Analysis of the differences in whole-genome expression related to asthma and obesity

Introduction Concomitant obesity significantly impairs asthma control. Obese asthmatics show more severe symptoms and an increased use of medications. Objectives The primary aim of the study was to identify genes that are differentially expressed in the peripheral blood of asthmatic patients with obesity, asthmatic patients with normal body mass, and obese patients without asthma. Secondly, we investigated whether the analysis of gene expression in peripheral blood may be helpful in the differential diagnosis of obese patients who present with symptoms similar to asthma. Patients and methods The study group included 15 patients with asthma (9 obese and 6 normal-weight patients), while the control group-13 obese patients in whom asthma was excluded. The analysis of whole-genome expression was performed on RNA samples isolated from peripheral blood. Results The comparison of gene expression profiles between asthmatic patients with obesity and those with normal body mass revealed a significant difference in 6 genes. The comparison of the expression between controls and normal-weight patients with asthma showed a significant difference in 23 genes. The analysis of genes with a different expression revealed a group of transcripts that may be related to an increased body mass (PI3, LOC100008589, RPS6KA3, LOC441763, IFIT1, and LOC100133565). Based on gene expression results, a prediction model was constructed, which allowed to correctly classify 92% of obese controls and 89% of obese asthmatic patients, resulting in the overall accuracy of the model of 90.9%. Conclusions The results of our study showed significant differences in gene expression between obese asthmatic patients compared with asthmatic patients with normal body mass as well as in obese patients without asthma compared with asthmatic patients with normal body mass

Differences in gene expression related to the outcomes of obesity treatment, peak oxygen uptake, and fatty acid metabolism measured in a cardiopulmonary exercise test

INTRODUCTION The obesity pandemic requires development of methods that could be used on a large scale, such as the cardiopulmonary exercise test (CPET). Gene expression may explain CPET results on the molecular level. OBJECTIVES The aim of this study was to compare gene expression in obesity, depending on CPET results. PATIENTS AND METHODS The study group consisted of 9 obese patients and 7 controls. The treatment encompassed diet, rehabilitation, and behavioral therapy. Diet was based on the body composition analyzed by bioelectrical impedance, resting metabolic rate, and subjective patient preferences. The rehabilitation depended on the CPET results: maximal oxygen uptake and fatty acid metabolism. Behavioral intervention focused on the diagnosis of health problems leading to obesity, lifestyle modification, training in self-assessment, and development of healthy habits. The intensive treatment lasted for 12 weeks and consisted of consultations with a physician, dietitian, and medical rehabilitation specialist. RNA was isolated from the whole blood. A total of 47 323 transcripts were analyzed, of which 32 379 entities were confirmed to have high quality of RNA. RESULTS We observed differences in gene expression related to the CPET results indicating abnormalities in fat oxidation and maximal oxygen uptake. The genes with major differences in expression were: CLEC12A, HLA-DRB1, HLA-DRB4, HLA-A29.1, IFIT1, and LOC100133662. CONCLUSIONS The differences in gene expression may account for the outcomes of treatment related to inflammation caused by obesity, which affects the muscles, fat tissue, and fatty acid metabolism

Differences in gene expression related to the outcomes of obesity treatment, peak oxygen uptake, and fatty acid metabolism measured in a cardiopulmonary exercise test

INTRODUCTION The obesity pandemic requires development of methods that could be used on a large scale, such as the cardiopulmonary exercise test (CPET). Gene expression may explain CPET results on the molecular level. OBJECTIVES The aim of this study was to compare gene expression in obesity, depending on CPET results. PATIENTS AND METHODS The study group consisted of 9 obese patients and 7 controls. The treatment encompassed diet, rehabilitation, and behavioral therapy. Diet was based on the body composition analyzed by bioelectrical impedance, resting metabolic rate, and subjective patient preferences. The rehabilitation depended on the CPET results: maximal oxygen uptake and fatty acid metabolism. Behavioral intervention focused on the diagnosis of health problems leading to obesity, lifestyle modification, training in self-assessment, and development of healthy habits. The intensive treatment lasted for 12 weeks and consisted of consultations with a physician, dietitian, and medical rehabilitation specialist. RNA was isolated from the whole blood. A total of 47 323 transcripts were analyzed, of which 32 379 entities were confirmed to have high quality of RNA. RESULTS We observed differences in gene expression related to the CPET results indicating abnormalities in fat oxidation and maximal oxygen uptake. The genes with major differences in expression were: CLEC12A, HLA-DRB1, HLA-DRB4, HLA-A29.1, IFIT1, and LOC100133662. CONCLUSIONS The differences in gene expression may account for the outcomes of treatment related to inflammation caused by obesity, which affects the muscles, fat tissue, and fatty acid metabolism

Results from a Genome-Wide Association Study (GWAS) in Mastocytosis Reveal New Gene Polymorphisms Associated with WHO Subgroups

Mastocytosis is rare disease in which genetic predisposition is not fully understood. The aim of this study was to analyze associations between mastocytosis and single nucleotide polymorphisms (SNPs) by a genome-wide association study (GWAS) approach. A total of 234 patients were enrolled in our study, including 141 with cutaneous mastocytosis (CM; 78 children and 63 adults) and 93 with systemic mastocytosis (SM, all adults). The control group consisted of 5606 healthy individuals. DNA samples from saliva or blood were genotyped for 551 945 variants using DNA microarrays. The prevalence of certain SNPs was found to vary substantially when comparing patients and healthy controls: rs10838094 of5OR51Q1was less frequently detected in CM and SM patients (OR = 0.2071,p= 2.21 x 10(-29)), rs80138802 inABCA2(OR = 5.739,p= 1.98 x 10(-28)),and rs11845537 inOTX2-AS1(rs11845537, OR = 6.587,p= 6.16 x 10(-17)) were more frequently detected in CM in children and adults. Additionally, we found that rs2279343 inCYP2B6and rs7601511 inRPTNare less prevalent in CM compared to controls. We identified a number of hitherto unknown associations between certain SNPs and CM and/or SM. Whether these associations are clinically relevant concerning diagnosis, prognosis, or prevention remains to be determined in future studies