Application of genetic polymorphism & gene experience of RSPONDIN3 as biomarker of cardiometabolic traits associated with or without obesity in sample of Sudanese patients in Khartoum state.

Abstract

ABSTRACT Obesity is a major risk factor for the development of cardiovascular disease. A growing database of clinical evidence implicates intra-abdominal adiposity as a powerful driving force for elevated cardiometabolic risk. Addressing intra-abdominal adiposity should play a central role in future strategies aimed at improving cardiovascular outcomes in patients with abdominal obesity and its associated cardiometabolic risk in Sudan.This research is focusing on a particular gene called RSPONDIN3, which is play a part in controlling fat distribution, cardiac growth through modulation of Wnt (Wnt/β-catenin signaling path way) signaling R-SPONDIN3 is essential for coronary artery formation in the developing heart. The study was including (300) participants (156 males and 144 females) classified into (3) groups. The first group was including (100) participants with abdominal obesity (obese), the second group was including (100) participants already diagnosed with CVD entangled with obesity (Heart Group as positive control group), while the third group was including (100) healthy lean volunteers (negative control group). All the participants their age group between (27 to 63 years) old. BMI and WHR were taken for all subjects too. The study was carried out during the period from August 2016 to March 2019. For detection the mutation in RSPO3 gene, Conventional PCR was done for control, obesity and heart subjects respectively and followed by Real Time PCR for all of them to measure the amount of gene expression. The findings of this study showed Conventional PCR results were significantly different (P <0.001) in heart group subjects as compared to healthy controls and obese group. Among heart group, mutation was detected in some subjects (19%) and the rest without mutation (81%) but in obese group no mutation was detected. Comparison between the different studied groups according to gene expression showed significant differences (P <0.001) mean value of gene expression in healthy group subjects was (1.0 ± 0.0), Obesity group was (2.44 ± 0.50) and heart group subjects was (4.54 ± 0.87) respectively. The result of the current study adopted that there was correlation between mutation in RSPONDIN3 gene and abdominal obesity but this mutation was showed only in heart group so the mutation of R-SPONDIN3 has significant effect in obese patients whom having CVD and noV mutant SPONDIN3 gene in obese . Also the amount of R-SPONDIN3 gene expression among the obese and CVD patients revealed significant difference and the amount of gene expressing among the CVD patients is higher than obese which is suggested that the amount of gene expressed in obese patients with heart disease more than obese patients without cardiovascular complications .Also the results showed a weak correlation between the amount of genes expressed among obese and CVD patients with BMI, WHR and age. Also the elevated the amount of gene expressed has significant affect on the fat phenotype (Visceral fat and subcutaneous fat) and was insignificant on Gluteal Fat. Key Words: R-SPONDIN3 gene, abdominal Obesity, CVD.VI ٍِ