Analysis of the APO B R3500Q Mutation and APOE Polymorphism in Taif Saudi Population using Polymerase Chain Reaction- Reveres Hybridization Technique

Awad, Nabil S.; El-Tarras, Adel E.

doi:10.4172/2155-9929.1000109

Cited by 4 publications

(3 citation statements)

References 50 publications

(58 reference statements)

Supporting

Mentioning

Contrasting

Order By: Relevance

“…In relevance to APO E polymorphism, the current study did not show a significant difference between allele frequencies of E4 allele between patients and controls, which is consistent with a large meta-analysis including more than 22 000 British patients which also failed to document such a link [ 54 ]. While in relevance to APO B 100 polymorphism, the current study did not show any carriers of this mutation among 179 patients and controls enrolled, which is similar to studies from neighboring Turkey and Saudi Arabia where this mutation is also absent [ 55 , 56 ]. This is in contrast to that seen among Caucasians, where this polymorphism is rather frequent and is an important contributor to MI risk [ 19 ].…”

Section: Resultssupporting

confidence: 87%

Genetic polymorphisms in early-onset myocardial infarction in a sample of Iraqi patients: a pilot study

et al. 2020

View full text Add to dashboard Cite

Objectives Early-onset myocardial infarction constitutes nearly one third of cases of myocardial infarction among Iraqis, which is rather higher than the proportions reported in many Western countries. Thus this study was initiated to investigate the role of some genetic polymorphisms, as well as acquired risk factors in this condition. Results A total of 102 Iraqi patients with first myocardial infarction aged 50 years, and 77 matched controls were enrolled. The DNAs of participants were screened for nine polymorphisms, namely: β-Fibrinogen (− 455G > A), Factor XIII (V34L), Plasminogen Activator inhibitor-1 (PAI-1, 4G/5G), Human Platelet Antigen-1 (HPA1a/b), 5,10-Methylenetetrahydrofolate Reductase MTHFR (C677T) and MTHFR (A1298C), Angiotensin-Converting Enzyme (ACE) 287 bp insertion/deletion (I/D), Apolipoprotein-B (ApoB: R3500Q), and Apolipoprotein-E (Apo E: E2/E3/E4), using PCR and reverse hybridization technique. Among traditional risk factors, univariate analysis revealed that smoking (OR 2.86 [95%CI 1.53–5.34]), hyperlipidemia (OR 5.23 [95%CI 2.66–10.29]), and diabetes mellitus (OR 4.05 [95% CI 1.57–10.41]) were significantly higher among patients compared to controls (P<0.001, <0.001 and 0.002 respectively), while none of the nine genetic polymorphisms reached significance. Multivariate Logistic regression, however, revealed that only smoking and hyperlipidemia retained significance (P of < 0.001 each). The need to initiate further studies on larger cohorts is paramount to understand the higher than expected frequency of early-onset myocardial infarction in our population.

show abstract

Section: Resultssupporting

confidence: 87%

Genetic polymorphisms in early-onset myocardial infarction in a sample of Iraqi patients: a pilot study

et al. 2020

View full text Add to dashboard Cite

show abstract

“…Our results are in agreement with the postulated effect of R3500Q mutation, which interferes with the conformation of the APOB 100 binding domain with the B / E receptor and thus reducing LDL-C affinity and consequently increasing serum levels of LDL-C and TC (12,22,23). Furthermore the R3500Q mutation is responsible for familial defective apolipoprotein B-100 (FDB) and its influence over lipid profile is studied worldwide (7,24,25). Therefore, our research contributes with data for a better understanding of genetic variants that influence changes on lipid levels in a Brazilian population sample.…”

Section: Polymorphisms Of Apoe and Apob Genes And Dyslipidemias In A ...supporting

confidence: 87%

Polymorphisms of APOE and APOB genes and dyslipidemias in a South Brazilian Cohort

Cardozo Gasparin,

Viater Tureck,

Pereira Ferrari

et al. 2024

Braz. J. Implantol. Health Sci.

View full text Add to dashboard Cite

Dyslipidemias are closely associated to the development of cardiovascular and cerebrovascular diseases, and therefore of great importance in public health. Many genes influence lipid levels, such as APOE and APOB. The present study aimed to investigate the effects of APOE gene alleles (rs7412: C>T and rs429358: T>C), and R3500Q mutation of APOB gene (rs5742904: G>A) in lipid levels in a South Brazilian cohort. 214 individuals were analyzed and the frequencies of APOE ε2, ε3 and ε4 alleles were found respectively as 9.25 ± 0.4625; 70.5 ± 3.525 and 20.25%± 1.401, while the frequency of R3500Q mutation of the APOB gene was 4.46 ± 1.00%. The ε4 allele was significantly more frequent in subjects with higher TC (Total Cholesterol) and LDL-C levels, while significantly higher frequency of the ε2 allele was found in individuals with higher HDL-C levels. The R3500Q mutation was suggested as a risk factor for higher TC levels, regardless gender and age (β = 21.326 ± 10377.78, p = 0.001).

show abstract

“…There have been several mutations identified in the apoB-100 gene leading to premature truncation of protein synthesis or to amino acid substitution within the protein such changes can influence the metabolism of plasma lipoprotein and may therefore be important in the development of hyperlipidemia and coronary heart disease [55]. Previously, It has been reported that normal ovaries lack neutrophil gelatinase associated lipocalin(NGAL) expression and that NGAL expression occurs in benign tumours and increases in early grade ovarian tumours [56]. Continuous subcutaneous insulin infusion (CSII) therapy is widely accepted for brittle type 1 diabetes, since it has the benefit of less frequency of hypoglycemia and better management of the dawn phenomenon compared to multiple daily insulin injection (MDI) therapy [57].…”

Section: Gene Therapy and Other Diagnosis Factors In Cure Of Diseasesmentioning

confidence: 99%

The Influence of Environmental and Genetic Factors on Various Disorders and Diseases

Tripathy¹,

Tushar²,

Sudharani³

2011

J Genet Syndr Gene Ther

View full text Add to dashboard Cite

Both genetic and environmental factors have been implicated in the mechanism of various disorders. Epidemiological data have shown that environmental factors can also cause and/or exacerbate the pathogenesis of these diseases. However in this article, we provide a summary of evidence for environmental and genetic factors influencing the diseases. The review also incorporates the major findings categorizing the common diseases on the basis of genetic profiles and ethnic information and in establishing personalized disease diagnosis, drug responses and treatment modalities based on the genetic determinants. These studies provide important insights into the interplay between environmental and genetic factors leading to human diseases. Overall an attempt has been made to highlight the importance of studying the genetic profiles of an individual with many factors.

show abstract

Analysis of the APO B R3500Q Mutation and APOE Polymorphism in Taif Saudi Population using Polymerase Chain Reaction- Reveres Hybridization Technique

Cited by 4 publications

References 50 publications

Genetic polymorphisms in early-onset myocardial infarction in a sample of Iraqi patients: a pilot study

Genetic polymorphisms in early-onset myocardial infarction in a sample of Iraqi patients: a pilot study

Polymorphisms of APOE and APOB genes and dyslipidemias in a South Brazilian Cohort

The Influence of Environmental and Genetic Factors on Various Disorders and Diseases

Contact Info

Product

Resources

About