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

• Published in: International journal of dermatology Vol. 62; no. 2; pp. 225 - 230
• Main Authors: Ochoa‐Ramírez, Luis Antonio, Díaz‐Camacho, Sylvia Paz, Mellado‐Corrales, Samantha Nohemí, Muñoz‐Estrada, Víctor Fernando, Ríos‐Tostado, Juan José, Sánchez‐Zazueta, Jorge Guillermo, Velarde‐Félix, Jesús Salvador
• Format: Journal Article
• Language: English
• Published: England Blackwell Publishing Ltd 01.02.2023
• Subjects: 5' Untranslated Regions; Alleles; Autoimmune diseases; Cellular stress response; Genetic diversity; Genetic Predisposition to Disease; Genetic variance; Genotype; Genotypes; Haplotypes; Heat shock proteins; HSP70 Heat-Shock Proteins - genetics; HSP70 Heat-Shock Proteins - metabolism; Hsp70 protein; Humans; Immune response; Melanocytes; Oxidative stress; Polymorphism, Restriction Fragment Length; Polymorphism, Single Nucleotide; Skin diseases; Vitiligo; Vitiligo - genetics
• ISSN: 0011-9059; 1365-4632; 1365-4632
• DOI: 10.1111/ijd.16487

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.