No association between CALCA polymorphisms and clinical outcome or serum procalcitonin levels in German polytrauma patients
CYTOKINE
Authors: Hildebrand, Frank; Kalmbach, Matthias; Kaapke, Andrea; Krettek, Christian; Stuhrmann, Manfred
Abstract
Purpose: Procalcitonin (PCT) is accepted to be a relevant prognostic marker for the development of clinical complications in multiple trauma patients. Therefore, a prospective cohort study was conducted to investigate whether polymorphisms in the calcitonin (CALCA) gene are associated with PCT levels and posttraumatic complications. Methods: During a 14 day observation period, blood samples were drawn once daily for systemic PCT concentrations in multiple trauma patients (Injury Severity Score >16). For analysis of allele frequencies, genotype distribution and PCT concentrations polytraumatized patients were separated, according to the development of SIRS, sepsis, septic shock, ARDS, MODS and mortality. Furthermore, association between CALCA polymorphisms and PCT plasma concentrations was assessed. Results: One hundred thirty seven patients with a mean ISS of 29.2 +/- 12.1 were included. When trauma patients were grouped according to different posttraumatic complications no association with CALCA SNPs was observed. Additionally, no association was found between CALCA polymorphisms and systemic PCT levels. Conclusion: CALCA polymorphisms are unlikely to influence clinical outcome in polytraumatized patients. Effects of microbial and inflammatory mediators, as well as other risk factors (gender, age, etc.) seem to have a more significant influence on the transcriptional regulation of CALCA and on PCT plasma concentrations than CALCA polymorphisms. (C) 2009 Elsevier Ltd. All rights reserved.
Genetic predictors associated with diabetic retinopathy in patients with diabetic foot
POLISH ARCHIVES OF INTERNAL MEDICINE-POLSKIE ARCHIWUM MEDYCYNY WEWNETRZNEJ
Authors: Mrozikiewicz-Rakowska, Beata; Lukawska, Magdalena; Nehring, Piotr; Szymanski, Konrad; Sobczyk-Kopciol, Agnieszka; Krzyzewska, Monika; Maroszek, Pawel; Ploski, Rafal; Czupryniak, Leszek
Abstract
INTRODUCTION Early detection of diabetic retinopathy (DR) is crucial for preventing irreversible blindness. Recent studies identified some of the genetic factors involved in the pathology of DR, although their precise underlying mechanisms remain unclear. OBJECTIVES This pilot study aimed to determine genetic predictors of DR among patients with type 2 diabetes (T2D) and diabetic foot (DF) based on pathogenetic pathways. PATIENTS AND METHODS The study included 114 patients with T2D and DF (64 with DR, 50 without DR). Genetic analysis was performed for each patient and the following alterations were analyzed: rs759853 (AKR1B1), rs1800469 (TGFB1), rs2073618 and rs3134069 (TNFRSF11B), rs6330 and rs11466112 (NGF), rs1801133 (MTHFR), rs8192678 (PPARGC1A), rs1799983 (NOS3), rs1553005 (CALCA), and rs121917832 (CDKN1B). RESULTS Correlations with DR were identified for the following single nucleotide variants (SNVs): rs759853, rs2073618, and rs3134069. Carriers of the G allele of the rs759853 variant had a higher risk of DR in the dominant model (odds ratio [OR], 3.0; 95% confidence interval [CI], 1.15-7.81; P = 0.02). We analyzed 2 SNVs of the osteoprotegerin gene (rs3134069 and rs2073618), and found that the A allele of the rs3134069 variant decreased the risk of DR in both the recessive and additive models (OR, 3.33; 95% CI, 1.07-10.3; P = 0.04). Conversely, there were fewer carriers of the C allele of the rs2073618 variant in patients with DR in the dominant model (OR, 0.28; 95% CI, 0.09-0.92; P = 0.04). CONCLUSIONS The results of our study suggest that the SNVs rs759853, rs3134069, and rs2073618 may be involved in the development of DR in patients with T2D and DF.