Significant association between TaqI and FokI VDR gene polymorphisms and chronic spontaneous urticaria in a Colombian Caribbean population
Main Article Content
Keywords
Schronic spontaneous urticaria, gene, polymorphisms, urticaria, vitamin D receptor
Abstract
Introduction: Chronic spontaneous urticaria (CSU) is an inflammatory skin disease related to poor quality of life. Previous studies have found that vitamin D deficiency and vitamin D receptor (VDR) TaqI, BsmI, FokI, and ApaI gene single-nucleotide polymorphisms (SNPs) influence immune response and susceptibility to skin disorders.
Aim: To explore the role of VDR SNPs, and the association of vitamin D serum levels in a sample of Colombian Caribbean CSU patients. Methods: It is a case-control study. A group of CSU patients (n = 100) was compared with healthy individuals as a control group (n = 100). VDR polymorphisms were genotyped by quantitative polymerase chain reaction and Taqman® probes. Allelic, genotypic, and haplotype associations were estimated. Serum vitamin D levels were measured using enzyme-linked-immunosorbent serologic assay.
Results: Compared to the control group, the presence of G allele in TaqI and A allele in FokI SNPs of VDR gene was found to be a risk factor for CSU (odds ratio (OR) estimated using logistic regression adjusted by gender: 2.08 and 1.61, respectively, all P values < 0.05). The individuals who carry GCCA haplotype showed decrease in vitamin D levels (11.34 ng/mL; P = 0.002) with the G allele of TaqI and A allele of FokI gene SNPs.
Conclusion: We reported for the first time the association of TaqI [rs731236] and FokI [rs2228570] VDR gene SNPs showing as a risk factor for CSU in a sample of multiethnic patients from the Colombian Caribbean population.
References
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26. Nasiri-Kalmarzi R, Abdi M, Hosseini J, Babaei E, Mokarizadeh A, Vahabzadeh Z. Evaluation of 1,25-dihydroxyvitamin D3 pathway in patients with chronic urticaria. Qjm. 2018;111(3):161–9. 10.1111/j.1365-2133.2010.09892.x
27. Chandrashekar L, Rajappa M, Munisamy M, Ananthanarayanan PH, Thappa DM, Arumugam B. 25-Hydroxy vitamin D levels in chronic urticaria and its correlation with disease severity from a tertiary care centre in South India. Clin Chem Lab Med [Internet]. 2014 Jun;52(6):e115-8. 10.1093/qjmed/hcx223
28. Abdel-Rehim ASM, Sheha DS, Mohamed NA. Vitamin D level among Egyptian patients with chronic spontaneous urticaria and its relation to severity of the disease. Egypt J Immunol [Internet]. 2014;21(2):85–90. 10.1515/cclm-2013-1014
29. Tsai TY, Huang YC. Vitamin D deficiency in patients with chronic and acute urticaria: A systematic review and meta-analysis. J Am Acad Dermatol [Internet]. 2018 Sep;79(3):573–5. Available from: 10.1016/j.jaad.2018.02.033
30. Wang X, Li X, Shen Y, Wang X. The association between serum vitamin D levels and urticaria: a meta-analysis of observational studies. G Ital Dermatol Venereol [Internet]. 2018 Jun;153(3):389–95. 10.1016/j.jaad.2018.02.033
31. Sandoval C, De la Hoz A, Yunis E. Estructura Genetica de la Poblacion Colombiana. Rev Fac Med. 1993;41(1):3–14.
32. Wade P, Beltrán CL, Restrepo E, Santos RV, editors. Mestizo Genomics [Internet]. Duke University Press; 2014. Available from: http://www.jstor.org/stable/10.2307/j.ctv11cw9tx
33. Han JC, Du J, Zhang YJ, Qi GB, Li HB, Zhang YJ, et al. Vitamin D receptor polymorphisms may contribute to asthma risk. J Asthma [Internet]. 2016 Oct 13;53(8):790–800. 10.3109/02770903.2016.1158267
2. Zuberbier T, Aberer W, Asero R, Abdul Latiff AH, Baker D, Ballmer-Weber B, et al. The EAACI/GA2LEN/EDF/WAO guideline for the definition, classification, diagnosis and management of urticaria. Allergy [Internet]. 2018 Jul;73(7):1393–414. 10.1111/all.13397
3. Saini SS, Kaplan AP. Chronic Spontaneous Urticaria: The Devil’s Itch. J allergy Clin Immunol Pract [Internet]. 2017;6(4):1097–106. 10.1016/j.jaip.2018.04.013
4. Lee SJ, Ha EK, Jee HM, Lee KS, Lee SW, Kim MA, et al. Prevalence and risk factors of urticaria with a focus on chronic urticaria in children. Allergy, Asthma Immunol Res. 2017;9(3):212–9. 10.4168/aair.2017.9.3.212
5. Zabolinejad N, Molkara S, Bakhshodeh B, Ghaffari-Nazari H, Khoshkhui M. The expression of serotonin transporter protein in the skin of patients with chronic spontaneous urticaria and its relation with depression and anxiety. Arch Dermatol Res [Internet]. 2019 Dec;311(10):825–31. 10.1007/s00403-019-01969-y
6. Bracken SJ, Abraham S, MacLeod AS. Autoimmune theories of chronic spontaneous urticaria. Front Immunol. 2019;10(MAR):1–10. 10.3389/fimmu.2019.00627
7. Quirk SK, Rainwater E, Shure AK, Agrawal DK. Vitamin D in atopic dermatitis, chronic urticaria and allergic contact dermatitis. Expert Rev Clin Immunol. 2016;12(8):839–47. 10.1586/1744666X.2016.1171143
8. Pike JW, Christakos S. Biology and Mechanisms of Action of the Vitamin D Hormone. Endocrinol Metab Clin North Am [Internet]. 2017;46(4):815–43. 10.1016/j.ecl.2017.07.001
9. Vanherwegen AS, Gysemans C, Mathieu C. Regulation of Immune Function by Vitamin D and Its Use in Diseases of Immunity. Endocrinol Metab Clin North Am [Internet]. 2017;46(4):1061–94. 10.1016/j.ecl.2017.07.010
10. Shoenfeld Y, Giacomelli R, Azrielant S, Berardicurti O, Reynolds JA, Bruce IN. Vitamin D and systemic lupus erythematosus-The hype and the hope. Autoimmun Rev [Internet]. 2018 Jan;17(1):19–23. 10.1016/j.autrev.2017.11.004
11. Baroni E, Biffi M, Benigni F, Monno A, Carlucci D, Carmeliet G, et al. VDR-dependent regulation of mast cell maturation mediated by 1,25-dihydroxyvitamin D3. J Leukoc Biol [Internet]. 2007 Jan;81(1):250–62. 10.1189/jlb.0506322
12. Yu C, Fedoric B, Anderson PH, Lopez AF, Grimbaldeston MA. Vitamin D(3) signalling to mast cells: A new regulatory axis. Int J Biochem Cell Biol [Internet]. 2011 Jan;43(1):41–6. 10.1016/j.biocel.2010.10.011
13. Kongsbak M, von Essen MR, Levring TB, Schjerling P, Woetmann A, Ødum N, et al. Vitamin D-binding protein controls T cell responses to vitamin D. BMC Immunol [Internet]. 2014 Sep 18;15:35. 10.1186/s12865-014-0035-2
14. Kılıç S, Sılan F, Hız M, Işık S, Ögretmen Z, Özdemir Ö. Vitamin D Receptor Gene BSMI, FOKI, APAI, and TAQI Polymorphisms and the Risk of Atopic Dermatitis. J Investig Allergol Clin Immunol [Internet]. 2016 Apr 1;26(2):106–10. 10.18176/jiaci.0020
15. Infante M, Ricordi C, Sanchez J, Clare-Salzler MJ, Padilla N, Fuenmayor V, et al. Influence of Vitamin D on Islet Autoimmunity and Beta-Cell Function in Type 1 Diabetes. Nutrients [Internet]. 2019 Sep 11;11(9). 10.3390/nu11092185
16. Gnagnarella P, Raimondi S, Aristarco V, Johansson HA, Bellerba F, Corso F, et al. Vitamin D Receptor Polymorphisms and Cancer. Adv Exp Med Biol [Internet]. 2020;1268:53–114. 10.1007/978-3-030-46227-7_4
17. Bagheri-Hosseinabadi Z, Imani D, Yousefi H, Abbasifard M. Vitamin D receptor (VDR) gene polymorphism and risk of rheumatoid arthritis (RA): systematic review and meta-analysis. Clin Rheumatol [Internet]. 2020 Dec;39(12):3555–69. 10.1007/s10067-020-05143-y
18. Khoshkhui M, Iravani F, Jabbari-Azad F, Zare Marzouni H, Tavakkol-Afshari J, Zamani H, et al. Significant association between Taq1 gene polymorphism in vitamin D receptor and chronic spontaneous urticaria in the Northeast of Iran. Clin Mol Allergy [Internet]. 2021;19(1):1–7. 10.1186/s12948-021-00145-w
19. Ma Y, Xiang Z, Yao X, Li C, Wu J, Feng S, et al. Associations between vitamin D receptor gene polymorphisms and chronic spontaneous urticaria in Chinese Han population. Postep Dermatologii i Alergol. 2020;37(2):250–4. 10.5114/ada.2020.94843
20. Ross AC, Manson JE, Abrams SA, Aloia JF, Brannon PM, Clinton SK, et al. The 2011 report on dietary reference intakes for calcium and vitamin D from the Institute of Medicine: what clinicians need to know. J Clin Endocrinol Metab [Internet]. 2011 Jan;96(1):53–8. 10.1210/jc.2010-2704
21. Kolkhir P, Church MK, Weller K, Metz M, Schmetzer O, Maurer M. Autoimmune chronic spontaneous urticaria: What we know and what we do not know. J Allergy Clin Immunol [Internet]. 2017 Jun;139(6):1772-1781.e1. 10.1016/j.jaci.2016.08.050
22. Sharif MN, Campanholle G, Nagiec EE, Wang J, Syed J, O’Neil SP, et al. Soluble Fn14 Is Detected and Elevated in Mouse and Human Kidney Disease. Crispin J, editor. PLoS One. 2016 May;11(5):e0155368. 10.1371/journal.pone.0155368
23. Rewers M, Ludvigsson J. Environmental risk factors for type 1 diabetes. Lancet (London, England). 2016 Jun 387(10035):2340–8. 10.1016/S0140-6736(16)30507-4
24. Weng X, Li X, Shen Y, Wang X. The association between serum Vitamin D levels and urticaria: A meta-analysis of observational studies. G Ital di Dermatologia e Venereol. 2018;153(3):389–95.
25. Hata TR, Kotol P, Boguniewicz M, Taylor P, Paik A, Jackson M, et al. History of eczema herpeticum is associated with the inability to induce human β-defensin (HBD)-2, HBD-3 and cathelicidin in the skin of patients with atopic dermatitis. Br J Dermatol [Internet]. 2010 Sep;163(3):659–61. 10.23736/S0392-0488.17.05774-1
26. Nasiri-Kalmarzi R, Abdi M, Hosseini J, Babaei E, Mokarizadeh A, Vahabzadeh Z. Evaluation of 1,25-dihydroxyvitamin D3 pathway in patients with chronic urticaria. Qjm. 2018;111(3):161–9. 10.1111/j.1365-2133.2010.09892.x
27. Chandrashekar L, Rajappa M, Munisamy M, Ananthanarayanan PH, Thappa DM, Arumugam B. 25-Hydroxy vitamin D levels in chronic urticaria and its correlation with disease severity from a tertiary care centre in South India. Clin Chem Lab Med [Internet]. 2014 Jun;52(6):e115-8. 10.1093/qjmed/hcx223
28. Abdel-Rehim ASM, Sheha DS, Mohamed NA. Vitamin D level among Egyptian patients with chronic spontaneous urticaria and its relation to severity of the disease. Egypt J Immunol [Internet]. 2014;21(2):85–90. 10.1515/cclm-2013-1014
29. Tsai TY, Huang YC. Vitamin D deficiency in patients with chronic and acute urticaria: A systematic review and meta-analysis. J Am Acad Dermatol [Internet]. 2018 Sep;79(3):573–5. Available from: 10.1016/j.jaad.2018.02.033
30. Wang X, Li X, Shen Y, Wang X. The association between serum vitamin D levels and urticaria: a meta-analysis of observational studies. G Ital Dermatol Venereol [Internet]. 2018 Jun;153(3):389–95. 10.1016/j.jaad.2018.02.033
31. Sandoval C, De la Hoz A, Yunis E. Estructura Genetica de la Poblacion Colombiana. Rev Fac Med. 1993;41(1):3–14.
32. Wade P, Beltrán CL, Restrepo E, Santos RV, editors. Mestizo Genomics [Internet]. Duke University Press; 2014. Available from: http://www.jstor.org/stable/10.2307/j.ctv11cw9tx
33. Han JC, Du J, Zhang YJ, Qi GB, Li HB, Zhang YJ, et al. Vitamin D receptor polymorphisms may contribute to asthma risk. J Asthma [Internet]. 2016 Oct 13;53(8):790–800. 10.3109/02770903.2016.1158267
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