Molecular study for Acromegaly and the growth hormone-insulin-like growth factor-1 axis

Abstract

The current study was conducted with the aim of studying the molecular relationship between acromegaly (local gigantism) and the human growth hormone axis - insulin-like growth factor-1, as the gene responsible for growth hormone is part of a cluster that contains a group of 4 genes that have a relationship affecting the erasure of growth hormone - Insulin-like growth factor-1. The current study indicated that there is a relationship between variations in the genetic loci rs1423321088, rs1410860750, rs5388 and the occurrence of gigantism, and that the heterozygote variant is the most prevalent. We also found that the C allele was associated with a lower risk of acromegaly compared to other alleles. The statistical analysis also showed a significant correlation between the genotype (TT vs CC vs TC vs GA) and a higher risk of acromegaly. The study also indicates that the studied genetic loci are responsible for important sites on the growth hormone protein. And the variable frequencies of the allele between different races, geographical regions and populations led to conflicting results regarding the polymorphism of genetic loci.