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KMID : 0624620080410040334
BMB Reports
2008 Volume.41 No. 4 p.334 ~ p.337
Common MCL1 polymorphisms associated with risk of tuberculosis
Shin Hyoung-Doo

Cheong Hyun-Sub
Park Byung-Lae
Kim Lyoung-Hyo
Han Chang-Su
Lee In-Hee
Park Seung-Kyu
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£¾A) 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£¾A 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. [BMB Reports 2008; 41(4): 334-337]
KEYWORD
Linkage, MCL1, Polymorphism, Tuberculosis
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