The Possible Role of Gene Variant Coding Nonfunctional Toll-Like Receptor 2 in the Pathogenesis of Mastocytosis

Data on the genetic predisposition to mastocytosis are scarce. The aim of this work was to study the association of single nucleotide polymorphisms of Toll-like receptor (TLR)-2, TLR-4, and TLR-9 genes in Polish patients with mastocytosis.

The study comprised 137 patients with mastocytosis (102 cutaneous [60 children and 42 adults] and 35 systemic cases); 171 disease-free individuals were used as controls.

The frequency of polymorphisms R753Q (rs5743708) of TLR-2, 896 A>G (rs496790) of TLR-4, and -1237C>T (rs5743836) of TLR-9 genes were determined with the use of the amplification refractory mutation system polymerase chain reaction method.

It was found that the R753Q TLR-2 gene polymorphism was significantly more frequent in patients with mastocytosis in comparison to healthy controls (p = 0.037) and in the group of SM versus controls (p = 0.0076). The presence in the genotype 753Q variant of TLR-2 gene increased the risk of mastocytosis more than 2-fold (OR 2.51; p = 0.04), and the risk of SM more than 4-fold (OR 4.22; p = 0.01). TLR-4 and TLR-9 polymorphisms were not associated with mastocytosis.

Our results suggest that the R753Q polymorphism of the TLR-2 gene may be involved in the pathogenesis of mastocytosis.