Amein K Al-Ali | Imam Abdulrahman bin Faisal University (original) (raw)
Papers by Amein K Al-Ali
Blood Cells, Molecules, and Diseases, 2016
American Journal of Hematology, 2016
International Journal of Molecular Sciences, 2016
Recent genome-wide association studies identified single nucleotide polymorphisms (SNPs) on the c... more Recent genome-wide association studies identified single nucleotide polymorphisms (SNPs) on the chromosome 9p21.3 conferring the risk for CAD (coronary artery disease) in individuals of Caucasian ancestry. We performed a genetic association study to investigate the effect of 12 candidate SNPs within 9p21.3 locus on the risk of CAD in the Saudi population of the Eastern Province of Saudi Arabia. A total of 250 Saudi CAD patients who had experienced an myocardial infarction (MI) and 252 Saudi age-matched healthy controls were genotyped using TaqMan assay. Controls with evidenced lack of CAD provided 90% of statistical power at the type I error rate of 0.05. Five percent of the results were rechecked for quality control using Sanger sequencing, the results of which concurred with the TaqMan genotyping results. Association analysis of 12 SNPs indicated a significant difference in the genotype distribution for four SNPs between cases and controls (rs564398 p = 0.0315, χ² = 4.6, odds ratio (OD) = 1.5; rs4977574 p = 0.0336, χ² = 4.5, OD = 1.4; rs2891168 p = 1.85 × 10 - 10, χ² = 40.6, OD = 2.1 and rs1333042 p = 5.14 × 10 - 9, χ² = 34.1, OD = 2.2). The study identified three protective haplotypes (TAAG p = 1.00 × 10 - 4; AGTA p = 0.022 and GGGCC p = 0.0175) and a risk haplotype (TGGA p = 2.86 × 10 - 10) for the development of CAD. This study is in line with others that indicated that the SNPs located in the intronic region of the CDKN2B-AS1 gene are associated with CAD.
Saudi medical journal, 2009
To evaluate the relationship between vitamin D level and body mass index (BMI) among Saudi Arabia... more To evaluate the relationship between vitamin D level and body mass index (BMI) among Saudi Arabian citizens. Four hundred healthy individuals aged > or =25 years (200 males and 200 females) were included in this cross-sectional study. Subjects were recruited in the period between 1st February 2008 and 31st May 2008 from the medical staff and employees of King Fahd Hospital of the University, Al-Khobar, Kingdom of Saudi Arabia, and from patients attending the endocrinology, orthopedic, and infertility clinics at the same hospital. Clinical evaluation was carried out, and BMI was calculated. Serum 25 hydroxy vitamin D (25OHD), in addition to serum parathyroid hormone levels and calcium chemistry were measured for all subjects. The mean age was 46.5 +/- 14.6 years for males, and 42.6 +/- 15.9 years for females (p=0.01). Mean BMI was similar in both genders, and the difference in the level of serum 25OHD just reached statistical significance (p=0.04). Male subjects with vitamin D def...
Saudi medical journal, 2005
Homozygosity for the C677T mutation in the gene of the thermolabile enzyme 5,10 methylenetetrahyd... more Homozygosity for the C677T mutation in the gene of the thermolabile enzyme 5,10 methylenetetrahydrofolate reductase (MTHFR) associates with reduced enzyme activity, leading to mild hyperhomocysteinemia. We now know that an elevated level of homocysteine is an important risk factor for cardiovascular disease (CVD). The objective of this study was to determine the prevalence of the C677T mutation in Saudi patients diagnosed with CVD. Over a period of 2 years (2003-2004) in a case control study, we determined the prevalence of the C677T mutation in 83 CVD patients and in 40 age and gender-matched controls in the Eastern Province of Saudi Arabia. We determined the MTHFR genotype by restriction fragment length polymorphism and allele specific hybridization procedures. The CVD group showed over representation of the C677T allele frequencies (20.5%) compared with unaffected controls (15%) (p=0.3). Furthermore, the genotypic data indicated that the prevalence of homozygosity for the C677T m...
Saudi medical journal, 2008
To assess the serum level of 25 hydroxyvitamin D 25OHD among healthy Saudi Arabian women living i... more To assess the serum level of 25 hydroxyvitamin D 25OHD among healthy Saudi Arabian women living in the eastern province. A cross-sectional randomized study was conducted between February 1st 2008 and May 31st 2008 at the King Fahd University Hospital, Al-Khobar, Kingdom of Saudi Arabia in 200 Saudi women between 25-35 years group 1 and women of > or =50 years group 2. Clinical examination, laboratory tests, a complete blood picture, serum calcium, phosphorous, alkaline phosphatase, parathormone, and the serum levels of 25OHD levels were carried out. Data on lifestyle, dietary, and demographic questionnaires were collected. Vitamin D was defined as deficient with serum level <50 nmol/L, insufficient between 52-72 nmol/L, and normal as 75nmol/L. In group 1, 70% of women had normal 25OHD, and in women of group 2, 45% had normal levels of 25OHD. Alkaline phosphatase and parathormone levels were significantly higher in women with low vitamin D levels. Sun exposure and consumption o...
American journal of human genetics, 1990
A common glucose-6-phosphate dehydrogenase (G6PD) variant characterized by severe enzyme deficien... more A common glucose-6-phosphate dehydrogenase (G6PD) variant characterized by severe enzyme deficiency and B-like electrophoretic mobility is called "G6PD-Mediterranean" because it is found in different populations around the Mediterranean Sea. Sequence analysis of Italian subjects has revealed that the molecular basis of G6PD-Mediterranean is a single C-T transition at nucleotide position 563, causing a serine phenylalanine replacement at amino acid position 188. Most G6PD-Mediterranean subjects also have a silent C-T transition (without amino acid replacement) at nucleotide position 1311. Twenty-one unrelated individuals from Saudi Arabia, Iraq, Iran, Jordan, Lebanon, and Israel with both severe G6PD deficiency and B-like electrophoretic mobility were tested for both mutations by using amplification followed by digestion with appropriate restriction enzymes. All but one had the 563 mutation, and, of these, all but one had the 1311 mutation. Another 24 unrelated Middle Easte...
Inflammopharmacology, 1998
Annals of Saudi Medicine, 2009
Studies in 1980s and 1990s indicated that vitamin D levels in the ethnic Saudi Arabian population... more Studies in 1980s and 1990s indicated that vitamin D levels in the ethnic Saudi Arabian population were low but no studies since that time have 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 25OHD levels. Vitamin D deficiency was defined as a serum level of 25OHD of &amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;lt;/=20 ng/mL and insufficiency as a serum level between &amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;gt;20 ng/mL and &amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;lt;30 ng/mL and normal &amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;gt;or=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 25OHD; 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.
American Journal of Hematology, 2011
Acta Haematologica, 2002
Key antioxidant defense reactions in RBCs are linked to nicotinamide adenine dinucleotide (NAD(+)... more Key antioxidant defense reactions in RBCs are linked to nicotinamide adenine dinucleotide (NAD(+)) and nicotinamide adenine dinucleotide phosphate (NADP(+)). The ratio of reduced (NAD(P)H) to total pyridine nucleotide pool [(NAD(P)(T) i.e. NAD(P)H plus NAD(P)(+)], which is known as redox potential, reflects the redox status of erythrocytes. Through the utilization of a spectrophotometric cycling assay, the NAD(+) and NADP(+) redox potentials were determined in erythrocytes from normal Saudi subjects and those with sickle cell disease (SCD). The sickle erythrocytes NADH/NAD(T) ratio (0.386) was reduced compared to the normal ratio (0.464). This reduction appears to be due to a significant increase in oxidized NAD(+) in sickle RBCs. However, the value of the redox potential of erythrocytes in Saudi subjects with SCD is slightly higher than that reported for comparable African Americans. Although the high fetal hemoglobin is the main factor in the amelioration of the clinical course exhibited by Saudi sickle cell patients, it is assumed that the slight improvement in the redox potential may play a part in this process. This is supported by a relatively uninhibited glycolytic pathway in the erythrocytes of Saudi subjects with SCD with a higher level of NADH than their African American counterparts.
Cancer biomarkers : section A of Disease markers, Jan 2, 2016
HNSCC is the sixth most common human cancer globally. In Saudi Arabia, HNSCC accounts for seven p... more HNSCC is the sixth most common human cancer globally. In Saudi Arabia, HNSCC accounts for seven percent of all newly diagnosed cancer cases. The PIK3CA is one of the most commonly mutated oncogene in human malignancies, including HNSCC. The objective of this study is to identify mutations in exon 9 and exon 20 of the PIK3CA gene among Saudi HNSCC patients, determine the frequency of these mutations and correlate with clinical and pathological findings. Histopathologically confirmed paraffin embedded HNSCC tumor tissues from 48 patients were obtained. Capillary sequencing method was used to sequence exons 9 and 20 of the PIK3CA gene. Concurrently, the expression analysis of the PIK3CA and PTEN genes were performed using real-time PCR. Sixty percent of the samples studied were of pharyngeal cancer. A total of seven mutations were identified in exons 9 and 20 of the PIK3CA gene in 14 HNSCC tumor tissue specimens. The seven mutations encompassed one hot spot mutation E542K, a common mut...
PLOS ONE, 2016
Coronary Artery Disease (CAD) remains the leading cause of mortality worldwide. Mortality rates a... more Coronary Artery Disease (CAD) remains the leading cause of mortality worldwide. Mortality rates associated with CAD have shown an exceptional increase particularly in fast developing economies like the Kingdom of Saudi Arabia (KSA). Over the past twenty years, CAD has become the leading cause of death in KSA and has reached epidemic proportions. This rise is undoubtedly caused by fast urbanization that is associated with a life-style that promotes CAD. However, the question remains whether genetics play a significant role and whether genetic susceptibility is increased in KSA compared to the well-studied Western European populations. Therefore, we performed an Exome-wide association study (EWAS) in 832 patients and 1,076 controls of Saudi Arabian origin to test whether population specific, strong genetic risk factors for CAD exist, or whether the polygenic risk score for known genetic risk factors for CAD, lipids, and Type 2 Diabetes show evidence for an enriched genetic burden. Our results do not show significant associations for a single genetic locus. However, the heritability estimate for CAD for this population was high (h2 = 0.53, S.E. = 0.1, p = 4e-12) and we observed a significant association of the polygenic risk score for CAD that demonstrates that the population of KSA, at least in part, shares the genetic risk associated to CAD in Western populations.
Saudi medical journal, 2014
To compare the performance of 3 commonly used 25-hydroxyvitamin D (25-OHD) assays among a sample ... more To compare the performance of 3 commonly used 25-hydroxyvitamin D (25-OHD) assays among a sample of the Saudi population. This cross-sectional study was carried out between January 2011 and December 2012 at King Fahd Hospital of the University, Al-Khobar, Saudi Arabia. After informed consent, blood samples for measurement of 25-OHD level was extracted from 200 adults. The vitamin D level of each individual were determined using chemiluminescence immunoassay (CLIA), radio-immuno assay (RIA), and liquid chromatography-tandem mass spectrometry (LC-MS/MS) assay. Assays were also compared through commonly used cut-points for classification of vitamin D deficiency. Bias between assays was evaluated using Bland-Altman plots. The average age of patients was 45.7+/-16.1 years. A significant difference between the assays was found. The mean 25-OHD levels were highest for the LC-MS/MS (21.65 ng/mL, 95% CI 19.74-23.56), intermediate for RIA (16.607 ng/mL, 95% CI 14.87-18.32), and lowest for C...
Saudi Journal of Medicine and Medical Sciences, 2013
Journal of Ayub Medical College, Abbottabad : JAMC
Thymoquinone is the major active principle of Nigella sativa (N. sativa) and constitutes about 30... more Thymoquinone is the major active principle of Nigella sativa (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 LD50 of thymoquinone both in mice and rats, orally as well as intraperitoneall, by the method of Miller and Tainter. Autopsy and histopathology of liver, kidney, heart and lungs were also determined. The LD50 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...
Blood Cells, Molecules, and Diseases, 2016
American Journal of Hematology, 2016
International Journal of Molecular Sciences, 2016
Recent genome-wide association studies identified single nucleotide polymorphisms (SNPs) on the c... more Recent genome-wide association studies identified single nucleotide polymorphisms (SNPs) on the chromosome 9p21.3 conferring the risk for CAD (coronary artery disease) in individuals of Caucasian ancestry. We performed a genetic association study to investigate the effect of 12 candidate SNPs within 9p21.3 locus on the risk of CAD in the Saudi population of the Eastern Province of Saudi Arabia. A total of 250 Saudi CAD patients who had experienced an myocardial infarction (MI) and 252 Saudi age-matched healthy controls were genotyped using TaqMan assay. Controls with evidenced lack of CAD provided 90% of statistical power at the type I error rate of 0.05. Five percent of the results were rechecked for quality control using Sanger sequencing, the results of which concurred with the TaqMan genotyping results. Association analysis of 12 SNPs indicated a significant difference in the genotype distribution for four SNPs between cases and controls (rs564398 p = 0.0315, χ² = 4.6, odds ratio (OD) = 1.5; rs4977574 p = 0.0336, χ² = 4.5, OD = 1.4; rs2891168 p = 1.85 × 10 - 10, χ² = 40.6, OD = 2.1 and rs1333042 p = 5.14 × 10 - 9, χ² = 34.1, OD = 2.2). The study identified three protective haplotypes (TAAG p = 1.00 × 10 - 4; AGTA p = 0.022 and GGGCC p = 0.0175) and a risk haplotype (TGGA p = 2.86 × 10 - 10) for the development of CAD. This study is in line with others that indicated that the SNPs located in the intronic region of the CDKN2B-AS1 gene are associated with CAD.
Saudi medical journal, 2009
To evaluate the relationship between vitamin D level and body mass index (BMI) among Saudi Arabia... more To evaluate the relationship between vitamin D level and body mass index (BMI) among Saudi Arabian citizens. Four hundred healthy individuals aged > or =25 years (200 males and 200 females) were included in this cross-sectional study. Subjects were recruited in the period between 1st February 2008 and 31st May 2008 from the medical staff and employees of King Fahd Hospital of the University, Al-Khobar, Kingdom of Saudi Arabia, and from patients attending the endocrinology, orthopedic, and infertility clinics at the same hospital. Clinical evaluation was carried out, and BMI was calculated. Serum 25 hydroxy vitamin D (25OHD), in addition to serum parathyroid hormone levels and calcium chemistry were measured for all subjects. The mean age was 46.5 +/- 14.6 years for males, and 42.6 +/- 15.9 years for females (p=0.01). Mean BMI was similar in both genders, and the difference in the level of serum 25OHD just reached statistical significance (p=0.04). Male subjects with vitamin D def...
Saudi medical journal, 2005
Homozygosity for the C677T mutation in the gene of the thermolabile enzyme 5,10 methylenetetrahyd... more Homozygosity for the C677T mutation in the gene of the thermolabile enzyme 5,10 methylenetetrahydrofolate reductase (MTHFR) associates with reduced enzyme activity, leading to mild hyperhomocysteinemia. We now know that an elevated level of homocysteine is an important risk factor for cardiovascular disease (CVD). The objective of this study was to determine the prevalence of the C677T mutation in Saudi patients diagnosed with CVD. Over a period of 2 years (2003-2004) in a case control study, we determined the prevalence of the C677T mutation in 83 CVD patients and in 40 age and gender-matched controls in the Eastern Province of Saudi Arabia. We determined the MTHFR genotype by restriction fragment length polymorphism and allele specific hybridization procedures. The CVD group showed over representation of the C677T allele frequencies (20.5%) compared with unaffected controls (15%) (p=0.3). Furthermore, the genotypic data indicated that the prevalence of homozygosity for the C677T m...
Saudi medical journal, 2008
To assess the serum level of 25 hydroxyvitamin D 25OHD among healthy Saudi Arabian women living i... more To assess the serum level of 25 hydroxyvitamin D 25OHD among healthy Saudi Arabian women living in the eastern province. A cross-sectional randomized study was conducted between February 1st 2008 and May 31st 2008 at the King Fahd University Hospital, Al-Khobar, Kingdom of Saudi Arabia in 200 Saudi women between 25-35 years group 1 and women of > or =50 years group 2. Clinical examination, laboratory tests, a complete blood picture, serum calcium, phosphorous, alkaline phosphatase, parathormone, and the serum levels of 25OHD levels were carried out. Data on lifestyle, dietary, and demographic questionnaires were collected. Vitamin D was defined as deficient with serum level <50 nmol/L, insufficient between 52-72 nmol/L, and normal as 75nmol/L. In group 1, 70% of women had normal 25OHD, and in women of group 2, 45% had normal levels of 25OHD. Alkaline phosphatase and parathormone levels were significantly higher in women with low vitamin D levels. Sun exposure and consumption o...
American journal of human genetics, 1990
A common glucose-6-phosphate dehydrogenase (G6PD) variant characterized by severe enzyme deficien... more A common glucose-6-phosphate dehydrogenase (G6PD) variant characterized by severe enzyme deficiency and B-like electrophoretic mobility is called "G6PD-Mediterranean" because it is found in different populations around the Mediterranean Sea. Sequence analysis of Italian subjects has revealed that the molecular basis of G6PD-Mediterranean is a single C-T transition at nucleotide position 563, causing a serine phenylalanine replacement at amino acid position 188. Most G6PD-Mediterranean subjects also have a silent C-T transition (without amino acid replacement) at nucleotide position 1311. Twenty-one unrelated individuals from Saudi Arabia, Iraq, Iran, Jordan, Lebanon, and Israel with both severe G6PD deficiency and B-like electrophoretic mobility were tested for both mutations by using amplification followed by digestion with appropriate restriction enzymes. All but one had the 563 mutation, and, of these, all but one had the 1311 mutation. Another 24 unrelated Middle Easte...
Inflammopharmacology, 1998
Annals of Saudi Medicine, 2009
Studies in 1980s and 1990s indicated that vitamin D levels in the ethnic Saudi Arabian population... more Studies in 1980s and 1990s indicated that vitamin D levels in the ethnic Saudi Arabian population were low but no studies since that time have 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 25OHD levels. Vitamin D deficiency was defined as a serum level of 25OHD of &amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;lt;/=20 ng/mL and insufficiency as a serum level between &amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;gt;20 ng/mL and &amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;lt;30 ng/mL and normal &amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;gt;or=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 25OHD; 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.
American Journal of Hematology, 2011
Acta Haematologica, 2002
Key antioxidant defense reactions in RBCs are linked to nicotinamide adenine dinucleotide (NAD(+)... more Key antioxidant defense reactions in RBCs are linked to nicotinamide adenine dinucleotide (NAD(+)) and nicotinamide adenine dinucleotide phosphate (NADP(+)). The ratio of reduced (NAD(P)H) to total pyridine nucleotide pool [(NAD(P)(T) i.e. NAD(P)H plus NAD(P)(+)], which is known as redox potential, reflects the redox status of erythrocytes. Through the utilization of a spectrophotometric cycling assay, the NAD(+) and NADP(+) redox potentials were determined in erythrocytes from normal Saudi subjects and those with sickle cell disease (SCD). The sickle erythrocytes NADH/NAD(T) ratio (0.386) was reduced compared to the normal ratio (0.464). This reduction appears to be due to a significant increase in oxidized NAD(+) in sickle RBCs. However, the value of the redox potential of erythrocytes in Saudi subjects with SCD is slightly higher than that reported for comparable African Americans. Although the high fetal hemoglobin is the main factor in the amelioration of the clinical course exhibited by Saudi sickle cell patients, it is assumed that the slight improvement in the redox potential may play a part in this process. This is supported by a relatively uninhibited glycolytic pathway in the erythrocytes of Saudi subjects with SCD with a higher level of NADH than their African American counterparts.
Cancer biomarkers : section A of Disease markers, Jan 2, 2016
HNSCC is the sixth most common human cancer globally. In Saudi Arabia, HNSCC accounts for seven p... more HNSCC is the sixth most common human cancer globally. In Saudi Arabia, HNSCC accounts for seven percent of all newly diagnosed cancer cases. The PIK3CA is one of the most commonly mutated oncogene in human malignancies, including HNSCC. The objective of this study is to identify mutations in exon 9 and exon 20 of the PIK3CA gene among Saudi HNSCC patients, determine the frequency of these mutations and correlate with clinical and pathological findings. Histopathologically confirmed paraffin embedded HNSCC tumor tissues from 48 patients were obtained. Capillary sequencing method was used to sequence exons 9 and 20 of the PIK3CA gene. Concurrently, the expression analysis of the PIK3CA and PTEN genes were performed using real-time PCR. Sixty percent of the samples studied were of pharyngeal cancer. A total of seven mutations were identified in exons 9 and 20 of the PIK3CA gene in 14 HNSCC tumor tissue specimens. The seven mutations encompassed one hot spot mutation E542K, a common mut...
PLOS ONE, 2016
Coronary Artery Disease (CAD) remains the leading cause of mortality worldwide. Mortality rates a... more Coronary Artery Disease (CAD) remains the leading cause of mortality worldwide. Mortality rates associated with CAD have shown an exceptional increase particularly in fast developing economies like the Kingdom of Saudi Arabia (KSA). Over the past twenty years, CAD has become the leading cause of death in KSA and has reached epidemic proportions. This rise is undoubtedly caused by fast urbanization that is associated with a life-style that promotes CAD. However, the question remains whether genetics play a significant role and whether genetic susceptibility is increased in KSA compared to the well-studied Western European populations. Therefore, we performed an Exome-wide association study (EWAS) in 832 patients and 1,076 controls of Saudi Arabian origin to test whether population specific, strong genetic risk factors for CAD exist, or whether the polygenic risk score for known genetic risk factors for CAD, lipids, and Type 2 Diabetes show evidence for an enriched genetic burden. Our results do not show significant associations for a single genetic locus. However, the heritability estimate for CAD for this population was high (h2 = 0.53, S.E. = 0.1, p = 4e-12) and we observed a significant association of the polygenic risk score for CAD that demonstrates that the population of KSA, at least in part, shares the genetic risk associated to CAD in Western populations.
Saudi medical journal, 2014
To compare the performance of 3 commonly used 25-hydroxyvitamin D (25-OHD) assays among a sample ... more To compare the performance of 3 commonly used 25-hydroxyvitamin D (25-OHD) assays among a sample of the Saudi population. This cross-sectional study was carried out between January 2011 and December 2012 at King Fahd Hospital of the University, Al-Khobar, Saudi Arabia. After informed consent, blood samples for measurement of 25-OHD level was extracted from 200 adults. The vitamin D level of each individual were determined using chemiluminescence immunoassay (CLIA), radio-immuno assay (RIA), and liquid chromatography-tandem mass spectrometry (LC-MS/MS) assay. Assays were also compared through commonly used cut-points for classification of vitamin D deficiency. Bias between assays was evaluated using Bland-Altman plots. The average age of patients was 45.7+/-16.1 years. A significant difference between the assays was found. The mean 25-OHD levels were highest for the LC-MS/MS (21.65 ng/mL, 95% CI 19.74-23.56), intermediate for RIA (16.607 ng/mL, 95% CI 14.87-18.32), and lowest for C...
Saudi Journal of Medicine and Medical Sciences, 2013
Journal of Ayub Medical College, Abbottabad : JAMC
Thymoquinone is the major active principle of Nigella sativa (N. sativa) and constitutes about 30... more Thymoquinone is the major active principle of Nigella sativa (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 LD50 of thymoquinone both in mice and rats, orally as well as intraperitoneall, by the method of Miller and Tainter. Autopsy and histopathology of liver, kidney, heart and lungs were also determined. The LD50 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...