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https://www.readbyqxmd.com/read/29374233/gwas-of-epigenetic-aging-rates-in-blood-reveals-a-critical-role-for-tert
#1
Ake T Lu, Luting Xue, Elias L Salfati, Brian H Chen, Luigi Ferrucci, Daniel Levy, Roby Joehanes, Joanne M Murabito, Douglas P Kiel, Pei-Chien Tsai, Idil Yet, Jordana T Bell, Massimo Mangino, Toshiko Tanaka, Allan F McRae, Riccardo E Marioni, Peter M Visscher, Naomi R Wray, Ian J Deary, Morgan E Levine, Austin Quach, Themistocles Assimes, Philip S Tsao, Devin Absher, James D Stewart, Yun Li, Alex P Reiner, Lifang Hou, Andrea A Baccarelli, Eric A Whitsel, Abraham Aviv, Alexia Cardona, Felix R Day, Nicholas J Wareham, John R B Perry, Ken K Ong, Kenneth Raj, Kathryn L Lunetta, Steve Horvath
DNA methylation age is an accurate biomarker of chronological age and predicts lifespan, but its underlying molecular mechanisms are unknown. In this genome-wide association study of 9907 individuals, we find gene variants mapping to five loci associated with intrinsic epigenetic age acceleration (IEAA) and gene variants in three loci associated with extrinsic epigenetic age acceleration (EEAA). Mendelian randomization analysis suggests causal influences of menarche and menopause on IEAA and lipoproteins on IEAA and EEAA...
January 26, 2018: Nature Communications
https://www.readbyqxmd.com/read/29351100/sudden-unexpected-death-from-unusually-large-primary-cardiac-b-cell-lymphoma
#2
Julius Tikka, Samuli Vaittinen, Lasse Pakanen, Philippe Lunetta
Primary cardiac lymphomas represent approximately 1% to 2% of primary cardiac neoplasms and 5% of malignant cardiac neoplasms. Here we present a case of sudden unexpected death of a middle-aged male resulting from an unusually large cardiac B-cell lymphoma. The neoplasm infiltrated the myocardium of the right atrium and ventricle and, to a lesser extent, the wall of the left atrium and pulmonary trunk. Extensive infiltration of the heart by the primary cardiac lymphoma, combined with the complete lack of symptoms, makes this case unusual...
January 18, 2018: American Journal of Forensic Medicine and Pathology
https://www.readbyqxmd.com/read/29339359/genetic-variants-in-immune-related-pathways-and-breast-cancer-risk-in-african-american-women-in-the-amber-consortium
#3
Chi-Chen Hong, Lara E Sucheston-Campbell, Song Liu, Qiang Hu, Song Yao, Kathryn L Lunetta, Stephen A Haddad, Edward A Ruiz-Narváez, Jeannette T Bensen, Ting-Yuan David Cheng, Elisa V Bandera, Lynn A Rosenberg, Christopher A Haiman, Kelvin P Lee, Sharon S Evans, Scott I Abrams, Elizabeth A Repasky, Andrew F Olshan, Julie R Palmer, Christine B Ambrosone
BACKGROUND: Constitutional immunity shaped by exposure to endemic infectious diseases and parasitic worms in Sub-Saharan Africa may play a role in the etiology of breast cancer among African American (AA) women. METHODS: A total of 13,235 gene variants in 433 genes across 45 immune pathways were analyzed in the AMBER consortium among 3,663 breast cancer cases and 4,687 controls. Gene-based pathway analyses were conducted using the adaptive rank truncated product statistic for overall breast cancer risk, and risk by estrogen receptor (ER) status...
January 16, 2018: Cancer Epidemiology, Biomarkers & Prevention
https://www.readbyqxmd.com/read/29325096/genetic-determinants-of-circulating-estrogen-levels-and-evidence-of-a-causal-effect-of-estradiol-on-bone-density-in-men
#4
Anna L Eriksson, John R B Perry, Andrea D Coviello, Graciela E Delgado, Luigi Ferrucci, Andrew R Hoffman, Ilpo T Huhtaniemi, M Arfan Ikram, Magnus K Karlsson, Marcus E Kleber, Gail A Laughlin, Yongmei Liu, Mattias Lorentzon, Kathryn L Lunetta, Dan Mellström, Joanne M Murabito, Anna Murray, Maria Nethander, Carrie M Nielson, Inga Prokopenko, Stephen R Pye, Leslie J Raffel, Fernando Rivadeneira, Priya Srikanth, Lisette Stolk, Alexander Teumer, Thomas G Travison, André G Uitterlinden, Dhananjay Vaidya, Dirk Vanderschueren, Joseph M Zmuda, Winfried März, Eric S Orwoll, Pamela Ouyang, Liesbeth Vandenput, Frederick C W Wu, Frank H de Jong, Shalender Bhasin, Douglas P Kiel, Claes Ohlsson
Context: Serum estradiol (E2) and estrone (E1) levels exhibit substantial heritability. No genome-wide association study (GWAS) of estrogen levels has been performed in men of European origin. Objective: To investigate the genetic regulation of serum E2 and E1 in men. Design, setting and participants: GWAS in 11,097 men of European origin from nine epidemiological cohorts. Main Outcome Measures: Genetic determinants of serum E2 and E1 levels...
January 9, 2018: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/29274668/atxn1-intermediate-length-polyglutamine-expansions-are-associated-with-amyotrophic-lateral-sclerosis
#5
Serena Lattante, Maria Grazia Pomponi, Amelia Conte, Giuseppe Marangi, Giulia Bisogni, Agata Katia Patanella, Emiliana Meleo, Christian Lunetta, Nilo Riva, Lorena Mosca, Paola Carrera, Marco Bee, Marcella Zollino, Mario Sabatelli
To clarify the possible involvement of intermediate ATXN1 alleles as risk factors for amyotrophic lateral sclerosis (ALS), we tested ATXN1 in a cohort of 1146 Italian ALS patients, previously screened for variants in other ALS genes, and in 529 controls. We detected ATXN1 alleles with ≥33 polyglutamine repeats in 105 of 1146 patients (9.16%) and 29 of 529 controls (5.48%) (p = 0.003). The frequency of ATXN1 alleles with ≥33 polyglutamine repeats was particularly high in the group of ALS patients carrying the C9orf72 expansion (12/59, 20...
November 28, 2017: Neurobiology of Aging
https://www.readbyqxmd.com/read/29274321/genome-wide-association-study-of-alzheimer-s-disease-endophenotypes-at-prediagnosis-stages
#6
Jaeyoon Chung, Xulong Wang, Toru Maruyama, Yiyi Ma, Xiaoling Zhang, Jesse Mez, Richard Sherva, Haruko Takeyama, Kathryn L Lunetta, Lindsay A Farrer, Gyungah R Jun
INTRODUCTION: Genetic associations for endophenotypes of Alzheimer's disease (AD) in cognitive stages preceding AD have not been thoroughly evaluated. METHODS: We conducted genome-wide association studies for AD-related endophenotypes including hippocampal volume, logical memory scores, and cerebrospinal fluid Aβ42 and total/phosphorylated tau in cognitively normal (CN), mild cognitive impairment, and AD dementia subjects from the Alzheimer's Disease Neuroimaging Initiative study...
December 20, 2017: Alzheimer's & Dementia: the Journal of the Alzheimer's Association
https://www.readbyqxmd.com/read/29237688/heritability-of-atrial-fibrillation
#7
Lu-Chen Weng, Seung Hoan Choi, Derek Klarin, J Gustav Smith, Po-Ru Loh, Mark Chaffin, Carolina Roselli, Olivia L Hulme, Kathryn L Lunetta, Josée Dupuis, Emelia J Benjamin, Christopher Newton-Cheh, Sekar Kathiresan, Patrick T Ellinor, Steven A Lubitz
BACKGROUND: Previous reports have implicated multiple genetic loci associated with AF, but the contributions of genome-wide variation to AF susceptibility have not been quantified. METHODS AND RESULTS: We assessed the contribution of genome-wide single-nucleotide polymorphism variation to AF risk (single-nucleotide polymorphism heritability, h2g ) using data from 120 286 unrelated individuals of European ancestry (2987 with AF) in the population-based UK Biobank...
December 2017: Circulation. Cardiovascular Genetics
https://www.readbyqxmd.com/read/29138179/association-between-leukocyte-telomere-length-and-the-risk-of-incident-atrial-fibrillation-the-framingham-heart-study
#8
Laila Staerk, Biqi Wang, Kathryn L Lunetta, Robert H Helm, Darae Ko, Jason A Sherer, Patrick T Ellinor, Steven A Lubitz, David D McManus, Ramachandran S Vasan, Emelia J Benjamin, Ludovic Trinquart
BACKGROUND: Advancing age is a prominent risk factor for atrial fibrillation (AF). Shorter telomere length is a biomarker of biological aging, but the link between shorter telomere length and increased risk of AF remains unclear. We examined the association between shorter leukocyte telomere length (LTL) and incident AF. METHODS AND RESULTS: We included AF-free participants from the observational Framingham Heart Study Offspring cohort from 1995 to 1998, who had LTL measurements...
November 14, 2017: Journal of the American Heart Association
https://www.readbyqxmd.com/read/29135455/transcriptome-wide-association-study-of-inflammatory-biologic-age
#9
Honghuang Lin, Kathryn L Lunetta, Qiang Zhao, Jian Rong, Emelia J Benjamin, Michael M Mendelson, Roby Joehanes, Daniel Levy, Martin G Larson, Joanne M Murabito
Chronic low grade inflammation is a fundamental mechanism of aging. We estimated biologic age using nine biomarkers from diverse inflammatory pathways and we hypothesized that genes associated with inflammatory biological age would provide insights into human aging. In Framingham Offspring Study participants at examination 8 (2005 to 2008), we used the Klemera-Doubal method to estimate inflammatory biologic age and we computed the difference (∆Age) between biologic age and chronologic age. Gene expression in whole blood was measured using the Affymetrix Human Exon 1...
November 11, 2017: Aging
https://www.readbyqxmd.com/read/29131982/multimodal-mri-quantification-of-the-common-neurostructural-bases-within-the-ftd-als-continuum
#10
Chiara Crespi, Alessandra Dodich, Stefano F Cappa, Nicola Canessa, Sandro Iannaccone, Massimo Corbo, Christian Lunetta, Andrea Falini, Chiara Cerami
The continuum hypothesis linking the behavioral variant of frontotemporal dementia (bvFTD) and amyotrophic lateral sclerosis (ALS) is supported by clinical, pathological, genetic, and neuroimaging evidence. In the present multimodal magnetic resonance study, we characterized the site and extent of shared neurostructural changes in gray and white matter in 20 bvFTD and 19 ALS patients without dementia. We found an overlap of macrostructural and microstructural damage in both patient groups compared with healthy controls, involving the right orbital and the bilateral anterior cingulate cortices, the corticospinal tract and corpus callosum...
September 28, 2017: Neurobiology of Aging
https://www.readbyqxmd.com/read/29129827/genetic-predisposition-clinical-risk-factor-burden-and-lifetime-risk-of-atrial-fibrillation
#11
Lu-Chen Weng, Sarah R Preis, Olivia L Hulme, Martin G Larson, Seung Hoan Choi, Biqi Wang, Ludovic Trinquart, David D McManus, Laila Staerk, Honghuang Lin, Kathryn L Lunetta, Patrick T Ellinor, Emelia J Benjamin, Steven A Lubitz
Background -The long-term probability of developing atrial fibrillation (AF) considering genetic predisposition and clinical risk factor burden is unknown. Methods -We estimated lifetime risk of AF in individuals from the community-based Framingham Heart Study. Polygenic risk for AF was derived using a score of approximately 1,000 AF-associated single nucleotide polymorphisms. Clinical risk factor burden was calculated for each individual using a validated risk score for incident AF comprised of height, weight, systolic and diastolic blood pressure, current smoking status, antihypertensive medication use, diabetes, history of myocardial infarction, and history of heart failure...
November 12, 2017: Circulation
https://www.readbyqxmd.com/read/29112599/genetic-variants-associated-with-earlier-age-at-menopause-increase-the-risk-of-cardiovascular-events-in-women
#12
Chloé Sarnowski, Maryam Kavousi, Steve Isaacs, Ellen W Demerath, Linda Broer, Taulant Muka, Oscar H Franco, Mohammad Arfan Ikram, André Uitterlinden, Nora Franceschini, Kathryn L Lunetta, Joanne M Murabito
OBJECTIVE: To better understand the relationship between cardiovascular disease risk and age-at-natural menopause using genetic data. METHODS: Early menopause is associated with cardiovascular disease risk. We constructed a genetic risk score comprising 56 age-at-natural menopause decreasing alleles in men and women from the Framingham Heart Study, the Atherosclerosis Risk in Communities Study, and the Rotterdam Study. If the genetic predisposition to earlier age-at-natural menopause is associated with increased cardiovascular disease risk, it is reasonable to ask whether the risk is shared by men carrying the alleles, despite not experiencing menopause...
November 6, 2017: Menopause: the Journal of the North American Menopause Society
https://www.readbyqxmd.com/read/29063790/trauma-and-amyotrophic-lateral-sclerosis-a-european-population-based-case-control-study-from-the-eurals-consortium
#13
Elisabetta Pupillo, Marco Poloni, Elisa Bianchi, Giorgia Giussani, Giancarlo Logroscino, Stefano Zoccolella, Adriano Chiò, Andrea Calvo, Massimo Corbo, Christian Lunetta, Benoit Marin, Douglas Mitchell, Orla Hardiman, James Rooney, Zorica Stevic, Monica Bandettini di Poggio, Massimiliano Filosto, Maria Sofia Cotelli, Michele Perini, Nilo Riva, Lucio Tremolizzo, Eugenio Vitelli, Danira Damiani, Ettore Beghi
OBJECTIVES: To assess the association between amyotrophic lateral sclerosis (ALS) and previous traumatic events, age of trauma, and site of injury. METHODS: A population-based case-control study was performed in five European countries (Italy, Ireland, France, United Kingdom, Serbia). Newly diagnosed ALS patients and matched controls were interviewed to collect relevant demographic factors and exposures. Key clinical features at diagnosis were collected in ALS patients...
October 24, 2017: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
https://www.readbyqxmd.com/read/28977464/measures-of-biologic-age-in-a-community-sample-predict-mortality-and-age-related-disease-the-framingham-offspring-study
#14
Joanne M Murabito, Qiang Zhao, Martin G Larson, Jian Rong, Honghuang Lin, Emelia J Benjamin, Daniel Levy, Kathryn L Lunetta
Background: We tested the association of biologic age (BA) measures constructed from different types of biomarkers with mortality and disease in a community-based sample. Methods: In Framingham Offspring participants at Exams 7 (1998-2001, mean age 62 ± 10) and 8 (2005-2008, mean age 67 ± 9), we used the Klemera-Doubal method to estimate clinical BA and inflammatory BA and computed the difference (∆age) between BA and CA. Clinical ∆age was computed at Exam 2 (1979-1983, mean age 45 ± 10)...
July 25, 2017: Journals of Gerontology. Series A, Biological Sciences and Medical Sciences
https://www.readbyqxmd.com/read/28974514/diminished-prrx1-expression-is-associated-with-increased-risk-of-atrial-fibrillation-and-shortening-of-the-cardiac-action-potential
#15
Nathan R Tucker, Elena V Dolmatova, Honghuang Lin, Rebecca R Cooper, Jiangchuan Ye, William J Hucker, Heather S Jameson, Victoria A Parsons, Lu-Chen Weng, Robert W Mills, Moritz F Sinner, Maxim Imakaev, Jordan Leyton-Mange, Gus Vlahakes, Emelia J Benjamin, Kathryn L Lunetta, Steven A Lubitz, Leonid Mirny, David J Milan, Patrick T Ellinor
BACKGROUND: Atrial fibrillation (AF) affects over 33 million individuals worldwide. Genome-wide association studies have identified at least 30 AF loci, but the mechanisms through which individual variants lead to altered disease risk have remained unclear for the majority of these loci. At the 1q24 locus, we hypothesized that the transcription factor PRRX1 could be a strong candidate gene as it is expressed in the pulmonary veins, a source of AF in many individuals. We sought to identify the molecular mechanism, whereby variation at 1q24 may lead to AF susceptibility...
October 2017: Circulation. Cardiovascular Genetics
https://www.readbyqxmd.com/read/28967584/telemedicine-for-facio-scapulo-humeral-muscular-dystrophy-a-multidisciplinary-approach-to-improve-quality-of-life-and-reduce-hospitalization-rate
#16
Simona Portaro, Rocco Salvatore Calabrò, Placido Bramanti, Giuseppe Silvestri, Michele Torrisi, Valeria Conti-Nibali, Santina Caliri, Christian Lunetta, Bernardo Alagna, Antonino Naro, Alessia Bramanti
BACKGROUND: Facio-Scapulo-Humeral Muscular Dystrophy (FSHD) is an autosomal dominant inherited disorder characterized by a variable and asymmetric involvement of facial, trunk, upper and lower extremity muscles. Although respiratory weakness is a relatively unknown feature of FSHD, it is not rare. Telemedicine has been used in a variety of health care fields, but only recently, with the advent of sophisticated technology, its interest among health professionals became evident, even in such diseases...
September 21, 2017: Disability and Health Journal
https://www.readbyqxmd.com/read/28914354/comorbidity-of-dementia-with-amyotrophic-lateral-sclerosis-als-insights-from-a-large-multicenter-italian-cohort
#17
Francesca Trojsi, Mattia Siciliano, Cinzia Femiano, Gabriella Santangelo, Christian Lunetta, Andrea Calvo, Cristina Moglia, Kalliopi Marinou, Nicola Ticozzi, Gianluca Drago Ferrante, Carlo Scialò, Gianni Sorarù, Amelia Conte, Yuri M Falzone, Rosanna Tortelli, Massimo Russo, Valeria Ada Sansone, Adriano Chiò, Gabriele Mora, Barbara Poletti, Paolo Volanti, Claudia Caponnetto, Giorgia Querin, Mario Sabatelli, Nilo Riva, Giancarlo Logroscino, Sonia Messina, Antonio Fasano, Maria Rosaria Monsurrò, Gioacchino Tedeschi, Jessica Mandrioli
To assess the association, at diagnosis, between amyotrophic lateral sclerosis (ALS) and dementia in a large cohort of well-characterized Italian patients. We investigated the phenotypic profile of 1638 incident patients with definite, probable or laboratory-supported probable ALS, diagnosed from January 2009 to December 2013 in 13 Italian Referral Centers, located in 10 Italian Regions, and classified in two independent subsamples accounting for presence or not of dementia. The collected ALS features, including survival and other follow-up data, were compared between the two subgroups using a one-way analysis of variance and Chi-square test, as appropriate, logistic regression models and Kaplan-Meier survival analysis...
November 2017: Journal of Neurology
https://www.readbyqxmd.com/read/28900195/genetic-interactions-with-age-sex-body-mass-index-and-hypertension-in-relation-to-atrial-fibrillation-the-afgen-consortium
#18
Lu-Chen Weng, Kathryn L Lunetta, Martina Müller-Nurasyid, Albert Vernon Smith, Sébastien Thériault, Peter E Weeke, John Barnard, Joshua C Bis, Leo-Pekka Lyytikäinen, Marcus E Kleber, Andreas Martinsson, Henry J Lin, Michiel Rienstra, Stella Trompet, Bouwe P Krijthe, Marcus Dörr, Derek Klarin, Daniel I Chasman, Moritz F Sinner, Melanie Waldenberger, Lenore J Launer, Tamara B Harris, Elsayed Z Soliman, Alvaro Alonso, Guillaume Paré, Pedro L Teixeira, Joshua C Denny, M Benjamin Shoemaker, David R Van Wagoner, Jonathan D Smith, Bruce M Psaty, Nona Sotoodehnia, Kent D Taylor, Mika Kähönen, Kjell Nikus, Graciela E Delgado, Olle Melander, Gunnar Engström, Jie Yao, Xiuqing Guo, Ingrid E Christophersen, Patrick T Ellinor, Bastiaan Geelhoed, Niek Verweij, Peter Macfarlane, Ian Ford, Jan Heeringa, Oscar H Franco, André G Uitterlinden, Uwe Völker, Alexander Teumer, Lynda M Rose, Stefan Kääb, Vilmundur Gudnason, Dan E Arking, David Conen, Dan M Roden, Mina K Chung, Susan R Heckbert, Emelia J Benjamin, Terho Lehtimäki, Winfried März, J Gustav Smith, Jerome I Rotter, Pim van der Harst, J Wouter Jukema, Bruno H Stricker, Stephan B Felix, Christine M Albert, Steven A Lubitz
It is unclear whether genetic markers interact with risk factors to influence atrial fibrillation (AF) risk. We performed genome-wide interaction analyses between genetic variants and age, sex, hypertension, and body mass index in the AFGen Consortium. Study-specific results were combined using meta-analysis (88,383 individuals of European descent, including 7,292 with AF). Variants with nominal interaction associations in the discovery analysis were tested for association in four independent studies (131,441 individuals, including 5,722 with AF)...
September 12, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28859526/increase-in-dna-methylation-in-patients-with-amyotrophic-lateral-sclerosis-carriers-of-not-fully-penetrant-sod1-mutations
#19
Fabio Coppedè, Andrea Stoccoro, Lorena Mosca, Roberta Gallo, Claudia Tarlarini, Christian Lunetta, Alessandro Marocchi, Lucia Migliore, Silvana Penco
OBJECTIVE: More than 180 different superoxide dismutase 1 (SOD1) mutations have been described to date in amyotrophic lateral sclerosis (ALS) patients, including not completely penetrant ones leading to phenotypic heterogeneity among carriers. We collected DNA samples from five ALS families with not fully penetrant SOD1 mutations (p.Asn65Ser, p.Gly72Ser, p.Gly93Asp, and p.Gly130_Glu133del) searching for epigenetic differences among ALS patients, asymptomatic/paucisymptomatic carriers and non-carrier family members...
September 1, 2017: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
https://www.readbyqxmd.com/read/28822984/tbk1-mutations-in-italian-patients-with-amyotrophic-lateral-sclerosis-genetic-and-functional-characterisation
#20
Laura Pozzi, Fabiola Valenza, Lorena Mosca, Andrea Dal Mas, Teuta Domi, Alessandro Romano, Claudia Tarlarini, Yuri Matteo Falzone, Lucio Tremolizzo, Gianni Sorarù, Federica Cerri, Pilar M Ferraro, Silvia Basaia, Federica Agosta, Raffaella Fazio, Mauro Comola, Giancarlo Comi, Maurizio Ferrari, Angelo Quattrini, Christian Lunetta, Silvana Penco, Dario Bonanomi, Paola Carrera, Nilo Riva
BACKGROUND: TANK-binding kinase 1 (TBK1) gene has been recently identified as a causative gene of amyotrophic lateral sclerosis (ALS). METHODS: We sequenced the TBK1 gene in a cohort of 154 Italian patients with ALS with unclear genetic aetiology. We subsequently assessed the pathogenic potential of novel identified TBK1 variants using functional in vitro studies: expression, targeting and activity were evaluated in patient-derived fibroblasts and in cells transfected with mutated-TBK1 plasmids...
October 2017: Journal of Neurology, Neurosurgery, and Psychiatry
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