ABSTRACT
BACKGROUND: Coronary artery disease (CAD) remains the single most important cause of mortality worldwide. Many candidate and GWAS genetic variants have been identified in the recent years. In the current study, we selected six SNPs from various genes that have originally been identified in GWAS studies and examined the association of SNPs individually and as a genetic risk score (GRS) with CAD and blood lipid levels in the Pakistani subjects. METHODS: Six hundred twenty-four (404 cases and 219 controls) subjects were genotyped for variants rs10757274 in CDKN2A gene, rs17465637 in MIA3 gene, rs7025486 in DAB2IP gene, rs17228212 in SMAD3 gene, rs981887 in MRAS gene and rs1746048 in CXCL12 gene, by TaqMan and KASPar allele discrimination techniques. Serum lipid parameters were measured using commercially available kits. Statistical analyses were done using SPSS version 22. RESULTS: Individually, the single SNPs were not associated with CAD (p < 0.05). However, the combined GRS of 6 SNPs was significantly higher in cases than controls (4.89 ± 0.11 vs 4.58 ± 0.08, p = 0.024). Among blood lipids, GRS showed significant positive association with serum triglycerides levels (p = 0.022). CONCLUSION: The GRS was quantitatively associated with CAD risk and showed association with serum triglycerides levels, suggesting that the mechanism of these variants is likely to be in part at least through creating an atherogenic lipid profile in subjects carrying high numbers of risk alleles.
Subject(s)
Aryl Hydrocarbon Receptor Nuclear Translocator/genetics , Chemokine CXCL12/genetics , Coronary Artery Disease/genetics , Cyclin-Dependent Kinase Inhibitor p18/genetics , Polymorphism, Single Nucleotide , Smad3 Protein/genetics , ras GTPase-Activating Proteins/genetics , ras Proteins/genetics , Adult , Alleles , Aryl Hydrocarbon Receptor Nuclear Translocator/blood , Case-Control Studies , Chemokine CXCL12/blood , Cholesterol, HDL/blood , Cholesterol, LDL/blood , Coronary Artery Disease/blood , Coronary Artery Disease/pathology , Cyclin-Dependent Kinase Inhibitor p16 , Cyclin-Dependent Kinase Inhibitor p18/blood , Female , Gene Expression , Gene Frequency , Genetic Predisposition to Disease , Genome-Wide Association Study , Humans , Male , Middle Aged , Pakistan , Risk , Smad3 Protein/blood , Triglycerides/blood , ras GTPase-Activating Proteins/blood , ras Proteins/bloodABSTRACT
Oncomelania hupensis which plays an important role in the transmission of schistosomiasis japonica is the only intermediate host of Schistosoma japonicum and carrying out studies on its subspecies differentiation and genetic variation will have an important significance for schistosomiasis control. In this paper the research progress of taxonomy and discrimination techniques of O. hupensis is reviewed at four levels namely the morphological level the cellular level the protein level and the DNA molecule level and DNA sequencing technology is considered as the ideal taxonomy and discrimination technique of O. hupensis and the future research emphasis.
