Distribution of VDR Gene Polymorphisms Bsm-I rs1544410 and Apa-I rs7975232 among HIV/AIDS Patients from West Java

Hendro Hendro, Edhyana Sahiratmadja, Agnes Rengga Indrati, Ani Maskoen

Abstract


Vitamin D receptor, encoded by VDR gene, mediates vitamin D functions by not only regulating calcium metabolism and homeostasis but also in regulating immune response. Polymorphisms in VDR gene may increase the progression of human immunodeficiency virus (HIV) infection into acquired immunodeficiency syndrome (AIDS). This study aimed to explore the distribution of VDR polymorphisms among HIV sero-positive patients in West Java. A cross-sectional study was performed, recruiting 96 patients infected with HIV and VDR polymorphisms were analyzed. The genotype distributions of Bsm-I among HIV-infected patients were 2.2%, 18.5%, and 79.3% for BB, Bb, and bb, respectively whereas the distributions of Apa-I were 54.4%, 38.9%, and 6.7% for AA, Aa and aa, respectively. The frequency of VDR polymorphisms in Bsm-I among HIV-infected patients in West Java were considered high for b allele (88.6%), and in contrast for A allele in Apa-I that was 73.91%. Further studies involving healthy controls are needed to explore the VDR polymorphisms distribution in general population. Moreover, a cohort study, albeit challenging, is needed to further assess the association between VDR polymorphisms and the progression of HIV infection.


Distribusi Polimorfisme gen VDR Bsm-I rs1544410 dan Apa-I rs7975232 pada Pasien HIV/AIDS di Jawa Barat

Reseptor vitamin D yang dikode oleh gen VDR mempunyai peranan penting terhadap fungsi vitamin D, tidak hanya dalam regulasi metabolisme dan keseimbangan kalsium namun juga berperan dalam meregulasi respon imun. Polimorfisme pada gen VDR ditengarai dapat meningkatkan progresivitas infeksi human immunodeficiency virus (HIV) menjadi acquired immunodeficiency syndrome (AIDS). Penelitian ini bertujuan mengetahui distribusi polimorfisme gen VDR pada pasien HIV di Jawa Barat. Penelitian ini melibatkan 96 pasien HIV dan dilakukan analisis polimorfisme gen VDR. Distribusi genotip Bsm-I pada pasien HIV di Jawa Barat adalah 2,2%, 18,5%, dan 79,3% untuk BB, Bb, dan bb, secara beurutan; sedangkan pada Apa-I adalah 54,4%, 38,9%, dan 6,7% untuk AA, Aa, dan aa. Frekuensi polimorfisme pada Bsm-I pada pasien HIV di Jawa Barat tergolong tinggi pada alel b (88,6%) dan berbanding terbalik pada dan Apa-I dengan alel A yaitu 73,91%. Penelitian lebih lanjut yang melibatkan individu kontrol diperlukan untuk mengetahui distribusi polimorfisme gen VDR pada populasi umum. Selain itu, studi kohort pada pasien HIV/AIDS diperlukan untuk menilai hubungan antara polimorfisme gen VDR terhadap progresivitas infeksi HIV.


Keywords


Apa-I; Bsm-I; Polymorphism; Vitamin D Receptor; VDR gene

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References


Naif HM. Pathogenesis of HIV infection. Infect Dis Rep. 2013;5:26-30.

World Health Organization. HIV/AIDS 2015. Available from: https://www.who.int/gho/hiv/epidemic_status/deaths_text/en/ Accessed 7 Aug 2018

UNAIDS Indonesia 2016. Available from: https://www.unaids.org/en/regionscountries/countries/indonesia. Accessed 7 Aug 2018

Di Rosa M, Malaguarnera M, Nicoletti F, Malaguarnera L. Vitamin D3: a helpful immunomodulator. Immunology. 2011;134(2):123-139.

Pike JW, Meyer MB. The Vitamin D Receptor: New Paradigms for the Regulation of Gene Expression by 1,25-Dihydroxyvitamin D3. Rheum Dis Clin North Am. 2012;38(1):13-27.

Lake JE, Adams JS. Vitamin D in HIV-infected patients. Curr HIV/AIDS Rep. 2011;8:133-141.

Colombini A, Brayda-Bruno M, Lombardi G, Croiset SJ, Ceriani C, Buligan C, et al. BsmI, ApaI and TaqI polymorphisms in the Vitamin D Receptor gene (VDR) and association with lumbar spine pathologies: An Italian case-control study. PLoS One. 2016;11:1-15.

Deuster E, Jeschke U, Ye Y, Mahner S, Czogalla B. Vitamin D and VDR in gynecological cancers - A systematic review. Int J Mol Sci. 2017;18 (11). pii: E2328.

Bae SC, Lee YH. Vitamin D receptor FokI, TaqI, and ApaI polymorphisms and susceptibility to systemic lupus erythematosus: an updated meta-analysis. Clin Rheumatol. 2018;37(6):1529-1537.

Alagarasu K, Selvaraj P, Swaminathan S, Narendran G, Narayanan PR. 5′ regulatory and 3′ untranslated region polymorphisms of vitamin D receptor gene in south Indian HIV and HIV-TB patients. J Clin Immunol. 2009;29:196-204.

Jiménez-Sousa MA, Jiménez JL, Fernández-Rodríguez A, Brochado-Kith O, Bellón JM, Gutierrez F, Díez C, Bernal-Morell E, Viciana P, Muñoz-Fernández MA, Resino S. VDR rs2228570 Polymorphism Is Related to Non-Progression to AIDS in Antiretroviral Therapy Naïve HIV-Infected Patients. J Clin Med. 2019;8(3). pii: E311.

Monticielo OA, Chies JAB, Longo MGF, Rucatti GG, Scalco R, Xavier RM. The role of Bsm I and Fok I vitamin D receptor gene polymorphisms and serum 25-hydroxyvitamin D in Brazilian patients with systemic lupus erythematosus. Lupus. 2012;21:43-52.

Huang X, Cao Z, Zhang Z, Yang Y, Wang J, Fang D. No association between Vitamin D receptor gene polymorphisms and nasopharyngeal carcinoma in a Chinese Han population. Biosci Trends. 2011;5:99-103.

Sinaga BY, Amin M, Siregar Y, Sarumpaet SM. Correlation between Vitamin D receptor gene FOKI and BSMI polymorphisms and the susceptibility to pulmonary tuberculosis in an Indonesian Batak-ethnic population. Acta Med Indones. 2014;46(4):275-82.

Laplana M, Sánchez-de-la-Torre M, Puig T, Caruz A, Fibla J. Vitamin-D pathway genes and HIV-1 disease progression in injection drug users. Gene. 2014;545(1):163-9.

Torres C, Sánchez de la Torre M, García-Moruja C, Carrero AJ, Trujillo Mdel M, Fibla J, Caruz A. Immunophenotype of vitamin D receptor polymorphism associated to risk of HIV-1 infection and rate of disease progression. Curr HIV Res. 2010;8(6):487-92.

Moodley A, Qin M, Singh KK, Spector SA. Vitamin D-related Host Genetic Variants Alter HIV Disease Progression in Children. Pediatr Infect Dis J. 2013;32:1230-36.

Doitsh G, Galloway NLK, Geng X, Yang Z, Monroe KM, Zepeda O, Hunt PW, Hatano H, Sowinski S, Muñoz-Arias I, Greene WC. Cell death by pyroptosis drives CD4 T-cell depletion in HIV-1 infection. Nature. 2014;505:509-14.

Aguilar-Jiménez W, Zapata W, Caruz A, Rugeles MT. High transcript levels of vitamin D receptor are correlated with higher mRNA expression of human beta defensins and IL-10 in Mucosa of HIV-1-exposed seronegative individuals. PLoS One. 2013;8(12):e82717.

Cantorna M, Snyder L, Lin YD, Yang L. Vitamin D and 1,25(OH)2D Regulation of T cells. Nutrients. 2015;7(4):3011-3021.




DOI: https://doi.org/10.15395/mkb.v52n1.1680

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