李新强
中国医学科学院阜外医院 检验科
BACKGROUND:The incidence of dilated cardiomyopathy (DCM) has increased in recent years, and many studies have sought to further improve the general understanding of this condition. Previous studies have demonstrated that some single nucleotide polymorphisms (SNPs) associated with systemic lupus erythematosus also affect susceptibility to DCM, suggesting that immune-related diseases may share similar genetic susceptibility. Recent large-scale and genome-wide association studies have identified NCR3, NOTCH4, CYP1A2, ITGA1, OPRM1, ST8SIA2, and LINC00704 as genetic risk factors associated with cardiac manifestations of neonatal lupus. Here, we aimed to determine whether these SNPs conferred susceptibility to DCM in the Chinese Han population.METHODS:We investigated the relationship between these polymorphisms and DCM risk in 273 patients with DCM and 548 healthy controls. Genotyping was performed using MassArray iPLEX system.RESULTS:Logistic regression analysis indicated that the T allele of rs3134942 in NOTCH4 gene increased the risk of DCM by 61% compared with the G allele (Pa = 6.57 × 10-3 ). The SNP rs3134942 was also significantly associated with increased DCM risk in the additive (Pa = 6.57 × 10-3 ) and dominant models (Pa = 1.01 × 10-2 ). Additionally, rs2472299 in CYP1A2 gene showed suggestive association with reduced risk of DCM in the dominant model (Pa = 4.24 × 10-2 ) and was correlated with smoking status in patients with DCM (Pa = 1.56 × 10-2 ).CONCLUSIONS:Our findings suggested that rs3134942 in NOTCH4 may be involved in DCM risk. Further, studies in larger and ethnically diverse populations are required to confirm the results reported in this study.
Journal of clinical laboratory analysis 2018
BACKGROUND:Serum chloride concentrations have clinical significance in the prognosis of heart failure (HF). Little is known regarding the prognostic value of serum chloride in patients with chronic heart failure (CHF). This study sought to investigate the prognostic ability of admission serum chloride for long-term mortality in CHF patients.METHODS:We identified 1021 consecutive patients diagnosed with CHF. Participants were followed up for all-cause mortality at 21 ± 9 months to establish the survival models and analyze the association between admission serum chloride concentrations and death risk.RESULTS:Of the 1021 patients, 905(88.6%) available cases were obtained. Admission serum chloride concentrations of patients were independently and inversely associated with long-term mortality (hazard ratio [HR]: 0.890; 95% CI: 0.863 to 0.918; p < 0.001). After multivariable risk adjustment for age, male sex, history of diabetes, LVEF, loop diuretic use, beta-blocker use, ACEI or ARB use, eGFR and NT-proBNP, chloride concentrations remained independently associated with mortality (HR:0.922; 95% CI:0.887 to 0.958; p < 0.001) but not independent of sodium concentrations (HR: 0.953; 95% CI: 0.900 to 1.009; p = 0.095). The optimal cut-off value of chloride concentrations predicting death was 102.8 mmol/l with an area under the curve (AUC) value of 0.686 (95% CI: 0.635 to 0.737; p < 0.001), with a sensitivity of 62% and specificity of 70%. The lower chloride concentrations could significantly increase the risk ratio of CHF patients in the setting of hyponatremia (p < 0.001). The cumulative survival estimates significantly differed across Na/Cl quartiles (log-rank χ2 19.14, p < 0.001), with higher mortality for higher Na/Cl ratio. Correlation analysis showed a positive correlation between serum chloride concentrations and sodium concentrations (r = 0.598; p < 0.001). An increased AUC was observed by combining chloride and sodium (AUC = 0.704, 95% CI:0.655-0.754, p < 0.001) compared to sodium only (AUC = 0.689, 95% CI:0.639-0.739, p < 0.001).CONCLUSIONS:In a Chinese Han population, admission serum chloride concentrations are inversely associated with all-cause mortality of CHF patients and provide incremental prognostic information of serum sodium.
Clinica chimica acta; international journal of clinical chemistry 2018
