Coronary artery disease (CAD) is a multifactorial disease resulting from the interaction of genetic varia-tion and environmental traditional risk factors (TRFs), including diabetes mellitus, smoking, dyslipidemia, and hypertension. KIF6 Trp719Arg (rs20455; A>G) is an interesting gene variant reported as one of the most important risk factors for CAD in different populations. The study enrolled 150 participants belong-ing to the National Heart Institute (NHI) catheterization unit in Egypt, who were grouped into three main study groups regarding the presence of different TRFs. Biochemical investigations and clinical data were assessed and recorded. Analysis for KIF6 Trp719Arg polymorphism (rs20455; A>G) was performed for all participants using the TaqMan genotyping real-time PCR assay (rs20455). The study demonstrated that diabetes mellitus, hypertension, dyslipidemia, and smoking were highly statistically significant among CAD with TRF and non-CAD with TRF patients with p-values of 0.009*, 0.003*, 0.046*, and 0.001**, re-spectively. The family history of premature CAD represents a high percentage of CAD without TRF pa-tients compared to the other groups with a statistical difference of p-value= 0.004*. A high prevalence of AG+GG genotypes among the different groups was obtained, representing 66.0% of CAD with TRF, 76.0% of CAD without TRF, and 60% of non-CAD with TRF patients. The present study elucidated the impact of KIF6 Trp719Arg as a dependent risk factor for CAD, as it could have a significant role in CAD develop-ment when it interacts with one or more of the other traditional risk factors.
Genetics and epi-genetic alterations trigger the development of non-alcoholic fatty liver disease (NAFLD). Patatin-like phospholipase domain-containing protein 3 (PNPLA3) gene is known to be a key regulator of lipid metabolism in the liver and is expressed in both adipocytes and hepatocytes. The aim is to evaluate the association between two single nucleotide polymorphism (SNPs) of PNPLA3 gene and NAFLD, and their relation to the degree of hepatic steatosis and fibrosis. Eighty individuals were selected and divided into two groups according to ultrasound finding of steatosis; a test group of 40 patients with bright liver and a group of 40 healthy subjects with normal liver. Steatosis was quantified by controlled attenuation parameter (CAP). Fibrosis assessment was done by fibrosis-4 (FIB-4), NAFLD fibrosis score, Fast score and Fibroscan. Complete blood count, liver enzymes, fasting blood glucose, and lipid profile were performed. Genomic DNA was isolated from blood. rs738409 C>G SNP of the PNPLA3 gene was determined via PCR-RFLP while rs139051 (A>G) polymorphism of the PNPLA3 gene was detected using TaqMan genotyping assay. GG genotype was significantly related to the presence of NAFLD (P=0.043) while the homozygous wild type (CC) was the common genotype among healthy controls. There was a significant association between the presence of the G allele (46.3%) in the PNPLA3 (I148 M) polymorphism and the presence of NAFLD (P <0.001). However, rs139051 PNPLA3 AG genotype was the most frequent genotype in both patients with NAFLD (82.5%) and healthy controls (85%). No significant correlation was found between any of the variants of both genotypes and the degrees of both steatosis and fibrosis detected by CAP and Fibroscan respectively. In conclusion, PNPLA3 gene polymorphism rs738409 but not rs139051 is significantly associated with NAFLD patients with simple steatosis. This blood test could serve as a screening tool for simple steatosis which warrants earlier follow-up and further intensive therapies.
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