New Surprises from an Old Anti-Apoptotic Gene: Pleiotropic Effects of PPAR-Α Variants in a Hematologic Disorder

Proceedings

Ergoren, Mahmut Cerkez¹ 

[1] Depatment of Medical Biology, Faculty of Medicine, Near East University 99138 Nicosia, Mersin 10, Turkey

关键词: PPARA;    anti-apoptotic gene;    thalassemia;    polymorphism;    cyprus;   

DOI  :  10.3390/proceedings2251549

学科分类：社会科学、人文和艺术（综合）

来源: mdpi

【 摘 要 】

Beta-thalassemiais one of most common autosomal recessive hematologic disorder. Alterations in the lipid profile have been reported consistent with β-thalassemia, but the pathogenesis is not clear. Genetics variations within in both the coding and noncoding regions of the PPAR-alfa gene locus contribute to dyslipidemias and imply hematologic risks. Therefore, this study is designed to investigate the lipid profiles in patients with β-thalassemia major and intermediate and examine the possible association with dyslipidemias causing susceptibility PPAR-α gene variants in the population of Turkish Cypriots, where the prevalence of thalassemia and carriers are very high. Our results showed the strong association with the PPAR-α rs4253778 CC genotype and triglyceride in beta-thalassemia major and intermediate patient. It is tempting to speculate here that the PPAR-α gene rs4253778 CC genotype could possibly impair triglyceride metabolism more effectively in beta thalassemia major and intermediate subjects. Overall, the results from our study establish the homozygous wild-type C allele at the PPAR-α rs4253778 locus as a genetic risk factor with a riglyceride-elevating effect in a population of Turkish Cypriot β-thalassemia patients.

【 授权许可】

CC BY