Contribution of Polymorphism in PPARα Untranslated Region to The Development of Axial Spondyloarthritis
Öz
The study aimed to contribute to the overall understanding of axial spondyloarthritis by investigating the polymorphism in 5’ untranslated region of peroxisome proliferator-activated receptor alpha gene in patients. The study included 194 patients and 197 controls recruited. The DNA obtained from the samples was genotyped by multiplex Polymerase Chain Reaction and then Matrix-Assisted Laser Desorption Ionization- Time of Flight Mass Spectrometry. Data were analyzed by logistic regression. Five polymorphic regions analyzed in this study, three of the sites were associated with disease risk. An allele in the rs1800204 polymorphic region (p < 0.001), C allele in the rs4253657 polymorphic region (p = 0.040) and C allele in the rs13909022 polymorphic region (p = 0.005) were associated with disease risk. The association of disease risk could not be detected with G and A alleles in the rs881740 (p = 0.456) and rs115640476 (p = 0.674) polymorphic regions, respectively. PPARα 5' untranslated region polymorphism, which is shown to be associated with disease risk, is thought to contribute to the elucidation of the molecular mechanism of the disease. In axial spondyloarthritis, studying the effects of genetic changes in PPARα on other genes with which it interacts will contribute to the full understanding of the molecular mechanism of the disease.
Anahtar Kelimeler
Destekleyen Kurum
Proje Numarası
Teşekkür
Kaynakça
- [1] Sharma, S.M., Choi, D., Planck, S.R., Harrington, C.A., Austin, C.R., Lewis, J.A., et al., Insights in to the pathogenesis of axial spondyloarthropathy based on gene expression profiles, Arthritis Research & Therapy, 11(6), R168, 1-9, 2009.
- [2] Dean, L.E., Jones, G.T., MacDonald, A.G., Downham, C., Sturrock, R.D., Macfarlane, G. J., Global prevalence of ankylosing spondylitis, Rheumatology, 53, 650-657, 2014.
- [3] Dubrac, S., Schmuth, M., PPAR-alpha in cutaneous inflammation, Dermato-Endocrinology, 3, 23-26, 2011.
- [4] Yessoufou, A., Wahli, W., Multifaceted roles of peroxisome proliferator-activated receptors (PPARs) at the cellular and whole organism levels, Swiss Med Wkly, 140, w13071, 2010.
- [5] Ruan, W.F., Xie, J.T., Jin, Q., Wang, W.D., Ping, A.S., The diagnostic and prognostic role of interleukin 12B and Interleukin 6R gene polymorphism in patients with ankylosing spondylitis, JCR: Journal of Clinical Rheumatology, 24,18-24, 2018.
- [6] Wordsworth, B.P., Cohen, C.J., Vecellio, M., Quantifying the genetic risk for the development of axial spondyloarthropathy: could this become a diagnostic tool?, Current Opinion in Rheumatology, 30, 319-323, 2018.
- [7] Fabris, M., Quartuccio, L., Fabro, C., Sacco, S., Lombardi, S., Ramonda, R., et al., The-308 TNFα and the-174 IL-6 promoter polymorphisms associate with effective anti-TNFα treatment in seronegative spondyloarthritis, The Pharmacogenomics Journal, 16, 238, 2016.
- [8] Chatterjee, S., Pal, J.K., Role of 5′‐and 3′‐untranslated regions of mRNAs in human diseases, Biology of The Cell, 101, 251-262, 2009.
Ayrıntılar
Birincil Dil
İngilizce
Konular
Yapısal Biyoloji
Bölüm
Araştırma Makalesi
Yazarlar
Ekrem Akbulut
*
0000-0002-7526-9835
Türkiye
Metin Özgen
Bu kişi benim
0000-0002-6842-2918
Türkiye
Yayımlanma Tarihi
25 Haziran 2020
Gönderilme Tarihi
25 Kasım 2019
Kabul Tarihi
18 Nisan 2020
Yayımlandığı Sayı
Yıl 2020 Cilt: 10 Sayı: 1
Cited By
The role of A268V exon-7 polymorphism of PPARA in development of axial spondyloarthritis
Turkish Journal of Biochemistry
https://doi.org/10.1515/tjb-2021-0086