Evaluation of keratin 1 gene expression and its single nucleotide polymorphism (rs14024) in systemic sclerosis patients

Abstract Background Systemic sclerosis (SSc) is an inflammatory autoimmune disease characterized by vascular and skin damages. Keratins, main protein of keratinocyte, were shown to be involved in inflammatory responses. Since the skin inflammation is the common clinical presentation of the SSc patients, we evaluated the keratin 1 (KRT1) gene polymorphism, its expression, and their associations with the disease pathogenesis. Material and methods Genomic DNA obtained from whole blood samples of 504 SSc patients and 498 controls. PCR-SSP was carried out to clarify the rs14024 polymorphism of KRT1 gene. Total RNA was extracted from 51 PBMC samples (17 samples for each genotype) and cDNA was synthesized. Real-time PCR was carried out to measure the KRT1 expression. Results In our case-control study, we revealed that the rs14024 polymorphism of the KRT1 gene is significantly associated with SSc and could be consider as a genetic susceptible risk factor for SSc development. Our data documented that the CT genotype of the rs14024 was more frequent in SSc patients than that in the healthy control group (P = 0.01, 1.37 (1.07–1.76)). Our analysis showed no significant differences in terms of gene expression between SSc patients and healthy individuals (6.30 ± 1.16 vs 6.07 ± 1.23, P = 0.33). Furthermore, none of the genotypes showed significant differences in terms of gene expression between SSc patients and healthy controls. No significant association was reported between the SNP and clinical features. Conclusion Determine the genetic susceptible risk factors such as KRT1 gene lead to identify individuals with potential genetic background and high risk for SSc development. These data lead us to a better diagnose and treatment approaches such as gene therapy for autoimmune disorders including SSc disease.