Vitamin D Receptor Gene Polymorphisms FokI rs2228570, ApaI rs797523, and TaqI rs731236 in Multibacillary Leprosy Patients

Authors

  • Ramona Dumasari Lubis Department of Dermatology and Venereology, Faculty of Medicine, Universitas Sumatera Utara, Medan, Indonesia
  • Irma D. Roesyanto-Mahadi Department of Dermatology and Venereology, Faculty of Medicine, Universitas Sumatera Utara General, Medan, Indonesia
  • Yahwardiah Siregar Department of Biochemistry, Faculty of Medicine, Universitas Sumatera Utara, Medan, Indonesia
  • Putri Chairani Eyanoer Department of Community and Preventive Medicine, Faculty of Medicine, Universitas Sumatera Utara, Medan, Indonesia

DOI:

https://doi.org/10.3889/oamjms.2021.5457

Keywords:

vitamin d receptor, gene polymorphism, leprosy, frequency distribution

Abstract

AIM:: Knowing distribution frequency of genotype and allele Vitamin D receptor (VDR) gene polymorphism FokI rs2228570, ApaI rs797523, and TaqI rs731236 in leprosy patients.

METHODS: This is an observational research that was done in Leprosy Division, Department of Dermatology and Venereology, Haji Adam Malik General Hospital, Dr. Pirngadi General Hospital in Medan, and other primary healthcare facilities in North Sumatera. The research subjects underwent an interview process, physical examination and blood collection to detect VDR gene polymorphism FokI rs2228570, ApaI rs797523, and TaqI rs731236. The data were then tabulated and analyzed, also calculated using Hardy-Weinberg equilibrium.

RESULTS: This study involved 52 leprosy patients, with most of them aged between 35 and 44 years (38.5%), male (61.5%) more than female (38.5%). The research subjects have VDR gene polymorphisms FokI rs2228570 with genotype FF (42.3%) with F allele (59.6%), ApaI rs797523 genotype AA (46.1%) with A allele (65.4%) and TaqI rs731236 genotype TT (86.5%) with T allele (93.3%).

CONCLUSION: Most of the leprosy patients have genotype FF with F allele, genotype AA with A allele and TT with T allele. Further research can be done to assess the relationship between the VDR gene polymorphism and leprosy risk.

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References

Cole ST, Singh P. History and phylogeography of leprosy. In: Nunzi E, Massone C, editors. Leprosy: A Practical Guide. Italia: Springer; 2012. p. 3-13.

Talhari C, Talhari S, Penna GO. Clinical aspects of leprosy. Clin Dermatol. 2015;33(1):26-37. https://doi.org/10.1016/j.clindermatol.2014.07.002 PMid:25432808

Joshi PL. Epidemiology of leprosy. In: Kumar B, Kar HK, editors. IAL Textbook of Leprosy. 2nd ed. New Delhi: Jaypee Brothers Medical Publishers Private Ltd.; 2016. p. 33-44. https://doi.org/10.5005/jp/books/12958_3

Astriningrum R, Triestianawati W, Menaldi SW. Quality of life of leprosy patient. MDVI. 2013;40(1):28-34.

Zhang F, Chen S, Sun Y, Chu T. Healthcare seeking behaviour and delay in diagnosis of leprosy in a low endemic area of China. Lepr Rev. 2009;80(4):416-23. https://doi.org/10.47276/lr.80.4.416 PMid:20306640

Kementerian Kesehatan Republik Indonesia. Infodatin Hapuskan Stigma dan Diskriminasi Terhadap Kusta. Jakarta: Kementerian Kesehatan Republik Indonesia; 2018. https://doi.org/10.31002/rep.v5i1.2050

World Health Organization. Global Leprosy Strategy 2016- 2020: Accelerating Towards a Leprosy-Free World. Geneva: World Health Organization; 2016.

Goulart LR, Ferreira FR, Goulart IM. Interaction of TaqI polymorphism at exon 9 of the vitamin D receptor gene with the negative lepromin response may favor the occurrence of leprosy. FEMS Immunol Med Microbiol. 2006;48(1):91-8. https://doi.org/10.1111/j.1574-695x.2006.00128.x PMid:16965356

Smith WC, Aerts A. Role of contact tracing and prevention strategies in the interruption of leprosy transmission. Lepr Rev. 2014;85(1):2-17. https://doi.org/10.47276/lr.85.1.2 PMid:24974438

Agusni I. Imunopathologic manifestation of subclinical leprosy. MDVI. 2002;29(1):9-13.

Nurkasanah S, Wahyuni CU, Wibowo A. Faktor yang AQ3 berpengaruh terhadap kenaikan titer antibodi spesifik kusta. J Berk Epidemiol. 2013;1(2):213-23.

Bratschi MW, Steinmann P, Wickenden A, Gillis TP. Current knowledge on Mycobacterium leprae transmission: A systematic literature review. Lepr Rev. 2015;86(2):142-55. https://doi.org/10.47276/lr.86.2.142 PMid:26502685

Jo EK, Shin DM, Modlin RL. Vitamin D and human innate immunity. In: Gombart AF, editor. Vitamin D: Oxidative Stress, Immunity, and Aging. New York: CRC Press; 2013. p. 223-33. https://doi.org/10.1201/b13714-14

Adams JS, Hewison M. Update in vitamin D. J Clin Endocrinol Metab. 2010;95(2):471-8. PMid:20133466

Hewison M. Vitamin D and immune function: From pregnancy to adolescence. In: Proceeding 70th Anniversary Conference on ‘Vitamins in Early Development and Healthy Aging: Impact on Infectious and Chronic Disease’. Vol. 71. Republic of Ireland: The Nutrition Society; 2012. p. 50-61.

Chun RF, Liu PT, Modlin RL, Adams JS, Hewison M. Impact of vitamin D on immune function: Lessons learned from genome-wide analysis. Front Physiol. 2014;5:151. https://doi.org/10.3389/fphys.2014.00151 PMid:24795646

Kościuczuk EM, Lisowski P, Jarczak J, Strzałkowska N, Jóźwik A, Horbańczuk J, et al. Cathelicidins: Family of antimicrobial peptides. A review. Mol Biol Rep. 2012;39(12):10957-70. https://doi.org/10.1007/s11033-012-1997-x PMid:23065264

Luʼoʼng KV, Nguyên LT. Role of the vitamin D in leprosy. Am J Med Sci. 2012;343(6):471-7. PMid:22170299

Neela VS, Suryadevara NC, Shinde VG, Pydi SS, Jain S, Singh SS, et al. Association of Taq I, Fok I and Apa I polymorphisms in vitamin D receptor (VDR) gene with leprosy. Hum Immunol. 2015;76(6):402-5. https://doi.org/10.1016/j.humimm.2015.04.002 PMid:25890006

Roy S, Frodsham A, Saha B, Hazra SK, Taylor CG, Hill AV. Association of vitamin D receptor genotype with leprosy type. J Infect Dis. 1999;179(1):187-91. https://doi.org/10.1086/314536 PMid:9841838

Felix JS, Salazar SG, Velazquez CV, Maldonado JG, Villalobos HR. Association between the Taq1 polymorphism of Vitamin D receptor gene and lepromatous leprosy in a Mexican population sample. Salud Publica Mex. 2009;51(1):59-61

Fitness J, Floyd S, Warndorff DK, Sichali L, Mwaungulu L, Crampin AC, et al. Large-scale candidate gene study of leprosy susceptibility in the Karonga District of Northern Malawi. Am J Trop Med Hyg. 2004;71(3):330-40. https://doi.org/10.4269/ajtmh.2004.71.330 PMid:15381816

Castelo-Branco C, Soveral I. The immune system and aging: A review. Gynecol Endocrinol. 2014;30(1):16-22. PMid:24219599

Simon AK, Hollander GA, McMichael A. Evolution of the immune system in humans from infancy to old age. Proc Biol Sci. 2015;282(1821):20143085. https://doi.org/10.1098/rspb.2014.3085 PMid:26702035

Bakker MJ, Hatta M, Kwenang A, Mosseveld PV, Faber WR, Klatser PR, et al. Risk factors for developing leprosy--a population-based cohort study in Indonesia. Lepr Rev. 2006;77(1):48-61. https://doi.org/10.47276/lr.77.1.48 PMid:16715690

Moet FJ, Pahan D, Schuring RP, Oskam L, Richardus JH. Physical distance, genetic relationship, age, and leprosy classification are independent risk factors for leprosy in contacts of patients with leprosy. J Infect Dis. 2006;193(3):346-53. https://doi.org/10.1086/499278 PMid:16388481

Moet FJ, Meima A, Oskam L, Richardus JH. Risk factors for the development of clinical leprosy among contacts, and their relevance for targeted interventions. Lepr Rev. 2004;75(4):310-26. https://doi.org/10.47276/lr.75.4.310 PMid:15682969

Sarkar R, Pradhan S. Leprosy and women. Int J Womens Dermatol. 2016;2(4):117-21. PMid:28492023

Gil A, Plaza-Diaz J, Mesa MD. Vitamin D: Classic and novel actions. Ann Nutr Metab. 2018;72(2):87-95. https://doi.org/10.1159/000486536 PMid:29346788

Uitterlinden AG, Fang Y, Meurs JB, Pols HA, Leeuwen JP. Genetics and biology of vitamin D receptor polymorphisms. Gene. 2004;338(2):143-56. https://doi.org/10.1016/j.gene.2004.05.014 PMid:15315818

Valdivielso JM, Fernandez E. Vitamin D receptor polymorphisms and diseases. Clin Chim Acta. 2006;371(1-2):1-12. PMid:16563362

Van Etten E, Verlinden L, Giulietti A, Ramos-Lopez E, Branisteanu DD, Ferreira GB, et al. The vitamin D receptor gene FokI polymorphism: Functional impact on the immune system. Eur J Immunol. 2007;37:395-405. https://doi.org/10.1002/ eji.200636043

PMid:17274004

Poon AH, Gong L, Brasch-Andersen C, Litonjua AA, Raby BA, Hamid Q, et al. Very important pharmacogene summary for VDR. Pharmacogenet Genomics. 2012;22(10):758-63. https:// doi.org/10.1097/fpc.0b013e328354455c

PMid:22588316

Mazini PS, Alves HV, Reis PG, Lopes AP, Sell AM, Santos-Rosa M, et al. Gene association with leprosy: A review of published data. Front Immunol. 2016;6:658. https://doi.org/10.3389/fimmu.2015.00658 PMid:26793196

Singh I, Lavania M, Pathak VK, Ahuja M, Turankar RP, Singh V, et al. VDR polymorphism, gene expression and vitamin D levels in leprosy patients from North Indian population. PLoS Negl Trop Dis. 2018;12(11):e0006823. https://doi.org/10.1371/ journal.pntd.0006823

PMid:30481178

Sapkota BR, Macdonald M, Berrington WR, Misch EA, Ranjit C, Siddiqui MR, et al. Association of TNF, MBL, and VDR polymorphisms with leprosy phenotypes. Hum Immunol. 2010;71(10):992-8. https://doi.org/10.1016/j. humimm.2010.07.001

PMid:20650301

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Published

2021-04-14

How to Cite

1.
Lubis RD, Roesyanto-Mahadi ID, Siregar Y, Eyanoer PC. Vitamin D Receptor Gene Polymorphisms FokI rs2228570, ApaI rs797523, and TaqI rs731236 in Multibacillary Leprosy Patients. Open Access Maced J Med Sci [Internet]. 2021 Apr. 14 [cited 2026 Oct. 16];9(B):112-5. Available from: https://oamjms.eu/index.php/mjms/article/view/5457