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목적 : To evaluate the association of clusterin (CLU) single nucleotide polymorphisms (SNPs) in Korean individuals with exfoliation syndrome (XFS) and to investigate those SNPs’ correlations with XFS phenotypes.
방법 : A total of 101 Korean XFS patients and 154 control subjects were included in this study. Four CLU SNPs, namely rs11136000, rs2279590, rs9331888, and rs3087554, were genotyped using the TaqMan® allelic discrimination assay. A case-control association study on the allelic and genotypic frequencies of each SNP was performed, and the phenotypic features of XFS were compared in terms of those SNPs.
결과 : Of the four CLU SNPs selected for the study, none showed any significant allele or genotypic frequency differences between the XFS patients and control subjects. Also, a subgroup analysis revealed that none of the four SNPs of CLU were associated with other relevant XFS phenotypes, including bilateral involvement of XFS or the development of glaucoma.
결론 : Even though CLU gene variants have been considered candidate genetic risk factors for XFS in some ethnic groups, our data suggest that for Korean subjects, variants in CLU genes have negligible effects on the development of XFS.
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