Effects of rapid growth in early childhood on metabolic and cardiovascular diseases among preschool-aged children.

BACKGROUND AND OBJECTIVES: To investigate whether the tempo of weight gain of children during infancy (from birth up to two years of age) or childhood (between two and five years old) is associated with metabolic and cardiovascular disease. METHODS AND STUDY DESIGN: Cluster sampling was employed to obtain a random sample of preschool children. In total, 1450 children aged five to six years participated in this survey. We obtained data on body weight, height, blood pressure (BP), and serum levels of total cholesterol, triglycerides, glucose, and uric acid, as well as anthropometry at birth and at age 2. RESULTS: The prevalence of obesity at five years old was 14.5%. At five years of age, children with rapid growth (change in body mass index, BMI z-score >0.67) during infancy had a higher odds ratio (OR) of childhood obesity (OR: 2.97 [95% CI: 2.15-4.11]) compared to children with non-rapid growth (change in BMI z-score ≤0.67). Also, children with rapid growth during childhood had a higher OR of childhood obesity (OR: 17.90 [95% CI: 12.31-26.04]), higher systolic BP (OR: 2.38 [95% CI: 1.68-3.39]), higher diastolic BP (OR: 2.42 [95% CI: 1.53-3.83]), and higher triglycerides (OR: 4.09 [95% CI: 1.47-11.33]) or hyperuricemia (OR: 2.23 [95% CI: 1.51-3.29]). CONCLUSIONS: Rapid growth in early childhood is associated with risk factors for both cardiovascular outcomes and metabolic outcomes among preschool children. Developing effective prevention and intervention programs for pre-school children might be important to reduce incidence of long-term metabolic and cardiovascular disease as adults.

The study of copy number variations in the regions of PRKAB2 and PPM1K among congenital heart defects patients.

OBJECTIVE: This study was to assess the genetic association of copy number variations in two genes (PRKAB2 and PPM1K) located in two regions (tetralogy of Fallot and ventricular septal defect) in a Chinese Han population. METHODS: A total of 200 congenital heart disease patients (100 tetralogy of Fallot patients and 100 ventricular septal defect patients) and 100 congenital heart defect-free controls were recruited, and quantitative real-time PCR analysis was used to replicate the association of two copy number variations with congenital heart defects in a Chinese Han population. RESULTS: One deletion at PRKAB2 and one duplication at PPM1K were found in two of the tetralogy of Fallot patients, respectively; while all these regions were duplicated in both ventricular septal defect patients and in the 100 congenital heart defects-free controls. CONCLUSIONS: We replicated the copy number variations at the disease-candidate genes of PRKAB2 and PPM1K with tetralogy of Fallot in a Chinese Han population, and in patients with ventricular septal defect mutations in these two genes were not found. These results indicate the same molecular population genetics exist in these two genes with different ethnicity. This shows that these two genes are possibly specific pf tetralogy of Fallot candidates.

The study of copy number variations in the regions of PRKAB2 and PPM1K among congenital heart defects patients

SUMMARY OBJECTIVE: This study was to assess the genetic association of copy number variations in two genes (PRKAB2 and PPM1K) located in two regions (tetralogy of Fallot and ventricular septal defect) in a Chinese Han population. METHODS: A total of 200 congenital heart disease patients (100 tetralogy of Fallot patients and 100 ventricular septal defect patients) and 100 congenital heart defect-free controls were recruited, and quantitative real-time PCR analysis was used to replicate the association of two copy number variations with congenital heart defects in a Chinese Han population. RESULTS: One deletion at PRKAB2 and one duplication at PPM1K were found in two of the tetralogy of Fallot patients, respectively; while all these regions were duplicated in both ventricular septal defect patients and in the 100 congenital heart defects-free controls. CONCLUSIONS: We replicated the copy number variations at the disease-candidate genes of PRKAB2 and PPM1K with tetralogy of Fallot in a Chinese Han population, and in patients with ventricular septal defect mutations in these two genes were not found. These results indicate the same molecular population genetics exist in these two genes with different ethnicity. This shows that these two genes are possibly specific pf tetralogy of Fallot candidates.

RESUMO OBJETIVO: Este estudo teve como objetivo avaliar a associação genética do número de cópias em dois genes (PRKAB2 e PPM1K) localizados em duas regiões (tetralogia de Fallot e comunicação interventricular) em uma população chinesa da etnia Han. METODOLOGIA: Um total de 200 pacientes com doença cardíaca congênita (100 pacientes com tetralogia de Fallot e 100 com comunicação interventricular) e 100 indivíduos livres de defeitos cardíacos congênitos foram recrutados, e uma análise quantitativa de PCR em tempo real foi utilizada para replicar a associação de duas variações de número de cópia de defeitos cardíacos congênitos, em uma população chinesa da etnia Han. RESULTADOS: Uma supressão em PRKAB2 e duplicação em PPM1K foram encontradas em dois pacientes com tetralogia de Fallot, respectivamente; todas essas regiões estavam duplicadas nos pacientes com comunicação interventricular e nos 100 indivíduos livres de defeitos cardíacos congênitos. CONCLUSÃO: Nós replicado a variações no número de cópias de genes candidatos de doença PRKAB2 e PPM1K com tetralogia de Fallot em uma população chinesa da etnia Han; em pacientes com comunicação interventricular, não foram encontradas mutações nesses dois genes. Estes resultados indicam que a mesma genética de população molecular existe nestes dois genes em diferentes etnias. Isso mostra que esses dois genes são possivelmente candidatos a genes específicos de tetralogia de Fallot.