RESUMO
Scavenger receptor type B (SR-BI) is a receptor that binds both native and altered lipoproteins. It was revealed to facilitate utilization of high-density lipoprotein HDL and significantly affect the reverse transport of cholesterol. Therefore, the objectives were to identify the possible role of the genetic variant rs4238001 in patients with myocardial infarction (MI) on serum lipid level, and how this variant could impact the response of rosuvastatin drug. The genotyping of the rs4238001 genetic polymorphism of the SR-B1 gene was performed in 300 participants, including 150 MI patients treated with 20mg/day/4 weeks of rosuvastatin and 150 healthy control using Taq man probes (FAM and VIC) by Real-time PCR technique. The concentrations of the lipid profile were evaluated. The significance of the anthropometric data was revealed in the ejection fraction and smoking status (p < 0.05) between groups. The lipid profile shows either significant differences between control and MI patients (pre-treatment) or between pre-and post-treatment of MI patients (p < 0.05), but not HDL-c (p > 0.05). The minor allele frequency MAF% of the T allele and TT genotype were more frequent in MI patients than in controls (P = 0.173; OR = 3.62; 95% CI = 0.74-17.64). CC genotype was found to be associated with response to rosuvastatin therapy with a change of % (29.08 ± 53.2; p = 0.021). In the Iraqi population, the rs4238001 polymorphism of the SR-B1 gene is associated with variations in serum lipids, and the CC genotype of the SNP is related to higher HDL-C in the lipid-lowering rosuvastatin response.
RESUMO
BACKGROUND: Angina pectoris (AP) occurs when oxygen and other nutrients are insufficient to meet the metabolic needs of the heart muscle. Stable angina is the most common, while the unstable angina is less frequent. Tumor necrosis factor alpha (TNF-alpha) is a pleiotropic cytokine plays a vital function in the immune response regulation. TNF gene cluster contains many polymorphisms; the most commonly investigated polymorphism is the rs1800629 SNP. This SNP, located at - 308 position with regard to the TNF promoter region, replaces guanine (G) with adenine (A), with the allelic types - 308 G/A, and has been linked to a variety of inflammatory condition and autoimmune diseases. The - 308 G/A SNP was investigated in AP and interconnected to the TNF level to figure out the responsibilities of TNF-alpha gene polymorphism in the pathogenesis of AP. METHOD: The current work design as a case-control study that involves 300 participant divided to 200 patients evaluated as (stable angina n = 100 and unstable angina n = 100) compared with 100 apparently healthy control subjects. The serum level of TNF-alpha was assessed via enzyme-linked immunosorbent assay (ELISA)/sandwich method. The genotype and allele frequency distribution of TNF-alpha rs1800629 gene polymorphism were investigated by TaqMan probe of allelic discrimination method. RESULTS: The levels of TNF-alpha were significantly higher in patients with stable and unstable angina pectoris in comparison with controls. The deviation from Hardy-Weinberg equilibrium (HWE) of TNF-alpha genotypes was obvious in control and unstable angina pectoris groups. Moreover, the significant differences between patients with AP and controls under the five genetic models consider the association between TNF-alpha (rs1800629) - 308 G/A and AP with OR > 1. However, data analysis of allelic and genotypic of (rs1800629) - 308 G/A revealed higher significantly differences of GG homozygous and GA heterozygous proportions between stable angina patients and control. The A allele was more represented as etiological allele, and G allele was represented as protective allele. The serum levels of TNF-alpha were significantly higher in subjects with genetically mutated AA genotypes than in subjects with wild GG genotypes in the study groups. ROC curve analysis found the best cutoff value of TNF-alpha level was 77.25 pg/ml. CONCLUSION: As the results, our data observed a linked of TNF-alpha (rs1800629) - 308 G/A genetic variant with angina pectoris patients, and the A allele has been linked to the production or expression of TNF-alpha serum level and represented an etiological factor of angina pectoris.
RESUMO
Background and aim: Urinary tract infection (UTI) is the most common infection in type 2 diabetes patients. TNF-ß is a cytokine with multiple functions in immunomodulatory and inflammatory mechanisms. The variation at position +252 A/G of TNF-ß impacts both gene expression and plasma concentration of TNF-ß proteins. The findings may shed light on the genetic factors that predispose diabetic patients in Iraq to UTIs. Methods: A total of 200 individuals were divided into 100 patients with type 2 diabetes, categorized according to UTI, and 100 control subjects. Genetic analysis of +252 A/G of the TNF-ß gene was carried out using the TaqMan probe allele discrimination method. The level of TNF-ß was estimated by the ELISA technique. Results: In the recessive model (GG vs. AA/AG) of TNF-ß + 252 A/G in T2D/UTI patients compared to controls, a significant association p = 0.029 (OR: 2.8; CI 95% = 1.14-7.09): E = 15.6% was observed. Furthermore, in T2D patients without UTI, the dominant model AA versus AG/GG was associated with a preventive role P: 31.3% (OR: 0.4; CI 95% = 0.22-0.88) and a p value = (0.02). Overall, AG proportions showed a high level of TNF-ß within the control group p = 0.03, while all proportions of the +252 A/G showed significant differences in TNF-ß level between groups p ≤ 0.05. Pearson's correlation analysis observed a link between TNF- levels, fasting plasma glucose (FPG), and HbA1c. Conclusion: In T2D patients, the G allele may be linked to a higher probability of UTI, as well as an increased level of TNF-ß in a genotype-dependent manner.
RESUMO
BACKGROUND: The X-chromosome short tandem repeat (STR) polymorphisms are a particular tool in the fields of human population genetics and personal identification. It was necessary in investigating complex kinship or deficiency cases in conditions where information on mitochondrial DNA (mtDNA) or Y chromosome polymorphisms have been used to explore their direct paternal line. This study aimed to investigate the allele frequency of (12X-STR) of 200 unrelated males from different region of Baghdad City to serve as a reference data base for individual identification in Iraqi population. RESULTS: Twelve X-STR loci (DXS7424, HPRTB, DXS8377, GATA31E08, DXS7423, DXS8378, DXS9895, DXS10074, DXS6809, DXS7133, DXS101, DXS6807) were successfully amplified by multiplex PCR and divided into four groups. According to measures of allele frequency, the higher alleles frequency were 16, 11, 46, 11, 14, 10, 15, 15.2, 35, 11, 25, and 11 while the lowest alleles frequency were 11, 9, 52,53, 7, 17, 14, 13, 12.2,17, 36, 15, 16, 22, 29, and 17 that observed at the 12 loci respectively. Forensic efficiency parameter for DXS8377 locus in the first group showed highest polymorphic allele in the Iraqi Arab population with the frequencies ranging from 0.005 to 0.16%. The power of discrimination (PD) value ranged from 0.663 for DXS7423 locus and 0.9066 for DXS8377 locus. In addition, the polymorphism information content (PIC) value ranged from 0.602974 for DXS7423 locus to 0.899206 for DXS8377 locus. CONCLUSIONS: Overall the X-STR markers become used as an important source of information beside the autosomal and Y-STR markers, especially for kinship testing and haplotype analysis.
RESUMO
BACKGROUND: Drug response is below genetic influence, proven by the genetic variants. Pharmacogenetics trials are performed in many diseases, including coronary artery disease. This study was designed to determine the genetic polymorphism (rs676210) Pro2739leu G > A in the lipid metabolism-related gene (ApoB gene) and its pharmacogenetic role in the response to atorvastatin drug in a sample of Iraqi population with coronary artery disease (CAD). RESULTS: Significant differences of genotype distribution in CAD patients and controls were observed in ApoB+ 8216 in Iraqi population from Hardy Weinberg Analysis. It also found that dramatic difference of low-density lipoprotein (LDL-C) level in response to 40 mg/day of atorvastatin therapy, the minor allele (A) observed a greater LDL-C lowering than the wild type allele (G). In ANOVA analysis, the result showed that the rs676210, Pro2739Leu, in ApoB gene increased non significantly, but gradually in plasma level of total cholesterol (TC), triglyceride (TG), very low-density lipoprotein (VLDL), and oxidize low-density lipoprotein (oxLDL) in the order of genotype AA, GA, and GG in response to 40 mg atorvastatin. CONCLUSION: We found the results highlighted the function of the rs676210, Pro2739Leu, in the ApoB gene in CAD etiology, and the findings support this variant's impact in predicting the response of (LDL-C) to 40 mg of atorvastatin therapy. ApoB gene polymorphism (rs676210, Pro2739Leu), specifically the AA genotype, may help to identify individuals who will profit from atorvastatin's lowering effects.
