Preliminary Report on the Frequency of Pro12Ala Polymorphism of the Peroxisome Proliferator-Activated Receptor-gamma Gene in Egyptian β-Thalassemia Major Patients

El-Dafrawy, Mohamed; Hamed, Nahla A M; Ghallab, Omar; Elneely, Dalia; Elkhalifa, Marwa

doi:10.9734/ibrr/2016/28458

Cited by 1 publication

(3 citation statements)

References 0 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Regarding allele frequencies, we reported that the G allele was observed in 5% of thalassemia groups and 6% of controls, with no significant difference in allele frequency between males and females. Similar results were reported by a previous study [42], which showed a G allele frequency of 6.67% among Egyptian thalassemia patients, while it was ∼10 and 11% in South Asians and Caucasians, respectively. The frequency of the PPARγ Pro12Ala CC genotype in normal subjects was significantly higher (p = 0.024) than in patients with osteopenia [16].…”

Section: Discussionsupporting

confidence: 91%

“…Our study showed no significant difference between PPARγ Pro12 Ala gene polymorphism groups regarding Z-score values or laboratory data, including levels of ferritin, calcium, phosphorus, and ALP enzyme when using the logistic regression tests. The same results were obtained by a previous study [42]. Conversely, in a previous study, patients with the Pro 12Ala genotype (CC) had a higher risk of osteopenia (low Z-score values) [16].…”

Section: Discussionsupporting

confidence: 88%

“…As shown in the result of our study, there was no statistically significant difference in the frequency of PPAR-γ 12Ala polymorphism between patients and controls. In agreement with us, in the study by [42] that included 30 Egyptian thalassemic patients and 10 normal subjects as controls, there was no statistically significant difference between patients and controls regarding PPAR-γ 12Ala gene polymorphism.…”

Section: Discussionsupporting

confidence: 85%

See 2 more Smart Citations

Association of Bone Disorder and Gene Polymorphism of PPAR-γ Pro12 Ala in Egyptian Children with β-Thalassemia

Hamied,

Ahmed,

Eldahshan

et al. 2023

Thalassemia Reports

View full text Add to dashboard Cite

β-thalassemia is a genetic disorder affecting chromosome 16, inherited from one or both parents. In spite of the improved treatment of the hematological disorder and its complications, β-thalassemic patients still exhibit an imbalance in bone mineral turnover, resulting in diminished bone mineral density (BMD), more evident in the lumbar spine. The purpose of this study was to investigate the association between genetic polymorphism of the PPAR-γ gene and the presence of osteopenia or osteoporosis in children with β-thalassemia. This case–control study was conducted on 50 children with β-thalassemia from the pediatric hematology unit of Beni-Suef University Hospital, including 50 healthy children as the control group. The age range was 8 to 18 years. Samples of patients and control subjects were analyzed for the presence of polymorphisms of the PPAR-γ gene and other blood labs. An assay of BMD measure using dual-energy X-ray absorptiometry (DXA) was performed to investigate osteopenia or osteoporosis. Statistical analysis was used to investigate the relationship between the risk of osteopenia or osteoporosis and the presence of PPAR-γ Pro12Ala gene polymorphism. Eighteen (eleven males and seven females) of fifty patients (representing 36% of the patients group) have osteopenia with low bone mineral density (Z-score is −1 or less than 1). There was no statistically significant difference between BMD measurements in males and females. By comparing the frequency of 12 Ala gene polymorphisms between the patient group and the control group, we found that no statistically significant difference was detected. The BMD values were not significantly different between the groups of PPAR-γ Pro12Ala gene polymorphism. In conclusion, decreased BMD levels are frequent in β-thalassemia patients. PPAR-γ Pro12Ala gene polymorphism is not common in Egyptian patients with β-thalassemia. No significant relationship was found between the PPAR-γ Pro12Ala gene polymorphism and low BMD levels or osteopenia in Egyptian β-thalassemia patients. However, further studies on a larger population of Egyptian patients are needed to confirm this finding.

show abstract

Section: Discussionsupporting

confidence: 91%

Section: Discussionsupporting

confidence: 88%

Section: Discussionsupporting

confidence: 85%

See 1 more Smart Citation