<i>GSTT1</i>(rs4025935) null genotype is associated with increased risk of sickle cell disease in the populations of Tabuk—Northwestern region of Saudi Arabia

Abuduhier, Faisel M.; Mir, Rashid

doi:10.1080/10245332.2016.1201631

Cited by 6 publications

(4 citation statements)

References 29 publications

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“…El‐Hazmi et al described the genotypes and phenotypes of SCD in the Arab population in 2011 8 . Since then, there have been many new studies describing variants of SCD genotypes and phenotypes, and with the emerging era of gene therapy for SCD, it is essential to compile the current evidence, especially in the last 5 years 22‐44 . We will pool all data describing the genotypic and phenotypic variants of SCD in the Arab population to date in a systematic review.…”

Section: Discussionmentioning

confidence: 99%

Protocol for “Genetic composition of sickle cell disease in the Arab population: A systematic review”

Ata

Yousaf

Sardar

et al. 2022

Health Science Reports

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Background: Sickle Cell Disease (SCD) is a global health issue in hematology with a progressively increasing prevalence. There are recent advances in the management of SCD, with new drugs being introduced. It is essential to analyze the genetic makeup of SCD regionally to anticipate the effectiveness of management modalities. This systematic review's main objectives are (a) to combine the existing knowledge of the genetic composition of SCD in the Arab population and (b) to analyze the various phenotypes of SCD prevalent in the Arab population. Methods: We will perform a systematic review and search multiple electronic databases predefined search terms to identify eligible articles. Eligible studies should report findings on the genetic testing of Sickle Cell disease in the 22 Arab countries.Case reports, case series, observational studies with cross-sectional or prospective research design, case-control studies, and experimental studies will be included. Study quality will be independently evaluated by two reviewers using the statistical methodology and categories guided by the Cochrane Collaboration Handbook and PRISMA guidelines.Discussion: This review will explore and integrate the evidence available on the various genotypes and phenotypes of SCD in the Arab population. By acquiring and summarizing data about the genetic and phenotypic variants of the SCD patient population, this study will add to the knowledge and help find more precise treatments.

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Section: Discussionmentioning

confidence: 99%

Protocol for “Genetic composition of sickle cell disease in the Arab population: A systematic review”

Ata

Yousaf

Sardar

et al. 2022

Health Science Reports

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“…GST M1 and T1 genotyping were performed by multiplex PCR. The primers were also used previously (Table 2) [7]. Patient and control genomic DNA (50 ng) was amplified in a reaction volume of 25 μL, which was composed of 25 pmol of each of the primers depicted in Table 2.…”

Section: Multiplex Pcr Gst M1 and T1 Genotypingmentioning

confidence: 99%

Severe COVID-19 Pneumonia and Genetic Susceptibility: A Case Report and Literature Review

Alsayed¹,

Mir²

2022

Cureus

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Genetic susceptibility to severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) morbidity and mortality continues to evolve. This report presents a case of an apparently healthy male adult who developed severe coronavirus disease 2019 (COVID-19) and a study on relevant genetic mutations, namely, angiotensin-converting enzyme 2 (ACE2-rs4646994 I/D) gene, glutathione S-transferase (GST) M1 and T1 gene, and miR-423 rs6505162 C>A gene polymorphism. Results showed that the ACE-DD genotype of ACE2, (GSTM1+/+) (GSTT1−/−) genotype of GST gene, and CA genotype (heterozygosity) of miR-423 rs6505162 genes, which were found in the patient, could be independent risk factors of severe COVID-19, even without comorbidities.

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“…Sickle cell anemia (SCA) is a monogenetic hematological disorder caused by homozygosity mutation in the beta-globin gene on chromosome 11 [ 1 ]. SCA was the “first molecular disease”, where technological innovations and chemical differences used to evaluate the abnormality of genes [ 2 ]. According to the World Health Organization (WHO), 5.2% of the world’s population is affected by SCD and this percentage varies in Saudi Arabia’s population according to provinces and areas [ 3 ].…”

Section: Introductionmentioning

confidence: 99%

“…According to the World Health Organization (WHO), 5.2% of the world’s population is affected by SCD and this percentage varies in Saudi Arabia’s population according to provinces and areas [ 3 ]. The Saudi population is considered at high risk of suffering from SCA due to traditional, cultural, and social factors [ 2 , 4 ]. Importantly, there are several causes for clinical and hematologic variability in SCA patients including the single mutation in the beta-globin gene, environmental effects and other genetic modifiers [ 5 , 6 ].…”

Section: Introductionmentioning

confidence: 99%

Molecular Determination of Vascular Endothelial Growth Factor, miRNA-423 Gene Abnormalities by Utilizing ARMS-PCR and Their Association with Fetal Hemoglobin Expression in the Patients with Sickle Cell Disease

Hamadi

Mir

Mahzari

et al. 2022

CIMB

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Recent studies have indicated that microRNA and VEGF are considered to be genetic modifiers and are associated with elevated levels of fetal haemoglobin HbF, and thus they reduce the clinical impact of sickle haemoglobin (HbS) patients. This cross-sectional study was performed on clinical confirmed subjects of SCD cases. miR-423-rs6505162 C>T and VEGF-2578 C>A genotyping was conducted by ARMS-PCR in SCD and healthy controls. A strong clinical significance was reported while comparing the association of miR-423 C>T genotypes between SCD patients and controls (p = 0.031). The microRNA-423 AA genotype was associated with an increased severity of SCD in codominant model with odd ratio (OR = 2.36, 95% CI, (1.15–4.84), p = 0.018) and similarly a significant association was observed in recessive inheritance model for microRNA-423 AA vs (CC+CA) genotypes (OR = 2.19, 95% CI, (1.32–3.62), p < 0.002). The A allele was associated with SCD severity (OR = 1.57, 95% CI, (1.13–2.19), p < 0.007). The distribution of VEGF-2578 C>A genotypes between SCD patients and healthy controls was significant (p < 0.013). Our results indicated that in the codominant model, the VEGF-2578-CA genotype was strongly associated with increased SCD severity with OR = 2.56, 95% CI, (1.36–4.82), p < 0.003. The higher expression of HbA1 (65.9%), HbA2 (4.40%), was reported in SCD patients carrying miR-423-AA genotype than miR-423 CA genotype in SCD patients carrying miR-423 CA genotype HbA1 (59.98%), HbA2 (3.74%) whereas SCD patients carrying miR-423 CA genotype has higher expression of HbF (0.98%) and HbS (38.1%) than in the patients carrying AA genotype HbF (0.60%), HbS (36.1%). ARMS-PCR has been proven to be rapid, inexpensive and is highly applicable to gene mutation screening in laboratories and clinical practices. This research highlights the significance of elucidating genetic determinants that play roles in the amelioration of the HbF levels that is used as an indicator of severity of clinical complications of the monogenic disease. Further well-designed studies with larger sample sizes are necessary to confirm our findings.

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GSTT1(rs4025935) null genotype is associated with increased risk of sickle cell disease in the populations of Tabuk—Northwestern region of Saudi Arabia

Abstract: GSTT1 null genotype is significantly associated with increased risk of SCD among the population of northwestern region of Saudi Arabia. In addition, it may be one of the important factors responsible for hematological manifestations of SCD.

Cited by 6 publications

References 29 publications

Protocol for “Genetic composition of sickle cell disease in the Arab population: A systematic review”

Protocol for “Genetic composition of sickle cell disease in the Arab population: A systematic review”

Severe COVID-19 Pneumonia and Genetic Susceptibility: A Case Report and Literature Review

Molecular Determination of Vascular Endothelial Growth Factor, miRNA-423 Gene Abnormalities by Utilizing ARMS-PCR and Their Association with Fetal Hemoglobin Expression in the Patients with Sickle Cell Disease

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