Research Topics
Genomes and GenesSpecies | Florian KronenbergSummaryAffiliation: University of Innsbruck Country: Austria Publications
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Publications
Apolipoprotein(a) isoform-specific changes of lipoprotein(a) after kidney transplantationFlorian Kronenberg
Institute of Medical Biology and Human Genetics, University of Innsbruck, Schopfstrasse 41, A 6020 Innsbruck, Austria
Eur J Hum Genet 11:693-9. 2003..This provides evidence for an interaction of apo(a) genetic variability and kidney function on Lp(a) concentrations...
Lipoprotein(a) in stored plasma samples and the ravages of time. Why epidemiological studies might failF Kronenberg
Institute of Medical Biology and Human Genetics, University of Innsbruck Austria
Arterioscler Thromb Vasc Biol 16:1568-72. 1996..The negative results of some prospective studies with retrospective measurement of Lp(a) may be caused by such an artifact...
Apolipoprotein A-IV serum concentrations are elevated in patients with mild and moderate renal failureFlorian Kronenberg
Institute of Medical Biology and Human Genetics, University of Innsbruck, Innsbruck, Austria
J Am Soc Nephrol 13:461-9. 2002..011). The data clearly show that the anti-atherogenic apoA-IV starts to increase during the earliest phases of renal insufficiency, which makes apoA-IV an early marker of renal impairment...
Segregation analysis of HDL cholesterol in the NHLBI Family Heart Study and in Utah pedigreesFlorian Kronenberg
Department of Cardiovascular Genetics, University of Utah, Salt Lake City, Utah, USA
Eur J Hum Genet 10:367-74. 2002..Instead we found some evidence for the segregation of an allele associated with high HDL-C. d..
A genome scan for loci influencing anti-atherogenic serum bilirubin levelsFlorian Kronenberg
Cardiovascular Genetics, University of Utah, Salt Lake City, Utah, USA
Eur J Hum Genet 10:539-46. 2002..These results provide evidence that loci influencing bilirubin variation exist on chromosomes 2q34-37, 9q21, 10q25-26, and 18q12 and confirms the association of low bilirubin levels with coronary artery disease in males...
Prevalence and progression of peripheral arterial calcifications in patients with ESRDFlorian Kronenberg
Institute of Medical Biology and Human Genetics, University of Innsbruck, Austria
Am J Kidney Dis 41:140-8. 2003..However, prevalence and progression, as well as contributing factors, never were investigated in an unselected incident cohort of dialysis patients...
Lipoprotein(a)- and low-density lipoprotein-derived cholesterol in nephrotic syndrome: Impact on lipid-lowering therapy?Florian Kronenberg
Department of Medical Biology and Human Genetics, Medical University of Innsbruck, Innsbruck, Austria
Kidney Int 66:348-54. 2004....
Epidemiology, pathophysiology and therapeutic implications of lipoprotein(a) in kidney diseaseFlorian Kronenberg
Department of Medical Biology and Human Genetics, Innsbruck Medical University, Schöpfstr 41, A 6020 Innsbruck, Austria
Expert Rev Cardiovasc Ther 2:729-43. 2004..Finally, the limited interventional strategies available to lower lipoprotein(a) are considered...
Dyslipidemia and nephrotic syndrome: recent advancesFlorian Kronenberg
Division of Genetic Epidemiology, Department of Medical Genetics, Molecular and Clinical Pharmacology, Innsbruck Medical University, Innsbruck, Austria
J Ren Nutr 15:195-203. 2005..Because Lp(a) is an LDL-like particle that is usually included in the measured or calculated LDL cholesterol fraction, the influence of the extremely high Lp(a) levels in NS on the measurement of LDL cholesterol is discussed...
[Genetic-epidemiological studies of apolipoprotein(a) polymorphism and its significance in nephrological diseases and type I diabetes mellitus]F Kronenberg
Institut fur Medizinische Biologie und Humangenetik, Universitat Innsbruck, Schopfstrasse 41, A 6020 Innsbruck
Acta Med Austriaca 26:142-7. 1999..It furthermore discusses the observed association between the low molecular weight apolipoprotein(a) phenotype and Type I diabetes mellitus...
Influence of leisure time physical activity and television watching on atherosclerosis risk factors in the NHLBI Family Heart StudyF Kronenberg
Cardiovascular Genetics, University of Utah, Salt Lake City, USA
Atherosclerosis 153:433-43. 2000..Decreasing the amount of TV watching might be effective as a first step in reducing atherosclerosis risk factors, especially overweight...
LDL-unbound apolipoprotein(a) and carotid atherosclerosis in hemodialysis patientsF Kronenberg
Institute of Medical Biology and Human Genetics, University of Innsbruck, Austria
Clin Genet 52:377-86. 1997..However, this does not mean that "free", mainly disintegrated, apo(a) has no atherogenic potential...
Homocysteine, lipoprotein(a) and fibrinogen: metabolic risk factors for cardiovascular complications of chronic renal diseaseF Kronenberg
Institute of Medical Biology and Human Genetics, University of Innsbruck, Austria
Curr Opin Nephrol Hypertens 7:271-8. 1998..This review discusses these parameters in such patients in relation to the occurrence of atherosclerotic complications...
Influence of hematocrit on the measurement of lipoproteins demonstrated by the example of lipoprotein(a)F Kronenberg
Institute of Medical Biology and Human Genetics, University of Innsbruck, and Department of Neurology, Clinic of Internal Medicine, Innsbruck University Hospital, Austria
Kidney Int 54:1385-9. 1998..The aim of our experiments was to evaluate the extent of differences between whole blood and plasma concentrations, taking as an example lipoprotein(a) [Lp(a)] in hemodialysis patients with documented decreased hematocrit values...
The low molecular weight apo(a) phenotype is an independent predictor for coronary artery disease in hemodialysis patients: a prospective follow-upF Kronenberg
Institute of Medical Biology and Human Genetics, University of Innsbruck, Austria
J Am Soc Nephrol 10:1027-36. 1999..Apo(a) phenotyping might be helpful to identify hemodialysis patients at high risk for coronary artery disease...
Dopamine D4 receptor polymorphism and idiopathic Parkinson's diseaseM F Kronenberg
Department of Neurology, Innsbruck University Hospital, Austria
Eur J Hum Genet 7:397-400. 1999..Therefore, the dopamine D4 receptor polymorphism does not confer genetic susceptibility to IPD and cannot explain the decreased novelty seeking in IPD patients...
Role of lipoprotein(a) and apolipoprotein(a) phenotype in atherogenesis: prospective results from the Bruneck studyF Kronenberg
Institute of Medical Biology and Human Genetics, University of Innsbruck, Austria
Circulation 100:1154-60. 1999..Epidemiological studies may contribute to assessment of the relevance of these findings in the general population...
Low apolipoprotein A-IV plasma concentrations in men with coronary artery diseaseF Kronenberg
Institute of Medical Biology and Human Genetics, University of Innsbruck, Austria
J Am Coll Cardiol 36:751-7. 2000..The objective of this study was to evaluate the relation between apolipoprotein A-IV (apoA-IV) plasma concentrations and coronary artery disease (CAD)...
Lipoprotein(a) serum concentrations and apolipoprotein(a) phenotypes in mild and moderate renal failureF Kronenberg
Institute of Medical Biology and Human Genetics, University of Innsbruck, Austria
J Am Soc Nephrol 11:105-15. 2000..This change is found only in subjects with HMW apo(a) phenotypes, however...
INSIG2 polymorphism is neither associated with BMI nor with phenotypes of lipoprotein metabolismEva Boes
Division of Genetic Epidemiology, Department of Medical Genetics, Molecular and Clinical Pharmacology, Innsbruck Medical University, Innsbruck, Austria
Obesity (Silver Spring) 16:827-33. 2008....
Sex-specific association of the putative fructose transporter SLC2A9 variants with uric acid levels is modified by BMIAnita Brandstätter
Department of Medical Genetics, Molecular and ClinicalPharmacology, Division of Genetic Epidemiology, Innsbruck Medical University, Innsbruck, Austria
Diabetes Care 31:1662-7. 2008..The aim of the present study was to examine the association of four single nucleotide polymorphisms within this gene with uric acid levels and to determine whether this association is modified by obesity...
Role of the kidney in the metabolism of apolipoprotein A-IV: influence of the type of proteinuriaArno Lingenhel
Division of Genetic Epidemiology, Department of Medical Genetics, Molecular and Clinical Pharmacology, Innsbruck Medical University, Innsbruck, Austria
J Lipid Res 47:2071-9. 2006..From this investigation of apoA-IV in urine as well as earlier immunohistochemical studies, we conclude that apoA-IV is filtered through the normal glomerulus and is subsequently reabsorbed mainly by proximal tubular cells...
Sex-specific association of time-varying haemoglobin values with mortality in incident dialysis patientsGisela Sturm
Division of Genetic Epidemiology, Department of Medical Genetics, Molecular and Clinical Pharmacology, Innsbruck Medical University, Schöpfstr 41, Innsbruck, Austria
Nephrol Dial Transplant 25:2715-22. 2010..Previous studies in dialysis patients showed an association between haemoglobin levels and all-cause mortality, however, without addressing sex differences...
Sex and age interaction with genetic association of atherogenic uric acid concentrationsAnita Brandstätter
Division of Genetic Epidemiology, Department of Medical Genetics, Molecular and Clinical Pharmacology, Innsbruck Medical University, Schöpfstr 41, A 6020 Innsbruck, Austria
Atherosclerosis 210:474-8. 2010..High serum uric acid levels are associated with gout, atherosclerosis and cardiovascular disease. Three genes (SLC2A9, ABCG2, and SLC17A3) were reported to be involved in the regulation of uric acid levels...
Serum bilirubin levels, UGT1A1 polymorphisms and risk for coronary artery diseaseArno Lingenhel
Division of Genetic Epidemiology, Department of Medical Genetics, Molecular and Clinical Pharmacology, Innsbruck Medical University, Schopfstrasse 41, A 6020 Innsbruck, Austria
Exp Gerontol 43:1102-7. 2008..1mg/dl increase of bilirubin. These results indicate that it is rather decreased bilirubin levels in general than the changes in the genetic variation of this gene that increase the risk for CAD...
Uric acid as a risk factor for progression of non-diabetic chronic kidney disease? The Mild to Moderate Kidney Disease (MMKD) StudyGisela Sturm
Department of Medical Genetics, Molecular and Clinical Pharmacology, Innsbruck Medical University, Innsbruck, Austria
Exp Gerontol 43:347-52. 2008..In summary, our prospective 7 year follow-up study in patients with non-diabetic primary CKD did not support uric acid as an independent predictor for CKD progression...
The apolipoprotein(a) size polymorphism is associated with nephrotic syndromeFlorian Kronenberg
Institute of Medical Biology and Human Genetics, University of Innsbruck, Innsbruck
Kidney Int 65:606-12. 2004..The atherogenic serum lipoprotein(a) [Lp(a)] is significantly elevated in patients with nephrotic syndrome. The underlying mechanism for this elevation is poorly understood...
Cellular aging reflected by leukocyte telomere length predicts advanced atherosclerosis and cardiovascular disease riskPeter Willeit
Department of Neurology, Innsbruck Medical University, Innsbruck, Austria
Arterioscler Thromb Vasc Biol 30:1649-56. 2010..To determine the association between leukocyte telomere length (TL) and atherosclerosis and its clinical sequelae stroke and myocardial infarction...
Apolipoprotein A-IV predicts progression of chronic kidney disease: the mild to moderate kidney disease studyEva Boes
Division of Genetic Epidemiology, Department of Medical Genetics, Molecular and Clinical Pharmacology, Innsbruck Medical University, Schopfstrasse 41, A 6020 Innsbruck, Austria
J Am Soc Nephrol 17:528-36. 2006..In summary, this prospective study in patients with nondiabetic primary kidney disease demonstrated that apolipoprotein A-IV concentration is a novel independent predictor of progression...
Association of the melanocortin-4 receptor V103I polymorphism with dietary intake in severely obese personsMichaela Pichler
Division of Genetic Epidemiology, Department of Medical Genetics, Molecular and Clinical Pharmacology, Innsbruck Medical University, Innsbruck, Austria
Am J Clin Nutr 88:797-800. 2008..A recent study found an association of the MC4R 103I variant with carbohydrate intake, which may mediate some of the association of this variant with leanness...
Telomere length and risk of incident cancer and cancer mortalityPeter Willeit
Department of Neurology, Innsbruck Medical University, Anichstrasse 35, 6020 Innsbruck, Austria
JAMA 304:69-75. 2010..Telomeres are essential to preserve the integrity of the genome. Critically short telomeres lead to replicative cell senescence and chromosomal instability and may thereby increase cancer risk...
Afamin is a novel human vitamin E-binding glycoprotein characterization and in vitro expressionLidija Jerkovic
Division of Genetic Epidemiology, Department of Medical Genetics, Clinical and Molecular Pharmacology, Innsbruck Medical University, Schoepfstrasse 41, A 6020 Innsbruck, Austria
J Proteome Res 4:889-99. 2005..The vitamin E association of afamin in follicular fluid was directly demonstrated by gel filtration chromatography and immunoprecipitation which complements the in vitro findings for purified native and recombinant afamin...
Candidate gene sequencing of SLC11A2 and TMPRSS6 in a family with severe anaemia: common SNPs, rare haplotypes, no causative mutationAnita Kloss-Brandstätter
Division of Genetic Epidemiology, Department of Medical Genetics, Molecular and Clinical Pharmacology, Innsbruck Medical University, Innsbruck, Austria
PLoS ONE 7:e35015. 2012..After excluding all known causes responsible for iron deficiency anaemia we searched for mutations in SLC11A2 and TMPRSS6 that could explain the severe anaemia in these children...
Cigarette smoking and chronic allograft nephropathyNina Zitt
Clinical Division of Nephrology, Innsbruck Medical University, Anichstrasse 35, A 6020 Innsbruck, Austria
Nephrol Dial Transplant 22:3034-9. 2007..Smoking has been demonstrated to decrease patient and graft survival after kidney transplantation. Data on histological changes associated with smoking in renal allografts are lacking...
Genetic evidence for a role of adiponutrin in the metabolism of apolipoprotein B-containing lipoproteinsBarbara Kollerits
Division of Genetic Epidemiology, Department of Medical Genetics, Molecular and Clinical Pharmacology, Innsbruck Medical University, Innsbruck, Austria
Hum Mol Genet 18:4669-76. 2009..We did not observe clear evidence for associations with HDL cholesterol or triglyceride concentrations. In conclusion, our study suggests that adiponutrin is involved in the metabolism of apoB-containing lipoproteins...
Association between the UGT1A1 TA-repeat polymorphism and bilirubin concentration in patients with intermittent claudication: results from the CAVASIC studyBarbara Rantner
Division of Genetic Epidemiology, Department of Medical Genetics, Molecular and Clinical Pharmacology, Innsbruck Medical University, Innsbruck, Austria
Clin Chem 54:851-7. 2008..In a case-control study, we investigated the association between the UGT1A1 polymorphism, bilirubin concentration, and intermittent claudication...
Proteinuria and hemoglobin levels in patients with primary glomerular diseaseNina Mähr
Division of Nephrology, Department of Medical Genetics, Molecular and Clinical Pharmacology, Innsbruck Medical University, Innsbruck, Austria
Am J Kidney Dis 46:424-31. 2005..Anemia in association with nephrotic syndrome has been described in small patient series and case reports. Whether nephrotic patients develop anemia has not been formally investigated...
Genetic-epidemiological evidence on genes associated with HDL cholesterol levels: a systematic in-depth reviewEva Boes
Division of Genetic Epidemiology, Department of Medical Genetics, Molecular and Clinical Pharmacology, Innsbruck Medical University, Innsbruck, Austria
Exp Gerontol 44:136-60. 2009..The resulting findings will probably result in a re-drawing and extension of the involved metabolic pathways of HDLC metabolism...
Intermittent claudication in the Erfurt Male Cohort (ERFORT) Study: its determinants and the impact on mortality. A population-based prospective cohort study with 30 years of follow-upBarbara Kollerits
Division of Genetic Epidemiology, Department of Medical Genetics, Molecular and Clinical Pharmacology, Innsbruck Medical University, Schöpfstr 41, A 6020 Innsbruck, Austria
Atherosclerosis 198:214-22. 2008....
eCOMPAGT integrates mtDNA: import, validation and export of mitochondrial DNA profiles for population genetics, tumour dynamics and genotype-phenotype association studiesHansi Weissensteiner
Division of Genetic Epidemiology, Department of Medical Genetics, Molecular and Clinical Pharmacology, Innsbruck Medical University, Innsbruck, Austria
BMC Bioinformatics 11:122. 2010..The recent past has uncovered severe problems with mtDNA genotyping, not only due to the genotyping method itself, but mainly to the post-lab transcription, storage and report of mtDNA genotypes...
An optimized procedure for the design and evaluation of Ecotilling assaysStefan Coassin
Division of Genetic Epidemiology, Department of Medical Genetics, Molecular and Clinical Pharmacology, Innsbruck Medical University, Innsbruck, Austria
BMC Genomics 9:510. 2008....
A common variant in the adiponutrin gene influences liver enzyme valuesBarbara Kollerits
Division of Genetic Epidemiology, Department of Medical Genetics, Molecular and Clinical Pharmacology, Innsbruck Medical University, , A 6020 Innsbruck, Austria
J Med Genet 47:116-9. 2010..Conclusion The highly significant associations of this transversion polymorphism within the adiponutrin gene with increased ALT and AST concentrations support a role for adiponutrin as a susceptibility gene for hepatic dysfunction...
Lost in the space of bioinformatic tools: a constantly updated survival guide for genetic epidemiology. The GenEpi ToolboxStefan Coassin
Division of Genetic Epidemiology, Department of Medical Genetics, Molecular and Clinical Pharmacology, Innsbruck Medical University, Schöpfstr 41, A 6020 Innsbruck, Austria
Atherosclerosis 209:321-35. 2010..i-med.ac.at) and can help to get a glimpse at the potential functional relevance of both large genetic regions and single nucleotide mutations which might help to prioritize the next steps...
Influences on the reduction of relative telomere length over 10 years in the population-based Bruneck Study: introduction of a well-controlled high-throughput assaySilvia Ehrlenbach
Division of Genetic Epidemiology, Department of Medical Genetics, Molecular and Clinical Pharmacology, Innsbruck Medical University, Innsbruck, Austria
Int J Epidemiol 38:1725-34. 2009..Short telomeres are linked to age-associated diseases and cancer. Our aim was to determine the decrease rate of relative telomere length (RTL) over 10 years and whether this rate was influenced by age, sex and smoking behaviour...
Association of HbA1c values with mortality and cardiovascular events in diabetic dialysis patients. The INVOR study and review of the literatureGisela Sturm
Division of Genetic Epidemiology, Department of Medical Genetics, Molecular and Clinical Pharmacology, Innsbruck Medical University, Innsbruck, Austria
PLoS ONE 6:e20093. 2011..Improved glycemic control reduces complications in patients with diabetes mellitus (DM). However, it is discussed controversially whether patients with diabetes mellitus and end-stage renal disease benefit from strict glycemic control...
Carotid plaques and their predictive value for cardiovascular disease and all-cause mortality in hemodialysis patients considering renal transplantation: a decade follow-upJohannes P Schwaiger
Division of Genetic Epidemiology, Department of Medical Genetics, Molecular and Clinical Pharmacology, Innsbruck Medical University, Innsbruck, Austria
Am J Kidney Dis 47:888-97. 2006..Not considering transplantation at all neglected a major change in risk. CONCLUSION: We identified carotid plaque score and treatment modality as highly significant predictors for CVD events and all-cause mortality...
CONAN: copy number variation analysis software for genome-wide association studiesLukas Forer
Division of Genetic Epidemiology, Department of Medical Genetics, Molecular and Clinical Pharmacology, Innsbruck Medical University, 6020 Innsbruck, Austria
BMC Bioinformatics 11:318. 2010....
Immunohistochemical localization of apolipoprotein A-IV in human kidney tissueMarina Haiman
Division of Genetic Epidemiology, Department of Medical Genetics, Molecular and Clinical Pharmacology, Innsbruck Medical University, Innsbruck, Austria
Kidney Int 68:1130-6. 2005..It is synthesized primarily in epithelial cells of the small intestine. Elevated plasma concentrations of ApoA-IV in patients with chronic kidney disease suggest that the human kidney is involved in ApoA-IV metabolism...
Visualizing interaction effects: a proposal for presentation and interpretationClaudia Lamina
Division of Genetic Epidemiology, Department of Medical Genetics, Molecular and Clinical Pharmacology, Innsbruck Medical University, Schöpfstr 41, A 6020 Innsbruck, Austria
J Clin Epidemiol 65:855-62. 2012..However, the interpretation of these models is often not clear. We propose several graphical presentations and corresponding statistical tests alleviating the interpretation of interaction effects...
Look beyond one's own nose: combination of information from publicly available sources reveals an association of GATA4 polymorphisms with plasma triglyceridesClaudia Lamina
Division of Genetic Epidemiology, Department of Medical Genetics, Molecular and Clinical Pharmacology, Innsbruck Medical University, Innsbruck, Austria
Atherosclerosis 219:698-703. 2011..Our approach is a more often applicable advance to uncover associations and their functional implications which would have been otherwise missed by standard genome-wide association studies (GWAS)...
eCOMPAGT -- efficient combination and management of phenotypes and genotypes for genetic epidemiologySebastian Schönherr
Department of Database and Information Systems, Institute of Computer Science, University of Innsbruck, Innsbruck, Austria
BMC Bioinformatics 10:139. 2009..In addition, genotyping core facilities handling cooperative projects require a straightforward solution to monitor the status and financial resources of the different projects...
HaploGrep: a fast and reliable algorithm for automatic classification of mitochondrial DNA haplogroupsAnita Kloss-Brandstätter
Department of Medical Genetics, Molecular and Clinical Pharmacology, Innsbruck Medical University, Austria
Hum Mutat 32:25-32. 2011..HaploGrep can be accessed freely at http://haplogrep.uibk.ac.at...
Kinetic studies of atherogenic lipoproteins in hemodialysis patients: do they tell us more about their pathology?Florian Kronenberg
Division of Genetic Epidemiology, Department of Medical Genetics, Molecular and Clinical Pharmacology, Innsbruck Medical University, Innsbruck, Austria
Semin Dial 20:554-60. 2007..These observations suggest that the real danger of these particles is not reflected by the measured concentrations but by their metabolic qualities...
Interaction of time-varying albumin and phosphorus on mortality in incident dialysis patientsEmanuel Zitt
Department of Nephrology and Dialysis, Academic Teaching Hospital, Feldkirch, Austria
Clin J Am Soc Nephrol 6:2650-6. 2011..We prospectively investigated the relationship and interaction between serum albumin and phosphorus with all-cause mortality in an inception cohort of incident dialysis patients...
Oxidized phospholipids, lipoprotein(a), lipoprotein-associated phospholipase A2 activity, and 10-year cardiovascular outcomes: prospective results from the Bruneck studyStefan Kiechl
Department of Neurology, Medical University of Innsbruck, Austria
Arterioscler Thromb Vasc Biol 27:1788-95. 2007..Oxidized phospholipids (OxPL) circulate on apolipoprotein B-100 particles (OxPL/apoB), and primarily on Lp(a) lipoprotein (a) [Lp(a)]. The relationship of OxPL/apoB levels to future cardiovascular events is not known...
The ATGL gene is associated with free fatty acids, triglycerides, and type 2 diabetesVeit Schoenborn
Division of Genetic Epidemiology, Department of Medical Genetics, Molecular Clinical Pharmacology, Innsbruck Medical University, Schopfstrasse 41, A 6020 Innsbruck, Austria
Diabetes 55:1270-5. 2006..These results complement previous findings of functional studies in mammals and elucidate a potential role of ATGL in pathways involved in components of the metabolic syndrome...
Late referral defined by renal function: association with morbidity and mortalityKarl Lhotta
Division of Nephrology, Department of Internal Medicine, Innsbruck University Hospital, Innsbruck, Austria
J Nephrol 16:855-61. 2003..Many patients with chronic renal failure are referred very late to nephrology units. Late referral (LR) is reported to be associated with increased morbidity and mortality...
Evaluation of gene-obesity interaction effects on cholesterol levels: A genetic predisposition score on HDL-cholesterol is modified by obesityClaudia Lamina
Division of Genetic Epidemiology, Department of Medical Genetics, Molecular and Clinical Pharmacology, Innsbruck Medical University, Schoepfstr 41, A 6020 Innsbruck, Austria
Atherosclerosis 225:363-9. 2012..g. physical activity and diet) was observed in some candidate gene studies on lipids. We aimed to evaluate gene-obesity interaction effects on HDL (HDL-C), LDL (LDL-C) and total cholesterol (TC) levels using genetic predisposition scores...
Joubert-like syndrome unlinked to known candidate lociAndreas R Janecke
Departments of Pediatrics and Ophthalmology, University Hospital Innsbruck, Institutes of Medical Biology, Human Genetics, and Pathology, University of Innsbruck, Innsbruck, Austria
J Pediatr 144:264-9. 2004..Homozygosity mapping excluded three JS candidate loci as sites harboring the disease gene. We thus delineate an autosomal recessive disorder, distinct from JS and related conditions...
Investigation and functional characterization of rare genetic variants in the adipose triglyceride lipase in a large healthy working populationStefan Coassin
Division of Genetic Epidemiology, Department of Medical Genetics, Molecular and Clinical Pharmacology, Innsbruck Medical University, Innsbruck, Austria
PLoS Genet 6:e1001239. 2010..In contrast to these rather small effects, we describe here also the first patient with "neutral lipid storage disease with myopathy" (NLSDM) with a point mutation in the catalytic dyad, but otherwise intact protein...
Lipoprotein(a) as a predictor of cardiovascular disease in a prospectively followed cohort of patients with type 1 diabetesBarbara Kollerits
Division of Genetic Epidemiology, Innsbruck Medical University, , A-6020, Innsbruck, Austria
Diabetes Care 29:1661-3. 2006
Sample selection algorithm to improve quality of genotyping from plasma-derived DNA: to separate the wheat from the chaffVeit Schoenborn
Division of Genetic Epidemiology, Department of Medical Genetics, Molecular and Clinical Pharmacology, Innsbruck Medical University, Innsbruck, Austria
Hum Mutat 28:1141-9. 2007..Our workflow and sample selection algorithm offers new opportunities to recover reliable DNA from stored plasma material. This algorithm is superior to testing the amount of input DNA...
Cigarette smoking and vascular pathology in renal biopsiesKarl Lhotta
Clinical Nephrology Division, Department of Internal Medicine, Innsbruck University Hospital, Innsbruck, Austria
Kidney Int 61:648-54. 2002..The exact pathomechanism of nicotine-induced renal damage is, however, unknown. Autopsy studies and functional investigations suggest that the renal vasculature is primarily affected by smoking...
Association of daytime sleepiness with COMT polymorphism in patients with parkinson disease: a pilot studyBirgit Frauscher
Innsbruck Medical University, Department of Neurology, Innsbruck, Austria
Sleep 27:733-6. 2004..To evaluate an association between catechol-O-methyltransferase (COMT) genotype and subjective daytime sleepiness in patients with Parkinson disease...
Impact of ENPP1 genotype on arterial calcification in patients with end-stage renal failurePhilipp Eller
Department of Internal Medicine, Division of General Internal Medicine, Innsbruck Medical University, Innsbruck, Austria
Nephrol Dial Transplant 23:321-7. 2008..Inactivating mutations of ENPP1 are associated with generalized arterial calcification of infancy. We hypothesized the ENPP1 K121Q variant to be associated with increased vascular calcification in patients with end-stage renal failure...
Somatic mutations throughout the entire mitochondrial genome are associated with elevated PSA levels in prostate cancer patientsAnita Kloss-Brandstätter
Department of Medical Genetics, Molecular and Clinical Pharmacology, Innsbruck Medical University, Austria
Am J Hum Genet 87:802-12. 2010..g., transcription, RNA processing, and translation) and might finally affect oxidative phosphorylation...
Evidence for genetic heterogeneity in lymphedema-cholestasis syndromeMartin Fruhwirth
Department of Pediatrics, University Hospital Innsbruck, the Institute of Medical Biology and Human Genetics, University of Innsbruck, Austria
J Pediatr 142:441-7. 2003..The infant may represent an instance of a previously undescribed lymphedema-cholestasis syndrome...
Plasma distribution of apoA-IV in patients with coronary artery disease and healthy controlsBenjie Ezeh
Institute of Medical Biology and Human Genetics, University of Innsbruck, Schöpfstr 41, A 6020, Innsbruck, Austria
J Lipid Res 44:1523-9. 2003..Therefore, the antiatherogenic effect of apoA-IV has to be explained by other functional properties of apoA-IV (e.g., the antioxidative characteristics)...
Emerging risk factors and markers of chronic kidney disease progressionFlorian Kronenberg
Division of Genetic Epidemiology, Department of Medical Genetics, Molecular and Clinical Pharmacology, Innsbruck Medical University, Innsbruck, Austria
Nat Rev Nephrol 5:677-89. 2009....
Genome-wide association studies in aging-related processes such as diabetes mellitus, atherosclerosis and cancerFlorian Kronenberg
Division of Genetic Epidemiology, Department of Medical Genetics, Molecular and Clinical Pharmacology, Innsbruck Medical University, Schöpfstr 41, A 6020, Innsbruck, Austria
Exp Gerontol 43:39-43. 2008..This paper provides a short overview about design and methods of GWAS and reviews recent advances in the identification of susceptibility genes for type 2 diabetes mellitus, atherosclerosis and cancer using GWAS...
Microcirculatory assessment of vascular acrosyndrome in anorexia nervosa and analysis of manifestation factorsPeter Klein-Weigel
Clinical Department of Vascular Surgery, University of Innsbruck, Anichstrasse 35, A 6020 Innsbruck, Austria
J Psychosom Res 56:145-8. 2004..Acrocyanosis (AC) is a common manifestation of starving syndrome in anorexia nervosa. We characterized microvascular changes associated with AC and determined discriminating factors between acrally symptomatic and nonsymptomatic patients...
Delayed in vivo catabolism of intermediate-density lipoprotein and low-density lipoprotein in hemodialysis patients as potential cause of premature atherosclerosisKatsunori Ikewaki
Division of Cardiology, Department of Internal Medicine, Jikei University School of Medicine, Tokyo, Japan
Arterioscler Thromb Vasc Biol 25:2615-22. 2005..The resulting markedly prolonged residence times of both IDL and LDL particles might thus significantly contribute to the well-documented high risk for premature cardiovascular disease in HD patients...
Association between the UGT1A1*28 allele, bilirubin levels, and coronary heart disease in the Framingham Heart StudyJing Ping Lin
Office of Biostatistics Research, NHLBI NIH, 6701 Rockledge Dr, Suite 8110, Bethesda, MD 20892 7938, USA
Circulation 114:1476-81. 2006..We performed an association study in the Framingham Heart Study population to investigate whether UGT1A1*28 is associated with the risk of CVD events...
Oxidized phospholipids predict the presence and progression of carotid and femoral atherosclerosis and symptomatic cardiovascular disease: five-year prospective results from the Bruneck studySotirios Tsimikas
Department of Medicine, University of California San Diego, La Jolla, California 92093 0682, USA
J Am Coll Cardiol 47:2219-28. 2006..The purpose of this work was to determine the predictive value of oxidized phospholipids (OxPLs) present on apolipoprotein B-100 particles (apoB) in carotid and femoral atherosclerosis...
Asymmetric dimethylarginine and progression of chronic kidney disease: the mild to moderate kidney disease studyDanilo Fliser
Division of Nephrology, Department of Internal Medicine, Hannover Medical School, Carl Neuberg Strasse 1, 30625 Hannover, Germany
J Am Soc Nephrol 16:2456-61. 2005..The endogenous NO synthase inhibitor ADMA is significantly associated with progression of nondiabetic kidney diseases. Lowering plasma ADMA concentrations may be a novel therapeutic target to prevent progressive renal impairment...
Renal insulin resistance syndrome, adiponectin and cardiovascular events in patients with kidney disease: the mild and moderate kidney disease studyBjoern Becker
Department of Internal Medicine, Hannover Medical School, Carl Neuberg Strasse 1, 30625 Hannover, Germany
J Am Soc Nephrol 16:1091-8. 2005..Moreover, hypoadiponectinemia is a novel putative CV risk factor in patients with mild and moderate renal failure...
The adiponectin gene is associated with adiponectin levels but not with characteristics of the insulin resistance syndrome in healthy CaucasiansVitolds Mackevics
First Department of Internal Medicine, St Johann Spital, Paracelsus Private Medical University Salzburg, Austriaia
Eur J Hum Genet 14:349-56. 2006..However, we could not confirm an association of this gene locus with metabolic parameters of the insulin resistance syndrome...
Apolipoprotein A-IV is an independent predictor of disease activity in patients with inflammatory bowel diseaseUli C Broedl
Department of Internal Medicine II, University of Munich, Germany
Inflamm Bowel Dis 13:391-7. 2007..We therefore hypothesized that apoA-IV may be associated with disease activity in patients with inflammatory bowel disease (IBD)...
Predictive performance of renal function equations for patients with chronic kidney disease and normal serum creatinine levelsAndrew G Bostom
Division of Renal Diseases, Rhode Island Hospital, Providence, Rhode Island 02903, USA
J Am Soc Nephrol 13:2140-4. 2002..Further studies are needed to confirm the generalizability of these findings for this patient subgroup...
Do genetic factors protect for early onset lung cancer? A case control study before the age of 50 yearsAlbert Rosenberger
Department of Genetic Epidemiology, Georg August University of Gottingen, Medical School, Germany
BMC Cancer 8:60. 2008..This study was set up to investigate the role of candidate genes in the susceptibility to lung cancer patients younger than 51 years at diagnosis...
SLC2A9 influences uric acid concentrations with pronounced sex-specific effectsAngela Doring
Institute of Epidemiology, Helmholtz Zentrum Munchen, German Research Center for Environmental Health, 85764 Neuherberg, Germany
Nat Genet 40:430-6. 2008..The proportion of the variance of serum uric acid concentrations explained by genotypes was about 1.2% in men and 6% in women, and the percentage accounted for by expression levels was 3.5% in men and 15% in women...
Quantifying the contribution of genetic variants for survival phenotypesMartina Müller
LMU, University of Munich, IBE, Chair of Epidemiology, Munich, Germany
Genet Epidemiol 32:574-85. 2008..With the criterion based on Schoenfeld residuals, we recommend a powerful and flexible tool for genetic epidemiological studies to refine genetic association studies by judging the contribution of genetic variants to survival phenotype...
Matrix metalloproteinase 1 (MMP1) is associated with early-onset lung cancerWiebke Sauter
Institute of Epidemiology, GSF National Research Center for Environment and Health, D 85764 Neuherberg, Germany
Cancer Epidemiol Biomarkers Prev 17:1127-35. 2008..0-1.5). The haplotype analysis supported these findings, especially for subgroups with high smoking intensity. In summary, we identified MMP1 to be associated with an increased risk for lung cancer, which was modified by smoking...
APOA5 variants and metabolic syndrome in CaucasiansHarald Grallert
Institute of Epidemiology, GSF National Research Center for Environment and Health, Neuherberg, Germany
J Lipid Res 48:2614-21. 2007..Furthermore, the data suggest a different mechanism of APOA5 impact on MetS in Caucasians, as variant c.56C>G (not analyzed in the Japanese study) and not -1131T>C, as in the Japanese subjects, was associated with MetS...
Association of genetic variation on chromosome 9p21 with susceptibility and progression of atherosclerosis: a population-based, prospective studyShu Ye
Clinical Pharmacology, William Harvey Research Institute, Barts and the London School of Medicine, London, United Kingdom
J Am Coll Cardiol 52:378-84. 2008....
Fibroblast growth factor 23 (FGF23) predicts progression of chronic kidney disease: the Mild to Moderate Kidney Disease (MMKD) StudyDanilo Fliser
Department of Internal Medicine, Hannover Medical School, Germany
J Am Soc Nephrol 18:2600-8. 2007..In conclusion, FGF23 is a novel independent predictor of progression of renal disease in patients with nondiabetic CKD. Its pathophysiological significance remains to be elucidated...
Increased serum lipoprotein(a) concentrations and low molecular weight phenotypes of apolipoprotein(a) are associated with symptomatic peripheral arterial diseaseBenjamin Dieplinger
Department of Laboratory Medicine, Konventhospital Barmherzige Brueder Linz, Linz, Austria
Clin Chem 53:1298-305. 2007..Only 2 small and conflicting studies have investigated the possibility of an association of peripheral arterial disease (PAD) with high serum Lp(a) concentrations and low molecular weight (LMW) phenotypes of apolipoprotein(a) [apo(a)]...
Estimating the single nucleotide polymorphism genotype misclassification from routine double measurements in a large epidemiologic sampleIris M Heid
Helmholtz Zentrum Munchen German Research Center for Environmental Health, Institute of Epidemiology, 85764 Neuherberg, Germany
Am J Epidemiol 168:878-89. 2008..In situations with more substantial error, the presented approach using duplicate genotyping and the MC-SIMEX method is practical and helpful for quantifying the genotyping error and its impact...
B-type natriuretic peptide concentrations predict the progression of nondiabetic chronic kidney disease: the Mild-to-Moderate Kidney Disease StudyKatharina Susanne Spanaus
Institute of Clinical Chemistry, University Hospital Zurich, Zurich, Switzerland
Clin Chem 53:1264-72. 2007..We examined the relevance of BNP and NT-proBNP as predictors of CKD progression...
Lipoprotein metabolism and lipid management in chronic kidney diseaseBonnie C H Kwan
Department of Medicine and Therapeutics, The Chinese University of Hong Kong, Hong Kong, China
J Am Soc Nephrol 18:1246-61. 2007
Dietary mono- and polyunsaturated fatty acids similarly increase plasma apolipoprotein A-IV concentrations in healthy men and womenMario Kratz
Institute of Arteriosclerosis Research at the University of Münster, 48149 Munster, Germany
J Nutr 133:1821-5. 2003..In conclusion, diets rich in unsaturated fatty acids, independent of the degree of unsaturation, gender and apo A-IV genotype, increase plasma apo A-IV concentrations compared with a baseline diet rich in SFA in healthy men and women...
Epidemiology of dialysis patients and heart failure patientsKamyar Kalantar-Zadeh
Division of Nephrology and Hypertension, David Geffen School of Medicine at UCLA, Los Angeles Biomedical Research Center at Harbor UCLA, Torrance, CA 90509 2910, USA
Semin Nephrol 26:118-33. 2006....
Increased plasma amylin in type 1 diabetic patients after kidney and pancreas transplantation: A sign of impaired beta-cell function?Marietta Stadler
Ludwig Boltzmann Institute of Metabolic Diseases and Nutrition, Vienna
Diabetes Care 29:1031-8. 2006..After successful pancreas-kidney transplantation (PKT), type 1 diabetic patients may revert to a nondiabetic metabolism without exogenous insulin therapy and re-secrete all beta-cell hormones...
Does statin therapy improve cardiovascular outcomes in patients with type 2 diabetes receiving hemodialysis?Bonnie C H Kwan
Prince of Wales Hospital, Hong Kong
Nat Clin Pract Nephrol 2:76-7. 2006
Association of ankle-brachial index and plaques in the carotid and femoral arteries with cardiovascular events and total mortality in a population-based study with 13 years of follow-upClaudia Lamina
Institute of Epidemiology, GSF--National Research Center for Environment and Health, Neuherberg, Germany
Eur Heart J 27:2580-7. 2006..0001). CONCLUSION: Both ABI and number of plaque-affected arteries are strong predictors for incident MI and cardiovascular and total mortality...
Calpain-10 variants and haplotypes are associated with polycystic ovary syndrome in CaucasiansCaren Vollmert
Institute of Epidemiology, GSF National Research Center for Environment and Health, Institute of Epidemiology, Ingolstadter Landstrasse 1, D 85764 Neuherberg, Germany
Am J Physiol Endocrinol Metab 292:E836-44. 2007..557, P=0.0011). By investigating a broad panel of CAPN10 variants, our results pointed to an allele dose-dependent association of UCSNP-56 and ins/del-19 with PCOS...
On the replication of genetic associations: timing can be everything!Jessica Lasky-Su
SUNY Upstate Medical University, Syracuse, NY 13210, USA
Am J Hum Genet 82:849-58. 2008..If the specifics of age- or time-varying genetic effects are not considered in the selection of both the follow-up samples and in the statistical analysis, important genetic associations may be missed...
Daytime sleepiness and the COMT val158met polymorphism in patients with Parkinson diseaseIda Rissling
Department of Neurology, Philipps University Marburg, Germany
Sleep 29:108-11. 2006..We sought to confirm this association in a large group of patients with PD...
