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Prevalence of moderately increased albuminuria among individuals with normal HbA1c level but impaired glucose tolerance: Results from the LIFE-Adult-Study.
LIFE Adult

Abstract (Expand)

Aims: Diabetes screening strategies using glycated haemoglobin (HbA1c) as first-instance diagnostic parameter may cause failure to detect individuals with abnormal glucose regulation and possible signs … of microvascular complications despite "rule-out" HbA1c levels. This cross-sectional study examined the diagnostic performance of HbA1c in relation to fasting and two-hour postload plasma glucose (FPG/2 h-PG), and investigated whether individuals with normal HbA1c but abnormal FPG/2 h-PG have a higher prevalence of moderately increased albuminuria as possible sign of early stage kidney damage. Methods: A total of 2695 individuals (age 40-79 years, 48% men) without prior diagnosis of diabetes and complete measurement of HbA1c, FPG, 2 h-PG and urine albumin-creatinine ratio (UACR) were taken from a large population-based epidemiological study in the City of Leipzig, Germany. Results: A total of 2439 individuals (90.5%, 95% CI: 89.4-91.6) had normal HbA1c levels, <39 mmol/mol (<5.7%), while 234 (8.7%, 95% CI: 7.7-9.8) had prediabetes, HbA1c >/=39 and <48 mmol/mol (>/=5.7 and <6.5%), and 22 (0.8%, 95% CI: 0.5-1.2) had diabetes, HbA1c >/=48 mmol/mol (>/=6.5%), according to HbA1c. Among individuals with normal HbA1c, 35.6% (95% CI: 33.7-37.5) had impaired fasting glucose or impaired glucose tolerance and 1.8% (95% CI: 1.4-2.4) had diabetes according to FPG/2 h-PG. Individuals with normal HbA1c but prediabetic or diabetic FPG/2 h-PG had a significantly higher prevalence of moderately increased albuminuria (9.4%, 95% CI: 7.6-11.5 and 13.3%, 95% CI: 5.8-25.4, respectively) than individuals with normal HbA1c and normal FPG/2 h-PG (3.9%, 95% CI: 3.0-5.0). Conclusions: The prevalence of prediabetes according to FPG/2 h-PG among individuals with normal HbA1c is considerably high, and the prevalence of moderately increased albuminuria in this group is significantly elevated. Risk factors for diabetes such as age, gender and BMI may help to better identify this at-risk group.

Authors: M. Zivkovic, A. Tonjes, R. Baber, K. Wirkner, M. Loeffler, C. Engel

Date Published: 1st Mar 2019

Publication Type: Not specified

Human Diseases: glucose metabolism disease

Genome-wide association study of germline variants and breast cancer-specific mortality
GC-HBOC - German Consortium for Hereditary Breast and Ovarian Cancer

Abstract (Expand)

BACKGROUND We examined the associations between germline variants and breast cancer mortality using a large meta-analysis of women of European ancestry. METHODS Meta-analyses included summary estimates …tes based on Cox models of twelve datasets using ~10.4 million variants for 96,661 women with breast cancer and 7697 events (breast cancer-specific deaths). Oestrogen receptor (ER)-specific analyses were based on 64,171 ER-positive (4116) and 16,172 ER-negative (2125) patients. We evaluated the probability of a signal to be a true positive using the Bayesian false discovery probability (BFDP). RESULTS We did not find any variant associated with breast cancer-specific mortality at P \textless 5 \times 10-8. For ER-positive disease, the most significantly associated variant was chr7:rs4717568 (BFDP = 7%, P = 1.28 \times 10-7, hazard ratio [HR] = 0.88, 95% confidence interval [CI] = 0.84-0.92); the closest gene is AUTS2. For ER-negative disease, the most significant variant was chr7:rs67918676 (BFDP = 11%, P = 1.38 \times 10-7, HR = 1.27, 95% CI = 1.16-1.39); located within a long intergenic non-coding RNA gene (AC004009.3), close to the HOXA gene cluster. CONCLUSIONS We uncovered germline variants on chromosome 7 at BFDP \textless 15% close to genes for which there is biological evidence related to breast cancer outcome. However, the paucity of variants associated with mortality at genome-wide significance underpins the challenge in providing genetic-based individualised prognostic information for breast cancer patients.

Authors: Maria Escala-Garcia, Qi Guo, Thilo Dörk, Sander Canisius, Renske Keeman, Joe Dennis, Jonathan Beesley, Julie Lecarpentier, Manjeet K. Bolla, Qin Wang, Jean Abraham, Irene L. Andrulis, Hoda Anton-Culver, Volker Arndt, Paul L. Auer, Matthias W. Beckmann, Sabine Behrens, Javier Benitez, Marina Bermisheva, Leslie Bernstein, Carl Blomqvist, Bram Boeckx, Stig E. Bojesen, Bernardo Bonanni, Anne-Lise Børresen-Dale, Hiltrud Brauch, Hermann Brenner, Adam Brentnall, Louise Brinton, Per Broberg, Ian W. Brock, Sara Y. Brucker, Barbara Burwinkel, Carlos Caldas, Trinidad Caldés, Daniele Campa, Federico Canzian, Angel Carracedo, Brian D. Carter, Jose E. Castelao, Jenny Chang-Claude, Stephen J. Chanock, Georgia Chenevix-Trench, Ting-Yuan David Cheng, Suet-Feung Chin, Christine L. Clarke, Emilie Cordina-Duverger, Fergus J. Couch, David G. Cox, Angela Cox, Simon S. Cross, Kamila Czene, Mary B. Daly, Peter Devilee, Janet A. Dunn, Alison M. Dunning, Lorraine Durcan, Miriam Dwek, Helena M. Earl, Arif B. Ekici, A. Heather Eliassen, Carolina Ellberg, Christoph Engel, Mikael Eriksson, D. Gareth Evans, Jonine Figueroa, Dieter Flesch-Janys, Henrik Flyger, Marike Gabrielson, Manuela Gago-Dominguez, Eva Galle, Susan M. Gapstur, Montserrat García-Closas, José A. García-Sáenz, Mia M. Gaudet, Angela George, Vassilios Georgoulias, Graham G. Giles, Gord Glendon, David E. Goldgar, Anna González-Neira, Grethe I. Grenaker Alnæs, Mervi Grip, Pascal Guénel, Lothar Haeberle, Eric Hahnen, Christopher A. Haiman, Niclas Håkansson, Per Hall, Ute Hamann, Susan Hankinson, Elaine F. Harkness, Patricia A. Harrington, Steven N. Hart, Jaana M. Hartikainen, Alexander Hein, Peter Hillemanns, Louise Hiller, Bernd Holleczek, Antoinette Hollestelle, Maartje J. Hooning, Robert N. Hoover, John L. Hopper, Anthony Howell, Guanmengqian Huang, Keith Humphreys, David J. Hunter, Wolfgang Janni, Esther M. John, Michael E. Jones, Arja Jukkola-Vuorinen, Audrey Jung, Rudolf Kaaks, Maria Kabisch, Katarzyna Kaczmarek, Michael J. Kerin, Sofia Khan, Elza Khusnutdinova, Johanna I. Kiiski, Cari M. Kitahara, Julia A. Knight, Yon-Dschun Ko, Linetta B. Koppert, Veli-Matti Kosma, Peter Kraft, Vessela N. Kristensen, Ute Krüger, Tabea Kühl, Diether Lambrechts, Loic Le Marchand, Eunjung Lee, Flavio Lejbkowicz, Lian Li, Annika Lindblom, Sara Lindström, Martha Linet, Jolanta Lissowska, Wing-Yee Lo, Sibylle Loibl, Jan Lubiński, Michael P. Lux, Robert J. MacInnis, Melanie Maierthaler, Tom Maishman, Enes Makalic, Arto Mannermaa, Mehdi Manoochehri, Siranoush Manoukian, Sara Margolin, Maria Elena Martinez, Dimitrios Mavroudis, Catriona McLean, Alfons Meindl, Pooja Middha, Nicola Miller, Roger L. Milne, Fernando Moreno, Anna Marie Mulligan, Claire Mulot, Rami Nassir, Susan L. Neuhausen, William T. Newman, Sune F. Nielsen, Børge G. Nordestgaard, Aaron Norman, Håkan Olsson, Nick Orr, V. Shane Pankratz, Tjoung-Won Park-Simon, Jose I. A. Perez, Clara Pérez-Barrios, Paolo Peterlongo, Christos Petridis, Mila Pinchev, Karoliona Prajzendanc, Ross Prentice, Nadege Presneau, Darya Prokofieva, Katri Pylkäs, Brigitte Rack, Paolo Radice, Dhanya Ramachandran, Gadi Rennert, Hedy S. Rennert, Valerie Rhenius, Atocha Romero, Rebecca Roylance, Emmanouil Saloustros, Elinor J. Sawyer, Daniel F. Schmidt, Rita K. Schmutzler, Andreas Schneeweiss, Minouk J. Schoemaker, Fredrick Schumacher, Lukas Schwentner, Rodney J. Scott, Christopher Scott, Caroline Seynaeve, Mitul Shah, Jacques Simard, Ann Smeets, Christof Sohn, Melissa C. Southey, Anthony J. Swerdlow, Aline Talhouk, Rulla M. Tamimi, William J. Tapper, Manuel R. Teixeira, Maria Tengström, Mary Beth Terry, Kathrin Thöne, Rob A. E. M. Tollenaar, Ian Tomlinson, Diana Torres, Thérèse Truong, Constance Turman, Clare Turnbull, Hans-Ulrich Ulmer, Michael Untch, Celine Vachon, Christi J. van Asperen, Ans M. W. van den Ouweland, Elke M. van Veen, Camilla Wendt, Alice S. Whittemore, Walter Willett, Robert Winqvist, Alicja Wolk, Xiaohong R. Yang, Yan Zhang, Douglas F. Easton, Peter A. Fasching, Heli Nevanlinna, Diana M. Eccles, Paul D. P. Pharoah, Marjanka K. Schmidt

Date Published: 1st Mar 2019

Publication Type: Journal article

Human Diseases: hereditary breast ovarian cancer syndrome

Genome-wide association study identifies an acute myeloid leukemia susceptibility locus near BICRA
Genetical Statistics and Systems Biology

Abstract

Not specified

Authors: Christopher J. Walker, Christopher C. Oakes, Luke K. Genutis, Brian Giacopelli, Sandya Liyanarachchi, Deedra Nicolet, Ann-Kathrin Eisfeld, Markus Scholz, Pamela Brock, Jessica Kohlschmidt, Krzysztof Mrózek, Marius Bill, Andrew J. Carroll, Jonathan E. Kolitz, Bayard L. Powell, Eunice S. Wang, Dietger W. Niederwieser, Richard M. Stone, John C. Byrd, Sebastian Schwind, Albert de La Chapelle, Clara D. Bloomfield

Date Published: 1st Mar 2019

Publication Type: Journal article

Association of Human FOS Promoter Variants with the Occurrence of Knee-Osteoarthritis in a Case Control Association Study
Genetical Statistics and Systems Biology

Abstract (Expand)

Our aim was to analyse (i) the presence of single nucleotide polymorphisms (SNPs) in the JUN and FOS core promoters in patients with rheumatoid arthritis (RA), knee-osteoarthritis (OA), and normal … controls (NC); (ii) their functional influence on JUN/FOS transcription levels; and (iii) their associations with the occurrence of RA or knee-OA. JUN and FOS promoter SNPs were identified in an initial screening population using the Non-Isotopic RNase Cleavage Assay (NIRCA); their functional influence was analysed using reporter gene assays. Genotyping was done in RA (n = 298), knee-OA (n = 277), and NC (n = 484) samples. For replication, significant associations were validated in a Finnish cohort (OA: n = 72, NC: n = 548). Initially, two SNPs were detected in the JUN promoter and two additional SNPs in the FOS promoter in perfect linkage disequilibrium (LD). JUN promoter SNP rs4647009 caused significant downregulation of reporter gene expression, whereas reporter gene expression was significantly upregulated in the presence of the FOS promoter SNPs. The homozygous genotype of FOS promoter SNPs showed an association with the susceptibility for knee-OA (odds ratio (OR) 2.12, 95% confidence interval (CI) 1.2^-3.7, p = 0.0086). This association was successfully replicated in the Finnish Health 2000 study cohort (allelic OR 1.72, 95% CI 1.2^-2.5, p = 0.006). FOS Promoter variants may represent relevant susceptibility markers for knee-OA.

Authors: René Huber, Holger Kirsten, Annu Näkki, Dirk Pohlers, Hansjörg Thude, Thorsten Eidner, Matthias Heinig, Korbinian Brand, Peter Ahnert, Raimund W. Kinne

Date Published: 1st Mar 2019

Publication Type: Journal article

Towards customer-induced service orchestration - requirements for the next step of customer orientation
Management of health information systems

Abstract

Not specified

Authors: Rainer Alt, Jan Fabian Ehmke, Reinhold Haux, Tino Henke, Dirk Christian Mattfeld, Andreas Oberweis, Barbara Paech, Alfred Winter

Date Published: 1st Mar 2019

Publication Type: Journal article

Plasma levels of apolipoproteins C-III, A-IV, and E are independently associated with stable atherosclerotic cardiovascular disease
Genetical Statistics and Systems Biology

Abstract (Expand)

BACKGROUND AND AIMS Dyslipidemia is a major risk factor for atherosclerotic cardiovascular disease (ASCVD). As key regulators of lipoprotein metabolism, apolipoproteins (apos) are discussed as vascular …r risk factors. This study aimed to analyze associations of major plasma apos with coronary artery disease (CAD), peripheral artery disease (PAD) and carotid artery plaque (CAP) to elucidate their diagnostic potential in risk assessment. METHODS ApoA-I, apoA-II, apoA-IV, apoB-100, apoC-I, apoC-III, apoE, and apoJ were simultaneously quantified in 3 \textgreekmL EDTA-plasma by LC-MS/MS in a case-control subgroup of the Leipziger LIFE-Heart Study (N = 911). Confounder analysis with demographic, clinical covariates and serum lipids, cardiac, inflammatory, and hepatic markers were performed. Apos were associated with CAD, CAP, and PAD in a multivariate regression model. RESULTS Fasting and statin therapy showed strongest effects on apo concentrations. Inverse correlations of HDL-related apos A-I, A-II, A-IV, and C-I were observed for troponin T and interleukin 6. Concentrations of apos A-II, B-100, C-I, and E were decreased under statin therapy. After adjustment for influencing factors and related lipids, only apoB-100 (odds ratio per one SD [OR], 1.39; 95% confidence interval [CI], 1.05-1.84) was independently associated with CAD while apoA-IV (OR, 0.74; 95% CI 0.58-0.95) indicated PAD. ApoB-100 (OR, 1.55; 95% CI, 1.18-2.04), apoC-III (OR, 1.30; 95% CI, 1.06-1.58), and apoE (OR, 1.34; 95% CI, 1.13-1.58) were associated with CAP. CONCLUSIONS Triglyceride rich lipoproteins (TRLs) associated apos A-IV, B-100, C-III, and E are independently associated with stable ASCVD, providing further evidence for a potential role of TRLs in atherogenesis.

Authors: Julia Dittrich, Frank Beutner, Andrej Teren, Joachim Thiery, Ralph Burkhardt, Markus Scholz, Uta Ceglarek

Date Published: 1st Feb 2019

Publication Type: Journal article

The GPRC5A frameshift variant c.183del is not associated with increased breast cancer risk in BRCA1 mutation carriers
GC-HBOC - German Consortium for Hereditary Breast and Ovarian Cancer

Abstract

Not specified

Authors: Kristina Klaschik, Jan Hauke, Guido Neidhardt, Christian Tränkle, Harald M. Surowy, Stefanie Heilmann-Heimbach, Gunter Rappl, Elisabeth Mangold, Norbert Arnold, Dieter Niederacher, Christian Sutter, Barbara Burwinkel, Christoph Engel, Barbara Wappenschmidt, Alfons Meindl, Corinna Ernst, Konstantin Weber-Lassalle, Nana Weber-Lassalle, Sandra Schmidt, Julika Borde, Rita K. Schmutzler, Eric Hahnen, Esther Pohl-Rescigno

Date Published: 4th Jan 2019

Publication Type: Journal article

Human Diseases: hereditary breast ovarian cancer syndrome

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