title: Platelet counts and interleukin-6 (IL-6) promoter polymorphism in patients with Gaucher disease.
abstract: BACKGROUND
  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.
  
  
  CONCLUSIONS
  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.
authors.forename: Deborah
authors.initials: D
authors.lastname: Elstein
authors.forename: Gheona
authors.initials: G
authors.lastname: Altarescu
authors.forename: Ari
authors.initials: A
authors.lastname: Zimran
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D016022:Case-Control Studies; D002648:Child; D002675:Child, Preschool; D005260:Female; D005776:Gaucher Disease / Q000097:blood* / Q000235:genetics*; D006801:Humans; D015850:Interleukin-6 / Q000097:blood* / Q000235:genetics*; D007585:Jews / Q000235:genetics; D008297:Male; D008875:Middle Aged; D010976:Platelet Count; D011110:Polymorphism, Genetic; D011401:Promoter Regions, Genetic; D013921:Thrombocytopenia / Q000097:blood / Q000235:genetics; D055815:Young Adult
chemical_list: D015850:Interleukin-6