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Korean Society for Biochemistry and Molecular Biology (생화학분자생물학회)
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Common MCL1 polymorphisms associated with risk of tuberculosis

  • Shin, Hyoung-Doo (Department of Genetic Epidemiology, SNP Genetics, Inc.) ;
  • Cheong, Hyun-Sub (Department of Genetic Epidemiology, SNP Genetics, Inc.) ;
  • Park, Byung-Lae (Department of Genetic Epidemiology, SNP Genetics, Inc.) ;
  • Kim, Lyoung-Hyo (Department of Genetic Epidemiology, SNP Genetics, Inc.) ;
  • Han, Chang-Su (Department of Genetic Epidemiology, SNP Genetics, Inc.) ;
  • Lee, In-Hee (Clinical Research Center for Tuberculosis, National Masan Tuberculosis Hospital) ;
  • Park, Seung-Kyu (Clinical Research Center for Tuberculosis, National Masan Tuberculosis Hospital)
  • Received : 2007.10.10
  • Accepted : 2007.11.16
  • Published : 2008.04.30
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Abstract

MCL1 expression has been found to be up-regulated during infection with virulent Mycobacterium tuberculosis. We investigated the genetic polymorphisms in MCL1 as potential candidate gene for a host genetic study of clinical TB infection. We have sequenced exons and their boundaries of MCL1, including the 1.5 kb promoter region, to identify polymorphisms, and eight polymorphisms were identified. The genetic associations of polymorphisms in MCL1 with clinical TB patients (n=486) and normal controls (n=370) were analyzed. Using statistical analyses, one common promoter polymorphism (MCL1-324C>A) which is absolutely linked with three other SNPs in the promoter and 3'UTR regions, were found to be significantly associated with increased risk of clinical TB disease. The frequency of the A-bearing genotype of -324C>A was higher in clinical TB patients than in normal controls (P=0.0008, OR=1.68). Our findings suggest that polymorphisms in MCL1 might be one of genetic factors for the risk of clinical tuberculosis development.

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References

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