Introduction: 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.
Methods: 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.
Results: Of 138 Ashkenazi Jewish patients, 31 patients had platelet counts <60,000/mm<PRE>3</PRE> and 37 patients had normal platelet counts (>150,000/mm<PRE>3</PRE>). Of the former group, 4/31 (13%) and of the latter group, 3/37 (8%), had the CC genotype. Although all seven patients had relatively mild Gaucher disease (only one required therapy), there was no statistically significant difference in allele frequency of the IL-6 promoter polymorphism in either group relative to healthy Ashkenazi Jews.
Conclusion: 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.