Platelet counts and interleukin-6 (IL-6) promoter polymorphism in patients with Gaucher disease

The purpose of this study was to ascertain whether polymorphism of the IL-6 promoter gene affects platelet counts among patients with Gaucher disease since it has been shown that in healthy individuals, the CC genotype is correlated with lower platelet counts.

Blood samples from all adult patients seen at a referral clinic during a 12 month period were taken for PCR analysis for the IL-6 promoter polymorphism. Platelet counts were culled from the records on date of presentation and prior to advent of enzyme replacement therapy where relevant.

Of 138 Ashkenazi Jewish patients, 31 patients had platelet counts <60,000/mm

3

3

Whether comparing patients with Gaucher disease with normal platelet counts or with thrombocytopenia to healthy Ashkenazi Jews, there was no difference in frequency of the CC state. Thus, the IL-6 promoter polymorphism may not influence Gaucher disease to induce lower platelet counts as shown in other normal Caucasians.