Leptin −2548 G>A gene polymorphism is associated with lipids metabolism and TGF-β alteration in sickle cell disease

• Published in: Meta Gene Vol. 10; pp. 27 - 31
• Main Authors: Figueiredo, Camylla Vilas Boas, Carvalho, Magda Oliveira Seixas, Santiago, Rayra Pereira, Santana, Sânzio Silva, de Oliveira, Rodrigo Mota, Fiuza, Luciana Magalhães, da Guarda, Caroline Conceição, Aleluia, Milena Magalhães, do Nascimento, Valma Maria Lopes, Lyra, Isa Menezes, Ferreira, Junia Raquel Dutra, Goncalves, Marilda de Souza
• Format: Journal Article
• Language: English
• Published: Elsevier B.V 01-12-2016
• Subjects: Gene polymorphism; Leptin; Sickle cell disease; TGF-β; TGF-β; Sickle cell disease; Gene polymorphism; Leptin
• ISSN: 2214-5400; 2214-5400
• DOI: 10.1016/j.mgene.2016.10.001

Leptin is a protein with regulatory role in several body systems such as the immune system, and energy balance. Given that patients with sickle cell disease (SCD) have changes in cellular immunity and lipid metabolism, it is important to conduct research aimed understand the role of leptin in the pathophysiology of SCD.
We studied 103 patients with SCD from Northeast of Brazil in a case-control study. The investigation of the leptin −2548 G>A polymorphism in SCD individuals shows the frequency of 60.20% (62/103) for the wild genotype (GG); 34.95% (36/103) for the heterozygous genotype (AG) and 4.85% (5/103) for the variant homozygote genotype (AA). In the healthy volunteers group the polymorphism investigation indicated the frequency of 58.24% (53/91) for the wild genotype (GG); 37.36% (34/91) for the heterozygous genotype (AG) and 4.40% (4/91) for the variant homozygote genotype (AA). The AA genotype was associated with increased levels of very-low-density lipoprotein cholesterol (VLDL-C) and triglycerides among SCD patients. Furthermore, the presence of allele A was associated with the highest levels of transforming growth factor beta (TGF-β) in SCD patients.
The results suggest that the presence of the variant allele may influence the disturbances in lipid metabolism and serum levels of TGF-β described in SCD patients.