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Association Analysis of Melanocortin 3 Receptor Polymorphisms with the Risk of Pulmonary Tuberculosis

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Abstract

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.

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Acknowledgments

This work was supported by Korea Science and Engineering Foundation (KOSEF) funded by the Korea government (MEST) (No. NRF-2011-0021659) and by Soonchunhyang University Research Fund. The DNA samples were generously provided by Soonchunhyang University, Bucheon Hospital Biobank, and a member of the National Biobank of Korea, supported by the Ministry of Health, Welfare and Family Affairs, Republic of Korea.

Conflict of interest

The authors declare that they have no conflict of interest

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Authors and Affiliations

  1. Department of Genetic Epidemiology, SNP Genetics, Inc, Seoul, Republic of Korea

    Byung Lae Park, Lyoung Hyo Kim, Suhg Namgoong, Ji On Kim & Hyoung Doo Shin

  2. Department of Life Science, Sogang University, 1 Shinu-dong, Mapo-gu, Seoul, 121-742, Republic of Korea

    Lyoung Hyo Kim, Suhg Namgoong, Ji On Kim, Jason Yongha Kim & Hyoung Doo Shin

  3. Soonchunhyang Medical Science Research Institute, Soonchunhyang University Bucheon Hospital, Gyunggi-do, Bucheon, Republic of Korea

    Hun Soo Chang

  4. Genome Research Center for Allergy and Respiratory Diseases, Soonchunhyang University Bucheon Hospital, Gyunggi-do, Bucheon, Republic of Korea

    Hun Soo Chang, Jong Sook Park, An Soo Jang, Sung Woo Park, Do Jin Kim & Choon Sik Park

  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

    Hun Soo Chang, Jong Sook Park, An Soo Jang, Sung Woo Park, Do Jin Kim & Choon Sik Park

  6. Division of Allergy and Respiratory Medicine, Soonchunhyang University Seoul Hospital, Seoul, Republic of Korea

    Ki Up Kim, Yang Gee Kim & Soo-Taek Uh

  7. Division of Allergy and Respiratory Medicine, Soonchunhyang University ChunAn Hospital, ChunAn, Republic of Korea

    Ki Hyun Seo & Young Hoon Kim

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  1. Byung Lae Park
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  2. Lyoung Hyo Kim
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  4. Ji On Kim
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Corresponding authors

Correspondence to Choon Sik Park or Hyoung Doo Shin.

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Park, B.L., Kim, L.H., Namgoong, S. et al. Association Analysis of Melanocortin 3 Receptor Polymorphisms with the Risk of Pulmonary Tuberculosis. Lung 192, 857–862 (2014). https://doi.org/10.1007/s00408-014-9625-2

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  • DOI: https://doi.org/10.1007/s00408-014-9625-2

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