Analysis of the heat shock protein 70 (HSP70) genetic variants in nonsegmental vitiligo patients.

Item request has been placed! ×
Item request cannot be made. ×
loading   Processing Request
  • Additional Information
    • Source:
      Publisher: Blackwell Science Country of Publication: England NLM ID: 0243704 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1365-4632 (Electronic) Linking ISSN: 00119059 NLM ISO Abbreviation: Int J Dermatol Subsets: MEDLINE
    • Publication Information:
      Publication: Oxford : Blackwell Science
      Original Publication: Philadelphia, Lippincott.
    • Subject Terms:
    • Abstract:
      Background: Vitiligo is an autoimmune disease that courses with skin depigmentation because of the destruction of melanocytes. Vitiliginous melanocyte is prone to damage because of oxidative stress which activates cellular stress response and the release of heat shock proteins such as HSP70 promoting immune activation against the melanocyte. Variants in HSP70 genes (HSPA) might alter their expression and thus modulate vitiligo susceptibility. Therefore, we sought to evaluate the role of the 5' untranslated region HSPA1A G/C (rs1043618) and the exonic HSPA1B A/G (rs1061581) and HSPA1L T/C (rs2227956) gene variants in nonsegmental vitiligo.
      Methods: A total of 200 nonsegmental vitiligo patients and 208 age/gender-matched healthy subjects were genotyped for rs1043618, rs1061581, and rs2227956 variants by PCR-RFLP.
      Results: Variants rs1043618 and rs1061581 were not associated with vitiligo susceptibility. On the other hand, the rs2227956 C allele and TC genotype were associated with protection against vitiligo. A similar effect was observed for the GAC haplotype. Any of the aforementioned HSP70 gene variants were associated with the clinical characteristics of vitiligo.
      Conclusion: Our findings suggest that the HSPA1L rs2227956 gene variant might influence the susceptibility to vitiligo. Being the first study of HSP70 gene variants in vitiligo, further research is encouraged to corroborate these results.
      (© 2022 the International Society of Dermatology.)
    • References:
      Seneschal J, Boniface K, D'Arino A, Picardo M. An update in vitiligo pathogenesis. Pigment Cell Melanoma Res. 2021;34:236-43.
      Ezzedine K, Lim HW, Suzuki T, Katayama I, Hamzavi I, Lan CCE, et al. Revised classification/nomenclature of vitiligo and related issues: the vitiligo global issues consensus conference. Pigment Cell Melanoma Res. 2012;25:E1-E13.
      Frisoli ML, Essien K, Harris JE. Vitiligo: mechanisms of pathogenesis and treatment. Ann Rev Immunol. 2020;38:621-48.
      Mosenson JA, Flood K, Klarquist J, Eby JM, Koshoffer A, Boissy RE, et al. Preferential secretion of inducible HSP70 by vitiligo melanocyte under stress. Pigment Cell Melanoma Res. 2014;27:209-20.
      Mosenson JA, Eby JM, Hernandez C, Le Poole IC. A central role for inducible heat-shock protein 70 in autoimmune vitiligo. Exp Dermatol. 2013;22:566-9.
      Tukaj S. Heat shock protein 70 as a double agent acting inside and outside the cell: insights into autoimmunity. Int J Mol Sci. 2020;21:5298.
      Henning SW, Fernandez MF, Mahon JP, Duff R, Azarafrooz F, Guevara-Patiño JA, et al. HSP70iQ435A-encoding DNA repigments vitiligo lesions in Sinclair swine. J Invest Dermatol. 2018;138:2531-9.
      Boiocchi C, Osera C, Monti MC, Ferraro OE, Govoni S, Cuccia M, et al. Are Hsp70 protein expression and genetic polymorphism implicated in multiple sclerosis inflammation? J Neuroimmunol. 2014;268:84-8.
      Toumi A, Abida O, Ben-Ayed M, Masmoudi A, Turki H, Masmoudi H. Is there any relationship between polymorphisms of Heat Shock Protein 70 genes and pemphigous foliaceus? Immunol Lett. 2015;164:94-9.
      Brocchieri L, Conway de Macario E, Macario AJ. Hsp70 genes in the human genome: conservation and differentiation patterns predict a wide array of overlapping and specialized functions. BMC Evol Biol. 2008;8:19.
      He M, Guo H, Yang X, Zhang X, Zhou L, Cheng L, et al. Functional SNPs in HSPA1A gene predict risk of coronary heart diseases. PLoS One. 2009;4:e4851.
      Singh R, Kølvraa S, Bross P, Jensen UB, Gregersen N, Tan Q, et al. Reduced heat shock response in human mononuclear cells during aging and its association with polymorphisms in HSP70 genes. Cell Stress Chaperones. 2006;11:208-15.
      Wang YP, Tang Z, Peng BK, Zhen Q, Zhou SL, Jin XF. Heat shock protein 70 polymorphisms in Chinese patients with Graves' disease. Genet Mol Res. 2015;14:18376-83.
      Vargas-Alarcón G, Londoño JD, Hernández-Pacheco G, Gamboa R, Castillo E, Pacheco-Tena C, et al. Heat shock protein 70 gene polymorphisms in Mexican patients with spondyloarthropathies. Ann Rheum Dis. 2002;61:48-51.
      Gustincich S, Manfioletti G, Del Sal G, et al. A fast method for high-quality genomic DNA extraction from whole human blood. Biotechniques. 1991;11(298-300):302.
      Shen J, Li Z, Chen J, Song Z, Zhou Z, Shi Y. SHEsisPlus, a toolset for genetic studies on polyploid species. Sci Rep. 2016;6:24095.
      Doss RW, El-Rifaie AA, Abdel-Wahab AM, et al. Heat shock protein-70 expression in vitiligo and its relation to the disease activity. Indian J Dermatol. 2016;61:408-12.
      Wang Y, Liu Y, Sun K, Wei Y, Fu L, Hou Z, et al. The differential neuroprotection of HSP70-hom gene single nucleotide polymorphisms: In vitro (neuronal hypoxic injury model) and in vivo (rat MCAO model) studies. Gene. 2019;710:354-62.
      Murshid A, Gong J, Calderwood SK. The role of heat shock proteins in antigen cross presentation. Front Immunol. 2012;3:63.
      The genotype-tissue expression project. Single-tissue eQTLs for chr6_31810495_G_A_b38. GTEx Analysis Release V8 (dbGaP Accession phs000424.v8.92). URL: https://gtexportal.org/home/snp/rs2227956 [accessed on 27 September 2022].
      Boiocchi C, Monti MC, Osera C, Mallucci G, Pistono C, Ferraro OE, et al. Heat shock protein 70-hom gene polymorphism and protein expression in multiple sclerosis. J Neuroimmunol. 2016;298:189-93.
      Fürnrohr BG, Wach S, Kelly JA, Haslbeck M, Weber CK, Stach CM, et al. Polymorphisms in the Hsp70 gene locus are genetically associated with systemic lupus erythematosus. Ann Rheum Dis. 2010;69:1983-9.
      Ochoa-Ramírez LA, Becerra-Loaiza DS, Díaz-Camacho SP, Muñoz-Estrada VF, Ríos-Burgueño ER, Prado-Montes de Oca E, et al. Association of human beta-defensin 1 gene polymorphisms with nonsegmental vitiligo. Clin Exp Dermatol. 2019;44:277-82.
      Ochoa-Ramírez LA, Díaz-Camacho SP, Becerra-Loaiza DS, Verdugo-Nieto L, Muñoz-Estrada VF, Servín-Vázquez LA, et al. Catalase but not vitamin D receptor gene polymorphisms are associated with nonsegmental vitiligo in Northwestern Mexicans. Int J Dermatol. 2019;58:1264-9.
    • Accession Number:
      0 (HSP70 Heat-Shock Proteins)
    • Publication Date:
      Date Created: 20221108 Date Completed: 20230119 Latest Revision: 20230222
    • Publication Date:
      20230223
    • Accession Number:
      10.1111/ijd.16487
    • Accession Number:
      36345598