ABSTRACT
Acute coronary artery syndrome [ACS] is the major cause of mortality in Pakistan with genetic and environmental influence on the incidence of the disease. This case-control study was designed to find out if a correlation is existing between ACS and single nucleotide polymorphisms [SNPs] in DNA repair genes XPD [at codon 751, rs 13181 [Lys to Gln]] and XRCC1 [at codon 399, rs25487 [Arg to Gln]; 280, rs25489 [Arg to His] and 194, rs 1799782 [Arg to Trp]] either individually or in various combination with each other [haplotype analysis]. The objective of this study was to find out the association of various studied risk factors and serum lipid profile of the subjects with the disease, if any. PCR-RFLP method was used to determine genotype at specific codon in 221 subjects [115 ACS patients and 106 healthy controls] from Southern Punjab population. Genotypic and allelic frequency distribution among the cases and controls revealed that all the studied SNPs were not individually associated with the ACS. Haplotype analysis revealed that subjects having wild type combination of all three XRCC1 SNPs had greater susceptibility to ACS than any other studied genotypic combinations. Analysis of risk factors revealed that hypertension [P<0.001], age [P=0.05], education [P<0.001], gender [P<0.001], family history [P=0.005], smoking habit [P=0.002] and diabetes [P<0.001] were significantly associated with the incidence of ACS. Serum lipid profile analysis indicated that cholesterol level was significantly higher [P=0.048] in patients [161.5mg/dL] than controls [142.1mg/dL] while triglyceride remained unaffected [P=0.87] when compared between the two treatments
ABSTRACT
Hepatitis B virus [HBV] affects more than 350 million people worldwide and is a leading cause of morbidity and mortality in developing countries like Pakistan. Lamivudine has potential to inhibit hepatitis B virus [HBV] replication but long term lamivudine treatment results in mutations in YMDD region of HBV, making this therapy ineffective. In this study, we have optimized a polymerase chain reaction-restriction fragment length polymorphism [PCR-RFLP] based protocol to detect two mutations in HBV DNA polymerase gene [at codon 528 and 552] in chronic hepatitis patients, without any prior lamivudine treatment. HBV genome was extracted and tested by PCR-RFLP for detection of mutations in polymerase gene. Variations in HBV genome were not detected in enrolled patients confirming that lamivudine can be used to treat chronic Hepatitis B in these patients. Several studies have reported the natural occurrence of mutation in YMDD motif of polymerase gene in chronic hepatitis B patients, not treated with lamivudine, but these mutants were not detected in Pakistani lamivudine-untreated chronic hepatitis B patients