ECTS2013 Poster Presentations Genetics (17 abstracts)
Discovery and replication of several loci significantly associated with lean body mass: a large meta-analysis of genome wide association studies (GWAS) from the ‘charge’ and ‘gefos’ consortia
Douglas P Kiel 1 , Laura M Yerges-Armstrong 2 , Yi-Hsiang Hsu 1 , Lisette Stolk 3, , David Karasik 1 , Ruth J F Loos 4, , Vilmundar Gudnason 6, , Albert Smith 6, , Jeffrey R O’Connell 2 , Amish Fu 2 , Mao Fu 2 , Elizabeth A Streeten 2, , Jane A Cauley 8 , John A Robbins 9 , Bruce Psaty 11 , Toby Johnson 12, , Zoltán Kutalik 12, , Braxton D Mitchell 2 , Gregory Livshits 13, , Tamara B Harris 15 , Claes Ohlsson 16 & M Carola Zillikens 17,
1Hebrew SeniorLife and Harvard Medical School, Boston, Massachusetts, USA; 2Division of Endocrinology, Program in Personalized and Genomic Medicine, Department of Medicine, Diabetes and Nutrition, University of Maryland School of Medicine, Baltimore, Maryland, USA; 3Department of Internal Medicine, Erasmus MC, Rotterdam, The Netherlands; 4MRC Epidemiology Unit, Addenbrooke’s Hospital, Institute of Metabolic Science, Cambridge, UK; 5Mount Sinai School of Medicine, The Charles Bronfman Institute of Personalized Medicine, New York, New York, USA; 6Icelandic Heart Association, Kopavogur, Iceland; 7Faculty of Medicine, University of Iceland, Reykjavik, Iceland; 8Department of Epidemiology Graduate School of Public Health University of Pittsburgh, Pittsburgh, Pennsylvania, USA;9Department of Medicine, University California at Davis Medical Center, Sacramento, California, USA; 10Geriatric Research and Education Clinical Center (GRECC), Veterans Administration Medical Center, Baltimore, Maryland, USA; 11Cardiovascular Health Research Unit, Departments of Medicine, Epidemiology, and Health Services, Group Health Research Institute, Group Health Cooperative, University of Washington, Seattle, Washington, USA; 12Department of Medical Genetics, University of Lausanne, Lausanne, Switzerland; 13Department of Anatomy and Anthropology, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel; 14Department of Twin Research and Genetic Epidemiology, King’s College London, St Thomas’ Campus, London, UK; 15Intramural Research Program, NIA, Bethesda, Maryland, USA; 16Department of Internal Medicine, Institute of Medicine, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden; 17Department of Internal Medicine, Erasmus MC, Rotterdam, The Netherlands; 18Netherlands Genomics Initiative (NGI)-sponsored Netherlands Consortium for Healthy Aging, Leiden, The Netherlands; 19Swiss Institute of Bioinformatics, Lausanne, Switzerland.
Introduction: The creatine kinase (CK) is a dimeric enzyme, involved in energetical metabolism. It is present in many tissues, but higher concentration in skeletal and cardiac muscle.
Therefore, conditions that involve muscle tissue may increase this serum enzyme. Such enzyme elevation is usually observed in inflammatory myopathies and others autoimmune diseases.
Sometimes some elevation in CK is not fully understood out off these contexts, especially in absence of characteristical symptoms in muscle: weakness, myalgia, and fatigue.
Objectives: We study patients with or without symptoms having raising CK found in laboratory tests.
Materials and methods: Were assessed patients at our Rheumatology Unit, with CK values greater than minimum of three times of the normal value. Diagnostic procedures performed: interrogatiory, exhaustive physical examination (muscle strength, muscle tone, and OTR), laboratory tests: CRP, ESR, protein electrophoresis, ANA and others auntoantibodies, according to the clinical context (Jo, MI); TSH, transaminases, EMG, muscle biopsy, immune tagging (dystrophin, sarcoglcans, and calpain) according to appropriate procedure.
Isolated increased of the enzyme, required more intensive investigations to rule out other causes of elevations or situations that raise CK (heart attack, rabdomiolisis, iatrogenic, toxics, endocrine: hypo/hyperthyroidism, Cushing’s diseases, hypoparathydoidism, infectious myopathy, myotonias, storage diseases, glycogenosis (Pompe disease and McArdle disease), mitochondrial myopathy, and neuromuscular (ELA, mutations of gen cav-3).
Results: Of all patients (n 128) , of both genders with CK elevations we found a dominant distribution of PM/DM (78%), among others collagen diseases (9.4%), such as RA, SEL, SSc, vasculitis, sarcoidosis, and sudeck. Also significant increases medicated patients with toxic effects (4.7%: statins, zidovudine), endocrine (3.9%): hypo/hyperthyroidism, Cushing’s diseases, hypoparathydoidism, vitamin D deficiency, muscle dystrophy (2.3%): steinert, dystrophinopathy, Nieman Pick, and amyotrophic lateral sclerosis. Patients in whom was no probable cause was found for the enzyme elevations (1.6% idiopathic).
Conclusions: There are many diseases that can generate elevations of CK , many of which are accompanied by clear symptomatology, but others less do so.
The challenge is getting to elucidate the cause of the enzymatic elevations not covered in the usual diagnostic or included within the group of idiopathic hypeckemia.
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