Analysis of Complement Factor H gene polymorphisms and their association with clinical manifestations ofleptospirosis

Anna A, Monika G (2018) Splicing mutations in human genetic disorders: examples, detection, and confirmation. J Appl Genet 59:253–268. https://doi.org/10.1007/s13353-018-0444-7

Article  PubMed  PubMed Central  CAS  Google Scholar 

Barbosa AS, Abreu PAE, Vasconcellos SA et al (2009) Immune Evasion of Leptospira Species by Acquisition of Human Complement Regulator C4BP. Infect Immun 77:1137–1143. https://doi.org/10.1128/IAI.01310-08

Article  PubMed  CAS  Google Scholar 

Barbosa AS, Monaris D, Silva LB et al (2010) Functional Characterization of LcpA, a Surface-Exposed Protein of Leptospira spp. That Binds the Human Complement Regulator C4BP. Infect Immun 78:3207–3216. https://doi.org/10.1128/IAI.00279-10

Article  PubMed  PubMed Central  CAS  Google Scholar 

Bharti AR, Nally JE, Ricaldi JN et al (2003) Leptospirosis: A zoonotic disease of global importance. Lancet Infect Dis 3(12):757–771. https://doi.org/10.1016/s1473-3099(03)00830-2

Castiblanco-Valencia MM, Fraga TR, Silva LB Da et al (2012) Leptospiral immunoglobulin-like proteins interact with human complement regulators factor H, FHL-1, FHR-1, and C4BP. J Infect Dis 205. https://doi.org/10.1093/infdis/jir875

Castiblanco-Valencia M, Fraga T, Isaac L et al (2016) Plasmin cleaves fibrinogen and the human complement proteins C3b and C5 in the presence of Leptospira interrogans proteins: A new role of LigA and LigB in invasion and complement immune evasion. Immunobiology 221. https://doi.org/10.1016/j.imbio.2016.01.001

Cédola M, Chiani Y, Pretre G et al (2015) Association of Toll-like receptor 2 Arg753Gln and Toll-like receptor 1 Ile602Ser single-nucleotide polymorphisms with leptospirosis in an Argentinian population. Acta Trop 146:73–80. https://doi.org/10.1016/j.actatropica.2015.03.007

Article  PubMed  CAS  Google Scholar 

Clark SJ, Ridge LA, Herbert AP et al (2013) Tissue-Specific Host Recognition by Complement Factor H Is Mediated by Differential Activities of Its Glycosaminoglycan-Binding Regions. J Immunol 190:2049–2057. https://doi.org/10.4049/jimmunol.1201751

Article  PubMed  CAS  Google Scholar 

Contreras AV, Zenteno JC, Fernández-López JC et al (2014) CFH haplotypes and ARMS2, C2, C3, and CFB alleles show association with susceptibility to age-related macular degeneration in Mexicans. Mol Vis 20:105–116

Costa F, Hagan JE, Calcagno J et al (2015) Global Morbidity and Mortality of Leptospirosis: A Systematic Review. PLoSNegl Trop Dis 9. https://doi.org/10.1371/journal.pntd.0003898

da Silva LB, Miragaia LDS, Dantas Breda LC et al (2015) Pathogenic Leptospira species acquire factor H and vitronectin via the surface protein LcpA. Infect Immun 83. https://doi.org/10.1128/IAI.02844-14

Despriet DDG, Klaver CCW, Witteman JCM et al (2006) Complement Factor H Polymorphism, Complement Activators, and Risk of Age-Related Macular Degeneration. JAMA 296:301. https://doi.org/10.1001/jama.296.3.301

Article  PubMed  Google Scholar 

Esteves LM, Bulhões SM, Branco CC et al (2014) Human Leptospirosis: Seroreactivity and Genetic Susceptibility in the Population of São Miguel Island (Azores, Portugal). PLoS ONE 9:e108534. https://doi.org/10.1371/journal.pone.0108534

Article  PubMed  PubMed Central  CAS  Google Scholar 

Fialho RN, Martins L, Pinheiro JP et al (2009) Role of human leukocyte antigen, killer-cell immunoglobulin-like receptors, and cytokine gene polymorphisms in leptospirosis. Hum Immunol 70:915–920. https://doi.org/10.1016/j.humimm.2009.08.007

Article  PubMed  CAS  Google Scholar 

Harrison RES, Morikis D (2019) Molecular Mechanisms of Macular Degeneration Associated with the Complement Factor H Y402H Mutation. Biophys J 116:215–226. https://doi.org/10.1016/j.bpj.2018.12.007

Article  PubMed  CAS  Google Scholar 

Johnson RC, Muschel LH (1966) Antileptospiral Activity of Serum I. Normal Immune Serum J Bacteriol 91:1403–1409. https://doi.org/10.1128/jb.91.4.1403-1409.1966

Article  PubMed  CAS  Google Scholar 

Jylhävä J, Eklund C, Jylhä M et al (2009) Complement factor H 402His variant confers an increased mortality risk in Finnish nonagenarians: The Vitality 90+ study. ExpGerontol 44:297–299. https://doi.org/10.1016/j.exger.2008.10.006

Article  CAS  Google Scholar 

Langford-Smith A, Day AJ, Bishop PN, Clark SJ (2015) Complementing the Sugar Code: Role of GAGs and Sialic Acid in Complement Regulation. Front Immunol 6. https://doi.org/10.3389/fimmu.2015.00025

Levett PN (2001) Leptospirosis. Clinmicrobiol Rev 14:296–326. https://doi.org/10.1128/CMR.14.2.296-326.2001

Article  CAS  Google Scholar 

Lingappa J, Kuffner T, Tappero J et al (2004) HLA-DQ6 and ingestion of contaminated water: possible gene–environment interaction in an outbreak of Leptospirosis. Genes Immun 5:197–202. https://doi.org/10.1038/sj.gene.6364058

Article  PubMed  CAS  Google Scholar 

Meri S, Morgan BP, Davies A et al (1990) Human protectin (CD59), an 18000–20000 MW complement lysis restricting factor, inhibits C5b–8 catalysed insertion of C9 into lipid bilayers. Immunology 71:1–9

PubMed  PubMed Central  CAS  Google Scholar 

Meri T, Murgia R, Stefanel P et al (2005) Regulation of complement activation at the C3-level by serum resistant leptospires. MicrobPathog 39:139–147. https://doi.org/10.1016/j.micpath.2005.07.003

Article  CAS  Google Scholar 

Neumann HPH, Salzmann M, Bohnert-Iwan B et al (2003) Haemolyticuraemic syndrome and mutations of the factor H gene: A registry-based study of German speaking countries. J Med Genet 40 https://doi.org/10.1136/jmg.40.9.676

Osborne AJ, Breno M, Borsa NG et al (2018) Statistical Validation of Rare Complement Variants Provides Insights into the Molecular Basis of Atypical Hemolytic Uremic Syndrome and C3 Glomerulopathy. J Immunol 200:2464–2478. https://doi.org/10.4049/jimmunol.1701695

Article  PubMed  CAS  Google Scholar 

Pangburn MK, Schreiber RD, Müller-Eberhard HJ (1977) Human complement C3b inactivator: isolation, characterization, and demonstration of an absolute requirement for the serum protein beta1H for cleavage of C3b and C4b in solution. J Exp Med 146:257–270. https://doi.org/10.1084/jem.146.1.257

Article  PubMed  CAS  Google Scholar 

Parente R, Clark SJ, Inforzato A, Day AJ (2017) Complement factor H in host defense and immune evasion. Cell Mol Life Sci 74:1605–1624. https://doi.org/10.1007/s00018-016-2418-4

Article  PubMed  CAS  Google Scholar 

Pereira MM, Schneider MC, Munoz-Zanzi C et al (2017) A road map for leptospirosis research and health policies based on country needs in Latin America. Rev Panam Salud Pública 1–9. https://doi.org/10.26633/RPSP.2017.131

Picardeau M (2013) Diagnosis and epidemiology of leptospirosis. Médecine Mal Infect 43:1–9. https://doi.org/10.1016/j.medmal.2012.11.005

Article  CAS  Google Scholar 

Prosser BE, Johnson S, Roversi P et al (2007) Structural basis for complement factor H–linked age-related macular degeneration. J Exp Med 204:2277–2283. https://doi.org/10.1084/jem.20071069

Article  PubMed  PubMed Central  CAS  Google Scholar 

Richards A, Buddles MR, Donne RL et al (2001) Factor H Mutations in Hemolytic Uremic Syndrome Cluster in Exons 18–20, a Domain Important for Host Cell Recognition. Am J Hum Genet 68:485–490. https://doi.org/10.1086/318203

Article  PubMed  PubMed Central  CAS  Google Scholar 

Ripoche J, Day AJ, Harris TJR, Sim RB (1988) The complete amino acid sequence of human complement factor H. Biochem J 249:593–602. https://doi.org/10.1042/bj2490593

Article  PubMed  PubMed Central  CAS  Google Scholar 

Ministério da Saúde, Ministério da Saude (n.d.). https://www.gov.br/saude/pt-br/pagina-inicial. Accessed 14 June 2024

Silva A (2011) Interaction of human complement factor H variants Tyr402 and His402 with Leptospira spp. Front Immunol 2 https://doi.org/10.3389/fimmu.2011.00044

Teixeira AG, Silva AS, Lin FLH, et al (2010) Association of complement factor H Y402H polymorphism and age-related macular degeneration in Brazilian patients. ActaOphthalmol 88 https://doi.org/10.1111/j.1755-3768.2010.01932.x

Tzoumas N, Hallam D, Harris CL et al (2021) Revisiting the role of factor H in age-related macular degeneration: Insights from complement-mediated renal disease and rare genetic variants. SurvOphthalmol 66:378–401. https://doi.org/10.1016/j.survophthal.2020.10.008

Article  Google Scholar 

Weiler JM, Daha MR, Austen KF, Fearon DT (1976) Control of the amplification convertase of complement by the plasma protein beta1H. Proc Natl AcadSci 73:3268–3272. https://doi.org/10.1073/pnas.73.9.3268

Article  CAS  Google Scholar 

Zareparsi S, Branham KEH, Li M et al (2005) Strong Association of the Y402H Variant in Complement factor H at 1q32 with Susceptibility to Age-Related Macular Degeneration. Am J Hum Genet 77:149–153. https://doi.org/10.1086/431426

Article  PubMed  PubMed Central  CAS  Google Scholar 

Comments (0)

No login
gif