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Research Article

NR3C1, ABCB1, TNF and CYP2C19 Polymorphisms Association with the Response to the Treatment of Erythema Nodosum Leprosum

, , , , , , , , , & show all
Pages 503-516 | Received 02 Dec 2018, Accepted 01 Mar 2019, Published online: 24 May 2019

References

  • Ridley DS , JoplingWH. Classification of leprosy according to immunity. A five-group system. Int. J. Lepr. Other Mycobact. Dis.34(3), 255–273 (1966).
  • Fava V , OrlovaM , CobatA , AlcaïsA , MiraM , SchurrE. Genetics of leprosy reactions: an overview. Mem. Inst. Oswaldo Cruz.107(Suppl.1), 132–142 (2012).
  • Sousa ALM , FavaVM , SampaioLHet al. Genetic and immunological evidence implicates interleukin 6 as a susceptibility gene for leprosy type 2 reaction. J. Infect. Dis.205(9), 1417–1424 (2012).
  • Brazilian Ministry of Health . Diretrizes para vigilância, atenção e eliminacao da hanseníase como problema de saúde pública: manual técnico-operacional hanseniase (2016). http://portalsaude.saude.gov.br/images/pdf/2016/fevereiro/04/diretrizes-eliminacao-hanseniase-4fev16-web.pdf
  • Pocaterra L , JainS , ReddyRet al. Clinical course of erythema nodosum leprosum: an 11-year cohort study in Hyderabad, India. Am. J. Trop. Med. Hyg.74(5), 868–879 (2006).
  • Kahawita IP , WalkerSL , LockwoodDNJ. Leprosy type 1 reactions and erythema nodosum leprosum. An. Bras. Dermatol.83(1), 75–82 (2008).
  • Sarno EN , GrauGE , VieiraLM , NeryJA. Serum levels of tumour necrosis factor-alpha and interleukin-1 beta during leprosy reactional states. Clin. Exp. Immunol.84, 103–108 (1991).
  • Oliveira JM , RêgoJL , deLima Santana Net al. The −308 bp TNF gene polymorphism influences tumor necrosis factor expression in leprosy patients in Bahia State, Brazil. Infect. Genet. Evol.39, 147–154 (2016).
  • Balagon M , SaundersonPR , GelberRH. Does clofazimine prevent erythema nodosum leprosum (ENL) in leprosy? A retrospective study, comparing the experience of multibacillary patients receiving either 12 or 24 months WHO-MDT. Lepr. Rev.82(3), 213–221 (2011).
  • Negera E , WalkerSL , BoboshaKet al. The effects of prednisolone treatment on cytokine expression in patients with erythema nodosum leprosum reactions. Front. Immunol.9(189), (2018).
  • Van Veen NHJ , LockwoodDNJ , Van BrakelWH , RamirezJ , RichardusJH. Interventions for erythema nodosum leprosum. A Cochrane review. Lepr. Rev.80(4), 355–372 (2009).
  • Sugumaran DS . Leprosy reactions – complications of steroid therapy. Int. J. Lepr. Other Mycobact. Dis.66(1), 10–15 (1998).
  • Guerra J , PennaG , de CastroL , MartelliC , StefaniM. Erythema nodosum leprosum: clinical and therapeutic updateAn Bras Dermatol.77, 389–407 (2002).
  • Penna GO , MartelliCMT , MarojaMDF. Thalidomide in the treatment of erythema nodosum leprosum (ENL): systematic review of clinical trials and prospects of new investigation. 80(5), 511–522 (2005).
  • Sociedade Brasileira de Hansenologia , SociedadeBrasileira de Dermatologia. Projeto diretrizes hanseníase: episódios reacionais projeto diretrizes. Associação Médica Brasileira e Conselho Federal de Medicina1–19 (2003). www.saudedireta.com.br/docsupload/1331325697056.pdf
  • Feuth M , BrandsmaJW , FaberWR , BhattaraiB , FeuthT , AndersonAM. Erythema nodosum leprosum in Nepal: a retrospective study of clinical features and response to treatment with prednisolone or thalidomide. Lepr. Rev.79(3), 254–269 (2008).
  • Moreira AL , SampaioEP , ZmuidzinasA , FrindtP , SmithKA , KaplanG. Thalidomide exerts its inhibitory action on tumor necrosis factor alpha by enhancing mRNA degradation. J. Exp. Med.177(6), 1675–1680 (1993).
  • Sampaio EP , SarnoEN , GalillyR , CohnZA , KaplanG. Thalidomide selectively inhibits tumor necrosis factor alpha production by stimulated human monocytes. J. Exp. Med.173(3), 699–703 (1991).
  • Lockwood DN . The management of erythema nodosum leprosum: current and future options. Lepr. Rev.67(4), 253–259 (1996).
  • Wu JJ , HuangDB , PangKR , HsuS , TyringSK. Thalidomide: dermatological indications, mechanisms of action and side effects. Br. J. Dermatol.153(2), 254–273 (2005).
  • Sharma D , KwatraSG. Thalidomide for the treatment of chronic refractory pruritus. J. Am. Acad. Dermatol.74(2), 363–369 (2016).
  • Majer-Łobodzińska A , Adamiec-MroczekJ. Glucocorticoid receptor polymorphism in obesity and glucose homeostasis. Adv. Clin. Exp. Med.26(1), 143–148 (2017).
  • Koper JW , Van RossumEFC , VanDen Akker ELT. Glucocorticoid receptor polymorphisms and haplotypes and their expression in health and disease. Steroids92, 62–73 (2014).
  • Ambudkar SV , Kimchi-SarfatyC , SaunaZE , GottesmanMM. P-glycoprotein: from genomics to mechanism. Oncogene22(47 REV. ISS. 6), 7468–7485 (2003).
  • Marino S , VerzegnassiF , TamaroPet al. Response to glucocorticoids and toxicity in childhood acute lymphoblastic leukemia: role of polymorphisms of genes involved in glucocorticoid response. Pediatr. Blood Cancer53(6), 984–991 (2009).
  • Neben K , MytilineosJ , MoehlerTMet al. Polymorphisms of the tumor necrosis factor-alpha gene promoter predict for outcome after thalidomide therapy in relapsed and refractory multiple myeloma. Blood100(6), 2263–2265 (2002).
  • Du J , YuanZ , ZhangCet al. Role of the TNF-α promoter polymorphisms for development of multiple myeloma and clinical outcome in thalidomide plus dexamethasone. Leuk. Res.34(11), 1453–1458 (2010).
  • Basmaci C , PehlivanM , TomatirAet al. Effects of TNFα, NOS3, MDR1 gene polymorphisms on clinical parameters, prognosis and survival of multiple myeloma cases. Asian Pac. J. Cancer Prev.17(3), 1009–1014 (2016).
  • Ando Y , FuseE , FiggWD. Thalidomide metabolism by the CYP2C subfamily. Clin. Cancer Res.8(6), 1964–1973 (2002).
  • Li Y , JiangZ , XiaoY , LiL , GaoY. Metabolism of thalidomide by human liver microsome cytochrome CYP2C19 is required for its antimyeloma and antiangiogenic activities in vitro. Hematol. Oncol.30(1), 13–21 (2012).
  • Costa PDSS , FragaLR , KowalskiTW , DaxbacherELR , Schuler-FacciniL , ViannaFSL. Erythema nodosum leprosum: update and challenges on the treatment of a neglected condition. Acta Trop.183, 134–141 (2018).
  • Sortica VA , LindenauJD , CunhaMGet al. The effect of SNPs in CYP450 in chloroquine/primaquine Plasmodium vivax malaria treatment. Pharmacogenomics17(17), 1903–1911 (2016).
  • Liang K-Y , ZegerSL. Longitudinal data analysis using generalized linear models. Biometrika73(1), 13–22 (1986).
  • Wilson AG , SymonsJA , McDowellTL , McDevittHO , DuffGW. Effects of a polymorphism in the human tumor necrosis factor alpha promoter on transcriptional activation. Proc. Natl Acad. Sci. USA94(7), 3195–3199 (1997).
  • Lindenau JD , AltmannV , Schumacher-SchuhAF , RiederCR , HutzMH. Tumor necrosis factor alpha polymorphisms are associated with Parkinson’s disease age at onset. Neurosci. Lett.658, 133–136 (2017).
  • Kamizono S , YamadaA , KimuraA , KatoH. Polymorphism of the 5’flanking region of the human tumor necrosis factor (TNF)-α gene in Japanese. Tissue Antigens51(6), 605–612 (1998).
  • Barrett JC , FryB , MallerJ , DalyMJ. Haploview: analysis and visualization of LD and haplotype maps. Bioinformatics21(2), 263–265 (2005).
  • Stephens M , SmithNJ , DonnellyP. A new statistical method for haplotype reconstruction from population data. Am. J. Hum. Genet.68(4), 978–989 (2001).
  • Stephens M , DonnellyP. A comparison of bayesian methods for haplotype reconstruction from population genotype data. Am. J. Hum. Genet.73(5), 1162–1169 (2003).
  • Andrade E. S. . Desequilíbrio de ligações e blocos de haplótipos determinados pelas análises de 250k SNPS em três remanescentes de Quilombos [Doctoral dissertation]. Universidade de São Paulo, São Paulo, Brazil (2013).
  • Brazilian Ministry of Health . Guia prático sobre a Hanseníase1 (2017). http://portalarquivos2.saude.gov.br/images/pdf/2017/novembro/22/Guia-Pratico-de-Hanseniase-WEB.pdf
  • Herrera C , MarcosM , CarbonellCet al. Association between allelic variants of the human glucocorticoid receptor gene and autoimmune diseases: a systematic review and meta-analysis. Autoimmun. Rev.17(5), 449–456 (2018).
  • Kaymak Cihan M , KarabulutHG , YürürKutlay N , IlgınRuhi H , TükünA , OlcayL. Association between N363S and BclI polymorphisms of the glucocorticoid receptor gene (NR3C1) and glucocorticoid side effects during childhood acute lymphoblastic leukemia treatment. Turkish J. Hematol.34( 2), 151–158 (2017).
  • Mwinyi J , WengerC , ElorantaJJ , Kullak-UblickGA. Glucocorticoid receptor gene haplotype structure and steroid therapy outcome in IBD patients. World J. Gastroenterol.16(31), 3888–3896 (2010).
  • Manenschijn L , VanDen Akker ELT , LambertsSWJ , Van RossumEFC. Clinical features associated with glucocorticoid receptor polymorphisms: An overview. Ann. NY Acad. Sci.1179, 179–198 (2009).
  • Bouatou Y , StenzL , PonteB , FerrariS , Paoloni-GiacobinoA , HadayaK. Recipient rs1045642 polymorphism is associated with office blood pressure at 1-year post kidney transplantation: a single center pharmacogenetic cohort pilot study. Front. Pharmacol.9, 1–8 (2018).
  • Krupoves A , MacKD , SeidmanE , DeslandresC , AmreD. Associations between variants in the ABCB1 (MDR1) gene and corticosteroid dependence in children with Crohn’s disease. Inflamm. Bowel Dis.17(11), 2308–2317 (2011).
  • Ueda K , OkamuraN , HiraiMet al. Human P-glycoprotein transports cortisol, aldosterone, and dexamethasone, but not progesterone. J. Biol. Chem.267(34), 24248–24252 (1992).
  • Kroetz DL , Pauli-MagnusC , HodgesLMet al. Sequence diversity and haplotype structure in the human ABCB1 (MDR1, multidrug resistance transporter) gene. Pharmacogenetics13, 481–494 (2003).
  • Teeninga N , GuanZ , StevensJet al. Population pharmacokinetics of prednisolone in relation to clinical outcome in children with nephrotic syndrome. Ther. Drug Monit.38(4), 534–545 (2016).
  • Hoffmeyer S , BurkO , von RichterOet al. Functional polymorphisms of the human multidrug-resistance gene: multiple sequence variations and correlation of one allele with P-glycoprotein expression and activity in vivo. Proc. Natl Acad. Sci. USA97(7), 3473–3478 (2000).
  • Tavares LC , MarcattoLR , SoaresRAG , KriegerJE , PereiraAC , SantosPCJL. Association between ABCB1 polymorphism and stable warfarin dose requirements in Brazilian patients. Front. Pharmacol.9, 542 (2018).
  • Ameyaw MM , RegateiroF , LiTet al. MDR1 pharmacogenetics: frequency of the C3435T mutation in exon 26 is significantly influenced by ethnicity. Pharmacogenetics11(3), 217–221 (2001).
  • Cascorbi I , GerloffT , JohneAet al. Frequency of single nucleotide polymorphisms in the P-glycoprotein drug transporter MDR1 gene in white subjects. Clin. Pharmacol. Ther.69(3), 169–174 (2001).
  • Qidwai T , KhanF. Tumour necrosis factor gene polymorphism and disease prevalence. Scand. J. Immunol.74(6), 522–547 (2011).
  • Gutiérrez-Hurtado IA , Puebla-PérezAM , Delgado-SaucedoJIet al. Association between TNF-α −308G>A and −238g>a gene polymorphisms and TNF-α serum levels in Mexican colorectal cancer patients. Genet. Mol. Res.15(2), (2016).
  • Cardoso CC , PereiraAC , Brito-de-SouzaVNet al. TNF −308G>A single nucleotide polymorphism is associated with leprosy among Brazilians: a genetic epidemiology assessment, meta-analysis, and functional study. J. Infect. Dis.204(8), 1256–1263 (2011).
  • Kroeger KM , CarvilleKS , AbrahamLJ. The -308 tumor necrosis factor-alpha promoter polymorphism effects transcription. Mol. Immunol.34(5), 391–399 (1997).
  • Bouma G , CrusiusJBA , OudkerkPool Met al. Secretion of tumour necrosis factor α and lymphotoxin α in relation to polymorphisms in the TNF genes and HLA-DR alleles. Relevance for inflammatory bowel disease. Scand. J. Immunol.43(4), 456–463 (1996).
  • Youssef DM , El-ShalAS , HusseinS , SalahK , AhmedAERE. Tumor necrosis factor alpha gene polymorphisms and haplotypes in Egyptian children with nephrotic syndrome. Cytokine.102, 76–82 (2018).
  • Areeshi MY , MandalRK , DarSAet al. Impact of TNF -308 G>A (rs1800629) gene polymorphism in modulation of leprosy risk: a reappraise meta-analysis of 14 case–control studies. Biosci. Rep.37(5), pii:BSR20170806 (2017).
  • van Heel DA . Inflammatory bowel disease is associated with a TNF polymorphism that affects an interaction between the OCT1 and NF-kappaB transcription factors. Hum. Mol. Genet.11(11), 1281–1289 (2002).
  • Heidari Z , MoudiB , SaghebHM , MoudiM. Association of TNF-α gene polymorphisms with production of protein and susceptibility to chronic hepatitis B infection in the south east Iranian population. Hepat Mon.16(11), 1–11 (2016).
  • Hossein Ghaderian SM , NajarRA , TabatabaeiPanah AS. Tumor necrosis factor-α: investigation of gene polymorphism and regulation of TACE-TNF-α system in patients with acute myocardial infarction. Mol. Biol. Rep.38(8), 4971–4977 (2011).
  • Santos AR , AlmeidaAS , SuffysPNet al. Tumor necrosis factor promoter polymorphism (TNF2) seems to protect against development of severe forms of leprosy in a pilot study in Brazilian patients. Int. J. Lepr. Other Mycobact. Dis.68(3), 325–327 (2000).
  • Mekinian A , TamouzaR , PavySet al. Functional study of TNF-α promoter polymorphisms: literature review and meta-analysis. Eur. Cytokine Netw.22(2), 88–102 (2011).
  • Nabarro LEB , AggarwalD , ArmstrongM , LockwoodDNJ. The use of steroids and thalidomide in the management of erythema nodosum leprosum; 17 years at the hospital for tropical diseases, London. Lepr. Rev.87(2), 221–231 (2016).
  • Guerra JG , PennaGO , DeCastro LCM , MartelliCMT , StefaniMMA , CostaMB. Erythema nodosum leprosum case series report: clinical profile, immunological basis and treatment implemented in health services. Rev. Soc. Bras. Med. Trop.37(5), 384–390 (2004).
  • Kumar B , DograS , KaurI. Epidemiological characteristics of leprosy reactions: 15 years experience from north India. Int. J. Lepr. Other Mycobact. Dis.72(2), 125 (2004).2
  • Voorend CGN , PostEB. A systematic review on the epidemiological data of erythema nodosum leprosum, a type 2 leprosy reaction. PLoS Negl. Trop. Dis.7(10), e2440 (2013).
  • Walker SL , BalagonM , DarlongJet al. ENLIST 1: an international multi-centre cross-sectional study of the clinical features of erythema nodosum leprosum. PLoS Negl. Trop. Dis.9(9), e0004065 (2015).
  • Chandler DJ , HansenKS , MahatoB , DarlongJ , JohnA , LockwoodDNJ. Household costs of leprosy reactions (ENL) in rural India. PLoS Negl. Trop. Dis.9(1), e0003431 (2015).
  • Sales AM , de MatosHJ , NeryJAC , DuppreNC , SampaioEP , SarnoEN. Double-blind trial of the efficacy of pentoxifylline vs thalidomide for the treatment of type II reaction in leprosy. Brazilian J. Med. Biol. Res.40(2), 243–248 (2007).

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