Association of FokI polymorphism of the VDR genewith systemic lupus erythematosus in anadolescent population of the Colombian Caribbean
datacite.rights | http://purl.org/coar/access_right/c_abf2 | spa |
dc.contributor.author | Garavito, Gloria | |
dc.contributor.author | Fang, Luis | |
dc.contributor.author | Domínguez-Vargas, Alex | |
dc.contributor.author | Moreno-Woo, Ana | |
dc.contributor.author | López-Luch, Guillermo | |
dc.contributor.author | Iglesias, Antonio | |
dc.contributor.author | Aroca, Gustavo | |
dc.contributor.author | Egea, Eduardo | |
dc.date.accessioned | 2023-03-15T13:26:21Z | |
dc.date.available | 2023-03-15T13:26:21Z | |
dc.date.issued | 2023 | |
dc.description.abstract | Vitamin D and vitamin D receptor (VDR) polymorphisms are associated withautoimmune diseases including systemic lupus erythematosus (SLE). The aim of this studyis to assess the genetic association between VDR polymorphisms: TaqI, ApaI, Bsml and FokIand SLE with serum levels of Vitamin D in the Colombian Caribbean population.Method: Case and control study. One hundred and thirty-three patients with SLE and 100healthy individuals were included. VDR polymorphism were genotyped by RT-PCR andTaqman®probes. Allelic, genotypic and haplotype associations were estimated. Serum vita-min D concentrations were quantified by Elisa. Values of 30 to 100 ng/ml were establishedas a normal reference range. P values <.05 were considered statistically significant.Results: A high prevalence of SLE was observed in women (94%) and was associated witha higher risk of SLE [OR: 10.8; 95% CI: 4.7–24.6] (p < .05). Moreover, higher risk of SLE wasobserved in individuals with FokI VDR [rs2228570] [OR: 1.58; 95% CI: 1.05−2.36] in allelic mod-els. The ACCA Haplotype of TaqI/ApaI/Bsml/FokI polymorphisms was associated with higherrisk of SLE [OR = 2.28, 95% CI = 1.12−4.66, psim <.01]. Vitamin D deficiency was evidenced in11.3% of the patients. | eng |
dc.description.abstract | La vitamina D y los polimorfismos en el receptor de vitamina D (VDR) se asocian con enfermedades autoinmunes, incluido el lupus eritematoso sistémico (LES). El objetivo de este estudio es analizar la asociación genética entre los polimorfismos de VDR: TaqI, ApaI, Bsml y FokI, y la susceptibilidad al LES, así como su relación con los niveles séricos de vitamina D en población del Caribe colombiano. Metodología: Estudio de casos y controles. Se incluyeron 133 pacientes adultos con diagnós- tico de LES y 100 individuos sanos. Los polimorfismos VDR fueron genotipados por RT-PCR y sondas Taqman®. Se estimaron asociaciones alélicas, genotípicas y haplotípicas. Las concentraciones séricas de vitamina D fueron cuantificadas por Elisa. Se establecieron valores de 30 a 100 ng/mL como rango normal de referencia. Valores p < 0,05 fueron considerados estadísticamente significativos. Resultados: Se observó una alta prevalencia de LES en pacientes femeninas (94%) y se asoció a mayor riesgo de LES [OR: 10,8; IC 95%: 4,7–24,6] (p < 0,05). Se evidenció mayor riesgo de LES en individuos con polimorfismo FokI del gen VDR [rs2228570] [OR: 1,58; IC 95%: 1,05−2,36] en modelos alélicos. El haplotipo ACCA de los polimorfismos TaqI, ApaI, Bsml yFokI se asoció a mayor riesgo de LES [OR: 2,28, IC 95%: 1,12-4,66, psim< 0,01]. Se evidenció deficiencia de vitamina D en 11,3% de los pacientes. | spa |
dc.format.mimetype | eng | |
dc.identifier.doi | https://doi.org/10.1016/j.rcreue.2021.04.008 | |
dc.identifier.issn | 24444405 | |
dc.identifier.uri | https://hdl.handle.net/20.500.12442/11991 | |
dc.identifier.url | https://nam10.safelinks.protection.outlook.com/?url=https%3A%2F%2Fwww.sciencedirect.com%2Fscience%2Farticle%2Fpii%2FS244444052300016X&data=05%7C01%7Crepositorio.digital%40unisimon.edu.co%7Cec72927da02c43f1ca6b08db24c4c071%7C3430354174ec4d4a8c5a8049d2fd6ce6%7C0%7C0%7C638144199686787421%7CUnknown%7CTWFpbGZsb3d8eyJWIjoiMC4wLjAwMDAiLCJQIjoiV2luMzIiLCJBTiI6Ik1haWwiLCJXVCI6Mn0%3D%7C3000%7C%7C%7C&sdata=Mzi0sBFd27mI4BkVT2cXLgdUlXVT9XHDx2VC7irQcbI%3D&reserved=0 | |
dc.language.iso | eng | spa |
dc.publisher | Elsevier | spa |
dc.rights | Attribution-NonCommercial-NoDerivatives 4.0 Internacional | * |
dc.rights.accessrights | info:eu-repo/semantics/restrictedAccess | spa |
dc.rights.uri | http://creativecommons.org/licenses/by-nc-nd/4.0/ | * |
dc.source | Asociación Colombiana de Reumatología | spa |
dc.source | rev colomb reumatol | eng |
dc.source | Vol. XX No. XX Año 2023 | |
dc.subject | Systemic lupus erythematosus | eng |
dc.subject | VDR | eng |
dc.subject | Vitamin D | eng |
dc.subject | Polymorphism | eng |
dc.subject | Lupus eritematoso sistémico | spa |
dc.subject | Vitamina D | spa |
dc.subject | Polimorfismo | spa |
dc.title | Association of FokI polymorphism of the VDR genewith systemic lupus erythematosus in anadolescent population of the Colombian Caribbean | eng |
dc.title.translated | Asociación del poRkI del gen VDR y lupus eritematoso sistémico en población adolescente del Caribe colombiano | spa |
dc.type.driver | info:eu-repo/semantics/article | spa |
dc.type.spa | Artículo científico | spa |
dcterms.references | Lightstone L. Lupus nephritis: Where are we now? Curr OpinRheumatol. 2010;22:252–6,http://dx.doi.org/10.1097/BOR.0b013e3283386512. | eng |
dcterms.references | Davidson A. What is damaging the kidney in lupus nephritis?Nat Rev Rheumatol. 2016;12:143–53,http://dx.doi.org/10.1038/nrrheum.2015.159. | eng |
dcterms.references | Kashgarian M. Lupus nephritis: Pathology, pathogenesis,clinical correlations, and prognosis. In: Wallace D, Hahn B,Dubois E, editors. Dubois’ Lupus erythematosus. 4th ed.Lippincott Williams & Wilkins; 2002. p. 1061–76. | eng |
dcterms.references | Salimi S, Mohammadoo-Khorasani M, Tabatabai E, SandoughiM, Zakeri Z, Naghavi A. XRCC1 Arg399Gln and Arg194Trppolymorphisms and risk of systemic lupus erythematosus inan Iranian population: A pilot study. Biomed Res Int.2014;2014:1–5, http://dx.doi.org/10.1155/2014/492956. | eng |
dcterms.references | Moudi B, Salimi S, Farajian Mashhadi F, Sandoughi M, ZakeriZ. Association of FAS and FAS ligand genes polymorphismand risk of systemic lupus erythematosus. Sci World J.2013;2013:1–6, http://dx.doi.org/10.1155/2013/176741. | eng |
dcterms.references | Cui Y, Sheng Y, Zhang X. Genetic susceptibility to SLE: Recentprogress from GWAS. J Autoimmun. 2013;41:25–33,http://dx.doi.org/10.1016/j.jaut.2013.01.008. | eng |
dcterms.references | Narooie-Nejad M, Moossavi M, Torkamanzehi A, MoghtaderiA, Salimi S. Vitamin D receptor gene polymorphism and therisk of multiple sclerosis in South Eastern of Iran. J MolNeurosci. 2015;56:572–6,http://dx.doi.org/10.1007/s12031-015-0513-x. | eng |
dcterms.references | Bae SC, Lee YH. Vitamin D receptor FokI, TaqI, and ApaIpolymorphisms and susceptibility to systemic lupuserythematosus: an updated meta-analysis. Clin Rheumatol.2018;37:1529–37, http://dx.doi.org/10.1007/s10067-018-4036-z. | eng |
dcterms.references | Monticielo OA, Teixeira TDM, Chies JAB, Brenol JCT, XavierRM. Vitamin D and polymorphisms of VDR gene in patientswith systemic lupus erythematosus. Clin Rheumatol.2012;31:1411–21, http://dx.doi.org/10.1007/s10067-012-2021-5. | eng |
dcterms.references | Watad A, Neumann SG, Soriano A, Amital H, Shoenfeld Y.Vitamin D and systemic lupus erythematosus: Myth orreality? Isr Med Assoc J. 2016;18:177–82. | eng |
dcterms.references | Boonstra A, Barrat FJ, Crain C, Heath VL, Savelkoul HF, O’GarraA. 1alpha,25-Dihydroxyvitamin d3 has a direct effect on naiveCD4(+) T cells to enhance the development of Th2 cells. JImmunol. 2001;167:4974–80,http://dx.doi.org/10.4049/jimmunol.167.9.4974. | eng |
dcterms.references | Miyamoto K, Kesterson RA, Yamamoto H, Taketani Y,Nishiwaki E, Tatsumi S, et al. Structural organization of thehuman vitamin D receptor chromosomal gene and itspromoter. Mol Endocrinol. 1997;11:1165–79,http://dx.doi.org/10.1210/mend.11.8.9951. | eng |
dcterms.references | von Essen MR, Kongsbak M, Schjerling P, Olgaard K, Odum N,Geisler C. Vitamin D controls T cell antigen receptor signalingand activation of human T cells. Nat Immunol. 2010;11:344–9,http://dx.doi.org/10.1038/ni.1851. | eng |
dcterms.references | Smith-Garvin JE, Koretzky GA, Jordan MS. T cell activation.Annu Rev Immunol. 2009;27:591–619,http://dx.doi.org/10.1146/annurev.immunol.021908.132706 | eng |
dcterms.references | Ghoreishi M, Bach P, Obst J, Komba M, Fleet JC, Dutz JP.Expansion of antigen-specific regulatory T cells with thetopical vitamin d analog calcipotriol. J Immunol.2009;182:6071–8, http://dx.doi.org/10.4049/jimmunol.0804064. | eng |
dcterms.references | Gorman S, Kuritzky LA, Judge MA, et al. Topically applied1,25-dihydroxyvitamin D3 enhances the suppressive activityof CD4+CD25+ cells in the draining lymph nodes. J Immunol.2007;179:6273–83,http://dx.doi.org/10.4049/jimmunol.179.9.6273. | eng |
dcterms.references | Chen S, Sims GP, Chen XX, Gu YY, Chen S, Lipsky PE.Modulatory effects b of 1,25-dihydroxyvitamin D3 on humanB cell differentiation. J Immunol. 2007;179:1634–47,http://dx.doi.org/10.4049/jimmunol.179.3.1634. | eng |
dcterms.references | Sabio JM, Vargas-Hitos JA, Martinez-Bordonado J,Navarrete-Navarrete N, Díaz-Chamorro A, Olvera-Porcel C,et al. Association between low 25-hydroxyvitamin D, insulinresistance and arterial stiffness in nondiabetic women withsystemic lupus erythematosus. Lupus. 2015;24:155–63,http://dx.doi.org/10.1177/0961203314551811. | eng |
dcterms.references | Koizumi T, Nakao Y, Matsui T, Nakagawa T, Matsuda S,Komoriya K, et al. Effects of corticosteroid and1,24R-dihydroxy-vitamin D3 administration onlymphoproliferation and autoimmune disease inMRL/MP-lpr/lpr mice. Int Arch Allergy Appl Immunol.1985;77:396–404, http://dx.doi.org/10.1159/000233815. | eng |
dcterms.references | Di Rosa M, Malaguarnera M, Nicoletti F, Malaguarnera L.Vitamin D3: A helpful immuno-modulator. Immunology.2011;134:123–39,http://dx.doi.org/10.1111/j.1365-2567.2011.03482.x. | eng |
dcterms.references | Cauci S, Maione V, Buligan C, Linussio M, Serraino D, Stinco G.BsmI (rs1544410) and FokI (rs2228570) vitamin D receptorpolymorphisms, smoking, and body mass index as riskfactors of cutaneous malignant melanoma in northeast Italy.Cancer Biol Med. 2017;14:302–18,http://dx.doi.org/10.20892/j.issn.2095-3941.2017.0064. | eng |
dcterms.references | Jiang LL, Zhang C, Zhang Y, Ma F, Guan Y. Associationsbetween polymorphisms in VDR gene and the risk ofosteoporosis: A meta-analysis. Arch Physiol Biochem.2020:1–8, http://dx.doi.org/10.1080/13813455.2020.1787457. | eng |
dcterms.references | Zhang WT, Jin TF, Chen L. Associations of four common VDRpolymorphisms with rheumatoid arthritis and systemiclupus erythematosus: Evidence from a meta-analysis. Lupus.2020;29:364–70, http://dx.doi.org/10.1177/0961203320909432. | eng |
dcterms.references | Ospina-Caicedo AI, Cardona-Rincón AD, Bello-Gualtero JM,Valle-O˜nate R, Romero-Sánchez C, Chalem-Choueka P, et al.Lower levels of vitamin D associated with disease activity inColombian patients with systemic lupus erythematosus. CurrRheumatol Rev. 2019;15:146–53,http://dx.doi.org/10.2174/1573397114666181015161547. | eng |
dcterms.references | De Azevedo Silva J, Addobbati C, Sandrin-Garcia P, Crovella S.Systemic lupus erythematosus: old and new susceptibilitygenes versus clinical manifestations. Curr Genomics.2014;15:52–65,http://dx.doi.org/10.2174/138920291501140306113715. | eng |
dcterms.references | Hahn BH, McMahon MA, Wilkinson A, Wallace WD, Daikh DI,Fitzgerald JD, et al. American College of Rheumatologyguidelines for screening, treatment, and management oflupus nephritis. Arthritis Care Res (Hoboken).2012;64:797–808, http://dx.doi.org/10.1002/acr.21664. | eng |
dcterms.references | Miller SA, Dykes DD, Polesky HF. A simple salting outprocedure for extracting DNA from human nucleated cells.Nucleic Acids Res. 1988;16:1215,http://dx.doi.org/10.1093/nar/16.3.1215. | eng |
dcterms.references | Ross AC, Manson JE, Abrams SA, Aloia JF, Brannon PM, ClintonSK, et al. The 2011 report on dietary reference intakes forcalcium and vitamin D from the Institute of Medicine: Whatclinicians need to know. J Clin Endocrinol Metab.2011;96:53–8, http://dx.doi.org/10.1210/jc.2010-2704. | eng |
dcterms.references | R Core Team. https://www.R-project.org/, 2018. | eng |
dcterms.references | Muhammad Yusoff F, Wong KK, Mohd Redzwan N. Th1, Th2,and Th17 cytokines in systemic lupus erythematosus.Autoimmunity. 2020;53:8–20,http://dx.doi.org/10.1080/08916934.2019.1693545. | eng |
dcterms.references | Akahoshi M, Nakashima H, Tanaka Y, Kohsaka T, Nagano S,Ohgami E, et al. Th1/Th2 balance of peripheral T helper cellsin systemic lupus erythematosus. Arthritis Rheum.1999;42:1644–8,http://dx.doi.org/10.1002/1529-0131(199908)42:8<1644::AID-ANR12>3.0.00 | eng |
dcterms.references | Chan RW, Lai FM, Li EK, Tam LS, Chow KM, Li PK, et al.Imbalance of Th1/Th2 transcription factors in patients withlupus nephritis. Rheumatology. 2006;45:951–7,http://dx.doi.org/10.1093/rheumatology/kel029. | eng |
dcterms.references | Moulton VR, Suarez-Fueyo A, Meidan E, Li H, Mizui M, TsokosGC. Pathogenesis of human systemic lupus erythematosus: acellular perspective. Trends Mol Med. 2017;23:615–35,http://dx.doi.org/10.1016/j.molmed.2017.05.006. | eng |
dcterms.references | Wigren M, Nilsson J, Kaplan MJ. Pathogenic immunity insystemic lupus erythematosus and atherosclerosis: commonmechanisms and possible targets for intervention. J InternMed. 2015;278:494–506, http://dx.doi.org/10.1111/joim.12357 | eng |
dcterms.references | Han S, Zhuang H, Shumyak S, Yang L, Reeves WH.Mechanisms of autoantibody production in systemic lupuserythematosus. Front Immunol. 2015;6:228,http://dx.doi.org/10.3389/fimmu.2015.00228. | eng |
dcterms.references | Aranow C. Vitamin D and the immune system. J Investig Med.2011;59:881–6,http://dx.doi.org/10.2310/JIM.0b013e31821b8755. | eng |
dcterms.references | Abou-Raya A, Abou-Raya S, Helmii M. The effect of vitamin Dsupplementation on inflammatory and hemostatic markersand disease activity in patients with systemic lupuserythematosus: A randomized placebo-controlled trial. JRheumatol. 2013;40:265–72,http://dx.doi.org/10.3899/jrheum.111594. | eng |
dcterms.references | Uribe AG, Vilá LM, McGwin G, Sanchez ML, Reveille JD,Alarcón GS. The systemic lupus activity measure-revised, theMexican systemic lupus erythematosus disease activity Index(Sledai), and a modified Sledai-2K are adequate instrumentsto measure disease activity in systemic lupus erythematosus.J Rheumatol. 2004;31:1934–40http://www.ncbi.nlm.nih.gov/pubmed/15468356 | eng |
dcterms.references | Xiong DH, Xu FH, Liu PY, Shen H, Long JR, Elze L, et al.Vitamin D receptor gene polymorphisms are linked to andassociated with adult height. J Med Genet. 2005;42:228–34,http://dx.doi.org/10.1136/jmg.2004.024083. | eng |
dcterms.references | Emerah AA, El-Shal AS. Role of vitamin D receptor genepolymorphisms and serum 25-hydroxyvitamin D level inEgyptian female patients with systemic lupus erythematosus.Mol Biol Rep. 2013;40:6151–62,http://dx.doi.org/10.1007/s11033-013-2726-9. | eng |
dcterms.references | Mao S, Huang S. Association between vitamin D receptorgene BsmI, FokI, ApaI and TaqI polymorphisms and the riskof systemic lupus erythematosus: A meta-analysis.Rheumatol Int. 2014;34:381–8,http://dx.doi.org/10.1007/s00296-013-2898-6. | eng |
dcterms.references | Monticielo OA, Brenol JC, Chies JA, Longo MG, Rucatti GG,Scalco R, et al. The role of BsmI and FokI vitamin D receptorgene polymorphisms and serum 25-hydroxyvitamin D inBrazilian patients with systemic lupus erythematosus. Lupus.2012;21:43–52, http://dx.doi.org/10.1177/096120331142179 | eng |
dcterms.references | Imam AA, Ibrahim HE, Farghaly MAA, Alkholy UM, GawishHH, Abdalmonem N, et al. Vitamin D receptor gene FokIpolymorphism in Egyptian children and adolescents withSLE: A case-control study. Lupus. 2017;26:1426–34,http://dx.doi.org/10.1177/0961203317725588. | eng |
dcterms.references | Zhou TB, Jiang ZP, Lin ZJ, Su N. Association of vitamin Dreceptor gene polymorphism with the risk of systemic lupuserythematosus. J Recept Signal Transduct Res. 2015;35:8–14,http://dx.doi.org/10.3109/10799893.2014.922577. | eng |
dcterms.references | Barbhaiya M, Costenbader KH. Ultraviolet radiation andsystemic lupus erythematosus. Lupus. 2014;23:588–95,http://dx.doi.org/10.1177/0961203314530488. | eng |
dcterms.references | Barbhaiya M, Costenbader KH. Environmental exposures andthe development of systemic lupus erythematosus. Curr OpinRheumatol. 2016;28:497–505,http://dx.doi.org/10.1097/BOR.0000000000000318. | eng |
dcterms.references | Ahluwalia J, Marsch A. Photosensitivity and photoprotectionin patients with lupus erythematosus. Lupus.2019;28:697–702, http://dx.doi.org/10.1177/0961203319839486. | eng |
dcterms.references | Zandman-Goddard G, Solomon M, Rosman Z, Peeva E,Shoenfeld Y. Environment and lupus-related diseases. Lupus.2012;21:241–50, http://dx.doi.org/10.1177/0961203311426568. | eng |
dcterms.references | Schoindre Y, Jallouli M, Tanguy ML, Ghillani P, Galicier L,Aumaître O, et al. Lower vitamin D levels are associated withhigher systemic lupus erythematosus activity, but notpredictive of disease flare-up. Lupus Sci Med. 2014;1:e000027,http://dx.doi.org/10.1136/lupus-2014-000027. | eng |
dcterms.references | Yap KS, Northcott M, Hoi AB-Y, Morand EF, Nikpour M.Association of low vitamin D with high disease activity in anAustralian systemic lupus erythematosus cohort. Lupus SciMed. 2015;2:e000064,http://dx.doi.org/10.1136/lupus-2014-000064. | eng |
dcterms.references | Azab SF, Ali YF, Farghaly MAA, Hamed ME, Allah MAN, EmamAA, et al. Vitamin D receptor gene BsmI polymorphisms inEgyptian children and adolescents with systemic lupuserythematosus: A case-control study. Medicine (Baltimore).2016;95:e5233,http://dx.doi.org/10.1097/MD.0000000000005233. | eng |
dcterms.references | Carvalho JF, Blank M, Kiss E, Tarr T, Amital H, Shoenfeld Y.Anti-vitamin D, vitamin D in SLE: Preliminary results. Ann NY Acad Sci. 2007;1109:550–7,http://dx.doi.org/10.1196/annals.1398.061. | eng |
oaire.version | info:eu-repo/semantics/publishedVersion | spa |
Archivos
Bloque original
1 - 1 de 1
Cargando...
- Nombre:
- Association_FokI_polymorphism_the_VDR_gene_with_systemic_lupus_erythematosus.pdf
- Tamaño:
- 589.13 KB
- Formato:
- Adobe Portable Document Format
- Descripción:
Bloque de licencias
1 - 1 de 1
No hay miniatura disponible
- Nombre:
- license.txt
- Tamaño:
- 381 B
- Formato:
- Item-specific license agreed upon to submission
- Descripción: