Vascular endothelial growth factor C/A 2578 gene polymorphism and umbilical artery Doppler in preeclamptic women.

INTRODUCTION: Preeclampsia is strongly associated with placental hypoperfusion. Genetic factors have an impact on the pathogenesis of preeclampsia. The aim is to assess the association of Vascular Endothelial Growth Factor (C2578A) gene polymorphism with the occurrence and severity of preeclampsia and the umbilical artery Doppler changes among preeclamptic women. MATERIALS AND METHODS: This case-control study was conducted in clinical and Chemical pathology and Obstetrics departments in Beni- Suef University, Egypt. Two hundred and ninety pregnant women above 20 weeks gestational age until delivery were divided into 2 main groups. The patient group included 145 preeclamptic women who were further sub grouped according to the severity of preeclampsia into 82 severe and 63 mild cases. Control group included 145 normotensive pregnant women. Our primary outcome was detection of VEGF C 2578 A gene mutations by a polymerase chain reaction. A secondary outcome was Doppler changes in the pulsatility index of the umbilical artery compared with VEGF genotypes. RESULTS: Our study showed that VEGF C 2578 A genotype and alleles frequencies were not related to the occurrence of preeclampsia (p-value 0.513 and 0.549, respectively), odds ratio (95%CI) 1.154 (0.724-1.848). Mild preeclamptic cases showed no significance comparing VEGF genotypes studied and pulsatility index of the umbilical artery. However, severe cases showed p-value < 0.0001. CONCLUSION: We concluded that VEGF 2578C/A polymorphism had no association with the occurrence of preeclampsia in studied groups, whereas there was a significant relationship among severe cases between CA and CC genotypes and pulsatility index of the umbilical artery.

Association of -308G/A Polymorphism and Serum Level of TNF- α with Bronchial asthma in Children.

Genetic polymorphism of Tumor necrosis factor alpha (TNF-α)-308 G/A is one of the potential markers involved in bronchial asthma pathogenesis. This highly polymorphic gene can influence TNF-α serum levels which has major biological effects on airway inflammation, remodeling, and hyper responsiveness. This study was designed to evaluate the association between TNF-α-308 G/A polymorphism, serum levels of TNF-α and the susceptibility to bronchial asthma in children. The study included 102 pediatric patients with bronchial asthma recruited from Pediatric Allergy and Pulmonology Clinic, Specialized Pediatric Beni Suef University Hospital. Bronchial asthma was classified according to Global Initiative for Asthma (GINA) Guidelines. Moreover, 104 healthy age and sex matched children were enrolled as normal control. Serum TNF-α was measured by ELISA. Analysis of TNF-alpha G308A Polymorphisms was done by allele- specific Polymerase Chain Reaction (PCR). TNF-α level was significantly higher in bronchial asthma patients when compared with the control group, p value 0.001. Individuals with mutant genotype (GA and AA) expressed higher levels of serum TNF-α in comparison to the wild type GG carriers, P value 0.01. The GA genotype frequency of TNF-α-308 G > A polymorphism was significantly higher in patients (34.3%) than (vs.) controls (21.2%) P value 0.028, OR = 2.04; 95% CI = 1.11-3.84. The frequency of combined (AA + GA) genotypes showed a significant difference among cases in comparison with the controls (41.2% vs. 26%), p value 0.027. The pooled OR was 1.99(95% CI=1.1-3.6). In the same context, the A allele was significantly more frequent in asthmatic patients (24%) vs. control (15.4%), P value 0.035 (OR = 1.74, 95% CI = 1.05-2.8) which demonstrated an evidence of possible association between TNF-α-308 G/A polymorphism and bronchial asthma. We concluded that TNF-alpha genetic polymorphisms could have a role in the development of bronchial asthma among Egyptian children.