Asmahan Ali El Ezzi

The aim of the study was to investigate any associations between benign prostate hyperplasia (BPH) and single nucleotide polymorphisms (SNPs) in the VDR gene (FokI, BsmI, ApaI and TaqαI loci) and the CYP17 gene (MspA1I locus), as well as TA repeat polymorphism in SRD5A2 gene among Lebanese men. DNA extracted from blood of 68 subjects with confirmed BPH and 79 age-matched controls was subjected to PCR/PCR-restriction fragment length polymorphism analysis. The odds ra=tio (OR) of having a genotype and the relative risk (RR) of developing BPH for having the genotype were calculated and the alleles were designated risk-bearing or protective. Our data indicated that the A and B alleles of the VDR ApaI and BsmI SNPs were highly associated with increased risk of BPH (p=0.0168 and 0.0002, respectively). Moreover, 63% of the controls compared to 43% of the subjects with BPH were homozygous for none of the risk-bearing alleles (p=0.0123) whereas 60% of the controls and 28% of the subjects with BPH were homozygous for two or more protective alleles (p<0.0001). For the first time, our study demonstrated that ApaI and BsmI of the VDR gene are associated with risk of BPH among Lebanese men. Our study also indicated that overall polymorphism profile of all the genes involved in prostate physiology could be a better predictor of BPH risk.

Congenital hypothyroidism is screened using blood spotted on filter paper that may be transported from remote areas to central testing facilities. However, storage conditions and transportation may affect sample quality. We examined long-term stability of thyroid-stimulating hormone (TSH) and thyroxin (TT4) in blood spotted on filter paper, which was stored at room temperature (RT), 4°C and -20°C under continuous or intermittent power supply (six hours on and six hours off around the clock.) Hormone levels in the discs were measured periodically for up to ten years. Extraction of DNA from blood spots and polymerase chain reaction were performed. Our results showed that TT4 was stable for up to 6.1, 5.34 and 5.16 years when stored at -20°C, 4°C and RT, respectively. TSH was stable for up to 2.7 years at RT, and for up to 6.5 and 4.1 years when stored at -20°C and 4°C, respectively, under continuous power supply. However, under intermittent power supply, TSH was stable for up to 3.8 and 2.5 years when stored at 4°C and -20°C, respectively. Mitochondrial cytochrome oxidase and sex-determining region of Y chromosome genes were successfully amplified from DNA extracted from the blood spots. Our data indicate that TT4 and TSH are most stable in blood spots stored at -20°C under continuous power supply. However, they can be stored at RT or at 4°C and -20°C under interrupted power supply for at least 2.5 years. Moreover, the DNA extracted from the blood spots was intact and suitable for genetic studies.

The goal of this study was to determine the stability of Total Prostrate Specific antigen (PSA-T) and Free Prostrate Specific Antigen (PSA-F) in archival serum stored at 4°C and −20°C and subjected to temperature shift due to interruption in power supply. Our study showed that PSA-T was stable up to 285 days and PSA-F was stable for 158 days under these conditions. Since power supply interruption is an unavoidable problem in developing nations, our study has implication on the validity of measurement of PSA-T and PSA-F in serum that was not properly stored due to emergency situations and for certain types of retrospective studies.