Genetic Variants at 10p11 Confer Risk of Tetralogy of Fallot in Chinese of Nanjing

<div><p>A recent genome-wide association study (GWAS) has identified a new subset of susceptibility loci of Tetralogy of Fallot (TOF), one form of cyanotic congenital heart disease (CHD), on chromosomes 10p11, 10p14, 12q24, 13q31, 15q13 and 16q12 in Europeans. In the current study, we conducted a case-control study in a Chinese population including 1,010 CHD cases [atrial septal defect (ASD), ventricular septal defect (VSD) and TOF] and 1,962 controls to evaluate the associations of these loci with risk of CHD. We found that rs2228638 in <i>NRP1</i> on 10p11 was significantly increased the risk of TOF (OR = 1.52, 95% CI = 1.13–2.04, <i>P</i> = 0.006), but not in other subgroups including ASD and VSD. In addition, no significant associations were observed between the other loci and the risk of ASD, VSD or TOF. Our results suggested that the genetic variants on 10p11 may serve as candidate markers for TOF susceptibility in Chinese population.</p></div

Association results of 7 SNPs with CHD risk.

a<p>Major/minor alleles;</p>b<p>Minor homozygote/Heterozygote/Major homozygote;</p>c<p>Minor allele frequency;</p>d<p>OR (95% CI) and <i>P</i> value derived from logistic regression analysis in additive model.</p

Data_Sheet_1_Serum level of calpains product as a novel biomarker of acute lung injury following cardiopulmonary bypass.pdf

ObjectiveThe aim of this study was to test the hypothesis whether serum level of calpains could become a meaningful biomarker for diagnosis of acute lung injury (ALI) in clinical after cardiac surgery using cardiopulmonary bypass (CPB) technology.Methods and resultsSeventy consecutive adults underwent cardiac surgery with CPB were included in this prospective study. Based on the American-European Consensus Criteria (AECC), these patients were divided into ALI (n = 20, 28.57%) and non-ALI (n = 50, 71.43%) groups. Serum level of calpains in terms of calpains’ activity which was expressed as relative fluorescence unit (RFU) per microliter and measured at beginning of CPB (baseline), 1 h during CPB, end of CPB as well as 1, 12, and 24 h after CPB. Difference of serum level of calpains between two groups first appeared at the end of CPB and remained different at subsequent test points. Univariate and multivariate logistic regression analysis indicated that serum level of calpains 1 h after CPB was an independent predictor for postoperative ALI (OR 1.011, 95% CI 1.001, 1.021, p = 0.033) and correlated with a lower PaO2/FiO2 ratio in the first 2 days (The first day: r = -0.389, p ConclusionElevated serum level of calpains correlate with impaired lung function and poor clinical outcomes, indicating serum level of calpains could act as a potential biomarker for postoperative ALI following CPB in adults.Clinical trial registration[https://clinicaltrials.gov/show/NCT05610475], identifier [NCT05610475].</p