Polymorphism of keratin 1 associates with systemic lupus erythematosus and systemic sclerosis in a south Chinese population

PLoS One. 2017 Oct 13;12(10):e0186409. doi: 10.1371/journal.pone.0186409. eCollection 2017.

Abstract

Both systemic lupus erythematosus (SLE) and systemic sclerosis (SSc) diseases are related to the genetic and environmental factors, causing damage to the skin. The mutations of keratin 1 gene (KRT1) were reported to associate with skin diseases. The single-nucleotide polymorphism (SNP, rs14024) and the indel polymorphism (cds-indel, rs267607656), consisting mostly of the common haplotypes and could be used for genotyping of KRT1. We used the PCR with sequence specific primers (PCR-SSP) to determine the genotype of KRT1 in 164 SLE, 99 SSc patients, and 418 healthy controls. The results showed that the mutant with G at SNP rs14024 was associated with the high risk to SLE (p = 6.48×10-5) and SSc (p = 8.75×10-5), while the deletion allele at rs267607656 was associated with the low risk to SSc (p = 4.89×10-4) comparing to the normal controls. Haplogenotype, Del-/MU+ was associated with high susceptibility to SLE (OR = 1.87, p = 0.001) and SSc (OR = 2.29, p = 2.34×10-4). In contrast, the Haplogenotype Del+/MU- was associated with resistance to SLE (OR = 0.35, p = 6.24×10-5) and SSc (OR = 0.34, p = 0.001). This study demonstrates that the variations in KRT1 and the specific polymorphism of KRT1 in this Chinese Han population are associated with autoimmune diseases SLE and SSc. Typing KRT1 might be helpful to identify SLE and SSc patients.

MeSH terms

  • Adult
  • Asian People / genetics*
  • Base Sequence
  • Female
  • Haplotypes
  • Humans
  • Keratin-1 / genetics*
  • Lupus Erythematosus, Systemic / genetics*
  • Male
  • Polymorphism, Single Nucleotide*
  • Scleroderma, Systemic / genetics*

Substances

  • Keratin-1

Grants and funding

This work was supported in part by grant from the National Natural Science Foundation of China (Y. Zou, P.I., 81273265 and 81572562), and Hunan Science and Technology Project Foundation (Y. Zou, P.I., 2013FJ2005). The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.