Concise History of Genome-Wide association studies

Genome-wide association studies [GWASs] have had a tremendous impact on the pace of genomic research of common diseases. The number of identified genetic variants associated has grown exponentially. For some diseases, such as coronary heart disease [CHD], the number of known susceptibility genes has grown from a handful to more than 45. A substantial number of genes point to unexpected mechanism involved, and functional data from the "Encyclopedia of Deoxyribonucleic Acid Elements" [ENCODE] project is helpful in uncovering the functional relevance to diseases. The rapidly evolving techniques have made the shift from family-based linkage studies to GWASs possible. Advanced single nucleotide polymorphism [SNP] arrays containing hundreds of thousands of variants efficiently assess the extent of genome-wide disease-associated genetic variation. Along with SNP arrays came breakthroughs in statistical analyses and study designs leading to the exponential growth of the GWAS catalog. Pathway analyses of GWASs results with manually curated software programs have been insightful. Next-generation sequencing [NGS] of the exome or even the whole genome will undoubtedly shift the balance in focus from common variants to more rare variations impacting common diseases. Moreover, the combined power of GWASs, sequencing, pathway analysis, and functional data to study common disease shall only be limited by our ability to comprehend

Beta[2]-adrenergic receptor gene polymorphisms in normal and in patients with myocardial infarction in the eastern province of Saudi Arabia

Introduction: Single nucleotide polymorphisms [SNPs] of the beta[2]-adrenergic receptor [beta[2]-AR] gene have been implicated in the pathogenesis of cardiovascular diseases. This study evaluated two beta[2]-AR SNPs in association with myocardial infarction [MI], namely arginine-glycine [G16R] substitution at codon 16 and glutamine-glutamic [Q27E] substitution at condon 27

Objectives: Therefore, our main objective was to determine the association of these two SNPs among patients with MI with and without type 2 diabetes [T2D]

Materials and Methods: Blood samples were collected from 201 MI patients with and without diabetes and from 115 controls and the beta[2]-AR gene polymorphisms at codon 16 and codon 27 were assessed by restriction fragment length polymorphism. The CHI[2] test was used to compare differences between groups

Results: The SNPs did not deviate significantly from Hardy-Weinberg equilibrium in the control population. The allele and genotype frequencies of the beta[2]-AR gene polymorphism at codon 16 [G16R] was significantly different between MI cases and controls [CHI[2] = 10.495, P < 0.05 and CHI[2] = 8.849, P < 0.05, respectively]. No significant difference in genotype and allele frequencies at codon 27 was shown between these two groups [CHI[2] = 2.661, P >/= 0.05 and CHI[2] = 1.587, P >/= 0.05, respectively]. When the MI patients with and without T2D were pooled together, genotype distribution was different between cases and controls at codon 16 [CHI[2] = 4.631, P = 0.099] and codon 27 [CHI[2] = 7.247, P = 0.027]. However, no significant differences were found in allele frequencies for codon 16 and codon 27 between the two groups [CHI[2] = 0.628, P = 0.428; CHI[2] = 0.33, P = 0.565, respectively]

Conclusion: Our findings indicate a moderate association of the beta[2]-AR G16R gene polymorphism with MI suggesting that this gene plays a universal role in the development of MI across ethnicities. However, there was no association of beta[2]-AR G16R gene polymorphism with diabetic patients with MI

Developing questionnaires for students' evaluation of individual faculty's teaching skills: a Saudi Arabian pilot study

The National Commission for Academic Accreditation and Assessment is responsible for the academic accreditation of universities in the Kingdom of Saudi Arabia [KSA]. Requirements for this include evaluation of teaching effectiveness, evidence-based conclusions, and external benchmarks. To develop a questionnaire for students' evaluation of the teaching skills of individual instructors and provide a tool for benchmarking. College of Nursing, University of Dammam [UoD], May-June 2009. The original questionnaire was Monash Questionnaire Series on Teaching [MonQueST] - Clinical Nursing. The UoD modification retained four areas and seven responses, but reduced items from 26 to 20. Outcome measures were factor analysis and Cronbach's alpha coefficient. Seven Nursing courses were studied, viz.: Fundamentals, Medical, Surgical, Psychiatric and Mental Health, Obstetrics and Gynecology, Pediatrics, and Family and Community Health. Total number of students was 74; missing data ranged from 5 to 27%. The explained variance ranged from 66.9% to 78.7%. The observed Cornbach's alpha coefficients ranged from 0.78 to 0.93, indicating an exceptionally high reliability. The students in the study were found to be fair and frank in their evaluation

Vitamin D levels in healthy men in eastern Saudi Arabia

Studies in 1980s and 1990s indicated that vitamin D levels in the ethnic Saudi Arabian population were low but no studies since that time evaluated vitamin D levels among healthy young or middle-aged Saudi men. Thus, we assessed the serum level of 25-hydroxyvitamin D [25OHD] among healthy Saudi Arabian men living in the Eastern Province. One hundred males aged 25-35 years [the age range of peak bone mass] and 100 males aged 50 years or older were randomly selected and evaluated clinically, including measurement of serum calcium, parathyroid hormone [PTH] and serum 25 OHD levels. Vitamin D deficiency was defined as a serum level of 25 OHD of 20 ng/mL and <30 ng/mL and normal >/= 30 ng/mL. The mean [SD] age of subjects in the younger age group was 28.2 [4.5] years. Twenty-eight [28%] had low 25OHD levels; 10 [10%] subjects were vitamin D deficient with a mean level of 16.6 [3.4] ng/mL and 18[18%] were vitamin D insufficient with a mean level of 25.4 [2.7] ng/mL. In the older age group, the mean age was 59.4 [15.6] years and 37 [37%] had low 25 OHD; 12[12%] subjects were deficient with a mean 25OHD level of 16.7 [3.4] ng/mL and 25[25%] were insufficient with a mean 25OHD level of 25.3 [3.3] ng/mL. The prevalence of vitamin D deficiency among healthy Saudi men is between 28% to 37%. Vitamin D deficiency among young and middle age Saudi Arabian males could lead to serious health consequences if the issue is not urgently addressed

Oral and intraperitoneal LD[50] of thymoquinone, an active principle of Nigella sativa, in mice and rats

Thymoquinone is the major active principle of Nigella saliva [N. sativa] and constitutes about 30% of its volatile oil or ether extract. N. sativa oil and seed are commonly used as a natural remedy for many ailments. Using modern scientific techniques, a number of pharmacological actions of N. sativa have been investigated including immunostimulant, anti-inflammatory, anticancer, antioxidant, antihistaminic, antiasthmatic, hypoglycemic, antimicrobial and antiparasitic. There are only few reports regarding the toxicity of thymoquinone. The present study was carried out to determine LD[50] of thymoquinone both in mice and rats, orally as well as intraperitoneal, by the method of Miller and Tainter. Autopsy and histopathology of liver, kidney, heart and lungs were also determined. The LD[50] in mice after intraperitoneal injection was determined to be 104.7 mg/kg [89.7-119.7, 95% confidence interval] and after oral ingestion was 870.9 mg/kg [647.1-1094.8, 95% confidence interval]. Whereas, LD[50] in rats after intraperitoneal injection was determined to be 57.5 mg/kg [45.6-69.4, 95% confidence intervals] and after oral ingestion was 794.3 mg/kg [469.8-1118.8, 95% confidence intervals]. The LD[50] values presented here after intraperitoneal injection and oral gavages are 10-15 times and 100-150 times greater than doses of thymoquinone reported for its anti-inflammatory, anti-oxidant and anti-cancer effects. Thymoquinone is a relatively safe compound, particularly when given orally to experimental animals

Salmonella carriers among expatriate workers in Al-Qatif area

Background: Salmonella infection and diarrhoeal diseases are major causes of morbidity and mortality in the developing world. All expatriates applying for work permits in the Kingdom of Saudi Arabia [KSA] have to undergo a governmental compulsory health check program

Aim of the study: To estimate the number of salmonella carriers who had previously been diagnosed as free of infection

Subjects and Methods: Over a period of two years, a total of 17, 918 workers in Al-Qatif area, in the Eastern Province were tested for salmonella on stool samples

Results: Three hundred and twenty eight were found to be asymptomatic carriers of salmonella. The highest frequency was found among workers from Egypt [13.1 %] while Filipinos and Indians were the lowest carriers [1.2%]. Salmonella serogroups E, C 1 and C2 were most common [29%, 29% and 23.5% respectively] followed by serogroups B, D and C [13%, 3.7% and 1% respectively]. No Shigella species were isolated. All carriers were given antibiotics and were instructed in prophylactic hygiene measures. After completing the course of antibiotics, they were retested and found to be clear of infection

Conclusion: The health check system in this area will contribute towards the prevention of outbreaks of infection by salmonella