Association Analysis of Melanocortin 3 Receptor Polymorphisms with the Risk of Pulmonary Tuberculosis
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- 作者：Byung Lae Park (1)
Lyoung Hyo Kim (1) (2)
Suhg Namgoong (1) (2)
Ji On Kim (1) (2)
Jason Yongha Kim (2)
Hun Soo Chang (3) (4) (5)
Jong Sook Park (4) (5)
An Soo Jang (4) (5)
Sung Woo Park (4) (5)
Do Jin Kim (4) (5)
Ki Up Kim (6)
Yang Gee Kim (6)
Soo-Taek Uh (6)
Ki Hyun Seo (7)
Young Hoon Kim (7)
Choon Sik Park (4) (5)
Hyoung Doo Shin (1) (2) - 关键词：MC3R ; Polymorphism ; Pulmonary tuberculosis ; Genetic factor
- 刊名：Lung
- 出版年：2014
- 出版时间：December 2014
- 年：2014
- 卷：192
- 期：6
- 页码：857-862
- 全文大小：397 KB
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17. Stephens M, Smith NJ, Donnelly - 作者单位：Byung Lae Park (1)
Lyoung Hyo Kim (1) (2)
Suhg Namgoong (1) (2)
Ji On Kim (1) (2)
Jason Yongha Kim (2)
Hun Soo Chang (3) (4) (5)
Jong Sook Park (4) (5)
An Soo Jang (4) (5)
Sung Woo Park (4) (5)
Do Jin Kim (4) (5)
Ki Up Kim (6)
Yang Gee Kim (6)
Soo-Taek Uh (6)
Ki Hyun Seo (7)
Young Hoon Kim (7)
Choon Sik Park (4) (5)
Hyoung Doo Shin (1) (2)
1. Department of Genetic Epidemiology, SNP Genetics, Inc, Seoul, Republic of Korea
2. Department of Life Science, Sogang University, 1 Shinu-dong, Mapo-gu, Seoul, 121-742, Republic of Korea
3. Soonchunhyang Medical Science Research Institute, Soonchunhyang University Bucheon Hospital, Gyunggi-do, Bucheon, Republic of Korea
4. Genome Research Center for Allergy and Respiratory Diseases, Soonchunhyang University Bucheon Hospital, Gyunggi-do, Bucheon, Republic of Korea
5. Division of Allergy and Respiratory Medicine, Department of Internal Medicine, Soonchunhyang University Bucheon Hospital, 1174, Jung-Dong, Wonmi-Ku, Kyeonggi-Do, Bucheon, 420-020, Republic of Korea
6. Division of Allergy and Respiratory Medicine, Soonchunhyang University Seoul Hospital, Seoul, Republic of Korea
7. Division of Allergy and Respiratory Medicine, Soonchunhyang University ChunAn Hospital, ChunAn, Republic of Korea - ISSN：1432-1750
文摘
Purpose Melanocortin 3 Receptor (MC3R) is one of the families of seven-transmembrane G-protein-coupled receptors, and a recent study showed that MCR3 promoter polymorphism was significantly associated with the susceptibility of tuberculosis (TB) in South African population. Methods We analyzed six MC3R polymorphisms to examine the genetic effects on the risk of pulmonary TB in Korean subjects by using TaqMan assays and case–control analyses. Results Using statistical analyses, one common promoter polymorphism (MC3R rs11575886 T?>?C) was found to be associated with an increased risk of pulmonary TB. The frequency of the C-bearing genotype of rs11575886 was higher in pulmonary TB patients than in normal controls (p?=?0.03, OR?=?1.46) although the significance was not retained after correction. In silico analysis for the difference of transcription binding factor (TF), motif between C and T allele demonstrated that the TF motif and its threshold scores of C allele were lower than those of T allele. Conclusions The C allele of rs11575886 could be a risk allele for the pulmonary TB by affecting the binding of TF. Our findings suggest that polymorphisms in MC3R might be one of genetic factors for the risk of pulmonary TB development in Korean subjects.