Common chitotriosidase duplication gene polymorphism and clinical outcome status in XXXX .

@entity1 @entity370 @entity32875 @entity244
BACKGROUND: Chitotriosidase has been found to be useful as a @entity370 biomarker. In @entity1 with better outcome lower values were observed. Some subjects have 24-base pair duplication in the chitotriosidase gene ( @entity32875 ) that results in the production of inactive enzyme. This might influence the outcome of @entity370 and account for described observations. OBJECTIVES: The aim of this study was to correlate common @entity32875 duplication polymorphism and clinical outcome status in @entity370 (COS). METHODS: This retrospective study comprised 180 @entity1 with @entity370 . COS at 3, 5 and 10 years was determined and correlated with @entity32875 24-base pair duplication polymorphism. @entity32875 genotyping was done by the PCR method. RESULTS: There was no significant correlation between @entity32875 24-base pair duplication polymorphism and COS at 3, 5 or 10 years but a subgroup analysis showed higher frequency of @entity1 with @entity244 (50% vs. 17.1%) and better COS in @entity32875 24-base pair duplication homozygotes vs. all other subjects in major COS groups (no, minimal and persistent disease) at 3 years (p=0.025) and borderline significant at 5 years (p = 0.090). CONCLUSIONS: In this study no correlation between @entity32875 24-base pair duplication polymorphism and COS was shown, but possible protective role of homozygous condition for @entity32875 24-base pair duplication polymorphism is suggested.
