Polymorphisms g-2548a in the leptin gene and q223r in the leptin receptor gene: a review of their relationship with overweight and obesity

Abstract

Obesity is a complex disease determined by interactions between genes with the environment and human lifestyle. Its prevalence is associated with an increased risk of death and chronic diseases. Efforts to reduce obesity have not been successful, so research on the insights relevant to this topic is important. Leptin is a protein with a critical endocrine function in appetite control and energy metabolism. Single nucleotide polymorphisms (SNPs) for this protein and its receptor have been studied in relation to increases in body weight, indicators of obesity, and metabolic dysfunction. However, many studies have been variable in their results. The article presented is a narrative review with the purpose of investigating the relationship of common genetic variants, such as SNP LEP G-2548A and LEPR Q223R, with obesity and metabolic dysfunction. The following keywords were used: leptin (LEP), leptin receptor (LEPR), obesity, overweight, body mass index (BMI), single nucleotide polymorphisms (SNP), obesity genetics, metabolic syndrome (MeSH) during searches in NCBI , PubMed , Google Scholar and ScienceDirect (Elsevier). There were 28 studies relevant to the topic met the inclusion criteria out of 101 articles reviewed. There were four studies with significant associations, seven with none, and seven with undefined conclusions, which implies that the association of LEP and LEPR with obesity/overweight and its associated phenotypes is still inconclusive, so it is pertinent to continue studying this relationship.