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학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
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논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2020.1
- 수록면
- 1,189 - 1,196 (8page)
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Background Vitamin D (Vit. D) is used extensively during tuberculosis treatment. Low levels of serum Vit. D increase the risk of active tuberculosis development. Altered expression of the proteins involved in Vit. D metabolism impairs cathelicidin production, thereby increasing the host susceptibility to tuberculosis. Objective We are trying to investigate whether single nucleotide polymorphisms (SNPs) in LRP2, CUBN, and VDR genes could afect tuberculosis development. Methods We included participants of the Korean Association Resource (KARE), part of the Korean Genome and Epidemiology Study (KoGES), and used their recorded data. A total of 8840 people (4182 men and 4658 women) were eligible subjects. The 5-kb regions from the ends of transcripts of GC, LRP2, CUBN, and VDR genes were amplifed to select 13, 47, 70, and 15 SNPs, respectively. For association analysis and statistical analysis, PLINK version 1.07 and PASW Statistics version 18.0 were used. Results Signifcant correlation was observed in 11, 2, and 1 SNPs in LRP2, CUBN, and VDR genes. The efect of rs6747692 of LRP2 on transcription factor binding was confrmed using RegulomeDB. We confrmed that rs2239182 of VDR is located in the genomic eQTL region and can afect transcription factor binding and gene expression. Conclusions Genetic polymorphisms in genes encoding proteins involved in Vit. D metabolism infuence immune system components. Therefore, such polymorphisms may infuence the susceptibility to Mycobacterium tuberculosis invasion and alter the defense mechanisms against Mycobacterium tuberculosis infection. The correlation between genetic variation and tuberculosis development can provide new guidelines for the management of tuberculosis.
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