Are IVS4 SNPs of OLR1 gene associated with coronary artery disease: Is there a linkage between IVS4 SNPs?

Background. The OLR1 gene has been identified as a candidate gene for coronary artery disease (CAD). Six single-nucleotide polymorphisms (SNPs) of the OLR1 gene located within intron 4 (IVS4-27G>C, IVS4-73C>T, IVS4-14A>G), intron 5 (IVS5-70A>G, IVS5-27G>T) and 3'UTR (188C>T) comprise a linkage disequilibrium (LD) block, which is strongly associated with the elevated risk of CAD

DIFFERENT EFFECTS OF CAV1 rs3807990 VARIATION ON LIPID PROFILE IN PATIENTS WITH CORONARY HEART DISEASE BASED ON PRESENCE OF DIABETES

Objective: A decreased antiatherogenic function of endothelium causes endothelial dysfunction characterized by decreased nitric oxide (NO) levels. NO amounts can be regulated by the inhibition of eNOS enzyme activity via caveolin-1 (Cav-1). We aimed to determine the effect of CAV1 rs3807990 on metabolic and lipid biomarker levels in diabetic and non-diabetic coronary heart disease (CHD) and to determine the possible contribution to diabetic dyslipidemia

Investigation of metabolic effects of CETP gene rs289714 variation in coronary artery patients: A case-control study

Objective: The aim of this study was to investigate the effects of the CETP gene rs289714 polymorphism on the serum lipid profile and other metabolic parameters in Turkish patients with coronary artery disease (CAD)

Genetic polymorphisms of the SHBG gene can be the effect on SHBG and HDL-cholesterol levels in Coronary Heart Disease: a case-control study

Sex hormone binding globulin (SHBG) level is positively associated with the high-density lipoprotein cholesterol (HDL-C) levels. The aim of this study was to investigate the effects of the SHBG gene variations (D356N, rs1799941, and P156L) on SHBG and HDL-C levels and Coronary Heart Disease (CHD) risk. The SHBG D356N (rs6259,G>A), P156L (rs6258,C>T), and rs1799941(G>A) polymorphisms were determined in 131 male CHD patients and 55 male controls by PCR-RFLP and real-time PCR techniques. SHGB levels were measured by Electro-chemiluminescence immunoassay (ECLIA). In the patients who had SHBG levels lower than threshold 35nmol/l value, the risk of being HDL-C levels lower than threshold 0.90mmol/l value was observed statistically significant (p=0.017; OR 2.522, 95% CI 1.170-5.438). The rs1799941 GG was associated with increased CHD risk when compared with the A allele carriers (GA+AA) (p=0.019, OR 2.222, 95% CI 1.130-4.371). In addition, the rs1799941 GG genotype and D356NN allele were associated with lower SHBG in the CHD group (p<0.01). The logistic regression analysis also revealed the rs1799941 GG genotype was significantly associated with low SHBG in CHD patients. It was observed that Haplotype-1(rs1799941 G allele-P156L P allele-D356N D allele) was associated with increased CHD risk, while Haplotype-2 (rs1799941 rare A allele-P156L C allele- D356N G allele) was correlated with the decreased CHD risk (p=0.0167). Our findings suggest that there is a positive correlation between SHBG and HDL-C levels in CHD patients, and this association might be affected by SHBG gene variations

Effects of common variations of NOS3 and CAV1 genes on hypercholesterolemic profile in coronary heart disease

Caveolin-1 (CAV-1) plays a crucial role in endothelial-nitric oxide synthase (eNOS) enzymatic activity. Therefore, CAV-1 and eNOS interactions have a significant impact on endothelial dysfunction, cholesterol levels, and atherosclerosis. We investigated the critical variations in NOS3 and CAV1 genes in this case-control study to determine the relations between the coronary heart disease (CHD) risk factors. The NOS3-rs1799983, CAV-1 rs3840634, and rs3807990 variations were analyzed in 76 CHD patients and 91 controls using the polymerase chain reaction. Mean serum Total-cholesterol levels were significantly higher in CHD patients with the CAV-1 rs3807990-T allele than in patients with CC genotype (p=0.017). There was a statistically significant correlation between the rs3807990-T allele and hypercholesterolemia in the CHD group (p=0.008). The multivariate analysis confirmed that the CAV-1 rs3807990-T allele (p=0.011) is a risk factor for hypercholesterolemia. Moreover, the serum HDL-Cholesterol level was detected to be higher in patients carrying both CAV1-rs3807990-T and NOS3-rs1799983-T alleles than those with the CAV-1 rs3807990-CC/NOS3-rs1799983-GG genotype subgroup (p=0.013). These results suggested that the genetic variations of CAV-1 rs3807990 and NOS3-rs1799983 may contribute to the increased hypercholesterolemia risk and thus on the development of CHD

The Role of PPAR-gamma C161T Polymorphism in Colorectal Cancer Susceptibility.

Background/Aim: This study aimed to determine the role of the peroxisome proliferator-activated receptor-gamma (PPARg) C161T genotype and allele frequencies in predisposition to colorectal cancer (CRC). Patients and Methods: PPARg C161T (His447His; rs3856806) gene polymorphisms were determined by polymerase chain reaction-restriction fragment length polymorphism analysis in patients with CRC (n=101) and controls (n=238). Results: The T161 allele (CT+TT genotypes) of PPARg C161T polymorphism was associated with CRC development (p<0.001; OR=3.239, 95%CI=1.997-5.252). Subgroup analysis showed that the T161 allele was associated with a 3.056-fold increased risk for colon cancer (CC) (p<0.001; 95%CI=1.709-5.464) and 3.529-fold increased risk for rectal cancer (RC) (p<0.001; 95%C=1.784-6.981). Frequencies of the T161 allele were also higher in total CRC and CC patients with poorly differentiated tumors (p<0.001, c(2)=30,601, OR=3.109; 95%CI=1.970-4.906 and p<0.001, Fisher exact test, respectively). Conclusion: PPARg T161 allele carriers have increased risk for developing CRC

BMP1 5'UTR+104 T/C gene variation: can be a predictive marker for serum HDL and apoprotein A1 levels in male patients with coronary heart disease

Apolipoprotein A1 (Apo A1), the major protein of HDL, is secreted as a proprotein and then is cleaved by C-terminal procollagen endoproteinase/bone morphogenetic protein-1 (BMP1). BMP1 stimulates the conversion of newly secreted proapo A1 to its phospholipid-binding form. Therefore, genetic variations of BMP1 gene may affect serum ApoA1 and HDL levels. We aimed to investigate the effects of the functional 5'UTR + 104 (T/C) variant of BMP1 on serum ApoA1 and HDL levels and risk of coronary heart disease (CHD) in this study. The BMP1 5'UTR + 104 (T/C) (rs143383) variation was determined in 131 male patients with CHD and 51 male controls by real-time polymerase chain reaction technique. ApoA1 levels were measured by immunoturbidimetry. The serum Apo-A1 levels were found higher in controls with the BMP1-CC genotype than those with the T-allele (p < 0.001). Our findings show the association of this variation with serum ApoA1 and HDL-C levels which increase in the order of CT < TT < CC in the controls. No effect was found on ApoA1 and HDL-C levels in CHD patients, as it was observed in the controls. However, the BMP1-TT genotype was associated with higher triglyceride (TG) levels as compared to C-allele (p = 0.009). These discrepancies could be due to statin therapy which has dominant effects on lowering cholesterol levels comparing to TG levels. Our results indicated that the BMP1 5'UTR + 104 (T/C) variation may affect the serum ApoA1 and lipoprotein levels depending on statin therapy so that contributes to the development of CHD

Role of SNPs of CPTIA and CROT genes in the carnitine-shuttle in coronary artery disease: a case control study

Objective: Fatty acid beta-oxidation defects can lead to difficulties at covering energy requirement of heart. The carnitine-shuttle is responsible for the transfering of long-chain fatty acids from the internal mitochondrial membrane. The role of genetic variants of the enzymes in the carnitine shuttle in coronary artery disease (CAD) has not been studied. Therefore, we performed a case-control study investigating the possible relation between the CPTIA-rs3019613 and CROT-rs2214930 gene variations located carnitine shuttle and CAD risk

Peroxisome Proliferator-Activated Receptor Gamma Pro12Ala/C161T Genotypes and Risky Haplotype Altering Risk of Breast Cancer: A Turkish Case–Control Study

© 2021, The Author(s), under exclusive licence to Springer Science+Business Media, LLC, part of Springer Nature.Breast cancer (BC) has a high incidence rate among women worldwide, and the mechanisms and etiology of this disease are not yet fully understood. The peroxisome proliferator-activated receptor gamma (PPARgamma), a nuclear hormone receptor that plays important roles in energy metabolism and cellular differentiation, is also suggested to be effective in cancer development. However, the results of studies investigating the cancer association with PPARgamma are inconsistent, creating a need for further investigation of the effects of this transcription factor on BC risk. We have examined the Pro12Ala-(rs1801282) and C161T-(rs3856806) polymorphisms of the PPARgamma gene in Turkish patients with BC in this case–control study. A total of 95 women diagnosed with BC as cases and 119 controls were genotyped for PPARgamma polymorphisms by polymerase chain reaction and restriction fragment length polymorphism techniques. The ProPro genotype and T161 allele were associated with an increased risk of BC comparing with the Ala12 allele and CC161 genotype, respectively (p 60 years) (p = 0.007) are risk factors for breast cancer. We also found that the PPARgamma Pro12Ala and C161T polymorphisms were in linkage disequilibrium (D’:0.511, r2:0.099). It was determined that carrying ProPro-T161 risky PPARgamma haplotype was associated with a higher risk of BC compared to protective Ala12-CC161 haplotype (p < 0.01, OR:7.797, 95% CI:3.521–17.263). We concluded that PPARgamma Pro12Ala and C161T polymorphisms are associated with increased BC risk, and ProPro-T161 risky haplotype, which is in linkage disequilibrium, increases this effect