Replication of genome-wide association studies on asthma and allergic diseases in Korean adult population

Allergic diseases such as asthma, allergic rhinitis, and atopicdermatitis are heterogeneous diseases characterized by multiplesymptoms and phenotypes. Recent advancements in geneticstudy enabled us to identify disease associated genetic factors.Numerous genome-wide association studies (GWAS) have revealedmultiple associated loci for allergic diseases. However,the majority of previous studies have been conducted in populationsof European ancestry. Moreover, the associations of singlenucleotide polymorphisms (SNPs) with allergic diseaseshave not been studied amongst the large-scale general Koreanpopulation. Herein, we performed the replication study to validatethe previous variants, known to be associated with allergicdiseases, in the Korean population. In this study, we categorizedthree allergic related phenotypes, one allergy and two asthmarelated phenotypes, based on self-reports of physician diagnosisand their symptoms from 8,842 samples. As a result, we foundnominally significant associations of 6 SNPs with at least one allergicrelated phenotype in the Korean population. [BMB reports2012; 45(5): 305-310

The effect of perinatal anxiety on bronchiolitis is influenced by polymorphisms in ROS-related genes

Exposure to perinatal anxiety affects disease susceptibility in offspring but studies on the association between perinatal anxiety and gene polymorphisms are lacking. This study aimed to elucidate the interaction between perinatal anxiety and polymorphisms in antioxidant defense and innate immunity genes on the development of respiratory tract infections (RTIs) during early infancy. Trait anxiety levels in 440 women were assessed by the State-Trait Anxiety Inventory during late gestation. The occurrence of RTIs, including bronchiolitis, during the first year of life was assessed by parent-reported doctor diagnosis. Polymorphisms in glutathione S-transferase P-1 (GSTP1, rs1695) and CD14 (rs2569190) were genotyped using the TaqMan assay. Copy number variations of GSTT1 were measured by real-time polymerase chain reaction. Exposure to high levels of perinatal anxiety increased the risk of bronchiolitis in the first year of life (adjusted odds ratio [aOR], 1.30; 95% confidence interval [CI]: 1.00–1.80), in particular among children with the AG + GG genotype of GSTP1 or the GSTT1 null genotype (aOR 3.36 and 2.79). In infants with the TC + CC genotype of CD14, high levels of perinatal anxiety were associated with an increased risk of upper RTI, lower RTI, and bronchiolitis (aOR 2.51, 4.60, and 4.31, respectively). Perinatal maternal anxiety levels affect the occurrence of bronchiolitis in offspring. The effect of perinatal anxiety on the occurrence of bronchiolitis during infancy was influenced by genetic polymorphisms in antioxidant defense and innate immunity genes

Is the Indicator Magnifying Window for Insulin Pens Helpful for Elderly Diabetic Patients?

Patients with type 2 diabetes who require insulin therapy are commonly elderly and have poor visual acuity. In this study, we examined the clinical usefulness of the indicator magnifying window (IMW) for elderly patients with type 2 diabetes. We recruited 50 patients with type 2 diabetes over the age of 60 who had used insulin pens for glucose control. They were asked to set the insulin pen at randomly selected doses with or without an IMW. We assessed dosing accuracy, convenience, self-confidence, need for eyeglasses, preference, and willingness to recommend the IMW to other patients. Although the IMW did not improve the dosing accuracy or convenience, it significantly decreased the need for eyeglasses. Overall, the clinical usefulness of the IMW is quite limited in elderly patients with type 2 diabetes

Subjective Assessment of Diabetes Self-Care Correlates with Perceived Glycemic Control but not with Actual Glycemic Control

BackgroundWe investigated whether patients' perceived glycemic control and self-reported diabetes self-care correlated with their actual glycemic control.MethodsA survey was administered among patients with diabetes mellitus at an outpatient clinic with structured self-report questionnaires regarding perceived glycemic control and diabetes self-management. Actual glycemic control was defined as a change in glycated hemoglobin (A1C) or fasting plasma glucose (FPG) since the last clinic visit.ResultsPatients who perceived their glycemic control as "improved" actually showed a mild but significant decrease in the mean A1C (-0.1%, P=0.02), and those who perceived glycemic control as "aggravated" had a significant increase in the mean FPG (10.5 mg/dL or 0.59 mmol/L, P=0.04) compared to the "stationary" group. However, one-half of patients falsely predicted their actual glycemic control status. Subjective assessment of diabetes self-care efforts, such as adherence to a diet regimen or physical activity, correlated positively with perceived glycemic control but showed no association with actual glycemic control.ConclusionPatients should be encouraged to assess and monitor diabetes self-care more objectively to motivate behavioral modifications and improve their actual glycemic control

Limited Diagnostic Utility of Plasma Adrenocorticotropic Hormone for Differentiation between Adrenal Cushing Syndrome and Cushing Disease

BackgroundMeasurement of the plasma adrenocorticotropic hormone (ACTH) level has been recommended as the first diagnostic test for differentiating between ACTH-independent Cushing syndrome (CS) and ACTH-dependent CS. When plasma ACTH values are inconclusive, a differential diagnosis of CS can be made based upon measurement of the serum dehydroepiandrosterone sulfate (DHEA-S) level and results of the high-dose dexamethasone suppression test (HDST). The aim of this study was to assess the utility of plasma ACTH to differentiate adrenal CS from Cushing' disease (CD) and compare it with that of the HDST results and serum DHEA-S level.MethodsWe performed a retrospective, multicenter study from January 2000 to May 2012 involving 92 patients with endogenous CS. The levels of plasma ACTH, serum cortisol, 24-hour urine free cortisol (UFC) after the HDST, and serum DHEA-S were measured.ResultsFifty-seven patients had adrenal CS and 35 patients had CD. The area under the curve of plasma ACTH, serum DHEA-S, percentage suppression of serum cortisol, and UFC after HDST were 0.954, 0.841, 0.950, and 0.997, respectively (all P<0.001). The cut-off values for plasma ACTH, percentage suppression of serum cortisol, and UFC after HDST were 5.3 pmol/L, 33.3%, and 61.6%, respectively. The sensitivity and specificity of plasma ACTH measurement were 84.2% and 94.3%, those of serum cortisol were 95.8% and 90.6%, and those of UFC after the HDST were 97.9% and 96.7%, respectively.ConclusionSignificant overlap in plasma ACTH levels was seen between patients with adrenal CS and those with CD. The HDST may be useful in differentiating between these forms of the disease, especially when the plasma ACTH level alone is not conclusive