Papers by Arjumand S. Warsy
Saudi medical journal, 1998
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OncoTargets and Therapy, 2016
The present study aimed at investigating the relationship between rs1801320 (G&am... more The present study aimed at investigating the relationship between rs1801320 (G>C), rs1801321 (G>T), and rs2619681 (C>T) RAD51 gene polymorphisms and the risk of breast cancer development in Saudi females. The genotypes were analyzed using TaqMan genotyping assay and polymerase chain reaction-restriction fragment length polymorphism. The genotype and allele frequencies were computed using chi-square or Fisher's exact test (two-tailed) by SPSS 21 software. The results showed that rs1801321G>T GG genotype and G allele frequency were strongly (P<0.0001) related to an elevated risk of breast cancer, while the mutant T allele appeared to provide protection against breast cancer development as observed from the significantly lower (P<0.0001) frequencies of the TT and GT genotypes in cancer patients compared to the healthy controls. The variant rs1801320G>C showed no significant differences in the frequencies of the genotypes and alleles in the patients and the control groups. The CC genotype and C allele frequency of rs2619681 (C>T) variant were significantly (P=0.012) higher in cancer patients, whereas the T allele showed a protective effect against cancer development. The frequencies of the three single-nucleotide polymorphisms did not differ in cancer patients with different tumor grades and human epidermal growth factor receptor 2 status (+ or -). However, the genotype frequency of rs1801320 (135G>C) differed in the patients with estrogen receptor (ER)+ and ER-, where CC genotype showed a significantly higher prevalence in the females with ER- who were suffering from breast cancer. In addition, the frequency of C allele of rs2619681 (C>T) was also significantly higher in the breast cancer patients who were ER+ and progesterone receptor (PR)+ compared to those with ER- and PR-. In the Saudi females, rs1801320 did not show an association with risk of breast cancer. Taken together, the results suggest that RAD51 rs1801321 polymorphism may be involved in the etiology of breast cancer in the Saudi females; however, further studies are necessary to confirm this relation.
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Human Heredity
The beta-thalassaemias are a heterogeneous group of inherited disorders caused by mutations in an... more The beta-thalassaemias are a heterogeneous group of inherited disorders caused by mutations in and around the structural gene of the beta-chain of the adult haemoglobin (HbA). Studies at the gene level have identified a large number of beta-thalassaemia gene variations in different populations. These findings have implications for the use of molecular diagnosis for genetic counselling and prenatal detection of the beta-thalassaemias. In our unit, we initiated studies to investigate the molecular defects in beta-thalassaemias in Saudi Arabia using amplification-refractory mutation systems, dot blot analysis and restriction endonuclease analysis, and identified mutations producing beta(+)- and beta zero-thalassaemias. Twenty of the mutations encountered in the Asian, Mediterranean, Chinese and other Arab populations were investigated. The most commonly encountered mutations in Saudi beta-thalassaemia patients were IVS-I-110, IVS-II-1, CD 39, IVS-I-5 and IVS-I 3' end (-25), while frameshifts at CD 8/9, Cap+1 (A-->C) and CD 6 mutations were identified at a low frequency. These mutations account for 84.94% of the total beta-thalassaemia mutations. The remaining 15% remain unknown. This is the first report on the type and nature of mutations in Saudi beta-thalassaemia patients. It presents frequencies of twenty mutations and emphasises the need for further detailed investigations to clarify the whole spectrum of beta-thalassaemia mutations in the Saudi population.
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Human Heredity
ABSTRACT
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Human Heredity
Glucose-6-phosphate dehydrogenase (G-6-PD) exhibits extensive heterogeneity in the Saudi populati... more Glucose-6-phosphate dehydrogenase (G-6-PD) exhibits extensive heterogeneity in the Saudi population. The polymorphism of G-6-PD was investigated in different regions of Saudi Arabia, and G-6-PD variants were separated and identified on the basis of their electrophoretic mobility and activity towards glucose-6-phosphate. G-6-PD-B+ was found to be the most common phenotype, G-6-PD-A+ was found in each region but at a variable frequency
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Annals of Saudi medicine
This study was conducted on 1409 Saudi males and females living in Makkah and Bisha areas in the ... more This study was conducted on 1409 Saudi males and females living in Makkah and Bisha areas in the Western Province of Saudi Arabia to determine the frequency of glucose-6-phosphate dehydrogenase (G-6-PD) deficiency and hemoglobin S (Hb S) genes and to investigate interactions between the two genes. The frequency of sever G-6-PD deficiency was 0.055 and 0.042 in males and females, respectively, from Makkah and 0.0767 and 0.0541 in males and females, respectively from Bisha. The normal enzyme was G-6-PD+ in both regions and the G-6-PD phenotypes identified included G-6-PD-A+, G-6-PD-Mediterranean and G-6-PD-Mediterranean-like with the frequencies 0.0288, 0.0026, 0.05497 and 0.1963, respectively in males and 0.0033, 0.0130, 0.0293 and 0.2696 respectively in the females in Makkah. In Bisha, the corresponding gene frequencies were 0.00436, 0, 0.0767 and 0.0746 in males and 0.00570, 0, 0.05413 and 0.0855 in females. Heterozygous females were not detected. The main variant producing severe and mild G-6-PD deficiency were G-6-PD-Mediterranean and G-6-PD-Mediterranean-like, respectively. Sickle cell gene was identified at a frequency of 0.029 and 0.0866 in Makkah and Bisha, respectively, and no interaction between sickle cell and G-6-PD deficiency genes were encountered.
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Tropical and geographical medicine
Sickle cell haemoglobin (Hb S) and glucose-6-phosphate dehydrogenase (G-6-PD) deficiency occur at... more Sickle cell haemoglobin (Hb S) and glucose-6-phosphate dehydrogenase (G-6-PD) deficiency occur at a variable prevalence in different regions of Saudi Arabia. The interaction between the two genes was investigated in 1859 Saudi males in different regions where the two genes were known to exist at both a high and a low frequency. The frequency of G-6-PD deficiency was the highest in the sickle cell anaemia (SS) cases. Furthermore, in all areas except Tehamat-Aseer (on the Red Sea), the frequency of G-6-PD deficiency was greater in the sickle cell heterozygotes (AS) than in the normal (AA) individuals. The interaction between G-6-PD deficiency and sickle cell gene in the homozygotes and heterozygotes may provide additional benefit against environmental and genetical factors, and may play a role in the amelioration of sickle cell disease in Saudis.
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Medical laboratory sciences
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Acta Haematologica
Sickle cell disease (SCD) occurs at a high prevalence in different parts of Saudi Arabia. Several... more Sickle cell disease (SCD) occurs at a high prevalence in different parts of Saudi Arabia. Several reports indicate that the disease follows a mild clinical course in the Saudi population of the eastern province of Saudi Arabia, while little is known about the disease in other parts of the country. This study was conducted on 53 children from the Saudi Arabian south-western province with sickle cell disease and 53 age- and sex-matched normal controls (haemoglobin AA phenotype). A statistically significant difference was encountered in the haematological parameters investigated in the two groups. The SCD patients were divided into subgroups with high and low Hb F levels, alpha- and beta-thalassaemia and glucose-6-phosphate dehydrogenase (G-6-PD) deficiency. The haematological parameters were then compared in the different sub-groups. No significant difference could be demonstrated in the haematological parameters in patients with a high or low Hb F level. In patients without thalassaemia, the red cell count, total haemoglobin and haematocrit were significantly lower, while MCV, MCH and MCHC were higher. G-6 PD deficiency existed in association with thalassaemias, and apart from a reduction in MCV and MCH, no other statistically significant difference could be demonstrated. Clinical examination revealed a severe disease with several cases suffering from the hand and foot syndrome.
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Medical laboratory sciences
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Medical laboratory sciences
Red cell pyruvate kinase (PK) activity was correlated with haematological parameters. A statistic... more Red cell pyruvate kinase (PK) activity was correlated with haematological parameters. A statistically significant negative correlation was obtained between the activity of PK and total haemoglobin, total red blood cell count, and packed cell volume, and a positive correlation with white blood cell count, reticulocyte count, and red cell indices in anaemic patients. In non-anaemic patients the correlation between PK and haematological parameters was similar except with reticulocytes, where a slightly negative, statistically non-significant correlation was obtained. It is suggested that in patients with anaemias, infections, and leucocytosis, the elevation in PK level will significantly mask PK deficiency due to associated PK deficient variants. It is therefore essential to eliminate white cells before conducting PK assays, and to make corrections for reticulocytes.
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Tropical and geographical medicine
Riboflavin (vitamin B2) status was investigated in male and female Saudis of different age groups... more Riboflavin (vitamin B2) status was investigated in male and female Saudis of different age groups in different regions of Saudi Arabia using the assay of glutathione reductase (GR) in presence and absence of flavin adenine dinucleotide (FAD) and determination of the activity coefficient (AC) for GR. The overall prevalence of riboflavin deficiency as determined by an AC value of 1.3 or above, in the male population of Al-Hafouf, Jaizan and Riyadh was found to be 32.6%, 17.8% and 17.1%, respectively, while in the female population the prevalence was 41.5%, 22.3% and 37.9%, respectively. Within each region a marked variation was found in the different age groups. In this paper the riboflavin status and the prevalence of riboflavin deficiency in three regions of Saudi Arabia is presented and the possible causes for a high prevalence of riboflavin deficiency in the Saudi population are discussed.
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Tropical and geographical medicine
This study was conducted on 81 children with sickle cell anaemia (SCA) from the south-western pro... more This study was conducted on 81 children with sickle cell anaemia (SCA) from the south-western province of Saudi Arabia. Ten of these children had associated glucose-6-phosphate dehydrogenase (G-6-PD) deficiency due to the presence of the phenotype 'G-6-PD Mediterranean'. Slightly lower, statistically non significant, values of red blood cell count, total haemoglobin, packed cell volume and red cell indices were found in SCA patients with G-6-PD deficiency. However, certain clinical features were improved in these patients. Comparison was also made with results published from the eastern province of the country, where SCA is reported to be mild. It is suggested that G-6-PD deficiency due to G-6-PD 'Mediterranean' worsens certain manifestations and improves others in SCA patients with a severe form of SCA, while improvement in haematological parameters is observed in SCA patients with mild SCA.
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Haematologia
The activity of glutathione reductase (GR) is closely associated with the riboflavin level in die... more The activity of glutathione reductase (GR) is closely associated with the riboflavin level in diet. Dietary deficiency of this water-soluble vitamin causes glutathione reductase deficiency. Furthermore, a variable frequency of GR variants with reduced activity has been reported in several populations. In an attempt to determine GR deficiency due to genetic (GR variant) and acquired causes (riboflavin deficiency), red cell GR activity was estimated in 461 male and female Saudis from the South-Western province of Saudi Arabia. The frequency of genetic GR deficiency (GR variant) was 24.5% in Saudi males and 20.3% in females. The frequency of acquired GR deficiency (riboflavin deficiency) was 17.8% and 22.4%, respectively. Interaction between genetic GR deficiency and other genetic abnormalities, i.e. sickle cell gene and glucose-6-phosphate dehydrogenase deficiency were also estimated. No specific link could be demonstrated.
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Tropical and geographical medicine
This study was conducted on 823 male and female subjects to determine the frequency of glucose-6-... more This study was conducted on 823 male and female subjects to determine the frequency of glucose-6-phosphate dehydrogenase (G-6-PD) deficiency and sickle cell gene in Al-Qunfuda, a densely populated and malaria endemic region in western Saudi Arabia. The results show the presence of both sickle cell and G-6-PD deficiency genes in this population. The prevalence of Hb S heterozygotes in the total population was 18.93% and that of homozygotes was 2.02%. The gene frequency of sickle cell gene was 0.121. G-6-PD-B+ was the normal enzyme and occurred at a frequency of 83.60% and 78.46% in the male and female population, respectively. G-6-PD variants identified included G-6-PD Mediterranean, G-6-PD-A+, G-6-PD-A- and G-6-PD-Mediterranean-like. The frequency of each variant in the male and female population was 10.65% and 9.74% for G-6-PD-Mediterranean, 2.30% and 1.53% for G-6-PD-A+, 0.46% and 0.51% for G-6-PD-A- and 3.0% and 9.74% for the G-6-PD-Mediterranean-like variants, respectively. No significant interaction between sickle cell and G-6-PD genes could be demonstrated.
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Annals of Saudi medicine
This study was conducted on 204 plasma samples obtained from Saudis living in the central provinc... more This study was conducted on 204 plasma samples obtained from Saudis living in the central province of Saudi Arabia, to determine the prevalence of alpha-1-antitrypsin (alpha1AT) phenotypes. The alpha1AT phenotypes were separated by isoelectric focusing on ampholine gels (pH 4-5). The prevalences of PiMM, MS, MZ, SZ, and ZZ were 0.8676, 0.0931, 0.0245, 0.0098, and 0.0049, respectively. The gene frequencies of the alpha1AT variants, i.e.., PiM, PiS, and PiZ, were 0.9265, 0.0515, 0.022, respectively. We describe and compare our results in a Saudi population with those reported for other populations.
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Hemoglobin
ABSTRACT
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Journal of Tropical Pediatrics
Using the restriction endonucleases, Bam HI, Bgl II, Hind III and EcoRI, the alpha-gene arrangeme... more Using the restriction endonucleases, Bam HI, Bgl II, Hind III and EcoRI, the alpha-gene arrangements were investigated in heterozygotes and homozygotes for the sickle cell haemoglobin (Hb S). In the heterozygotes (Hb AS) group the Hb S level showed a trimodal distribution due to presence of the normal alpha-globin genes (alpha alpha/alpha alpha) or of one (-alpha/alpha alpha) or two (-alpha/-alpha) alpha-genes deletions. The haematological analytes inversely correlated with the associated alpha-thalassaemia (alpha-thal.) genes. In the Hb S homozygotes (Hb SS), associated alpha-thalassaemia was found to ameliorate the clinical manifestations and improved the haematological values. Co-existing triple alpha-gene arrangement, alpha alpha alpha anti 3.7/, with Hb AS did not influence the haematological analytes. In Hb SS, presence of alpha alpha alpha anti 3.7/ resulted in a severe sickle cell anaemia (SCA) with a high severity index (> 11) and with frequent crises, transfusion requirements and hospitalizations. It is suggested that reduced level of alpha-chain ameliorates SCA while excess of alpha-globin chain production gives rise to a severe form of SCA.
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Annals of Saudi medicine
The frequency of glucose-6-phosphate dehydrogenase (G-6-PD) deficiency in 50 Hb S homozygotes (SS... more The frequency of glucose-6-phosphate dehydrogenase (G-6-PD) deficiency in 50 Hb S homozygotes (SS) and 98 Hb S heterozygotes (AS) was determined and compared with the frequency obtained in individuals with normal haemoglobin (AA). The observed number of SS patients with G-6-PD deficiency was significantly greater than the expected value (p less than 0.05). The frequency of G-6-PD deficiency in AA, AS and SS was found to be 0.172, 0.214 and 0.420, respectively. A statistically significant increase of G-6-PD deficiency was apparent in the Saudi sicklers. The possibility that G-6-PD deficiency and Hb S gene interact, influencing the survival of the carriers of these genetic abnormalities, is discussed.
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Papers by Arjumand S. Warsy