Correlation between the single nucleotide polymorphisms of <i>IL-23R</i> gene to pulmonary tuberculosis in Southwest Chinese Han population_West China Medical Journal

Authors：

ZHOU Wenjing , WANG Nian , WU Lijuan , SONG Jiajia , PENG Wu ,  YING Binwu

Department of Laboratory Medicine, West China Hospital, Sichuan University, Chengdu, Sichuan 610041, P. R China;

Corresponding author：

YING Binwu, Email: binwuying@126.com

Keywords：

Pulmonary tuberculosis; IL-23R gene; Single nucleotide polymorphism; Susceptibility

DOI：

10.7507/1002-0179.201907066

Video：

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Objective To explore the relationship between the single nucleotide polymorphisms of interleukin (IL)-23R gene and susceptibility to pulmonary tuberculosis in Southwest Chinese Han population.Methods A total of 680 pulmonary tuberculosis patients (pulmonary tuberculosis group) and 680 healthy controls (healthy control group) diagnosed or examined between January 2014 and February 2016 were recruited from West China Hospital, Sichuan University. Improved multiplex ligation detection reaction (iMLDR) method was used to detect the polymorphism of rs1495965, rs7518660, rs7532161, rs10889677 and rs11465802 of IL-23R gene. The differences in allele frequency distribution, genotype, and genetic model of these five loci between pulmonary tuberculosis patients and healthy control were conducted by using SPSS20.0 and PLINK 1.07. Linkage disequilibrium and haplotype analysis were also carried out by Haploview 4.2.Results Finally, 657 pulmonary tuberculosis patients and 669 healthy controls were enrolled for further analyzed. The difference in the allele frequency distribution A (P=0.048), AA genotype (P=0.048) and additive model AA/GG (P=0.048) in rs1495965 was significant between the pulmonary tuberculosis group and healthy control group when we adjusted the gender and age. However, after correction by Bonferroni, the differences in allele frequency distribution, genotype and additive model of all these five loci between the two groups were not statistically significant (P>0.05). rs7518660, rs10889677 and rs11465802 had strong linkage disequilibrium (LD) with each other (r²>0.80); however, there was no association between haplotype GCA and tuberculosis susceptibility (P=0.343).Conclusions There is no association between rs1495965, rs7518660, rs7532161, rs10889677 and rs11465802 of IL-23R gene and genetic pulmonary tuberculosis susceptibility in Southwest Chinese Han population. To add loci in the coding region and analysis in different populations is necessary.

Citation： ZHOU Wenjing, WANG Nian, WU Lijuan, SONG Jiajia, PENG Wu, YING Binwu. Correlation between the single nucleotide polymorphisms of IL-23R gene to pulmonary tuberculosis in Southwest Chinese Han population. West China Medical Journal, 2019, 34(8): 863-869. doi: 10.7507/1002-0179.201907066 Copy

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7.	Khader SA, Bell GK, Pearl JE, et al. IL-23 and IL-17 in the establishment of protective pulmonary CD4(+) T cell responses after vaccination and during Mycobacterium tuberculosis challenge. Nat Immunol, 2007, 8(4): 369-377.
8.	Cargill M, Schrodi SJ, Chang M, et al. A large-scale genetic association study confirms IL12B and leads to the identification of IL23R as psoriasis-risk genes. Am J Hum Genet, 2007, 80(2): 273-290.
9.	Gerosa F, Baldani-Guerra B, Lyakh LA, et al. Differential regulation of interleukin 12 and interleukin 23 production in human dendritic cells. J Exp Med, 2008, 205(6): 1447-1461.
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12.	Zhao Z, Peng W, Hu X, et al. SFRP1 variations influence susceptibility and immune response to Mycobacterium tuberculosis in a Chinese Han population. Infect Genet Evol, 2016, 37: 259-265.
13.	Ben-Selma W, Boukadida J. IL23R (Arg381Gln) functional polymorphism is associated with active pulmonary tuberculosis severity. Clin Vaccine Immunol, 2012, 19(8): 1188-1192.
14.	Jiang D, Wubuli A, Hu X, et al. The variations of IL-23R are associated with susceptibility and severe clinical forms of pulmonary tuberculosis in Chinese Uygurs. BMC Infect Dis, 2015, 15: 550.
15.	金鎏, 张治国, 曹树辉, 等. 汉族人群中白介素 23 受体基因多态性与肺结核易感性的关联性研究. 中国防痨杂志, 2017, 39(5): 499-505.
16.	Zhao L, Chu H, Xu X, et al. Association between single-nucleotide polymorphism in CISH gene and susceptibility to tuberculosis in Chinese Han population. Cell Biochem Biophys, 2014, 68(3): 529-534.
17.	Möller M, de Wit E, Hoal EG. Past, present and future directions in human genetic susceptibility to tuberculosis. FEMS Immounol Med Microbiol, 2010, 58(1): 3-26.
18.	Parham C, Chirica M, Timans J, et al. A receptor for the heterodimeric cytokine IL-23 is composed of IL-12Rbeta1 and a novel cytokine receptor subunit, IL-23R. J Immunol, 2002, 168(11): 5699-5708.
19.	Schindler C, Plumlee C. Inteferons open the JAK-STAT pathway. Semin Cell Dev Biol, 2008, 19(4): 311-318.
20.	Ouyang W, Kolls JK, Zheng Y. The biological functions of T helper 17 cell effector cytokines in inflammation. Immunity, 2008, 28(4): 454-467.
21.	Seiderer J, Elben I, Diegelmann J, et al. Role of the novel Th17 cytokine IL-17F in inflammatory bowel disease (IBD): upregulated colonic IL-17F expression in active Crohn’s disease and analysis of the IL17F p. His161Arg polymorphism in IBD. Inflamm Bowel Dis, 2008, 14(4): 437-445.
22.	Mosayebian A, Ganjalikhani Hakemi M, Meshkat R, et al. Association between interleukin-23 receptor R381Q gene. Iran J Allergy Asthma Immunol, 2015, 14(4): 386-391.
23.	Pidasheva S, Trifari S, Phillips A, et al. Functional studies on the IBD susceptibility gene IL23R implicate reduced receptor function in the protective genetic variant R381Q. PLoS One, 2011, 6(10): e25038.

1. World Health Organization. Global tuberculosis report 2018. (2018-09-18)[201-07-02]. https://www.who.int/tb/publications/global_report/en/.
2. Cantini F, Nannini C, Niccoli L, et al. Guidance for the management of patients with latent tuberculosis infection requiring biologic therapy in rheumatology and dermatology clinical practice. Autoimmun Rev, 2015, 14(6): 503-509.
3. Davila S, Hibberd ML, Hari Dass R, et al. Genetic association and expression studies indicate a role of toll-like receptor 8 in pulmonary tuberculosis. PLoS Genet, 2008, 4(10): e1000218.
4. Oppmann B, Lesley R, Blom B, et al. Novel p19 protein engages IL-12p40 to form a cytokine, IL-23, with biological activities similar as well as distinct from IL-12. Immunity, 2000, 13(5): 715-725.
5. Che Mat NF, Zhang X, Guzzo C, et al. Interleukin-23-induced interleukin-23 receptor subunit expression is mediated by the Janus kinase/signal transducer and activation of transcription pathway in human CD4 T cells. J Interferon Cytokine Res, 2011, 31(4): 363-371.
6. Leepiyasakulchai C, Taher C, Chuquimia OD, et al. Infection rate and tissue localization of murine IL-12p40-producing monocyte-derived CD103(+) lung dendritic cells during pulmonary tuberculosis. PLoS One, 2013, 8(7): e69287.
7. Khader SA, Bell GK, Pearl JE, et al. IL-23 and IL-17 in the establishment of protective pulmonary CD4(+) T cell responses after vaccination and during Mycobacterium tuberculosis challenge. Nat Immunol, 2007, 8(4): 369-377.
8. Cargill M, Schrodi SJ, Chang M, et al. A large-scale genetic association study confirms IL12B and leads to the identification of IL23R as psoriasis-risk genes. Am J Hum Genet, 2007, 80(2): 273-290.
9. Gerosa F, Baldani-Guerra B, Lyakh LA, et al. Differential regulation of interleukin 12 and interleukin 23 production in human dendritic cells. J Exp Med, 2008, 205(6): 1447-1461.
10. 梁美君, 陈冬, 林志斌, 等. 中国华南地区局部变应性鼻炎患者的临床特征. 中山大学学报(医学科学版), 2016, 37(4): 585-590.
11. 中华人民共和国卫生和计划生育委员会. 中华人民共和国卫生行业标准(肺结核诊断): WS 288－2008, 2008.
12. Zhao Z, Peng W, Hu X, et al. SFRP1 variations influence susceptibility and immune response to Mycobacterium tuberculosis in a Chinese Han population. Infect Genet Evol, 2016, 37: 259-265.
13. Ben-Selma W, Boukadida J. IL23R (Arg381Gln) functional polymorphism is associated with active pulmonary tuberculosis severity. Clin Vaccine Immunol, 2012, 19(8): 1188-1192.
14. Jiang D, Wubuli A, Hu X, et al. The variations of IL-23R are associated with susceptibility and severe clinical forms of pulmonary tuberculosis in Chinese Uygurs. BMC Infect Dis, 2015, 15: 550.
15. 金鎏, 张治国, 曹树辉, 等. 汉族人群中白介素 23 受体基因多态性与肺结核易感性的关联性研究. 中国防痨杂志, 2017, 39(5): 499-505.
16. Zhao L, Chu H, Xu X, et al. Association between single-nucleotide polymorphism in CISH gene and susceptibility to tuberculosis in Chinese Han population. Cell Biochem Biophys, 2014, 68(3): 529-534.
17. Möller M, de Wit E, Hoal EG. Past, present and future directions in human genetic susceptibility to tuberculosis. FEMS Immounol Med Microbiol, 2010, 58(1): 3-26.
18. Parham C, Chirica M, Timans J, et al. A receptor for the heterodimeric cytokine IL-23 is composed of IL-12Rbeta1 and a novel cytokine receptor subunit, IL-23R. J Immunol, 2002, 168(11): 5699-5708.
19. Schindler C, Plumlee C. Inteferons open the JAK-STAT pathway. Semin Cell Dev Biol, 2008, 19(4): 311-318.
20. Ouyang W, Kolls JK, Zheng Y. The biological functions of T helper 17 cell effector cytokines in inflammation. Immunity, 2008, 28(4): 454-467.
21. Seiderer J, Elben I, Diegelmann J, et al. Role of the novel Th17 cytokine IL-17F in inflammatory bowel disease (IBD): upregulated colonic IL-17F expression in active Crohn’s disease and analysis of the IL17F p. His161Arg polymorphism in IBD. Inflamm Bowel Dis, 2008, 14(4): 437-445.
22. Mosayebian A, Ganjalikhani Hakemi M, Meshkat R, et al. Association between interleukin-23 receptor R381Q gene. Iran J Allergy Asthma Immunol, 2015, 14(4): 386-391.
23. Pidasheva S, Trifari S, Phillips A, et al. Functional studies on the IBD susceptibility gene IL23R implicate reduced receptor function in the protective genetic variant R381Q. PLoS One, 2011, 6(10): e25038.

West China Medical Journal

Correlation between the single nucleotide polymorphisms of IL-23R gene to pulmonary tuberculosis in Southwest Chinese Han population

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