True familial aggregation of recurrent furunculosis in families from the Province of Villa Clara

Authors

Keywords:

recurrent furunculosis, Staphylococcus aureus, familial aggregation

Abstract

Introduction: recurrent furunculosis consists of the sequential appearance of several boils in the patient over a period of months or years. Most cases are attributable to Staphylococcus aureus.
Objective: to identify genetic susceptibility in individuals affected by recurrent furunculosis according to the true familial aggregation of the disease in a group of families with affected individuals.
Methods: through an analytical study of a cross-sectional cohort reconstructed through a family strategy design, the information obtained from 132 patients aged three to 74 years and 43 healthy adults with no personal history of furunculosis in five municipalities of the Province of Villa Clara was analyzed. 2019 and 2022. Family aggregation was established using two different criteria. The variables were analyzed in accordance with their nature and the objectives of the study.
Results: true family aggregation was identified for both criteria, both for all relatives and for specific degrees of relationship, as well as the risk of furunculosis possessed by blood relatives of sick people.
Conclusions: the existence of other family members with the disease underlies the susceptibility to recurrent furunculosis in the individuals studied.

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Author Biographies

Vicente José Hernández Moreno, Universidad de Ciencias Médicas de Villa Clara, Unidad de Investigaciones Biomédicas

Especialista de I y II Grado en Inmunologia Básica Clínica. Máster en Enfermedades Infecciosas. Diplomado en Nutrición Humana. Diplomado en Direccion en Salud. Profesor Auxiliar en la Universidad de Ciencias Médicas de Villa Clara. Investigador Auxiliar.

Manuela Herrera Martínez, Universidad de Ciencias Médicas de Villa Clara, Unidad de Investigaciones Biomédicas

Especialista de I y II Grado en Genética Básica Clínica. Doctora en Ciencias Médicas. Profesora Titular de Genética en la Universidad de Ciencias Médicas de Villa Clara. Investigadora Titular.

References

1.DeLorenze GN, Nelson CL, Scott WK, Andrew SA, Ray GT, Tsai AL, et al. Polymorphisms in HLA Class II Genes Are Associated with Susceptibility to Staphylococcus aureus Infection in a White Population. J Infect Dis [Internet]. 2016 [citado 04/09/2023];213(5):816-823. Disponible en: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4747615/. https://doi.org/10.1093/infdis/jiv483

2.Deramaud TB, Ali M, Vinit S, Bonay M. Sulforaphane reduces intracellular survival of Staphylococcus aureus in macrophages through inhibition of JNK and p38 MAPK induced inflammation. Int J Mol Med [Internet]. 2020 [citado 24/08/2023];45(6):1927-1941. Disponible en: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7169961/. https://doi.org/10.3892/ijmm.2020.4563

3.Chokas AL, Trivedi CM, Lu MM, Tucker PW, Li S, Epstein JA, et al. Foxp1/2/4-NuRD interactions regulate gene expression and epithelial injury response in the lung via regulation of interleukin-6. J Biol Chem [Internet]. 2010 [citado 15/06/2023];285(17):13304-13. Disponible en: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2857082/. https://doi.org/10.1074/jbc.m109.088468

4.Bustamante Odriozola J, Pérez Martín A, San Miguel Martín N, Martínez Revuelta D, Villar Ramos J, Maamar El Asrie M, et al. Ántrax o forunculosis por Staphylococcus aureus: abordaje de las infecciones de partes blandas desde atención primaria. Med Gen Fam [Internet]. 2019 [citado 25/05/2023];8(4):181-183. Disponible en: https://mgyf.org/wp-content/uploads/2019/11/MGYF2019_046.pdf. http://dx.doi.org/10.24038/mgyf.2019.046

5.Bermúdez Garcell AJ, Serrano Gámez NB, Teruel Ginés R, Sánchez Sánchez RJ, Sigcho Romero CR. Mecanismos básicos de la epigenética. CCM [Internet]. 2020 [citado 15/06/2023];24(1):301-320. Disponible en: http://scielo.sld.cu/pdf/ccm/v24n1/1560-4381-ccm-24-01-301.pdf

6.Soreide K. Impact of Microbial Infection on the Human Epigenome and Carcinogenesis. En: Handbook of Epigenetics the New Molecular and Medical Genetics [Internet]. Birmingham: Elsevier; 2011 [citado 15/06/2023]. Disponible en: https://www.sciencedirect.com/book/9780123757098/handbook-of-epigenetics#book-info. https://doi.org/10.1016/B978-0-12-375709-8.00029-0

7.Genetic Alliance, el consorcio de la región de Nueva York y el Atlántico Medio de servicios genéticos y detección sistemática neonatal. Cómo entender la genética: una guía para pacientes y profesionales médicos en la región de Nueva York y el Atlántico Medio [Internet]. Washington: Genetic Alliance; 2009 [citado 15/06/2023]. Disponible en: https://geneticalliance.org/pdf/publications/PacientesyGuiadeProfesionalesdelaalud.pdf

8.Lardoeyt Ferrer R, Taboada Lugo N, Vázquez Sánchez V, Marcheco Teruel B, Rojas Betancourt I, Herrera Martínez M, et al. Fundamentos de Genética Médica Poblacional. La Habana: Editorial de Ciencias Médicas; 2016. p. 366.

9.Dorman T, Faraday N. Do gene variants really explain the heterogeneous outcomes in sepsis? Crit Care Med [Internet]. 2001 [citado 07/06/2023];29(3):684-5 Disponible en: https://pubmed.ncbi.nlm.nih.gov/11379541/. https://doi.org/10.1097/00003246-200103000-00048

10.Rascu A, Repp R, Westerdaal NA, Kalden JR, van de Winkel JG. Clinical relevance of Fc gamma receptor polymorphisms. Ann N Y Acad Sci [Internet]. 1997 [citado 07/06/2023];815:282-95. Disponible en: https://pubmed.ncbi.nlm.nih.gov/9186665/. https://doi.org/10.1111/j.1749-6632.1997.tb52070.x

11.Lorenz E, Mira JP, Frees KL, Schwartz DA. Relevance of mutations in the TLR4 receptor in patients with Gram-negative septic shock. Arch Intern Med [Internet]. 2002 [citado 07/06/2023];162(9):1028–32. Disponible en: https://jamanetwork.com/journals/jamainternalmedicine/article-abstract/211411. https://doi.org/10.1001/archinte.162.9.1028

12.Lorenz E, Mira JP, Cornish KL, Arbour NC, Schwartz DA. A novel polymorphism in the Toll-Like receptor 2 gene and its potential association with staphylococcal infection. Infect Immun [Internet]. 2000 [citado 07/06/2023];68(11):6398-6401. Disponible en: https://journals.asm.org/doi/full/10.1128/iai.68.11.6398-6401.2000. https://doi.org/10.1128/iai.68.11.6398-6401.2000

13.Ma P, Chen D, Pan J, Du B. Genomic polymorphism within interleukin-1 family cytokines influences the outcome of septic patients. Crit Care Med [Internet]. 2002 [citado 07/06/2023];30(5):1046-1050. Disponible en: https://pubmed.ncbi.nlm.nih.gov/12006801/. https://doi.org/10.1097/00003246-200205000-00015

14.Hu P, Chen Y, Pang J, Chen X. Association between IL-6 polymorphisms and sepsis. Innate Immun [Internet]. 2019 [citado 07/06/2023];25(8):465-472. Disponible en: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6900662/. https://doi.org/10.1177/1753425919872818

15.Jiménez-Sousa MA, Liu P, Medrano LM, Fernández-Rodríguez A, Almansa R, Gómez-Sánchez E, et al. Association of CD14 rs2569190 polymorphism with mortality in shock septic patients who underwent major cardiac or abdominal surgery: A retrospective study. Sci Rep [Internet]. 2018 [citado 07/06/2023];8:2698. Disponible en: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5807421/. https://doi.org/10.1038/s41598-018-20766-7

16.Mba Medie F, Sharma-Kuinkel BK, Ruffin F, Chan LC, Rossetti M, Chang YL, et al. Genetic variation of DNA methyltransferase-3A contributes to protection against persistent MRSA bacteremia in patients. PNAS [Internet]. 2019 [citado 07/06/2023];116(40):20087-20096. Disponible en: https://www.pnas.org/doi/pdf/10.1073/pnas.1909849116

17.Yeaman MR, Filler SG, Schmidt CS, Ibrahim AS, Edwards JE, Hennessey JP Jr. Applying convergent immunity to innovative vaccines targeting Staphylococcus aureus. Front Immunol [Internet]. 2014 [citado 25/05/2023];5:463. Disponible en: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4176462/. https://doi.org/10.3389/fimmu.2014.00463

18.Flores R, Villarroel JL, Valenzuela F. Enfrentamiento de las infecciones de piel en el adulto. Rev Méd Clín Las Condes [Internet]. 2021 [citado 25/05/2023];32(4):429-441. Disponible en: https://www.elsevier.es/es-revista-revista-medica-clinica-las-condes-202-articulo-enfrentamiento-infecciones-piel-el-adulto-S0716864021000754. https://orcid.org/10.1016/j.rmclc.2021.06.004

19.Spaan AN, Neehus AL, Laplantine E, Staels F, Ogishi M, Seeleuthner Y, et al. Human OTULIN haploinsufficiency impairs cell-intrinsic immunity to staphylococcal α-toxin. Science [Internet]. 2022 [citado 15/07/2023];376(6599):eabm6380. Disponible en: https://www.science.org/doi/full/10.1126/science.abm6380. https://doi.org/10.1126/science.abm6380

20.Wong Fok Lung T, Chan LC, Prince A, Yeaman MR, Archer NK, Aman MJ, etal. Staphylococcus aureus adaptive evolution: Recent insights on how immune evasion, immunometabolic subversion and host genetics impact vaccine development. Front Cell Infect Microbiol [Internet]. 2022 [citado 04/09/2023];12:1060810. Disponible en: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9831658/. https://doi.org/10.3389/fcimb.2022.106081

21.Yan Q, Ahn SH, MbaMedie F, Sharma-Kuinkel BK, Park LP, Scott WK, et al. Candidate genes on murine chromosome 8 are associated with susceptibility to Staphylococcus aureus infection in mice and are involved with Staphylococcus aureus septicemia in humans. PLoS One [Internet]. 2017 [citado 04/09/2023];12(6):e0179033. Disponible en: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5464679/. https://doi.org/10.1371/journal.pone.0179033

22.Casavilca-Zambrano S, Cancino-Maldonado K, Jaramillo-Valverde L, Guio H. Epigenética: la relación del medio ambiente con el genoma y su influencia en la salud mental. Rev Neuropsiquiatr [Internet]. 2019 [citado 25/05/2023];82(4):266-273. Disponible en: http://www.scielo.org.pe/scielo.php?script=sci_arttext&pid=S0034-85972019000400005. http://dx.doi.org/10.20453/rnp.v82i4.3648

23.Hidalgo PC. Consideraciones sobre la constitución genética de la población cubana. Rev Española Antropol Biol [Internet]. 1998 [citado 15/06/2023];19:5-20. Disponible en: https://dialnet.unirioja.es/servlet/articulo?codigo=8157918

24.Cyr DD, Allen AS, Du GJ, Ruffin F, Adams C, Thaden JT, et al. Evaluating genetic susceptibility to Staphylococcus aureus bacteremia in African Americans using admixture mapping. Genes Immun [Internet]. 2017 [citado 25/05/2023];18(2):95-99. Disponible en: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5435963/. https://doi.org/10.1038/gene.2017.6

25.Weichenberger CX, Rainer J, PattaroC, PramstallerPP, Domingues FS. Comparative assessment of different familial aggregation methods in the context of large and unstructured pedigrees. Bioinformatics [Internet]. 2019 [citado 15/06/2023];35(1):69-76. Disponible en: https://academic.oup.com/bioinformatics/article/35/1/69/5053313. https://doi.org/10.1093/bioinformatics/bty541

26.Oestergaard LB, Christiansen MN, Schmiegelow MD, Skov RL, Anderson PS, Torp-Petersen C, et al. Familial Clustering of Staphylococcus aureus Bacteremia in First-Degree Relatives: A Danish Nationwide Cohort Study. Ann Intern Med [Internet]. 2016 [citado 24/08/2023];165(6):390-8. Disponible en: https://pubmed.ncbi.nlm.nih.gov/27379577/. https://doi.org/10.7326/m15-2762

Published

2024-05-10

How to Cite

1.
Hernández Moreno VJ, Herrera Martínez M. True familial aggregation of recurrent furunculosis in families from the Province of Villa Clara. Acta Méd Centro [Internet]. 2024 May 10 [cited 2025 Jun. 30];18(2):e1964. Available from: https://revactamedicacentro.sld.cu/index.php/amc/article/view/1964