Top

Published in:

Open Access 01-12-2021 | Tuberculosis | Research

The influence of single nucleotide polymorphisms of NOD2 or CD14 on the risk of Mycobacterium tuberculosis diseases: a systematic review

Authors: Juan M. Cubillos-Angulo, Catarina D. Fernandes, Davi N. Araújo, Cristinna A. Carmo, María B. Arriaga, Bruno B. Andrade

Published in: Systematic Reviews | Issue 1/2021

Abstract

Background

Tuberculosis (TB) is still one of the leading causes of death worldwide. Genetic studies have pointed to the relevance of the NOD2 and CD14 polymorphic alleles in association with the risk of diseases caused by Mycobacterium tuberculosis (Mtb) infection.

Methods

A systematic review was performed on PubMed, EMBASE, Scientific Electronic Library Online (SciELO), and Literatura Latino-Americana e do Caribe em Ciências da Saúde (Lilacs) to examine the association between single nucleotide polymorphisms (SNP) and risk of Mtb diseases. Study quality was evaluated using the Newcastle-Ottawa Quality Scale (NOQS), and the linkage disequilibrium was calculated for all SNPs using a webtool (Package LDpop).

Results

Thirteen studies matched the selection criteria. Of those, 9 investigated CD14 SNPs, and 6 reported a significant association between the T allele and TT genotypes of the rs2569190 SNP and increased risk of Mtb diseases. The genotype CC was found to be protective against TB disease. Furthermore, in two studies, the CD14 rs2569191 SNP with the G allele was significantly associated with increased risk of Mtb diseases. Four studies reported data uncovering the relationship between NOD2 SNPs and risk of Mtb diseases, with two reporting significant associations of rs1861759 and rs7194886 and higher risk of Mtb diseases in a Chinese Han population. Paradoxically, minor allele carriers (CG or GG) of rs2066842 and rs2066844 NOD2 SNPs were associated with lower risk of Mtb diseases in African Americans.

Conclusions

The CD14 rs2569190 and rs2569191 polymorphisms may influence risk of Mtb diseases depending on the allele. Furthermore, there is significant association between NOD2 SNPs rs1861759 and rs7194886 and augmented risk of Mtb diseases, especially in persons of Chinese ethnicity. The referred polymorphisms of CD14 and NOD2 genes likely play an important role in risk of Mtb diseases and pathology and may be affected by ethnicity.

Systematic review registration

CRD42020186523

Available only for authorised users

WHO. WHO: Global tuberculosis report 2019: WHO; 2019.

Zhai W, Wu F, Zhang Y, Fu Y, Liu Z. The immune escape mechanisms of Mycobacterium tuberculosis. Int J Mol Sci. 2019;20(2):340.

van Tong H, Velavan TP, Thye T, Meyer CG. Human genetic factors in tuberculosis: an update. Trop Med Int Health. 2017;22(9):1063–71. https://doi.org/10.1111/tmi.12923.CrossRefPubMed

Rosas-Taraco AG, Revol A, Salinas-Carmona MC, Rendon A, Caballero-Olin G, Arce-Mendoza AY. CD14 C(-159)T polymorphism is a risk factor for development of pulmonary tuberculosis. J Infect Dis. 2007;196(11):1698–706. https://doi.org/10.1086/522147.CrossRefPubMed

Fouad NA, Saeed AM, Mahedy AW. Toll like receptor-4 gene polymorphism and susceptibility to pulmonary tuberculosis. Egypt J Immunol. 2019;26(2):1–10.PubMed

Yi YX, Han JB, Zhao L, Fang Y, Zhang YF, Zhou GY. Tumor necrosis factor alpha gene polymorphism contributes to pulmonary tuberculosis susceptibility: evidence from a meta-analysis. Int J Clin Exp Med. 2015;8(11):20690–700.PubMedPubMedCentral

Kleinnijenhuis J, Joosten LA, van de Veerdonk FL, Savage N, van Crevel R, Kullberg BJ, et al. Transcriptional and inflammasome-mediated pathways for the induction of IL-1beta production by Mycobacterium tuberculosis. Eur J Immunol. 2009;39(7):1914–22. https://doi.org/10.1002/eji.200839115.CrossRefPubMed

Elass E, Coddeville B, Guerardel Y, Kremer L, Maes E, Mazurier J, et al. Identification by surface plasmon resonance of the mycobacterial lipomannan and lipoarabinomannan domains involved in binding to CD14 and LPS-binding protein. FEBS Lett. 2007;581(7):1383–90. https://doi.org/10.1016/j.febslet.2007.02.056.CrossRefPubMed

Azad AK, Sadee W, Schlesinger LS. Innate immune gene polymorphisms in tuberculosis. Infect Immun. 2012;80(10):3343–59. https://doi.org/10.1128/IAI.00443-12.CrossRefPubMedPubMedCentral

10.

Bernardo J, Billingslea AM, Blumenthal RL, Seetoo KF, Simons ER, Fenton MJ. Differential responses of human mononuclear phagocytes to mycobacterial lipoarabinomannans: role of CD14 and the mannose receptor. Infect Immun. 1998;66(1):28–35. https://doi.org/10.1128/IAI.66.1.28-35.1998.CrossRefPubMedPubMedCentral

11.

Reiling N, Holscher C, Fehrenbach A, Kroger S, Kirschning CJ, Goyert S, et al. Cutting edge: Toll-like receptor (TLR)2- and TLR4-mediated pathogen recognition in resistance to airborne infection with Mycobacterium tuberculosis. J Immunol. 2002;169(7):3480–4. https://doi.org/10.4049/jimmunol.169.7.3480.CrossRefPubMed

12.

Pacheco E, Fonseca C, Montes C, Zabaleta J, Garcia LF, Arias MA. CD14 gene promoter polymorphism in different clinical forms of tuberculosis. FEMS Immunol Med Microbiol. 2004;40(3):207–13. https://doi.org/10.1016/S0928-8244(03)00369-9.CrossRefPubMed

13.

Jiao D, Wong CK, Qiu HN, Dong J, Cai Z, Chu M, et al. NOD2 and TLR2 ligands trigger the activation of basophils and eosinophils by interacting with dermal fibroblasts in atopic dermatitis-like skin inflammation. Cell Mol Immunol. 2016;13(4):535–50. https://doi.org/10.1038/cmi.2015.77.CrossRefPubMed

14.

Landes MB, Rajaram MV, Nguyen H, Schlesinger LS. Role for NOD2 in Mycobacterium tuberculosis-induced iNOS expression and NO production in human macrophages. J Leukoc Biol. 2015;97(6):1111–9. https://doi.org/10.1189/jlb.3A1114-557R.CrossRefPubMedPubMedCentral

15.

Girardin SE, Boneca IG, Viala J, Chamaillard M, Labigne A, Thomas G, et al. Nod2 is a general sensor of peptidoglycan through muramyl dipeptide (MDP) detection. J Biol Chem. 2003;278(11):8869–72. https://doi.org/10.1074/jbc.C200651200.CrossRefPubMed

16.

Genetics Home Reference [https://ghr.nlm.nih.gov/.] Accessed 3 Jan 2021.

17.

Bai X, Feldman NE, Chmura K, Ovrutsky AR, Su WL, Griffin L, et al. Inhibition of nuclear factor-kappa B activation decreases survival of Mycobacterium tuberculosis in human macrophages. PLoS One. 2013;8(4):e61925. https://doi.org/10.1371/journal.pone.0061925.CrossRefPubMedPubMedCentral

18.

Cai X, Xu Q, Zhou C, Zhou L, Dai W, Ji G. The association of nucleotide-binding oligomerization domain 2 gene polymorphisms with the risk of asthma in the Chinese Han population. Mol Genet Genomic Med. 2019;7(6):e00675. https://doi.org/10.1002/mgg3.675.CrossRefPubMedPubMedCentral

19.

Branquinho D, Freire P, Sofia C. NOD2 mutations and colorectal cancer - where do we stand? World J Gastrointest Surg. 2016;8(4):284–93. https://doi.org/10.4240/wjgs.v8.i4.284.CrossRefPubMedPubMedCentral

20.

Sidiq T, Yoshihama S, Downs I, Kobayashi KS. Nod2: a critical regulator of ileal microbiota and Crohn’s disease. Front Immunol. 2016;7:367.CrossRef

21.

Ferwerda G, Girardin SE, Kullberg BJ, Le Bourhis L, de Jong DJ, Langenberg DM, et al. NOD2 and toll-like receptors are nonredundant recognition systems of Mycobacterium tuberculosis. PLoS Pathog. 2005;1(3):279–85. https://doi.org/10.1371/journal.ppat.0010034.CrossRefPubMed

22.

Aravindan PP. Host genetics and tuberculosis: theory of genetic polymorphism and tuberculosis. Lung India. 2019;36(3):244–52. https://doi.org/10.4103/lungindia.lungindia_146_15.CrossRefPubMedPubMedCentral

23.

Zheng M, Shi S, Wei W, Zheng Q, Wang Y, Ying X, et al. Correlation between MBL2/CD14/TNF-alpha gene polymorphisms and susceptibility to spinal tuberculosis in Chinese population. Biosci Rep. 2018;38(1):BSR20171140.

24.

Xue Y, Zhao ZQ, Chen F, Zhang L, Li GD, Ma KW, et al. Polymorphisms in the promoter of the CD14 gene and their associations with susceptibility to pulmonary tuberculosis. Tissue Antigens. 2012;80(5):437–43. https://doi.org/10.1111/j.1399-0039.2012.01958.x.CrossRefPubMed

25.

Zhao M, Jiang F, Zhang W, Li F, Wei L, Liu J, et al. A novel single nucleotide polymorphism within the NOD2 gene is associated with pulmonary tuberculosis in the Chinese Han, Uygur and Kazak populations. BMC Infect Dis. 2012;12(1):91. https://doi.org/10.1186/1471-2334-12-91.CrossRefPubMedPubMedCentral

26.

Alavi-Naini R, Salimi S, Sharifi-Mood B, Davoodikia AA, Moody B, Naghavi A. Association between the CD14 gene C-159T polymorphism and serum soluble CD14 with pulmonary tuberculosis. Int J Tuberc Lung Dis. 2012;16(10):1383–7. https://doi.org/10.5588/ijtld.11.0827.CrossRefPubMed

27.

Ayaslioglu E, Kalpaklioglu F, Kavut AB, Erturk A, Capan N, Birben E. The role of CD14 gene promoter polymorphism in tuberculosis susceptibility. J Microbiol Immunol Infect. 2013;46(3):158–63. https://doi.org/10.1016/j.jmii.2012.05.008.CrossRefPubMed

28.

Kang YA, Lee HW, Kim YW, Han SK, Shim YS, Yim JJ. Association between the -159C/T CD14 gene polymorphism and tuberculosis in a Korean population. FEMS Immunol Med Microbiol. 2009;57(3):229–35. https://doi.org/10.1111/j.1574-695X.2009.00602.x.CrossRefPubMed

29.

Druszczynska M, Strapagiel D, Kwiatkowska S, Kowalewicz-Kulbat M, Rozalska B, Chmiela M, et al. Tuberculosis bacilli still posing a threat. Polymorphism of genes regulating anti-mycobacterial properties of macrophages. Pol J Microbiol. 2006;55(1):7–12.PubMed

30.

Hall NB, Igo RP Jr, Malone LL, Truitt B, Schnell A, Tao L, et al. Polymorphisms in TICAM2 and IL1B are associated with TB. Genes Immun. 2015;16(2):127–33. https://doi.org/10.1038/gene.2014.77.CrossRefPubMed

31.

Zhao MY, Xue Y, Zhao ZQ, Li FJ, Fan DP, Wei LL, et al. Association of CD14 G(-1145)A and C(-159)T polymorphisms with reduced risk for tuberculosis in a Chinese Han population. Genet Mol Res. 2012;11(3):3425–31. https://doi.org/10.4238/2012.September.25.11.CrossRefPubMed

32.

Pan H, Dai Y, Tang S, Wang J. Polymorphisms of NOD2 and the risk of tuberculosis: a validation study in the Chinese population. Int J Immunogenet. 2012;39(3):233–40. https://doi.org/10.1111/j.1744-313X.2011.01079.x.CrossRefPubMed

33.

Austin CM, Ma X, Graviss EA. Common nonsynonymous polymorphisms in the NOD2 gene are associated with resistance or susceptibility to tuberculosis disease in African Americans. J Infect Dis. 2008;197(12):1713–6. https://doi.org/10.1086/588384.CrossRefPubMed

34.

Deeks JJ, Dinnes J, D'Amico R, Sowden AJ, Sakarovitch C, Song F, et al. Evaluating non-randomised intervention studies. Health Technol Assess. 2003;7(27):iii–x 1-173.CrossRef

35.

Alexander TA, Machiela MJ. LDpop: an interactive online tool to calculate and visualize geographic LD patterns. BMC Bioinformatics. 2020;21(1):14. https://doi.org/10.1186/s12859-020-3340-1.CrossRefPubMedPubMedCentral

36.

Shen W, Xiao L, Li Y, Zhou D, Zhang W. Association between polymorphisms in mannose-binding lectin 2 gene with pulmonary tuberculosis susceptibility. Hereditas. 2020;157(1):33. https://doi.org/10.1186/s41065-020-00146-w.CrossRefPubMedPubMedCentral

37.

Wu S, Liu X, Chen L, Wang Y, Zhang M, Wang M, et al. Polymorphisms of TLR2, TLR4 and TOLLIP and tuberculosis in two independent studies. Biosci Rep. 2018;38(1):BSR20171140.

38.

Yim JJ, Selvaraj P. Genetic susceptibility in tuberculosis. Respirology. 2010;15(2):241–56. https://doi.org/10.1111/j.1440-1843.2009.01690.x.CrossRefPubMed

39.

Jurcev-Savicevic A, Katalinic-Jankovic V, Mise K, Gudelj I. The role of interferon-gamma release assay in tuberculosis control. Arh Hig Rada Toksikol. 2012;63(1):49–59. https://doi.org/10.2478/10004-1254-63-2012-2134.CrossRefPubMed

40.

Wu YQ, Cheng SY, Xu XC, Li WC. Association between CD14 rs2569190 C>T polymorphism and ischemic stroke susceptibility: a meta-analysis based on 5,277 subjects. Neuropsychiatr Dis Treat. 2019;15:47–55. https://doi.org/10.2147/NDT.S185313.CrossRefPubMed

41.

Xu JJ, Liu KQ, Ying ZM, Zhu XW, Xu XJ, Zhao PP, et al. Effect of CD14 polymorphisms on the risk of cardiovascular disease: evidence from a meta-analysis. Lipids Health Dis. 2019;18(1):74. https://doi.org/10.1186/s12944-019-1018-3.CrossRefPubMedPubMedCentral

42.

Nieto-Fontarigo JJ, Salgado FJ, San-Jose ME, Cruz MJ, Casas-Fernandez A, Gomez-Conde MJ, et al. The CD14 (-159 C/T) SNP is associated with sCD14 levels and allergic asthma, but not with CD14 expression on monocytes. Sci Rep. 2018;8(1):4147. https://doi.org/10.1038/s41598-018-20483-1.CrossRefPubMedPubMedCentral

43.

Vercelli D. Gene-environment interactions in asthma and allergy: the end of the beginning? Curr Opin Allergy Clin Immunol. 2010;10(2):145–8. https://doi.org/10.1097/ACI.0b013e32833653d7.CrossRefPubMedPubMedCentral

44.

Adams JF, Scholvinck EH, Gie RP, Potter PC, Beyers N, Beyers AD. Decline in total serum IgE after treatment for tuberculosis. Lancet. 1999;353(9169):2030–3. https://doi.org/10.1016/S0140-6736(98)08510-9.CrossRefPubMed

45.

Ohrui T, Zayasu K, Sato E, Matsui T, Sekizawa K, Sasaki H. Pulmonary tuberculosis and serum IgE. Clin Exp Immunol. 2000;122(1):13–5. https://doi.org/10.1046/j.1365-2249.2000.01291.x.CrossRefPubMedPubMedCentral

46.

Munthe-Kaas MC, Torjussen TM, Gervin K, Lodrup Carlsen KC, Carlsen KH, Granum B, et al. CD14 polymorphisms and serum CD14 levels through childhood: a role for gene methylation? J Allergy Clin Immunol. 2010;125(6):1361–8. https://doi.org/10.1016/j.jaci.2010.02.010.CrossRefPubMed

47.

Schenk M, Mahapatra S, Le P, Kim HJ, Choi AW, Brennan PJ, et al. Human NOD2 recognizes structurally unique muramyl dipeptides from Mycobacterium leprae. Infect Immun. 2016;84(9):2429–38. https://doi.org/10.1128/IAI.00334-16.CrossRefPubMedPubMedCentral

48.

Toledo Pinto TG, Batista-Silva LR, Medeiros RCA, Lara FA, Moraes MO. Type I interferons, autophagy and host metabolism in leprosy. Front Immunol. 2018;9:806. https://doi.org/10.3389/fimmu.2018.00806.CrossRefPubMedPubMedCentral

49.

Franchi L, Park JH, Shaw MH, Marina-Garcia N, Chen G, Kim YG, et al. Intracellular NOD-like receptors in innate immunity, infection and disease. Cell Microbiol. 2008;10(1):1–8. https://doi.org/10.1111/j.1462-5822.2007.01059.x.CrossRefPubMed

50.

Behr MA, Divangahi M. Freund’s adjuvant, NOD2 and mycobacteria. Curr Opin Microbiol. 2015;23:126–32. https://doi.org/10.1016/j.mib.2014.11.015.CrossRefPubMed

51.

Divangahi M, Mostowy S, Coulombe F, Kozak R, Guillot L, Veyrier F, et al. NOD2-deficient mice have impaired resistance to Mycobacterium tuberculosis infection through defective innate and adaptive immunity. J Immunol. 2008;181(10):7157–65. https://doi.org/10.4049/jimmunol.181.10.7157.CrossRefPubMed

52.

Zhang X, Yuan Z, Ji J, Li H, Xue F. Network or regression-based methods for disease discrimination: a comparison study. BMC Med Res Methodol. 2016;16(1):100. https://doi.org/10.1186/s12874-016-0207-2.CrossRefPubMedPubMedCentral

53.

Lesage S, Zouali H, Cezard JP, Colombel JF, Belaiche J, Almer S, et al. CARD15/NOD2 mutational analysis and genotype-phenotype correlation in 612 patients with inflammatory bowel disease. Am J Hum Genet. 2002;70(4):845–57. https://doi.org/10.1086/339432.CrossRefPubMedPubMedCentral

54.

Bonen DK, Ogura Y, Nicolae DL, Inohara N, Saab L, Tanabe T, et al. Crohn’s disease-associated NOD2 variants share a signaling defect in response to lipopolysaccharide and peptidoglycan. Gastroenterology. 2003;124(1):140–6. https://doi.org/10.1053/gast.2003.50019.CrossRefPubMed

55.

Hugot JP, Chamaillard M, Zouali H, Lesage S, Cezard JP, Belaiche J, et al. Association of NOD2 leucine-rich repeat variants with susceptibility to Crohn’s disease. Nature. 2001;411(6837):599–603. https://doi.org/10.1038/35079107.CrossRefPubMed

56.

Rosenstiel P, Hellmig S, Hampe J, Ott S, Till A, Fischbach W, et al. Influence of polymorphisms in the NOD1/CARD4 and NOD2/CARD15 genes on the clinical outcome of Helicobacter pylori infection. Cell Microbiol. 2006;8(7):1188–98. https://doi.org/10.1111/j.1462-5822.2006.00701.x.CrossRefPubMed

Title: The influence of single nucleotide polymorphisms of NOD2 or CD14 on the risk of Mycobacterium tuberculosis diseases: a systematic review
Authors: Juan M. Cubillos-Angulo
Catarina D. Fernandes
Davi N. Araújo
Cristinna A. Carmo
María B. Arriaga
Bruno B. Andrade
Publication date: 01-12-2021
Publisher: BioMed Central
Keywords: Tuberculosis
Mycobacterium Tuberculosis
Tuberculosis
Published in: Systematic Reviews / Issue 1/2021
Electronic ISSN: 2046-4053
DOI: https://doi.org/10.1186/s13643-021-01729-y

At a glance: The STEP trials

Springer Medicine

The influence of single nucleotide polymorphisms of NOD2 or CD14 on the risk of Mycobacterium tuberculosis diseases: a systematic review

Abstract

Background

Methods

Results

Conclusions

Systematic review registration

At a glance: The STEP trials

Springer Medicine

Abstract

Background

Methods

Results

Conclusions

Systematic review registration

Please log in to get access to this content

Other articles of this Issue 1/2021

Aetiology and outcome of non-traumatic coma in African children: protocol for a systematic review and meta-analysis

Predictors and moderators of outcome of psychotherapeutic interventions for mental disorders in adolescents and young adults: protocol for systematic reviews

Anti-epileptic drug exposure during pregnancy and neonatal birth weight outcomes: protocol for a systematic review and meta-analysis

The prevalence of tuberculosis, malaria and soil-transmitted helminth infection in minority indigenous people of Southeast Asia and the Western Pacific: protocol for a systematic review and meta-analysis

Effectiveness of personal letters to healthcare professionals in changing professional behaviours: a systematic review protocol

Perceived stress, stressors, and coping strategies among nursing students in the Middle East and North Africa: an overview of systematic reviews