Journal
GENE
Volume 527, Issue 2, Pages 435-439Publisher
ELSEVIER
DOI: 10.1016/j.gene.2013.06.074
Keywords
Systemic lupus erythematosus; Serine/threonine protein kinase 17A; STK17A; Single nucleotide polymorphisms
Categories
Funding
- CNPq
- CAPES
- FACEPE
- European Project Talents for an International House within the framework of the 7th Research & Development Framework Programme PEOPLE - Marie Curie Actions - COFUND (Co-Funding of Regional, National and International Programmes)
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Systemic lupus erythematosus (SLE) is an autoimmune disorder with several clinical manifestations. SLE etiology has a strong genetic component, which plays a key role in disease's predisposition, as well as participation of environmental factors, such and UV light exposure. In this regard, we investigated whether polymorphisms in STK17A, a DNA repair related gene, encoding for serine/threonine-protein kinase 17A, are associated with SLE susceptibility. A total of 143 SLE patients and 177 healthy controls from Southern Brazil were genotyped for five STK17A TagSNPs. Our results indicated association of rs7805969 SNP (A and G/A genotype, OR = 1.40 and OR = 1.73, respectively) with SLE predisposition and the following clinical manifestations: arthritis, cutaneous and immunological alterations. When analyzing haplotypes distribution, we found association between TGGTC, TAGTC and AAGAT haplotypes and risk to develop SLE. When considering clinical manifestations, the haplotypes TGGTT and TAGTC were associated with protection against cutaneous alterations and the haplotype TAGTC to hematological alterations. We also observed association between SLE clinical manifestations and ethnicity, with the European-derived patients being more susceptible to cutaneous and hematological alterations. (C) 2013 Elsevier B.V. All rights reserved.
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