Lipoprotein Lipase (LPL) is known to be a key enzyme for lipid metabolism specifically in an enzymatic glycoprotein which provide tissues without fatty-acids and eliminates triglycerides (TG) by the circulation. Mutations in LPL were proven to cause alteration in fractions within lipoprotein, causing the development of atherosclerosis which predispose to weakening coronary artery disease (CAD) and stroke. We examined the linkage between genetic variant HindIII in LPL on lipoprotein fractions, stroke occurrences and CAD. In this case-control study, we have recruited 315 CAD cases and 205 age-matched controls. A total of 520 genomic DNA was digested with the purified PCR products for restriction fragment length polymorphism with HindIII restriction enzyme. The distribution of genotypes in a decreasing order were TT, 148 (47%), GT 135 (42.9%) and GG 32 (10.2%) in CAD groups of the study while the pattern in controls were GT 91 (44.4%), TT 86 (42%) and GG 28 (13.7%). None of all the allele or genotype frequencies were found to be significant in our study (p greater than 0.05), while the biochemical levels for both TG and LDL-c were shown to be prone in CAD patients when compare with the controls. Furthermore, the occurence of strokes were more in CAD groups vs. controls: 72 (22.9%) vs. 7 (3.4%) [p 0.000]. This could indicate the influence of HindIII variant on plasma lipid levels, and the possibility of considering it a risk factor for atherosclerosis leading to CAD and stroke occurrence.

Background: Sepsis is a potentially life-threatening condition that eventually causes multiorgan dysfunction in critically ill patients. Acute kidney injury (AKI) is a severe life-threatening complication of sepsis, a condition termed sepsis-induced AKI (S-AKI), with poor clinical outcomes and high mortality rates. Inflammatory and immunological responses are important variables in S-AKI. This study aimed to examine the relationship of rs1518111 polymorphism in the interleukin-10 (IL-10) gene and serum/urine IL-10 levels with sepsis-induced AKI in critically ill patients in the intensive care unit (ICU). Methods: In this cross-sectional study, 310 critically ill adult patients were recruited, of whom, 197 developed S-AKI. Real-time polymerase chain reaction was performed to detect the rs1518111 polymorphism. Circulating blood and urine IL-10 levels of IL-10 were measured. Results: For rs1518111 SNP, the presence of at least one T allele increased the risk of occurrence of S-AKI (odds ratio [OR]: 1.34, 95% CI: 1.07-3.17; p < 0.001), regardless of the type of infection and severity of sepsis. Blood and urine IL-10 levels were an excellent prediction of S-AKI (area under the receiver operating characteristic curve [AUC]: 0.881 and 0.953 and sensitivity: 90.2% and 97.6% at cutoff of 133.5 and 5.67 pg/mL, respectively). Regression analysis showed that white blood cell count and increased blood and urine IL-10 levels, in addition to the presence of TT genotype, are independent risk factors for S-AKI. Conclusion: rs1518111 polymorphism in the IL-10 gene is a risk factor for sepsis-induced AKI in the ICU. Serum/urine IL-10 levels may be used as predictors of S-AKI in critically ill patients with sepsis, thereby improving early management.

Background. Coronary artery diseases may be affected by several genetic and nongenetic factors. Single‐nucleotide polymorphism (SNP) rs599839 and type 2 diabetes mellitus (T2DM) can affect the occurrence and severity of coronary artery disease (CAD). Methods. Our aim was to investigate how T2DM and the rs599839 variant affected serum lipid levels and the degree of CAD patients’ coronary artery stenosis. rs599839 polymorphism genotyping was done on Saudi patients with coronary angiography performed previously. Patients enrolled were divided into group A (360 DM patients), group B (225 DM patients with CAD), and group C (190 healthy volunteers as control). Results. Individuals with diabetes and CAD who possessed the GG genotype in rs599839 exhibited markedly reduced means of total cholesterol (TC), low‐density lipoprotein cholesterol (LDL‐C), and triglycerides (TG; 224.5, 116.2, and 221.4 versus 251.6, 131.3, and 261.7 mg/dl, p = 0.003, 0.007, and 0.025, respectively) than AA genotype. The odds ratio and the confidence interval of 95% for G allele carriers of rs599839 were OR = 0.62, 95% CI: 0.41–0.82, and p = 0.003, among diabetic patients with CAD. Conclusions. In patients with diabetic CAD, the locus 1p13.3 polymorphism rs599839 was found to be substantially correlated with serum lipid levels. Furthermore, among Saudi patients with diabetes, the G allele of rs599839 variant lowers the CAD risk.

Background: Ischemic injury is a common mechanism in both ischemic stroke (IS) and acute coronary syndrome (ACS). Matrix metalloproteinase 9 (MMP-9), an endopeptidase that degrades extracellular matrix, is important in the pathogenesis of IS. The purpose of this study is to evaluate the association between the SNP rs17576 in MMP9 gene with (1) the risk and severity of acute ischemic stroke in Saudi Arab individuals with recent acute coronary syndrome, and (2) the risk of acute coronary syndrome in Saudi Arab individuals without ischemic stroke. Methods: A case control study of 200 IS patients, 520 ACS patients (without IS), and 500 aged-matched healthy controls were genotyped to detect the MMP-9 polymorphism rs17156. Results: Our study demonstrated a non-significant difference in the genotype and allele frequencies of the MMP9 rs17576 polymorphism between the patients with IS and patients with ACS without IS (P = 0.31 for the GA genotype, 0.25 for the AA genotype and P = 0.20 for the A allele). AA genotype was found to be statistically significant between IS and control groups; [OR =1.84, 95 % CI (1.08-3.14), p =0.015]. A allele showed a significant difference between the two groups [OR =1.28, 95 % CI (1.00-1.64), p =0.028]. By comparing ACS without IS and controls, AA genotype was significant [OR =1.46, 95 % CI (1.01 -2.12), p =0.029]. Stratification by NIHSS score revealed higher mortality and early neurologic deterioration in IS patients with NIHSS score >= 16 ( p < 0.001, 0.044 respectively). Conclusion: We deduced the lack of association either with allele or genotype frequencies (p >0.05) between the IS cases and the cases of ACS without IS. In contrast there was a significant association of mutant genotype AA between either the IS group or ACS (without IS) group, and the control group. In addition, different rs17576 genotypes were not associated with raised mortality or a tendency to develop early neurologic deterioration.

Purpose: Coronary artery disease (CAD) is one of the most important leading causes of morbidity and mortality worldwide. Few studies have been carried out in the Saudi population regarding the association of rs10757278 polymorphism with CAD. This study aimed to investigate the association of the rs10757278 polymorphism with CAD in Saudi population. Materials and Methods: In this case-control study, we recruited 437 patients with CAD and 251 cross-matched healthy controls and performed polymorphism genotyping for rs10757278 using a polymerase chain reaction followed by a restriction fragment length polymorphism analysis. Results: The G allele (OR-1.44; 95% CI: 1.15– 1.80; p=0.001), as GG (OR-2.13; 95% CI: 1.35– 3.36; p=0.0009), in the dominant (OR-1.47; 95% CI: 1.03– 2.10; p=0.03) and recessive mode (OR-1.84; 95% CI: 1.26– 2.70; p=0.001) of inheritance showed a high-risk association. A disease stratified risk analysis was conducted and comparisons were made using an ANOVA analysis. Diabetes showed a risk association (p=0.001). However, a regression analysis confirmed that for the CAD cases, there was an association between the GG genotype and diabetes (p=0.005). Conclusion: The results of this study suggest that the polymorphism rs10757278 is related to a high risk of CAD in a Saudi population.

Background. Different common gene variants were related to coronary artery disease (CAD) in many studies. Yet, the relation of these loci to the severity of CAD is not completely elucidated. Methods. We enrolled 520 subjects (315 CAD cases and 205 controls). CAD presence and extension were assessed by coronary angiography (CAG). Genotyping of five SNPs (namely, rs2230806 (1051G > A) in ABCA1 on chromosome 9, rs2075291 (553G > T) in ApoA5 on chromosome 11, rs320 in LPL on chromosome 8 intron (T → G at position 481), rs10757278 (c.22114477A > G), and rs2383206 (c.22115026 A > G) on chromosome 9p21 locus) was performed by allele-specific PCR. The degree and site of arterial lesions were used to classify patients, tested for association with CAD severity, and related to allele dosage. Results. The polymorphisms rs2383206 and rs10757278 showed significant associations with 2- and 3-vessel coronary disease (p =0.003 and 0.006, respectively). The homozygous GG genotypes of rs10757278 was associated with higher frequency of left anterior descending (LAD), right coronary artery (RCA) and left circumflex (LCX) diseases (p =0.002, 0.016 and 0.002, respectively). The GG genotypes of rs2383206 were found in higher percentage in patients with left main (LM) trunk and left circumflex (LCX) diseases ( and 0.002, respectively). Conclusion. SNPs rs10757278 and rs2383206 allele dosage could predict CAD severity in the Saudi Arab population.