Association of single-nucleotide polymorphisms in tumour necrosis factor and human leukocyte antigens genes with type 1 diabetes.


Journal

International journal of immunogenetics
ISSN: 1744-313X
Titre abrégé: Int J Immunogenet
Pays: England
ID NLM: 101232337

Informations de publication

Date de publication:
Aug 2021
Historique:
revised: 03 02 2021
received: 11 01 2020
accepted: 22 02 2021
pubmed: 22 5 2021
medline: 12 10 2021
entrez: 21 5 2021
Statut: ppublish

Résumé

Type 1 diabetes (T1D) is an autoimmune disease characterized by progressive destruction of insulin-producing pancreatic beta cells. This multifactorial disease has a strong genetic component associated with the human leukocyte antigens (HLA) and non-HLA regions. In this study, we compared frequencies of HLA-DRB1 alleles and single-nucleotide polymorphisms (SNPs) associated the genes coding for: toll-like receptors (TLRs), tumour necrosis factor (TNF), interleukin-1 (IL-1), interleukin-1 receptor type 1 (IL-1R1), interleukin-1 receptor antagonist (IL-1RN), interleukin-2 (IL-2) and interleukin-12B (IL-12B), between T1D patients and healthy controls. The aim was to identify frequency differences and linkage between these genetic markers in T1D patients and healthy controls. Twelve SNPs were investigated as follows: rs16944 (IL-1B), rs1143634 (IL-1B), rs1800587 (IL-1A), rs2069762 (IL-2), rs3212227 (IL-12B), rs2234650 (IL-1R1), rs315952 (IL-1RN), rs3804099 (TLR2), rs4986790 (TLR4), rs4986791 (TLR4), rs1800629 (TNF) and rs361525 (TNF). TaqMan genotype assay method was used for SNPs genotyping. HLA-DRB1* genes were typed by Sequence Specific Oligonucleotide Probe (SSOP). SPSS and SNPStats programs were used for the statistical analysis. Significant differences between T1D and control groups were found for the dominant model of rs361525 and rs1800629A:rs361525G genotypes for TNF. Increased frequencies of DRB1*03 and DRB1*04 and decreased frequencies of DRB1*07, DRB1*11 and DRB1*13 and DRB1*15 were observed in T1D patients compared with controls. However, the genotype, DRB1*07 with rs1800629A/G was associated with T1D. We have confirmed that DRB1*03 and DRB1*04 are associated with increased risk and DRB1*07, DRB1*11 and DRB1*13 and DRB1*15 with decreased risk of T1D. Also, the dominant model of rs361525A, and the rs1800629G:361525A genotype were associated with increased risk. The simultaneous presence of DRB1*07 and rs1800629A/G genotypes in 23 out of 27 DRB1*07 positive T1D patients implied that islet cell peptide processing may have been biased towards autoimmunity by upregulation of TNF associated intronic SNPs.

Identifiants

pubmed: 34018329
doi: 10.1111/iji.12535
doi:

Substances chimiques

HLA Antigens 0
Interleukin-1 0
Interleukin-2 0
Toll-Like Receptors 0
Tumor Necrosis Factor-alpha 0
Interleukin-12 187348-17-0

Types de publication

Journal Article

Langues

eng

Sous-ensembles de citation

IM

Pagination

326-335

Subventions

Organisme : King Fahad Medical City
ID : 017-034

Informations de copyright

© 2021 John Wiley & Sons Ltd.

Références

Allam, G., Nasr, A., Talaat, I. M., Abuelsaad, A. S. A., Bakheit, A. M., Nemenqani, D., & Alsulaimani, A. A. (2018). Association between cytokine genes polymorphisms and type 1 diabetes: A case-control study on Saudi population. Immunological Investigations, 47(3), 229-240. https://doi.org/10.1080/08820139.2017.1416398
Boraska, V., Zeggini, E., Groves, C. J., Rayner, N. W., Škrabić, V., Diakite, M., Rockett, K. A., Kwiatkowski, D., McCarthy, M. I., & Zemunik, T. (2009). Family-based analysis of tumor necrosis factor and lymphotoxin-α tag polymorphisms with type 1 diabetes in the population of South Croatia. Human Immunology, 70(3), 195-199. https://doi.org/10.1016/j.humimm.2008.12.010
Brown, J. J., Ollier, W. E. R., Thomson, W., Matthews, J. B., Carter, S. D., Binnis, M., Pinchbeck, G., & Clegg, P. D. (2006). TNF-α SNP haplotype frequencies in equidae. Tissue Antigens, 67(5), 377-382. https://doi.org/10.1111/j.1399-0039.2006.00581.x
Carr, D. E., Dudash, M. R., & Bayliss, M. W. (2003). Recent approaches into the genetic basis of inbreeding depression in plants. Philosophical Transactions of the Royal Society of London. Series B: Biological Sciences, 358(1434), 1071-1084. https://doi.org/10.1098/rstb.2003.1295
Clark, M., Kroger, C. J., & Tisch, R. M. (2017). Type 1 diabetes: A chronic anti-self-inflammatory response. Frontiers in Immunology, 8, 1898. https://doi.org/10.3389/fimmu.2017.01898
Ei Wafai, R. J., Chmaisse, H. N., Makki, R. F., & Fakhoury, H. (2011). Association of HLA class II alleles and CTLA-4 polymorphism with type 1 diabetes. Saudi Journal of Kidney Diseases and Transplantation : an Official Publication of the Saudi Center for Organ Transplantation, Saudi Arabia, 22(2), 273-281.
El-Hazmi, M. A. F., Al-Swailem, A. R., Warsy, A. S., Al-Swailem, A. M., Sulaimani, R., & Al-Meshari, A. A. (1995). Consanguinity among the Saudi Arabian population. Journal of Medical Genetics, 32(8), 623-626. https://doi.org/10.1136/jmg.32.8.623
Eltayeb-Elsheikh, N., Khalil, E., Mubasher, M., AlJurayyan, A., AlHarthi, H., Omer, W. H., Elghazali, I., Sherbeeni, S. M., Alghofely, M. A., Ilonen, J., & Elghazali, G. (2020). Association of HLA-DR-DQ alleles, haplotypes, and diplotypes with type 1 diabetes in Saudis. Diabetes/Metabolism Research and Reviews, 36(8), e3345. https://doi.org/10.1002/dmrr.3345
Garnier-Géré, P., & Chikhi, L. (2013). Population subdivision, Hardy-Weinberg equilibrium and the Wahlund effect. In eLS. https://doi.org/10.1002/9780470015902.a0005446.pub3
Hollegaard, M. V., & Bidwell, J. L. (2006). Cytokine gene polymorphism in human disease: On-line databases, Supplement 3. Genes and Immunity, 7(4), 269-276. https://doi.org/10.1038/sj.gene.6364301
Jaen, O., Petit-Teixeira, E., Kirsten, H., Ahnert, P., Semerano, L., Pierlot, C., Cornelis, F., Boissier, M. C., Falgarone, G., & European Consortium on Rheumatoid Arthritis Families (2009). No evidence of major effects in several Toll-like receptor gene polymorphisms in rheumatoid arthritis. Arthritis Research and Therapy, 11(1), R5.
Javor, J., Ferencik, S., Bucova, M., Stuchlikova, M., Martinka, E., Barak, L., Strbova, L., Grosse-Wilde, H., & Buc, M. (2010). Polymorphisms in the genes encoding TGF-β1, TNF-α, and IL-6 show association with type 1 diabetes mellitus in the Slovak population. Archivum Immunologiae et Therapiae Experimentalis, 58(5), 385-393. https://doi.org/10.1007/s00005-010-0092-z
Kaidonis, G., Craig, J. E., Gillies, M. C., Abhary, S., Essex, R. W., Chang, J. H., Pal, B., Pefkianaki, M., Daniell, M., Lake, S., Petrovsky, N., & Burdon, K. P. (2016). Promoter polymorphism at the tumour necrosis factor/lymphotoxin-alpha locus is associated with type of diabetes but not with susceptibility to sight-threatening diabetic retinopathy. Diabetes and Vascular Disease Research, 13(2), 164-167. https://doi.org/10.1177/1479164115616902
Kaprio, J., Tuomilehto, J., Koskenvuo, M., Romanov, K., Reunanen, A., Eriksson, J., Stengård, J., & Kesäniemi, Y. A. (1992). Concordance for Type 1 (insulin-dependent) and Type 2 (non-insulin-dependent) diabetes mellitus in a population-based cohort of twins in Finland. Diabetologia, 35(11), 1060-1067. https://doi.org/10.1007/BF02221682
Kawai, T., & Akira, S. (2010). The role of pattern-recognition receptors in innate immunity: Update on toll-like receptors. Nature Immunology, 11(5), 373-384. https://doi.org/10.1038/ni.1863
Kim, Y. G., Ihm, C. G., Lee, T. W., Lee, S. H., Jeong, K. H., Moon, J. Y., Chung, J. H., Kim, S. K., & Kim, Y. H. (2012). Association of genetic polymorphisms of interleukins with new-onset diabetes after transplantation in renal transplantation. Transplantation, 93(9), 900-907.
Kroeger, K. M., Carville, K. S., & Abraham, L. J. (1997). The -308 tumor necrosis factor-α promoter polymorphism effects transcription. Molecular Immunology, 34(5), 391-399. https://doi.org/10.1016/S0161-5890(97)00052-7
Lien, E., & Zipris, D. (2009). The role of Toll-like receptor pathways in the mechanism of type 1 diabetes. Current Molecular Medicine, 9(1), 52-68. https://doi.org/10.2174/156652409787314453
Mahmoudi, M., Amirzargar, A. A., Jamshidi, A. R., Farhadi, E., Noori, S., Avraee, M., Nazari, B., & Nicknam, M. H. (2011). Association of IL1R polymorphism with HLA-B27 positive in Iranian patients with ankylosing spondylitis. European Cytokine Network, 22(4), 175-180.
Mandrup-Poulsen, T., Pociot, F., Mølvig, J., Shapiro, L., Nilsson, P., Emdal, T., Roder, M., Kjems, L. L., Dinarello, C. A., & Nerup, J. (1994). Monokine antagonism is reduced in patients with IDDM. Diabetes, 43(10), 1242-1247. https://doi.org/10.2337/diab.43.10.1242
Mira, J. P., Cariou, A., Grall, F., Delclaux, C., Losser, M. R., Heshmati, F., Cheval, C., Monchi, M., Teboul, J. L., Riché, F., Leleu, G., Arbibe, L., Mignon, A., Delpech, M., & Dhainaut, J. F. (1999). Association of TNF2, a TNF-α promoter polymorphism, with septic shock susceptibility and mortality: A multicenter study. Journal of the American Medical Association, 282(6), 561. https://doi.org/10.1001/jama.282.6.561
Mogensen, T. H. (2009). Pathogen recognition and inflammatory signaling in innate immune defenses. Clinical Microbiology Reviews, 22(2), 240-273. https://doi.org/10.1128/CMR.00046-08
Monos, D. S., Kamoun, M., Udalova, I. A., Csanky, E., Cizman, B., Turetskaya, R. L., Smirnova, J. B., Zharkov, V. G., Gasser, D., Zmijewski, C. M., Spielman, R. S., & Nedospasov, S. A. (1995). Genetic polymorphism of the human tumor necrosis factor region in insulin-dependent diabetes mellitus linkage disequilibrium of TNFab microsatellite alleles with HLA haplotypes. Human Immunology, 44(2), 70-79. https://doi.org/10.1016/0198-8859(95)00060-H
Morahan, G., McKinnon, E., Berry, J., Browning, B., Julier, C., Pociot, F., James, I., & Type I Diabetes Genetics Consortium (2009). Evaluation of IL12B as a candidate type I diabetes susceptibility gene using data from the Type I Diabetes Genetics Consortium. Genes and Immunity, 10 Suppl 1(Suppl 1), S64-S68.
Nedwin, G. E., Naylor, S. L., Sakaguchi, A. Y., Smith, D., Jarrett-Nedwin, J., Pennica, D., Goeddel, D. V., & Gray, P. W. (1985). Human lymphotoxin and tumor necrosis factor genes: Structure, homology and chromosomal localization. Nucleic Acids Research, 13(17), 6361-6373. https://doi.org/10.1093/nar/13.17.6361
New Oxford American Dictionary. (2013). Choice reviews online. https://doi.org/10.5860/choice.48-3013
Noble, J. A., & Erlich, H. A. (2012). Genetics of type 1 diabetes. Cold Spring Harbor Perspectives in Medicine, 2(1), a007732. https://doi.org/10.1101/cshperspect.a007732
Noble, J. A., & Valdes, A. M. (2011). Genetics of the HLA region in the prediction of type 1 diabetes. Current Diabetes Reports, 11(6), 533-542. https://doi.org/10.1007/s11892-011-0223-x
Noble, J. A., Valdes, A. M., Lane, J. A., Green, A. E., & Elrich, H. A. (2006). Linkage disequilibrium with predisposing DR3 haplotypes accounts for apparent effects of tumor necrosis factor and lymphotoxin-α polymorphisms on type 1 diabetes susceptibility. Human Immunology, 67(12), 999-1004.
Ovsyannikova, I. G., Pankratz, V. S., Salk, H. M., Kennedy, R. B., & Poland, G. A. (2014). HLA alleles associated with the adaptive immune response to smallpox vaccine: A replication study. Human Genetics, 133(9), 1083-1092. https://doi.org/10.1007/s00439-014-1449-x
Purcell, A. W., Croft, N. P., & Tscharke, D. C. (2016). Immunology by numbers: Quantitation of antigen presentation completes the quantitative milieu of systems immunology! Current Opinion in Immunology, 40, 88-95. https://doi.org/10.1016/j.coi.2016.03.007
Qiao, Y. C., Chen, Y. L., Pan, Y. H., Tian, F., Xu, Y., Zhang, X., & Zhao, H. L. (2017). The change of serum tumor necrosis factor alpha in patients with type 1 diabetes mellitus: A systematic review and meta-analysis. PLoS One, 12(4), e0176157. https://doi.org/10.1371/journal.pone.0176157
Qidwai, T., & Khan, F. (2011). Tumour necrosis factor gene polymorphism and disease prevalence. Scandinavian Journal of Immunology, 74(6), 522-547. https://doi.org/10.1111/j.1365-3083.2011.02602.x
Redondo, M. J., Jeffrey, J., Fain, P. R., Eisenbarth, G. S., & Orban, T. (2008). Concordance for Islet autoimmunity among monozygotic twins. New England Journal of Medicine, 359(26), 2849-2850. https://doi.org/10.1056/nejmc0805398
Risch, N. (1987). Assessing the role of HLA-linked and unlinked determinants of disease. American Journal of Human Genetics, 40(1), 1-14.
Rodriguez, S., Gaunt, T. R., & Day, I. N. M. (2009). Hardy-Weinberg equilibrium testing of biological ascertainment for Mendelian randomization studies. American Journal of Epidemiology, 169(4), 505-514. https://doi.org/10.1093/aje/kwn359
Rudofsky, G. Jr, Reismann, P., Witte, S., Humpert, P. M., Isermann, B., Chavakis, T., Tafel, J., Nosikov, V. V., Hamann, A., Nawroth, P., & Bierhaus, A. (2004). Asp299Gly and Thr399Ile genotypes of the TLR4 gene are associated with a reduced prevalence of diabetic neuropathy in patients with type 2 diabetes. Diabetes Care, 27(1), 179-183.
Standards of Medical Care In Diabetes. (2019). 2. Classification and diagnosis of diabetes: Standards of medical care in diabetes 2019. Diabetes Care, 42(Suppl 1), S13-S28. https://doi.org/10.2337/dc19-S002
Stayoussef, M., Al-Jenaidi, F. A., Al-Abbasi, A., Al-Ola, K., Khayyat, H., Mahjoub, T., & Almawi, W. Y. (2008). Modulation of type 1 diabetes susceptibility by tumor necrosis factor alpha -308 G/A and lymphotoxin alpha +249 A/G haplotypes and lack of linkage disequilibrium with predisposing DQB1-DRB1 haplotypes in bahraini patients. Clinical and Vaccine Immunology, 15(2), 379-381. https://doi.org/10.1128/CVI.00410-07
Sun, C., Zhi, D., Shen, S., Luo, F., & Sanjeevi, C. B. (2014). SNPs in the exons of Toll-like receptors are associated with susceptibility to type 1 diabetes in Chinese population. Human Immunology, 75(11), 1084-1088. https://doi.org/10.1016/j.humimm.2014.09.008
Thomas, H. E., Graham, K. L., Chee, J., Thomas, R., Kay, T. W., & Krishnamurthy, B. (2013). Proinflammatory cytokines contribute to development and function of regulatory T cells in type 1 diabetes. Annals of the New York Academy of Sciences, 1283(1), 81-86. https://doi.org/10.1111/j.1749-6632.2012.06797.x
Törn, C., Hadley, D., Lee, H. S., Hagopian, W., Lernmark, Å., Simell, O., Rewers, M., Ziegler, A., Schatz, D., Akolkar, B., Onengut-Gumuscu, S., Chen, W. M., Toppari, J., Mykkänen, J., Ilonen, J., Rich, S. S., She, J. X., Steck, A. K., & Krischer, J. (2015).Role of type 1 diabetes- Associated SNPs on risk of autoantibody positivity in the TEDDY study. Diabetes, 64(5), 1818-1829. https://doi.org/10.2337/db14-1497
Törn, C., Hillman, M., Sanjeevi, C. B., & Landin-Olsson, M. (2006). Polymorphisms of TNF microsatellite marker a and HLA-DR-DQ in diabetes mellitus-a study in 609 Swedish subjects. Human Immunology, 67(7), 527-534. https://doi.org/10.1016/j.humimm.2006.04.002
Van Belle, T. L., Coppieters, K. T., & Von Herrath, M. G. (2011). Type 1 diabetes: Etiology, immunology, and therapeutic strategies. Physiological Reviews, 91(1), 79-118. https://doi.org/10.1152/physrev.00003.2010
Xie, Z., Huang, G., Wang, Z., Luo, S., Zheng, P., & Zhou, Z. (2018). Epigenetic regulation of Toll-like receptors and its roles in type 1 diabetes. Journal of Molecular Medicine, 96(8), 741-751. https://doi.org/10.1007/s00109-018-1660-7

Auteurs

Awad Elsid Osman (AE)

Pathology and Clinical Laboratory Management Department, King Fahad Medical City, Riyadh, Saudi Arabia.

Imad Brema (I)

Obesity, Endocrine and Metabolism Center, King Fahad Medical City, Riyadh, Saudi Arabia.

Alaa AlQurashi (A)

Research Center, King Fahad Medical City, Riyadh, Saudi Arabia.

Abdullah Al-Jurayyan (A)

Pathology and Clinical Laboratory Management Department, King Fahad Medical City, Riyadh, Saudi Arabia.

Benjamin Bradley (B)

National Centre for Biomedical Engineering Science, National University of Ireland, Galway, Ireland.

Muaawia Ahmed Hamza (MA)

Research Center, King Fahad Medical City, Riyadh, Saudi Arabia.

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