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“Genetic risk score”

Charlotte M Chiong, Ma Rina T Reyes-Quintos, Talitha Karisse L Yarza, Celina Ann M Tobias-Grasso, Anushree Acharya, Suzanne M Leal, Karen L Mohlke, Nanette L Mayol, Eva Maria Cutiongco-de la Paz, Regie Lyn P Santos-Cortez
HYPOTHESIS: Variants in SLC26A4 are an important cause of congenital hearing impairment in the Philippines. BACKGROUND: Cochlear implantation is a standard rehabilitation option for congenital hearing impairment worldwide, but places a huge cost burden in lower-income countries. The study of risk factors such as genetic variants that may help determine genetic etiology of hearing loss and also predict cochlear implant outcomes is therefore beneficial. METHODS: DNA samples from 29 GJB2-negative Filipino cochlear implantees were Sanger-sequenced for the coding exons of SLC26A4...
September 2018: Otology & Neurotology
Wei Zhan, Celeste A Shelton, Phil J Greer, Randall E Brand, David C Whitcomb
Pancreatic cancer requires many genetic mutations. Combinations of underlying germline variants and environmental factors may increase the risk of cancer and accelerate the oncogenic process. We systematically reviewed, annotated, and classified previously reported pancreatic cancer-associated germline variants in established risk genes. Variants were scored using multiple criteria and binned by evidence for pathogenicity, then annotated with published functional studies and associated biological systems/pathways...
September 2018: Pancreas
Maria Stella Calafato, Johan H Thygesen, Siri Ranlund, Eirini Zartaloudi, Wiepke Cahn, Benedicto Crespo-Facorro, Álvaro Díez-Revuelta, Marta Di Forti, Mei-Hua Hall, Conrad Iyegbe, Assen Jablensky, Rene Kahn, Luba Kalaydjieva, Eugenia Kravariti, Kuang Lin, Colm McDonald, Andrew M McIntosh, Andrew McQuillin, Marco Picchioni, Dan Rujescu, Madiha Shaikh, Timothea Toulopoulou, Jim Van Os, Evangelos Vassos, Muriel Walshe, John Powell, Cathryn M Lewis, Robin M Murray, Elvira Bramon
BACKGROUND: There is increasing evidence for shared genetic susceptibility between schizophrenia and bipolar disorder. Although genetic variants only convey subtle increases in risk individually, their combination into a polygenic risk score constitutes a strong disease predictor.AimsTo investigate whether schizophrenia and bipolar disorder polygenic risk scores can distinguish people with broadly defined psychosis and their unaffected relatives from controls. METHOD: Using the latest Psychiatric Genomics Consortium data, we calculated schizophrenia and bipolar disorder polygenic risk scores for 1168 people with psychosis, 552 unaffected relatives and 1472 controls...
September 2018: British Journal of Psychiatry: the Journal of Mental Science
Laura E Engelhardt, Jessica A Church, K Paige Harden, Elliot M Tucker-Drob
Behavioral and molecular genetic research has established that child cognitive ability and academic performance are substantially heritable, but genetic variation does not account for all of the stratification of cognitive and academic outcomes across families. Which specific contexts and experiences contribute to these shared environmental influences on cognitive ability and academic achievement? Using an ethnically and socioeconomically diverse sample of N = 1728 twins ages 7-20 from the Texas Twin Project, we identified specific measured family, school, and neighborhood socioecological contexts that statistically accounted for latent shared environmental variance in cognitive abilities and academic skills...
August 16, 2018: Developmental Science
Yan-Bin Pang, Ping Wu, Luo-Ming Hua, Xin DU, Jing Wang
The myelodysplastic syndromes (MDS) are a heterogeneous group of clonal myeloid disorders characterized by ineffective hematopoiesis and increased risk of transformation to acute myelogenous leukemia (AML). The treatment of MDS is highly dependent on the reliability of the prognostic evaluation model. Current clinical prognostic scoring systems are comprised of morphology, pivotal clinical trials and cytogenetic findings. However, none of the available prognostic systems incorporates disease-related molecular abnormalities, such as somatic mutations...
August 2018: Zhongguo Shi Yan Xue Ye Xue za Zhi
Patricia H Birch, S Adam, R R Coe, A V Port, M Vortel, J M Friedman, F Légaré
Shared decision-making (SDM) is a collaborative approach in which clinicians educate, support, and guide patients as they make informed, value-congruent decisions. SDM improves patients' health-related outcomes through increasing knowledge, reducing decisional conflict, and enhancing experience of care. We measured SDM in genetic counselling appointments with 27 pregnant women who were at increased risk to have a baby with a genetic abnormality. The eight experienced genetic counsellors who participated had no specific SDM training and were unaware that SDM was being assessed...
August 14, 2018: Journal of Genetic Counseling
Joshua C Bis, Xueqiu Jian, Brian W Kunkle, Yuning Chen, Kara L Hamilton-Nelson, William S Bush, William J Salerno, Daniel Lancour, Yiyi Ma, Alan E Renton, Edoardo Marcora, John J Farrell, Yi Zhao, Liming Qu, Shahzad Ahmad, Najaf Amin, Philippe Amouyel, Gary W Beecham, Jennifer E Below, Dominique Campion, Camille Charbonnier, Jaeyoon Chung, Paul K Crane, Carlos Cruchaga, L Adrienne Cupples, Jean-François Dartigues, Stéphanie Debette, Jean-François Deleuze, Lucinda Fulton, Stacey B Gabriel, Emmanuelle Genin, Richard A Gibbs, Alison Goate, Benjamin Grenier-Boley, Namrata Gupta, Jonathan L Haines, Aki S Havulinna, Seppo Helisalmi, Mikko Hiltunen, Daniel P Howrigan, M Arfan Ikram, Jaakko Kaprio, Jan Konrad, Amanda Kuzma, Eric S Lander, Mark Lathrop, Terho Lehtimäki, Honghuang Lin, Kari Mattila, Richard Mayeux, Donna M Muzny, Waleed Nasser, Benjamin Neale, Kwangsik Nho, Gaël Nicolas, Devanshi Patel, Margaret A Pericak-Vance, Markus Perola, Bruce M Psaty, Olivier Quenez, Farid Rajabli, Richard Redon, Christiane Reitz, Anne M Remes, Veikko Salomaa, Chloe Sarnowski, Helena Schmidt, Michael Schmidt, Reinhold Schmidt, Hilkka Soininen, Timothy A Thornton, Giuseppe Tosto, Christophe Tzourio, Sven J van der Lee, Cornelia M van Duijn, Badri Vardarajan, Weixin Wang, Ellen Wijsman, Richard K Wilson, Daniela Witten, Kim C Worley, Xiaoling Zhang, Celine Bellenguez, Jean-Charles Lambert, Mitja I Kurki, Aarno Palotie, Mark Daly, Eric Boerwinkle, Kathryn L Lunetta, Anita L Destefano, Josée Dupuis, Eden R Martin, Gerard D Schellenberg, Sudha Seshadri, Adam C Naj, Myriam Fornage, Lindsay A Farrer
The Alzheimer's Disease Sequencing Project (ADSP) undertook whole exome sequencing in 5,740 late-onset Alzheimer disease (AD) cases and 5,096 cognitively normal controls primarily of European ancestry (EA), among whom 218 cases and 177 controls were Caribbean Hispanic (CH). An age-, sex- and APOE based risk score and family history were used to select cases most likely to harbor novel AD risk variants and controls least likely to develop AD by age 85 years. We tested ~1.5 million single nucleotide variants (SNVs) and 50,000 insertion-deletion polymorphisms (indels) for association to AD, using multiple models considering individual variants as well as gene-based tests aggregating rare, predicted functional, and loss of function variants...
August 14, 2018: Molecular Psychiatry
Inés Gómez-Acebo, Trinidad Dierssen-Sotos, Camilo Palazuelos, Pablo Fernández-Navarro, Gemma Castaño-Vinyals, Jéssica Alonso-Molero, Carmen Urtiaga, Tania Fernández-Villa, Eva Ardanaz, Manuel Rivas-Del-Fresno, Ana Molina-Barceló, José-Juan Jiménez-Moleón, Lidia García-Martinez, Pilar Amiano, Paz Rodriguez-Cundin, Víctor Moreno, Beatriz Pérez-Gómez, Nuria Aragonés, Manolis Kogevinas, Marina Pollán, Javier Llorca
INTRODUCTION: Phototype has been associated with an increased risk of prostate cancer, and it is yet unknown if it is related to other hormone-dependent cancers, such as breast cancer or whether this association could be considered causal. METHODS: We examined the association between the phototype and breast and prostate cancers using a Mendelian randomization analysis. We studied 1,738 incident cases of breast cancer and another 817 cases of prostate cancer. To perform a Mendelian randomization analysis on the phototype-cancer relationship, a genetic pigmentation score was required that met the following criteria: (1) the genetic pigmentation score was associated with phototype in controls; (2) the genetic pigmentation score was not associated with confounders in the relationship between phototype and cancer, and (3) the genetic pigmentation score was associated with cancer only through its association with phototype...
2018: PloS One
Chao Liu, Jiaojiao Shi, Jun Guo
Purpose: Aerobactin is a critical factor for hypervirulent Klebsiella pneumoniae (hvKp) in genetic backgrounds, but data based on the genotype for the elderly is limited. Materials and methods: A retrospective study was conducted on elderly patients from June 2008 to July 2017 in 2 teaching hospitals. The clinical and microbiological data, including antimicrobial susceptibility testing, string test, extended-spectrum β-lactamase (ESBL) production, virulence gene, and multilocus sequence typing, of the hvKp group defined as aerobactin positive were compared with those of classic K...
2018: Infection and Drug Resistance
Amit V Khera, Mark Chaffin, Krishna G Aragam, Mary E Haas, Carolina Roselli, Seung Hoan Choi, Pradeep Natarajan, Eric S Lander, Steven A Lubitz, Patrick T Ellinor, Sekar Kathiresan
A key public health need is to identify individuals at high risk for a given disease to enable enhanced screening or preventive therapies. Because most common diseases have a genetic component, one important approach is to stratify individuals based on inherited DNA variation1 . Proposed clinical applications have largely focused on finding carriers of rare monogenic mutations at several-fold increased risk. Although most disease risk is polygenic in nature2-5 , it has not yet been possible to use polygenic predictors to identify individuals at risk comparable to monogenic mutations...
August 13, 2018: Nature Genetics
Hongyan Ren, Chiara Fabbri, Rudolf Uher, Marcella Rietschel, Ole Mors, Neven Henigsberg, Joanna Hauser, Astrid Zobel, Wolfgang Maier, Mojca Z Dernovsek, Daniel Souery, Annamaria Cattaneo, Gerome Breen, Ian W Craig, Anne E Farmer, Peter McGuffin, Cathryn M Lewis, Katherine J Aitchison
A key feature of major depressive disorder (MDD) is anhedonia, which is a predictor of response to antidepressant treatment. In order to shed light on its genetic underpinnings, we conducted a genome-wide association study (GWAS) followed by investigation of biological pathway enrichment using an anhedonia dimension for 759 patients with MDD in the GENDEP study. The GWAS identified 18 SNPs associated at genome-wide significance with the top one being an intronic SNP (rs9392549) in PRPF4B (pre-mRNA processing factor 4B) located on chromosome 6 (P = 2...
August 13, 2018: Translational Psychiatry
Huihui Ye, Adam G Sowalsky
Clinicopathologic parameters, including Gleason score, remain the most validated prognostic factors for patients diagnosed with localized prostate cancer (PCa). However, patients of the same risk groups have exhibited heterogeneity of disease outcomes. To improve risk classification, multiple molecular risk classifiers have been developed, which were designed to inform beyond existing clinicopathologic classifiers. Alterations affecting tumor suppressors and oncogenes, such as PTEN, MYC, BRCA2, and TP53, which have been long associated with aggressive PCa, demonstrated grade-dependent frequency of alterations in localized PCas...
August 2018: Urologic Oncology
Yazhou He, Maria Timofeeva, Susan M Farrington, Peter Vaughan-Shaw, Victoria Svinti, Marion Walker, Lina Zgaga, Xiangrui Meng, Xue Li, Athina Spiliopoulou, Xia Jiang, Elina Hyppönen, Peter Kraft, Douglas P Kiel, Caroline Hayward, Archie Campbell, David Porteous, Katarina Vucic, Iva Kirac, Masa Filipovic, Sarah E Harris, Ian J Deary, Richard Houlston, Ian P Tomlinson, Harry Campbell, Evropi Theodoratou, Malcolm G Dunlop
BACKGROUND: Whilst observational studies establish that lower plasma 25-hydroxyvitamin D (25-OHD) levels are associated with higher risk of colorectal cancer (CRC), establishing causality has proven challenging. Since vitamin D is modifiable, these observations have substantial clinical and public health implications. Indeed, many health agencies already recommend supplemental vitamin D. Here, we explore causality in a large Mendelian randomisation (MR) study using an improved genetic instrument for circulating 25-OHD...
August 14, 2018: BMC Medicine
Angelina R Sutin, Yannick Stephan, Antonio Terracciano
Depressive symptoms and a history of mental disorders are associated with increased risk for dementia. Less is known about whether other aspects of psychological distress and negative self-beliefs also increase risk. The purpose of this research is to examine 1) whether eight aspects of psychological distress and self-beliefs (anxiety, negative affect, hostility, anger-in, anger-out, hopelessness, pessimism, perceived constraints) are associated with risk of incident dementia and cognitive impairment not dementia (CIND), 2) whether the associations are independent of depressive symptoms and history of a mental health diagnosis, and 3) whether the associations are also independent of behavioral, clinical, and genetic risk factors...
August 3, 2018: Journal of Alzheimer's Disease: JAD
Tarek A Bismar, Samar Hegazy, Zhaoyong Feng, Darryl Yu, Bryan Donnelly, Nallasivam Palanisamy, Bruce J Trock
OBJECTIVES: To assess the prognostic value of ERG and PTEN protein expression as two of the most common genetic aberration in men with prostate cancer managed non-surgically by androgen deprivation therapy (ADT). MATERIALS AND METHODS: 463 tumor samples were assessed by double immunohistochemistry stains for ERG and PTEN and data correlated with clinical pathological features including, Gleason score, patients' outcome and ADT. RESULTS: ERG expression and PTEN protein loss were present in 28...
August 12, 2018: Journal of Cancer Research and Clinical Oncology
Mary K Dahmer, Michael W Quasney, Anil Sapru, Ginny Gildengorin, Martha A Q Curley, Michael A Matthay, Heidi Flori
OBJECTIVES: To test whether plasma interleukin-1 receptor antagonist or variants within the gene encoding for interleukin-1ra (IL1RN), or proteins involved in regulating interleukin-1β levels or interleukin-1β response, are associated with pediatric acute respiratory distress syndrome or outcomes in mechanically ventilated children with parenchymal lung disease. DESIGN: Prospective cohort study. SETTING: Twenty-two PICUs participating in the multisite clinical trial, Randomized Evaluation of Sedation Titration for Respiratory Failure (U01 HL086622)...
August 7, 2018: Pediatric Critical Care Medicine
Rajan Kharb, Lokesh S Shekhawat, Ram Pratap Beniwal, Triptish Bhatia, Smita N Deshpande
Background: The role of craving in alcohol dependence and its relationship with relapse has been studied widely in the past decade. The present study was undertaken to assess the role of craving in short-term relapse of patients seeking treatment for alcohol dependence and changes in craving score at the end of detoxification and at follow-up. Materials and Methods: A total of 34 male individuals with alcohol dependence (excluding comorbid drug dependence, organic or psychiatric disorder), after detoxification and discharge, consented...
July 2018: Indian Journal of Psychological Medicine
Elena Pezzolo, Unal Mutlu, Meike W Vernooij, Emmilia A Dowlatshahi, Paolo Gisondi, Giampiero Girolomoni, Tamar Nijsten, M Arfan Ikram, Marlies Wakkee
BACKGROUND: Based on increased cardio-metabolic comorbidities, inflammation and an overlap in genetics with Alzheimer's disease, psoriasis patients may be at risk for cognitive dysfunction and dementia. OBJECTIVE: To compare cognition, magnetic resonance imaging (MRI)-markers and dementia risk in psoriasis and non-psoriasis participants in the population-based Rotterdam Study. METHODS: We identified 318 psoriatic and 9678 non-psoriatic participants (mean age: 66...
August 6, 2018: Journal of the American Academy of Dermatology
Jorrit Jv de Vries, Anne B Chang, Catherine M Bonifant, Elizabeth Shevill, Julie M Marchant
BACKGROUND: People with cystic fibrosis (CF) and pancreatic insufficiency are at risk of a deficiency in fat-soluble vitamins, including vitamin A. Vitamin A deficiency predominantly causes eye and skin problems, while excessive levels of vitamin A can harm the respiratory and skeletal systems in children and interfere with the metabolism of other fat-soluble vitamins. Most CF centres administer vitamin A as supplements to reduce the frequency of vitamin A deficiency in people with CF and to improve clinical outcomes such as growth, although the recommended dose varies between different guidelines...
August 9, 2018: Cochrane Database of Systematic Reviews
Nicolas Duployez, Alice Marceau-Renaut, Céline Villenet, Arnaud Petit, Alexandra Rousseau, Stanley W K Ng, Agnès Paquet, Fanny Gonzales, Adeline Barthélémy, Frédéric Leprêtre, Nicolas Pottier, Brigitte Nelken, Gérard Michel, André Baruchel, Yves Bertrand, Guy Leverger, Hélène Lapillonne, Martin Figeac, John E Dick, Jean C Y Wang, Claude Preudhomme, Meyling Cheok
Despite constant progress in prognostic risk stratification, children with acute myeloid leukemia (AML) still relapse. Treatment failure and subsequent relapse have been attributed to acute myeloid leukemia-initiating cells (LSC), which harbor stem cell properties and are inherently chemoresistant. Although pediatric and adult AML represent two genetically very distinct diseases, we reasoned that common LSC gene expression programs are shared and consequently, the highly prognostic LSC17 signature score recently developed in adults may also be of clinical interest in childhood AML...
August 8, 2018: Leukemia: Official Journal of the Leukemia Society of America, Leukemia Research Fund, U.K
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