@article{KellerLeidingerVogeletal.2014,
  author    = {Keller, Andreas and Leidinger, Petra and Vogel, Britta and Backes, Christina and ElSharawy, Abdou and Galata, Valentina and Mueller, Sabine C. and Marquart, Sabine and Schrauder, Michael G. and Strick, Reiner and Bauer, Andrea and Wischhusen, J{\"o}rg and Beier, Markus and Kohlhaas, Jochen and Katus, Hugo A. and Hoheisel, J{\"o}rg and Franke, Andre and Meder, Benjamin and Meese, Eckart},
  title     = {miRNAs can be generally associated with human pathologies as exemplified for miR-144*},
  series = {BMC MEDICINE},
  volume    = {12},
  journal   = {BMC MEDICINE},
  issn      = {1741-7015},
  doi       = {10.1186/s12916-014-0224-0},
  url       = {http://nbn-resolving.de/urn:nbn:de:bvb:20-opus-114349},
  pages     = {224},
  year      = {2014},
  abstract  = {Background: miRNA profiles are promising biomarker candidates for a manifold of human pathologies, opening new avenues for diagnosis and prognosis. Beyond studies that describe miRNAs frequently as markers for specific traits, we asked whether a general pattern for miRNAs across many diseases exists. Methods: We evaluated genome-wide circulating profiles of 1,049 patients suffering from 19 different cancer and non-cancer diseases as well as unaffected controls. The results were validated on 319 individuals using qRT-PCR. Results: We discovered 34 miRNAs with strong disease association. Among those, we found substantially decreased levels of hsa-miR-144* and hsa-miR-20b with AUC of 0.751 ( 95\% CI: 0.703-0.799), respectively. We also discovered a set of miRNAs, including hsa-miR-155*, as rather stable markers, offering reasonable control miRNAs for future studies. The strong downregulation of hsa-miR-144* and the less variable pattern of hsa-miR-155* has been validated in a cohort of 319 samples in three different centers. Here, breast cancer as an additional disease phenotype not included in the screening phase has been included as the 20th trait. Conclusions: Our study on 1,368 patients including 1,049 genome-wide miRNA profiles and 319 qRT-PCR validations further underscores the high potential of specific blood-borne miRNA patterns as molecular biomarkers. Importantly, we highlight 34 miRNAs that are generally dysregulated in human pathologies. Although these markers are not specific to certain diseases they may add to the diagnosis in combination with other markers, building a specific signature. Besides these dysregulated miRNAs, we propose a set of constant miRNAs that may be used as control markers.},
  language  = {en}
}
@article{ZopfFreyKienitzetal.2017,
  author    = {Zopf, Kathrin and Frey, Kathrin R. and Kienitz, Tina and Ventz, Manfred and Bauer, Britta and Quinkler, Marcus},
  title     = {\(Bcl\)I polymorphism of the glucocorticoid receptor and adrenal crisis in primary adrenal insufficiency},
  series = {Endocrine Connections},
  volume    = {6},
  journal   = {Endocrine Connections},
  number    = {8},
  doi       = {10.1530/EC-17-0269},
  url       = {http://nbn-resolving.de/urn:nbn:de:bvb:20-opus-173276},
  pages     = {685-691},
  year      = {2017},
  abstract  = {Context: Patients with primary adrenal insufficiency (PAI) or congenital adrenal hyperplasia (CAH) are at a high risk of adrenal crisis (AC). Glucocorticoid sensitivity is at least partially genetically determined by polymorphisms of the glucocorticoid receptor (GR). Objectives: To determine if a number of intercurrent illnesses and AC are associated with the GR gene polymorphism \(Bcl\)I in patients with PAI and CAH. Design and patients: This prospective, longitudinal study over 37.7 ± 10.1 months included 47 PAI and 25 CAH patients. During the study period, intercurrent illness episodes and AC were documented. Results: The study period covered 223 patient years in which 21 AC occurred (9.4 AC/100 pat years). There were no significant differences between \(Bcl\)I polymorphisms (CC (n=29), CG (n=34) and GG (n=9)) regarding BMI, hydrocortisone equivalent daily dose and blood pressure. We did not find a difference in the number of intercurrent illnesses/patient year among \(Bcl\)I polymorphisms (CC (1.5±1.4/pat year), CG (1.2±1.2/pat year) and GG (1.6±2.2/pat year)). The occurrence of AC was not significantly different among the homozygous (GG) genotype (32.5 AC/100 pat years), the CC genotype (6.7 AC/100 pat years) and the CG genotype (4.9 AC/100 pat years). Concomitant hypothyroidism was the highest in the GG genotype group (5/9), compared to others (CC (11/29) and CG (11/34)). Conclusions: Although sample sizes were relatively small and results should be interpreted with caution, this study suggests that the GR gene polymorphism \(Bcl\)I may not be associated with the frequencies of intercurrent illnesses and AC.},
  language  = {en}
}