Association of a novel Granulocyte-Macrophage Colony-Stimulating Factor (GM-CSF)-3928C/T and GM-CSF(3606T forward slash C) Promoter gene polymorphisms with the pathogenesis and severity of acne vulgaris: A case-controlled study

Background Granulocyte-macrophage colony-stimulating factor (GM-CSF) is believed to play an important role in the development of acne vulgaris. Aim of the Work To investigate the presence of GM-CSF 3928C/T and GM-CSF 3606 T/C promoter gene polymorphisms in Egyptian acne patients. Methods To examine whether GM-CSF single nucleotide polymorphisms (SNPs) are associated with susceptibility to acne vulgaris (AV), we investigated the genotype and allele frequencies of the SNP 3928C/T and 3606T forward slash C of the GM-CSF gene in 100 Egyptian acne patients (29 with mild acne, 38 with moderate acne, and 33 with severe acne) and 100 controls, using a PCR restriction fragment length polymorphism (RFLP) method. Results There was a highly significant difference in genotype and allele frequencies of the 3928C/T group between patients with acne vulgaris and controls for the SNP site. Regarding the 3606 T/C subgroup only a marginal significant difference was found between cases and controls in TC pattern (p = 0.039); with the TC genotype appearing more in cases (53% of patients) than controls (35% of healthy controls). Conclusion We report a novel GM-CSF 3928C/T promoter gene polymorphism contributing to the pathogenesis of acne in Egyptian population.