect of finasteride on the risk of prostate cancer have not been identified. Germline Genetic data from 1157 prostate cancer cases in PCPT were analyzed by case-only methods. Genotypes included 357 single nucleotide polymorphisms (SNPs) from 83 candidate genes in androgen metabolism, inflammation, circadian rhythm and other pathways. Univariate case-only analysis was conducted to evaluate whether individual SNPs modified the finasteride effect on the risk of high-grade and low-grade prostate cancer...
December 11, 2018: Cancer Prevention Research
Kwai Fung Hui, Tsz Fung Chan, Wanling Yang, Jiangshan Jane Shen, Ki Pui Lam, Hin Kwok, Pak C Sham, Sai Wah Tsao, Dora L Kwong, Maria Li Lung, Alan Kwok Shing Chiang
Whether certain variants of Epstein-Barr virus (EBV) are linked to the pathogenesis of nasopharyngeal carcinoma (NPC), which shows a marked geographic restriction, remains an unresolved issue. We performed a case-control study comparing genomic sequences of EBV isolated from saliva samples of 142 population carriers with those from primary tumour biopsies derived from 62 patients with NPC of Hong Kong. Cluster analysis discovered five EBV subgroups 1A-C and 2A-B amongst the population carriers in contrast to the predominance of 1A and -B in the majority of NPC...
December 10, 2018: International Journal of Cancer. Journal International du Cancer
Tian Yang, Xue Li, Zahra Montazeri, Julian Little, Susan M Farrington, John Pa Ioannidis, Malcolm G Dunlop, Harry Campbell, Maria Timofeeva, Evropi Theodoratou
The cause of colorectal cancer (CRC) is multifactorial, involving both genetic variants and environmental risk factors. We systematically searched the MEDLINE, EMBASE, China National Knowledge Infrastructure (CNKI) and Wanfang databases from inception to December 2016, to identify systematic reviews and meta-analyses of observational studies that investigated gene-environment (G × E) interactions in CRC risk. Then, we critically evaluated the cumulative evidence for the G × E interactions using an extension of the Human Genome Epidemiology Network's Venice criteria...
December 11, 2018: International Journal of Cancer. Journal International du Cancer
Timothea Toulopoulou, Xiaowei Zhang, Stacey Cherny, Dwight Dickinson, Karen F Berman, Richard E Straub, Pak Sham, Daniel R Weinberger
Cognitive deficit is thought to represent, at least in part, genetic mechanisms of risk for schizophrenia, with recent evidence from statistical modelling of twin data suggesting direct causality from the former to the latter. However, earlier evidence was based on inferences from twin not molecular genetic data and it is unclear how much genetic influence 'passes through' cognition on the way to diagnosis. Thus, we included direct measurements of genetic risk (e.g. schizophrenia polygenic risk scores) in causation models to assess the extent to which cognitive deficit mediates some of the effect of polygenic risk scores on the disorder...
December 6, 2018: Brain: a Journal of Neurology
Javier Brahm, Alvaro Urzúa, Jaime Poniachik, Dante D Cáceres, Laura Carreño, Mauricio Venegas
BACKGROUND: Host genetic predispositions may be important determinants of liver fibrosis in patients with chronic hepatitis C (CHC). The association between Interferon-L 4 (IFNL4) rs12979860 C>T polymorphism and risk of liver fibrosis in CHC is contradictory. AIM: To evaluate the impact of IFNL4 rs12979860 polymorphism on the risk of fibrosis in patients with CHC. MATERIAL AND METHODS: One hundred fifty patients with CHC aged 50 ± 11 years (89 females) were genotyped for IFNL4 rs12979860 using real time PCR...
July 2018: Revista Médica de Chile
Katherine E Mues, Alina N Bogdanov, Keri L Monda, Larisa Yedigarova, Alexander Liede, Lee Kallenbach
Background: Familial hypercholesterolemia (FH) is a condition characterized by high cholesterol levels and increased risk for coronary heart disease (CHD) that often goes undiagnosed. The Dutch Lipid Network Criteria (DLNC) are used to identify FH in clinical settings via physical examination, personal and family history of CHD, in addition to the presence of deleterious mutations of the LDLR , ApoB , and PCSK9 genes. Agreement between clinical and genetic diagnosis of FH varies. While an ICD diagnosis code was not available for coding FH until 2016, Systematized Nomenclature of Medicine (SNOMED) clinical concept codes, including genetic diagnoses, for FH have been utilized in electronic health records (EHRs)...
2018: Clinical Epidemiology
Maurits C F J de Rotte, Saskia M F Pluijm, Pascal H P de Jong, Maja Bulatović Ćalasan, Nico M Wulffraat, Angelique E A M Weel, Jan Lindemans, J M W Hazes, Robert de Jonge
OBJECTIVE: The objective was to predict insufficient response to 3 months methotrexate (MTX) in DMARD naïve rheumatoid arthritis patients. METHODS: A Multivariable logistic regression model of rheumatoid arthritis patients starting MTX was developed in a derivation cohort with 285 patients starting MTX in a clinical multicentre, stratified single-blinded trial, performed in seven secondary care clinics and a tertiary care clinic. The model was validated in a validation cohort with 102 patients starting MTX at a tertiary care clinic...
2018: PloS One
Farren B S Briggs, Justin C Yu, Mary F Davis, Jinghong Jiangyang, Shannon Fu, Erica Parrotta, Douglas D Gunzler, Daniel Ontaneda
BACKGROUND: The phenotypic presentation of multiple sclerosis (MS) may predict long-term outcomes and little is known about factors contributing to heterogeneity at MS onset. Given temporality, it is likely MS risk factors also influence presentation of the disease near onset. METHODS: Using a retrospective cross-sectional study of MS cases, we investigated: age of onset (AOO), number of impaired functional domains (NIFDs), time to second relapse (TT2R), and early relapse activity (ERA)...
December 4, 2018: Multiple Sclerosis and related Disorders
Barbara J Turner, Chen-Pin Wang, Trisha V Melhado, Raudel Bobadilla, Mamta K Jain, Amit G Singal
BACKGROUND & AIMS: Advanced liver disease, which includes fibrosis and cirrhosis, has been reported to be more prevalent in Hispanics patients at the time of diagnosis of chronic hepatitis C virus (HCV) infection than non-Hispanic black or non-Hispanic white patients. We performed a propensity score-matched analysis to determine whether metabolic risk factors contribute to this disparity. METHODS: We collected data from persons with 748 HCV infection (22% Hispanic, 53% non-Hispanic black, and 26% non-Hispanic while; 23% with advanced liver disease), born from 1945 through 1965, diagnosed at 6 healthcare systems in Texas...
December 6, 2018: Clinical Gastroenterology and Hepatology
Ya-Ting Chang, Etsuro Mori, Maki Suzuki, Manabu Ikeda, Chi-Wei Huang, Jun-Jun Lee, Wen-Neng Chang, Chiung-Chih Chang
PURPOSE OF THE RESEARCH: Although single nucleotide polymorphisms of membrane-spanning 4A (MS4A) (rs670139) and several other susceptibility genes have shown interaction effects on the risk of Alzheimer's disease (AD), little is known about the interaction effects of apolipoprotein E (APOE) with MS4A (rs670139) on cognitive performances, and the underlying pathogenesis is unclear. The study aimed to investigate the APOE-MS4A (rs670139) interaction effects on cognitive performances, cortical volumes, and functional connectivity (FC) in brain networks...
December 4, 2018: NeuroImage: Clinical
Barbara Eichhorst, Michael Hallek, Valentin Goede
Chronic lymphocytic leukemia (CLL) is a disease characterized by an increasing incidence with age reaching 35/100,000 in patients over 85 years. Elderly CLL patients carry several challenges, which have to be considered particularly in advanced stages including a higher risk of infections and individual differences in comorbidities and geriatric syndromes. Although no specific tool for geriatric evaluation in CLL has been developed so far, several of them (e.g. CIRS or Charlson-Score) have been tested in CLL patients...
December 2018: European Journal of Internal Medicine
Jennifer D Brooks, Elizabeth A Comen, Anne S Reiner, Irene Orlow, Siok F Leong, Xiaolin Liang, Lene Mellemkjær, Julia A Knight, Charles F Lynch, Esther M John, Leslie Bernstein, Meghan Woods, David R Doody, Kathleen E Malone, Jonine L Bernstein
BACKGROUND: Tamoxifen treatment greatly reduces a woman's risk of developing a second primary breast cancer. There is, however, substantial variability in treatment response, some of which may be attributed to germline genetic variation. CYP2D6 is a key enzyme in the metabolism of tamoxifen to its active metabolites, and variants in this gene have been associated with reduced tamoxifen metabolism. The impact of variation on risk of contralateral breast cancer (CBC) is unknown. METHODS: Germline DNA from 1514 CBC cases and 2203 unilateral breast cancer controls was genotyped for seven single nucleotide polymorphisms, one three-nucleotide insertion-deletion, and a full gene deletion...
December 10, 2018: Breast Cancer Research: BCR
Jiannan Liu, Chenyang Li, Jing Xu, Huanmei Wu
BACKGROUND: Colorectal Cancer (CRC) is the third leading cause of cancer death among men and women in the United States. Research has shown that the risk of CRC associates with genetic and lifestyle factors. It is possible to prevent or minimize certain CRC risks by adopting a healthy lifestyle. Existing Clinical Decision Support Systems (CDSS) mainly targeted physicians as the CDSS users. As a result, the availability of patient-oriented CDSS is limited. Our project is to develop patient-oriented CDSS for active CRC management...
December 7, 2018: BMC Medical Informatics and Decision Making
Maarten Caspers, Sara Blocquiaux, Ruben Charlier, Johan Lefevre, Katrien De Bock, Martine Thomis
Metabolic syndrome (MetS) is a highly prevalent condition causing increased risk of several life-threatening diseases. MetS has a pronounced hereditary basis, but is also influenced by environmental factors, partly through epigenetic mechanisms. In this study, the five phenotypes underlying MetS were incorporated into a continuous score for metabolic fitness (MF) and associations with both genotypic variation and leukocyte DNA methylation were investigated. Baseline MF phenotypes (waist circumference, blood pressure, blood glucose, serum triglycerides and high-density lipoproteins) of 710 healthy Flemish adults were measured...
December 7, 2018: Physiological Genomics
Amaranta Manrique de Lara, Liliana Soto-Gómez, Elisa Núñez-Acosta, Garbiñe Saruwatari-Zavala, Miguel E Rentería
Genome-wide association studies have revolutionized our understanding of the genetic architecture of complex traits and diseases over the last decade. This knowledge is enabling clinicians, researchers, and direct-to-consumer genetics companies to conduct disease susceptibility testing based on powerful methods such as polygenic risk scoring. However, these technologies raise a set of complex ethical, legal, social, and policy considerations. Here we review and discuss a series of ethical dilemmas associated with susceptibility genetic testing for the two most common late-onset neurodegenerative diseases, Alzheimer's and Parkinson's disease, including testing in asymptomatic individuals...
December 7, 2018: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
Egon Bachler, Alexander Frühmann, Herbert Bachler, Benjamin Aas, Marius Nickel, Guenter Karl Schiepek
Context: Families with high rates of childhood adversities (CAs) (multi problem families, MPF) have an increasing importance in public health-policy. Objective: The present study addresses the relationship between risk- and protective factors and the severity and treatment-outcome of mental disorders. Setting: Family-therapeutic home-based treatment for MPF. We examined a clinical sample ( N = 1031) of children between the age of 4 to 17, and a non-clinical sample of 148 children. We hypothesized that of all children of the clinical group have a predominance of risk factors and a higher number of psychopathological symptoms...
2018: Frontiers in Psychology
Sophie K Kirchner, Selen Ozkan, Richard Musil, Ilja Spellmann, Nirmal Kannayian, Peter Falkai, Moritz Rossner, Sergi Papiol
Cognitive deficits are increasingly recognized as a core dimension rather than a consequence of schizophrenia (SCZ). The previous evidence supports the hypothesis of shared genetic factors between SCZ and cognitive ability. The objective of this study was to test whether and to what extent the variation of disease-relevant neurocognitive function in a sample of SCZ patients from the previous clinical interventional studies can be explained by SCZ polygenic risk scores (PRSs) or by hypothesis-driven and biomedical PRSs...
December 7, 2018: European Archives of Psychiatry and Clinical Neuroscience
Rebecca Waller, Luke W Hyde, Kelly L Klump, S Alexandra Burt
OBJECTIVE: Callous-unemotional (CU) traits increase risk for children to develop severe childhood aggression and conduct disorder. CU traits are typically described as highly heritable, and debate continues about whether the parenting environment matters in their etiology. Strong genetically informed designs are needed to test for the presence of environmental links between parenting practices and CU traits. Our objective was to determine whether parental harshness and parental warmth were related to children's aggression or CU traits when accounting for genetically mediated effects...
December 2018: Journal of the American Academy of Child and Adolescent Psychiatry
Jennifer A Hutcheon, Olof Stephansson, Sven Cnattingius, Lisa M Bodnar, KariJ Johansson
BACKGROUND: Observational cohort studies have consistently shown that maternal weight gain in pregnancy is positively associated with fetal size, but it is unknown whether the association is causal. This study investigated the effect of pregnancy weight gain on fetal growth using a sibling comparison design to control for unmeasured confounding by genetic and shared environmental factors. METHODS: Our study population included 44,457 infants (21,680 women) with electronic medical records in the Stockholm-Gotland Obstetrical Database, 2008-2014...
December 3, 2018: Epidemiology
Timothy Vivian-Griffiths, Emily Baker, Karl M Schmidt, Matthew Bracher-Smith, James Walters, Andreas Artemiou, Peter Holmans, Michael C O'Donovan, Michael J Owen, Andrew Pocklington, Valentina Escott-Price
A major controversy in psychiatric genetics is whether nonadditive genetic interaction effects contribute to the risk of highly polygenic disorders. We applied a support vector machines (SVMs) approach, which is capable of building linear and nonlinear models using kernel methods, to classify cases from controls in a large schizophrenia case-control sample of 11,853 subjects (5,554 cases and 6,299 controls) and compared its prediction accuracy with the polygenic risk score (PRS) approach. We also investigated whether SVMs are a suitable approach to detecting nonlinear genetic effects, that is, interactions...
December 4, 2018: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
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