Florian Kronenberg

Summary

Affiliation: University of Innsbruck
Country: Austria

Publications

  1. ncbi Apolipoprotein(a) isoform-specific changes of lipoprotein(a) after kidney transplantation
    Florian 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
  2. ncbi Lipoprotein(a) in stored plasma samples and the ravages of time. Why epidemiological studies might fail
    F Kronenberg
    Institute of Medical Biology and Human Genetics, University of Innsbruck Austria
    Arterioscler Thromb Vasc Biol 16:1568-72. 1996
  3. ncbi Prevalence and progression of peripheral arterial calcifications in patients with ESRD
    Florian Kronenberg
    Institute of Medical Biology and Human Genetics, University of Innsbruck, Austria
    Am J Kidney Dis 41:140-8. 2003
  4. ncbi A genome scan for loci influencing anti-atherogenic serum bilirubin levels
    Florian Kronenberg
    Cardiovascular Genetics, University of Utah, Salt Lake City, Utah, USA
    Eur J Hum Genet 10:539-46. 2002
  5. ncbi Epidemiology, pathophysiology and therapeutic implications of lipoprotein(a) in kidney disease
    Florian 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
  6. ncbi Segregation analysis of HDL cholesterol in the NHLBI Family Heart Study and in Utah pedigrees
    Florian Kronenberg
    Department of Cardiovascular Genetics, University of Utah, Salt Lake City, Utah, USA
    Eur J Hum Genet 10:367-74. 2002
  7. ncbi 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
  8. ncbi Apolipoprotein A-IV serum concentrations are elevated in patients with mild and moderate renal failure
    Florian Kronenberg
    Institute of Medical Biology and Human Genetics, University of Innsbruck, Innsbruck, Austria
    J Am Soc Nephrol 13:461-9. 2002
  9. ncbi [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
  10. ncbi Influence of leisure time physical activity and television watching on atherosclerosis risk factors in the NHLBI Family Heart Study
    F Kronenberg
    Cardiovascular Genetics, University of Utah, Salt Lake City, USA
    Atherosclerosis 153:433-43. 2000

Detail Information

Publications104 found, 100 shown here

  1. ncbi Apolipoprotein(a) isoform-specific changes of lipoprotein(a) after kidney transplantation
    Florian 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...
  2. ncbi Lipoprotein(a) in stored plasma samples and the ravages of time. Why epidemiological studies might fail
    F 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...
  3. ncbi Prevalence and progression of peripheral arterial calcifications in patients with ESRD
    Florian 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...
  4. ncbi A genome scan for loci influencing anti-atherogenic serum bilirubin levels
    Florian 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...
  5. ncbi Epidemiology, pathophysiology and therapeutic implications of lipoprotein(a) in kidney disease
    Florian 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...
  6. ncbi Segregation analysis of HDL cholesterol in the NHLBI Family Heart Study and in Utah pedigrees
    Florian 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..
  7. ncbi 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
    ....
  8. ncbi Apolipoprotein A-IV serum concentrations are elevated in patients with mild and moderate renal failure
    Florian 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...
  9. ncbi [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...
  10. ncbi Influence of leisure time physical activity and television watching on atherosclerosis risk factors in the NHLBI Family Heart Study
    F 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...
  11. ncbi Low apolipoprotein A-IV plasma concentrations in men with coronary artery disease
    F 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)...
  12. ncbi Lipoprotein(a) serum concentrations and apolipoprotein(a) phenotypes in mild and moderate renal failure
    F 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...
  13. ncbi Role of lipoprotein(a) and apolipoprotein(a) phenotype in atherogenesis: prospective results from the Bruneck study
    F 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...
  14. ncbi Dopamine D4 receptor polymorphism and idiopathic Parkinson's disease
    M 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...
  15. ncbi The low molecular weight apo(a) phenotype is an independent predictor for coronary artery disease in hemodialysis patients: a prospective follow-up
    F 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...
  16. ncbi 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...
  17. ncbi Homocysteine, lipoprotein(a) and fibrinogen: metabolic risk factors for cardiovascular complications of chronic renal disease
    F 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...
  18. ncbi LDL-unbound apolipoprotein(a) and carotid atherosclerosis in hemodialysis patients
    F 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...
  19. ncbi Dyslipidemia and nephrotic syndrome: recent advances
    Florian 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...
  20. doi INSIG2 polymorphism is neither associated with BMI nor with phenotypes of lipoprotein metabolism
    Eva 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
    ....
  21. ncbi Role of the kidney in the metabolism of apolipoprotein A-IV: influence of the type of proteinuria
    Arno 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...
  22. pmc Sex-specific association of the putative fructose transporter SLC2A9 variants with uric acid levels is modified by BMI
    Anita 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...
  23. doi The association of relative telomere length with symptomatic peripheral arterial disease: results from the CAVASIC study
    Julia Raschenberger
    Division of Genetic Epidemiology, Department of Medical Genetics, Molecular and Clinical Pharmacology, Innsbruck Medical University, Schöpfstr 41, A 6020 Innsbruck, Austria
    Atherosclerosis 229:469-74. 2013
    ..However, information in patients with symptomatic peripheral arterial disease (PAD) is sparse. We therefore aimed to investigate whether inter-individual differences in relative telomere length (RTL) are associated with symptomatic PAD...
  24. doi Sex-specific association of time-varying haemoglobin values with mortality in incident dialysis patients
    Gisela 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...
  25. pmc Sex and age interaction with genetic association of atherogenic uric acid concentrations
    Anita 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...
  26. doi Uric acid as a risk factor for progression of non-diabetic chronic kidney disease? The Mild to Moderate Kidney Disease (MMKD) Study
    Gisela 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...
  27. pmc Serum bilirubin levels, UGT1A1 polymorphisms and risk for coronary artery disease
    Arno 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...
  28. ncbi The apolipoprotein(a) size polymorphism is associated with nephrotic syndrome
    Florian 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...
  29. doi Evaluation of gene-obesity interaction effects on cholesterol levels: a genetic predisposition score on HDL-cholesterol is modified by obesity
    Claudia 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...
  30. doi Cellular aging reflected by leukocyte telomere length predicts advanced atherosclerosis and cardiovascular disease risk
    Peter 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...
  31. ncbi Apolipoprotein A-IV predicts progression of chronic kidney disease: the mild to moderate kidney disease study
    Eva 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...
  32. pmc Association of the melanocortin-4 receptor V103I polymorphism with dietary intake in severely obese persons
    Michaela 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...
  33. doi Association between the UGT1A1 TA-repeat polymorphism and bilirubin concentration in patients with intermittent claudication: results from the CAVASIC study
    Barbara 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...
  34. doi Telomere length and risk of incident cancer and cancer mortality
    Peter 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...
  35. ncbi Afamin is a novel human vitamin E-binding glycoprotein characterization and in vitro expression
    Lidija 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...
  36. pmc Lipoprotein kinetics in male hemodialysis patients treated with atorvastatin
    Johannes P Schwaiger
    Division of Genetic Epidemiology, Department of Medical Genetics and Molecular Pharmacology, Innsbruck Medical University, Innsbruck, Austria
    Clin J Am Soc Nephrol 8:1319-26. 2013
    ..It is unclear whether treatment with statins improves LDL kinetics in HD patients as is known for the general population. Therefore, this kinetic study assessed apoB-containing lipoproteins in these patients...
  37. pmc SNPflow: a lightweight application for the processing, storing and automatic quality checking of genotyping assays
    Hansi Weissensteiner
    Division of Genetic Epidemiology, Department of Medical Genetics, Molecular and Clinical Pharmacology, Innsbruck Medical University, Innsbruck, Austria
    PLoS ONE 8:e59508. 2013
    ..The software, a user manual, screenshots and a screencast illustrating the main features are available at http://genepi-snpflow.i-med.ac.at...
  38. doi Comparison and evaluation of cardiac biomarkers in patients with intermittent claudication: results from the CAVASIC study
    Barbara Kollerits
    Division of Genetic Epidemiology, Department of Medical Genetics, Molecular and Clinical Pharmacology, Innsbruck Medical University, Innsbruck, Austria
    Clin Chem 59:692-702. 2013
    ..However, there is limited information about the association and comparative performance of these peptides in peripheral arterial disease (PAD)...
  39. pmc Candidate gene sequencing of SLC11A2 and TMPRSS6 in a family with severe anaemia: common SNPs, rare haplotypes, no causative mutation
    Anita 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...
  40. pmc Genetic evidence for a role of adiponutrin in the metabolism of apolipoprotein B-containing lipoproteins
    Barbara 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...
  41. ncbi Cigarette smoking and chronic allograft nephropathy
    Nina 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...
  42. ncbi Proteinuria and hemoglobin levels in patients with primary glomerular disease
    Nina 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...
  43. ncbi Carotid plaques and their predictive value for cardiovascular disease and all-cause mortality in hemodialysis patients considering renal transplantation: a decade follow-up
    Johannes 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
    ....
  44. pmc A common variant in the adiponutrin gene influences liver enzyme values
    Barbara 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...
  45. ncbi 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-up
    Barbara 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
    ....
  46. pmc eCOMPAGT integrates mtDNA: import, validation and export of mitochondrial DNA profiles for population genetics, tumour dynamics and genotype-phenotype association studies
    Hansi 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...
  47. pmc An optimized procedure for the design and evaluation of Ecotilling assays
    Stefan Coassin
    Division of Genetic Epidemiology, Department of Medical Genetics, Molecular and Clinical Pharmacology, Innsbruck Medical University, Innsbruck, Austria
    BMC Genomics 9:510. 2008
    ....
  48. pmc Genetic-epidemiological evidence on genes associated with HDL cholesterol levels: a systematic in-depth review
    Eva 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...
  49. doi Lost in the space of bioinformatic tools: a constantly updated survival guide for genetic epidemiology. The GenEpi Toolbox
    Stefan 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...
  50. pmc Association of HbA1c values with mortality and cardiovascular events in diabetic dialysis patients. The INVOR study and review of the literature
    Gisela 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...
  51. pmc CONAN: copy number variation analysis software for genome-wide association studies
    Lukas Forer
    Division of Genetic Epidemiology, Department of Medical Genetics, Molecular and Clinical Pharmacology, Innsbruck Medical University, 6020 Innsbruck, Austria
    BMC Bioinformatics 11:318. 2010
    ....
  52. ncbi Immunohistochemical localization of apolipoprotein A-IV in human kidney tissue
    Marina 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...
  53. doi Influences on the reduction of relative telomere length over 10 years in the population-based Bruneck Study: introduction of a well-controlled high-throughput assay
    Silvia 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...
  54. pmc Cloudgene: a graphical execution platform for MapReduce programs on private and public clouds
    Sebastian Schönherr
    Division of Genetic Epidemiology Department of Medical Genetics, Molecular and Clinical Pharmacology, Innsbruck Medical University, Innsbruck, Austria
    BMC Bioinformatics 13:200. 2012
    ....
  55. doi Visualizing interaction effects: a proposal for presentation and interpretation
    Claudia 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...
  56. doi Look beyond one's own nose: combination of information from publicly available sources reveals an association of GATA4 polymorphisms with plasma triglycerides
    Claudia 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)...
  57. pmc eCOMPAGT -- efficient combination and management of phenotypes and genotypes for genetic epidemiology
    Sebastian 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...
  58. ncbi 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...
  59. doi HaploGrep: a fast and reliable algorithm for automatic classification of mitochondrial DNA haplogroups
    Anita 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...
  60. pmc Interaction of time-varying albumin and phosphorus on mortality in incident dialysis patients
    Emanuel 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...
  61. ncbi Oxidized phospholipids, lipoprotein(a), lipoprotein-associated phospholipase A2 activity, and 10-year cardiovascular outcomes: prospective results from the Bruneck study
    Stefan 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...
  62. ncbi The ATGL gene is associated with free fatty acids, triglycerides, and type 2 diabetes
    Veit 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...
  63. doi In vivo stable-isotope kinetic study suggests intracellular assembly of lipoprotein(a)
    Michael E Frischmann
    Division of Genetic Epidemiology, Department of Medical Genetics, Molecular and Clinical Pharmacology, Innsbruck Medical University, Austria
    Atherosclerosis 225:322-7. 2012
    ..To address the Lp(a) assembly mechanism, we studied the in vivo kinetics of apo(a) and apoB-100 from Lp(a) and LDL apoB-100 in nine healthy probands using stable-isotope methodology...
  64. ncbi Late referral defined by renal function: association with morbidity and mortality
    Karl 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...
  65. ncbi Joubert-like syndrome unlinked to known candidate loci
    Andreas 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...
  66. pmc Investigation and functional characterization of rare genetic variants in the adipose triglyceride lipase in a large healthy working population
    Stefan 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...
  67. ncbi Sample selection algorithm to improve quality of genotyping from plasma-derived DNA: to separate the wheat from the chaff
    Veit 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...
  68. ncbi Lipoprotein(a) as a predictor of cardiovascular disease in a prospectively followed cohort of patients with type 1 diabetes
    Barbara Kollerits
    Division of Genetic Epidemiology, Innsbruck Medical University, Schöpfstr 41, A 6020, Innsbruck, Austria
    Diabetes Care 29:1661-3. 2006
  69. ncbi Association of daytime sleepiness with COMT polymorphism in patients with parkinson disease: a pilot study
    Birgit 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...
  70. ncbi Cigarette smoking and vascular pathology in renal biopsies
    Karl 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...
  71. ncbi Impact of ENPP1 genotype on arterial calcification in patients with end-stage renal failure
    Philipp 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...
  72. pmc Somatic mutations throughout the entire mitochondrial genome are associated with elevated PSA levels in prostate cancer patients
    Anita 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...
  73. ncbi Evidence for genetic heterogeneity in lymphedema-cholestasis syndrome
    Martin 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...
  74. ncbi Plasma distribution of apoA-IV in patients with coronary artery disease and healthy controls
    Benjie 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)...
  75. ncbi Microcirculatory assessment of vascular acrosyndrome in anorexia nervosa and analysis of manifestation factors
    Peter 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...
  76. doi Emerging risk factors and markers of chronic kidney disease progression
    Florian 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
    ....
  77. ncbi Genome-wide association studies in aging-related processes such as diabetes mellitus, atherosclerosis and cancer
    Florian 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...
  78. ncbi Lipoprotein metabolism and lipid management in chronic kidney disease
    Bonnie 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
  79. ncbi Predictive performance of renal function equations for patients with chronic kidney disease and normal serum creatinine levels
    Andrew 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...
  80. ncbi Asymmetric dimethylarginine and progression of chronic kidney disease: the mild to moderate kidney disease study
    Danilo 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...
  81. pmc Do genetic factors protect for early onset lung cancer? A case control study before the age of 50 years
    Albert 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...
  82. ncbi Oxidized phospholipids predict the presence and progression of carotid and femoral atherosclerosis and symptomatic cardiovascular disease: five-year prospective results from the Bruneck study
    Sotirios 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...
  83. ncbi APOA5 variants and metabolic syndrome in Caucasians
    Harald 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...
  84. ncbi Fibroblast growth factor 23 (FGF23) predicts progression of chronic kidney disease: the Mild to Moderate Kidney Disease (MMKD) Study
    Danilo 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...
  85. ncbi Increased serum lipoprotein(a) concentrations and low molecular weight phenotypes of apolipoprotein(a) are associated with symptomatic peripheral arterial disease
    Benjamin 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)]...
  86. ncbi B-type natriuretic peptide concentrations predict the progression of nondiabetic chronic kidney disease: the Mild-to-Moderate Kidney Disease Study
    Katharina 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...
  87. ncbi Apolipoprotein A-IV is an independent predictor of disease activity in patients with inflammatory bowel disease
    Uli 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)...
  88. ncbi Association between the UGT1A1*28 allele, bilirubin levels, and coronary heart disease in the Framingham Heart Study
    Jing 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...
  89. doi SLC2A9 influences uric acid concentrations with pronounced sex-specific effects
    Angela 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...
  90. ncbi Renal insulin resistance syndrome, adiponectin and cardiovascular events in patients with kidney disease: the mild and moderate kidney disease study
    Bjoern 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...
  91. pmc Estimating the single nucleotide polymorphism genotype misclassification from routine double measurements in a large epidemiologic sample
    Iris 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...
  92. ncbi Delayed in vivo catabolism of intermediate-density lipoprotein and low-density lipoprotein in hemodialysis patients as potential cause of premature atherosclerosis
    Katsunori Ikewaki
    Division of Cardiology, Department of Internal Medicine, Jikei University School of Medicine, Tokyo, Japan
    Arterioscler Thromb Vasc Biol 25:2615-22. 2005
    ..We therefore investigated the in vivo metabolism of apoB-containing lipoproteins in two different ethnic populations of HD patients and controls...
  93. doi Association of genetic variation on chromosome 9p21 with susceptibility and progression of atherosclerosis: a population-based, prospective study
    Shu 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
    ....
  94. ncbi The adiponectin gene is associated with adiponectin levels but not with characteristics of the insulin resistance syndrome in healthy Caucasians
    Vitolds 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...
  95. doi Matrix metalloproteinase 1 (MMP1) is associated with early-onset lung cancer
    Wiebke 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...
  96. ncbi Quantifying the contribution of genetic variants for survival phenotypes
    Martina 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...
  97. ncbi 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
  98. ncbi 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-up
    Claudia Lamina
    Institute of Epidemiology, GSF National Research Center for Environment and Health, Neuherberg, Germany
    Eur Heart J 27:2580-7. 2006
    ....
  99. ncbi Daytime sleepiness and the COMT val158met polymorphism in patients with Parkinson disease
    Ida 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...
  100. ncbi Calpain-10 variants and haplotypes are associated with polycystic ovary syndrome in Caucasians
    Caren 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...
  101. ncbi Dietary mono- and polyunsaturated fatty acids similarly increase plasma apolipoprotein A-IV concentrations in healthy men and women
    Mario 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...