대한의생명과학회지 (Biomedical Science Letters)

  • 제26권3호
  • /
  • Pages.238-243
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  • 2020
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  • 1738-3226(pISSN)
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  • 2288-7415(eISSN)
대한의생명과학회 (The Korean Society for Biomedical Laboratory Sciences)
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Replicated Association Study between Tuberculosis and CLCN6, DOK7, HLA-DRA in Korean

  • Kim, Sung-Soo (Department of Biomedical Laboratory Science, College of Life and Health Sciences, Hoseo University) ;
  • Park, Min (Department of Biomedical Laboratory Science, Daekyeung University) ;
  • Park, Sangjung (Department of Biomedical Laboratory Science, College of Life and Health Sciences, Hoseo University)
  • 투고 : 2020.08.31
  • 심사 : 2020.09.16
  • 발행 : 2020.09.30
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초록

Tuberculosis is a global public health problem and manifests itself as a difference in the genetic susceptibility of the host, along with the properties of Mycobacterium tuberculosis (MTB). The single nucleotide polymorphisms (SNPs) and candidate genes proposed in the Genome-wide association study (GWAS) on tuberculosis in a recently published Chinese population were reported. In this study, we investigated whether the genetic polymorphism of candidate genes related to tuberculosis is reproduced when targeting Koreans. The CLCN6 (rs12404124, rs198391, rs535107), DOK7 (rs1203104, rs1203103) and HLA-DRA (rs1051336) gene polymorphisms showed statistically significant results. In addition, it was also found whether it acts as an expression quantitative trait loci (eQTL) that can influence gene expression. This study confirmed that the genetic polymorphism of the three genes (CLCN6, DOK7, HLA-DRA) affects the development of tuberculosis and will help to understand the genetic specificity of tuberculosis and the interaction between pathogens and hosts.

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참고문헌

  1. Bergamin E, Hallock PT, Burden SJ, Hubbard SR. The cytoplasmic adaptor protein DOK7 activates the receptor tyrosine kinase MuSK via dimerization. Molecular Cell. 2010. 39: 100-109. https://doi.org/10.1016/j.molcel.2010.06.007
  2. Bhattacharyya C, Majumder PP, Pandit B. An exome wide association study of pulmonary tuberculosis patients and their asymptomatic household contacts. Infection, Genetics and Evolution. 2019. 71: 76-81. https://doi.org/10.1016/j.meegid.2019.03.006
  3. Bissay V, Maselli RA. Phenotypic differences in 2 unrelated cases carrying Identical DOK7 mutations. Journal of Clinical Neuromuscular Disease. 2019. 21: 30-34. https://doi.org/10.1097/cnd.0000000000000246
  4. Cho KS. Tuberculosis control in the republic of Korea. Epidemiol Health. 2018. 40: e2018036. https://doi.org/10.4178/epih.e2018036
  5. Cho YS, Go MJ, Kim YJ, Heo JY, Oh JH, Ban HJ, Yoon D, Lee MH, Kim DJ, Park M, Cha SH, Kim JW, Han BG, Min H, Ahn Y, Park MS, Han HR, Jang HY, Cho EY, Lee JE, Cho NH, Shin C, Park T, Park JW, Lee JK, Cardon L, Clarke G, McCarthy MI, Lee JY, Lee JK, Oh B, Kim HL. A large-scale genome-wide association study of Asian populations uncovers genetic factors influencing eight quantitative traits. Nat Genet. 2009. 41: 527-534. https://doi.org/10.1038/ng.357
  6. Comstock GW. Tuberculosis in twins: a re-analysis of the prophit survey. The American Review of Respiratory Disease. 1978. 117: 621-624.
  7. Harishankar M, Selvaraj P, Bethunaickan R. Influence of genetic polymorphism towards pulmonary tuberculosis susceptibility. Frontiers in Medicine. 2018. 5: 213. https://doi.org/10.3389/fmed.2018.00213
  8. Jentsch TJ, Gunther W. Chloride channels: an emerging molecular picture. BioEssays. 1997. 19: 117-126. https://doi.org/10.1002/bies.950190206
  9. Jentsch TJ, Gunther W, Pusch M, Schwappach B. Properties of voltage-gated chloride channels of the ClC gene family. Journal of Physiology. 1995. 482: 19S-25S.
  10. Jentsch TJ, Stein V, Weinreich F, Zdebik AA. Molecular structure and physiological function of chloride channels. Physiological Reviews. 2002. 82: 503-568. https://doi.org/10.1152/physrev.00029.2001
  11. Jin HS, Cho JE, Park S. Association between CD53 genetic polymorphisms and tuberculosis cases. Genes & Genomics. 2019. 41: 389-395. https://doi.org/10.1007/s13258-018-0764-3
  12. Korbee CJ, Heemskerk MT, Kocev D, Strijen E, Rabiee O, Franken KLMC, Wilson L, Savage NDL, Dzeroski S, Haks MC, Ottenhoff THM. Combined chemical genetics and data-driven bioinformatics approach identifies receptor tyrosine kinase inhibitors as host-directed antimicrobials. Nature Communications. 2018. 9: 358. https://doi.org/10.1038/s41467-017-02777-6
  13. Lamb FS, Graeff RW, Clayton GH, Smith RL, Schutte BC, McCray Jr PB. Ontogeny of CLCN3 chloride channel gene expression in human pulmonary epithelium. American Journal of Respiratory Cell and Molecular Biology. 2001. 24: 376-381. https://doi.org/10.1165/ajrcmb.24.4.4114
  14. Pandey AK, Sassetti CM. Mycobacterial persistence requires the utilization of host cholesterol. Proceedings of the National Academy of Sciences of the United States of America. 2008. 105: 4376-4380. https://doi.org/10.1073/pnas.0711159105
  15. Qi H, Zhang YB, Sun L, Chen C, Xu B, Xu F, Liu JW, Liu JC, Chen C, Jiao WW, Shen C, Xiao J, Li JQ, Guo YJ, Wang YH, Li QJ, Yin QQ, Li YJ, Wang T, Wang XY, Gu ML, Yu J, Shen AD. Discovery of susceptibility loci associated with tuberculosis in Han Chinese. Human Molecular Genetics. 2017. 26: 4752-4763. https://doi.org/10.1093/hmg/ddx365
  16. Shiina T, Inoko H. [HLA gene region and its diversity]. Nihon Rinsho Geka Gakkai Zasshi. 2005. 4: 293-298.
  17. Trowsdale J. The MHC, disease and selection. Immunology Letters. 2011. 137: 1-8. https://doi.org/10.1016/j.imlet.2011.01.002
  18. WHO. Global tuberculosis report 2019. Global Tuberculosis Report. 2019.
  19. Willer CJ, Schmidt EM, Sengupta S, Peloso GM, Gustafsson S, Kanoni S, Ganna A, Chen J, Buchkovich ML, Mora S, Beckmann JS, Bragg-Gresham JL, Chang HY, Demirkan A, Hertog HMD, Do R, Donnelly LA, Ehret GB, Esko T, Feitosa MF, Ferreira T, Fischer K, Fontanillas P, Fraser RM, Freitag DF, Gurdasani D, Heikkila K, Hypponen E, Isaacs A, Jackson AU, Johansson A, Johnson T, Kaakinen M, Kettunen J, Kleber ME, Li X, Luan J, Lyytikainen LP, Magnusson PKE, Mangino M, Mihailov E, Montasser ME, Muller-Nurasyid M, Nolte IM, O'Connell JRD, Palmer C, Perola M, Petersen AK, Sanna S, Saxena R, Service SK, Shah S, Shungin D, Sidore C, Song C, Strawbridge RJ, Surakka I, Tanaka T, Teslovich TM, Thorleifsson G, Herik EGV, Voight BF, Volcik KA, Waite LL, Wong A, Wu Y, Zhang W, Absher DGA, Barroso I, Been LF, Bolton JL, Bonnycastle LL, Brambilla P, Burnett MS, Cesana G, Dimitriou M, Doney ASF, Doring A, Elliott P, Epstein SE, Eyjolfsson GI, Gigante B, Goodarzi MO, Grallert H, Gravito ML, Groves CJ, Hallmans G, Hartikainen AL, Hayward C, Hernandez D, Hicks AA, Holm H, Hung YJ, Illig T, Jones MR, Kaleebu P, Kastelein JJP, Khaw KT, Kim E, Klopp N, Komulainen P, Kumari M, Langenberg C, Lehtimaki T, Lin SY, Lindstrom J, Loos RJF, Mach F, McArdle WL, Meisinger C, Mitchell BD, Muller G, Nagaraja R, Narisu N, Nieminen TVM, Nsubuga RN, Olafsson I, Ong KK, Palotie A, Papamarkou T, Pomilla C, Pouta A, Rader DJ, Reilly MP, Ridker PM, Rivadeneira F, Rudan I, Ruokonen A, Samani N, Scharnagl H, Seeley J, Silander K, Stancakova A, Stirrups K, Swift AJ, Tiret L, Andre G, Uitterlinden AG, Pelt LJ, Vedantam S, Wainwright N, Wijmenga C, Wild SH, Willemsen G, Wilsgaard T, Wilson JF, Young EH, Zhao JH, Adair LS, Arveiler D, Assimes TL, Bandinelli S, Bennett F, Bochud M, Boehm BO, Boomsma DI, Borecki IB, Bornstein SR, Bovet P, Burnier M, Campbell H, Chakravarti A, Chambers JC, Chen YDI, Collins FS, Cooper RS, Danesh J, Dedoussis G, Faire U, Feranil AB, Ferrieres J, Ferrucci L, Freimer NB, Gieger C, Groop LC, Gudnason V, Gyllensten U, Hamsten A, Harris TB, Hingorani A, Hirschhorn JN, Hofman A, Hovingh GK, Hsiung CA, Humphries SE, Hunt SC, Hveem K, Iribarren C, Jarvelin MR, Jula A, Kahonen M, Kaprio J, Kesaniemi A, Kivimaki M, Kooner JS, Koudstaal PJ, Krauss RM, Kuh D, Kuusisto J, Kyvik KO, Laakso M, Lakka TA, Lind L, Lindgren CM, Martin NG, Marz W, McCarthy MI, McKenzie CA, Meneton P, Metspalu A, Moilanen L, Morris AD, Munroe PB, Njolstad I, Pedersen NL, Power C, Pramstaller PP, Price JF, Psaty BM, Quertermous T, Rauramaa R, Saleheen D, Salomaa V, Sanghera DK, Saramies J, Schwarz PEH, Sheu WHH, Shuldiner AR, Siegbahn A, Spector TD, Stefansson K, Strachan DP, Tayo BO, Tremoli E, Tuomilehto J, Uusitupa M, Duijn CM, Vollenweider P, Wallentin L, Wareham NJ, Whitfield JB, Wolffenbuttel BHR, Ordovas JM, Boerwinkle E, Palmer CNA, Thorsteinsdottir U, Chasman DI, Rotter JI, Franks PW, Ripatti S, Cupples LA, Sandhu MS, Rich SS, Boehnke M, Deloukas P, Kathiresan S, Mohlke KL, Ingelsson E, Abecasis GR, Global Lipids Genetics Consortium. Discovery and refinement of loci associated with lipid levels. Nature Genetics. 2013. 45: 1274-1283. https://doi.org/10.1038/ng.2797