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Contribution of Polymorphism in PPARα Untranslated Region to The Development of Axial Spondyloarthritis

Yıl 2020, , 55 - 64, 25.06.2020
https://doi.org/10.37094/adyujsci.650677

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.

Destekleyen Kurum

Munzur University Health Faculty Research Budget

Proje Numarası

2017-DT

Teşekkür

This study was supported financially by Munzur University Health Faculty Research Budget (2017-DT).

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.
  • [9] Sieper, J., Poddubnyy, D., Axial spondyloarthritis, The Lancet, 390, 73-84, 2017.
  • [10] Barlow, J., Wright, C., Williams, B., Keat, A., Work disability among people with ankylosing spondylitis, Arthritis Care & Research: Official Journal of The American College of Rheumatology, 45, 424-429, 2001.
  • [11] Ramonda, R., Marchesoni, A., Carletto, A., Bianchi, G., Cutolo, M., Ferraccioli, G., et al., Patient-reported impact of spondyloarthritis on work disability and working life: the ATLANTIS survey, Arthritis Research & Therapy, 18, 78, 2016.
  • [12] Behar, V.M., Dougados, M., Etcheto, A., Kreis, S., Fabre, S., Hudry, C., et al., Diagnostic delay in axial spondyloarthritis: A cross-sectional study of 432 patients, Joint Bone Spine, 84, 467-471, 2017.
  • [13] Redeker, I., Callhoff, J., Hoffmann, F., Haibel, H., Sieper, J., Zink, A., et al., Determinants of diagnostic delay in axial spondyloarthritis: an analysis based on linked claims and patient-reported survey data, Rheumatology, 58(9), 1634-1638, 2019.
  • [14] Yi, E., Ahuja, A., Rajput, T., George, A.T., Park, Y., Clinical economic and humanistic burden associated with delayed diagnosis of Axial Spondyloarthritis: A Systematic Review, Rheumatology Therapy, 7, 65–87, 2020.
  • [15] Nie, A., Wang, C., Song, Y., Xie, X., Yang, H., Chen, H., Prevalence and factors associated with disturbed sleep in outpatients with ankylosing spondylitis, Clinical Rheumatology, 37, 2161-2168, 2018.
  • [16] Zhang, L., Zhang, Y.J., Chen, J., Huang, X.L., Fang, G.S., Yang, L.J., et al., The association of HLA-B27 and Klebsiella pneumoniae in ankylosing spondylitis: A systematic review, Microbial Pathogenesis, 117, 49-54, 2018.
  • [17] Braun, J., Sieper, J., Ankylosing spondylitis, The Lancet, 369, 1379-90, 2007.
  • [18] Serrano, P., Navarro-Compán, V., Rodríguez, S., Fernández, M., Zarco, P., de Miguel, E., SAT0419 Similarities and differences between HLA B27 positive and HLA B27 negative spondyloarthritis: results from the esperanza cohort, Annals of The Rheumatic Disease, 76(2), 930, 2017.
  • [19] Wang, R., Gabriel, S.E., Ward, M.M., Progression of nonradiographic axial spondyloarthritis to ankylosing spondylitis: a population‐based cohort study, Arthritis & Rheumatology, 68, 1415-1421, 2016.
  • [20] Ruscica, M., Busnelli, M., Runfola, E., Corsini, A., Sirtori, C.R., Impact of PPAR-alpha polymorphisms-the case of metabolic disorders and atherosclerosis, Int. J. Mol. Sci., 20(18), 4378, 2019.
  • [21] Sergeeva, E.G., Berkovich, O.A., Ionova, Z.I., Zaraisky, M.I., Baranova, E.I., L162v Polymorphism of Par-Α gene, A603g polymorphism of tissue factor gene and risk of coronary heart disease in Russian population, Journal of Bioinformatics and Diabetes, 1(4), 1-11, 2019.
  • [22] Rashid, A., Jafar, S., Yaqub, R.K., Role of peroxisome proliferator-activated receptor (PPAR)-α gene in Dyslipidemia, Rawal Medical Journal, 45(1), 54-57, 2020.
  • [23] Dhaini, H.R., Daher, Z., Genetic polymorphisms of PPAR genes and human cancers: evidence for gene–environment interactions, Journal of Environmental Science and Health, 37(3), 146-179, 2019.
  • [24] Dong, C., Zhou, H., Shen, C., Yu, L.G., Ding, Y., Zhang, Y.H., et al., Role of peroxisome proliferator-activated receptors gene polymorphisms in type 2 diabetes and metabolic syndrome, World Journal of Diabetes, 6(4), 654-661, 2015.
  • [25] Andrulionytė, L., Kuulasmaa, T., Chiasson, J.L., Laakso, M., Single Nucleotide Polymorphisms of the Peroxisome Proliferator–Activated Receptor-α Gene (PPARA) Influence the Conversion from Impaired Glucose Tolerance to Type 2 Diabetes: The STOP-NIDDM Trial, Diabetes, 56, 1181-1186, 2007.
  • [26] Qian, Y., Li, P., Zhang, J., Shi, Y., Chen, K., Yang, J., et al., Association between peroxisome proliferator-activated receptor-alpha, delta, and gamma polymorphisms and risk of coronary heart disease: A case–control study and meta-analysis, Medicine, 95(32), e4299, 1-9, 2016.
  • [27] Fan, W., Shen, C., Wu, M., Zhou, Z.Y., Guo, Z.R., Association and interaction of PPARα, δ, and γ gene polymorphisms with low-density lipoprotein-cholesterol in a Chinese Han population, Genetic Testing and Molecular Biomarkers, 19, 379-386, 2015.
  • [28] Sher, T., Yi, H.F., McBride, O.W., Gonzalez, F.J., cDNA cloning chromosomal mapping and functional characterization of the human peroxisome proliferator activated receptor, Biochemistry, 32, 5598-5604, 1993.
  • [29] Desvergne, B., Wahli, W., Peroxisome proliferator-activated receptors: nuclear control of metabolism, Endocrine Reviews, 20, 649-688, 1999.
  • [30] Devchand, P.R., Keller, H., Peters, J.M., Vazquez, M., Gonzalez, F.J., Wahli, W., The PPARα–leukotriene B4 pathway to inflammation control, Nature, 384(39), 39-43 ,1996.
Yıl 2020, , 55 - 64, 25.06.2020
https://doi.org/10.37094/adyujsci.650677

Öz

Proje Numarası

2017-DT

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.
  • [9] Sieper, J., Poddubnyy, D., Axial spondyloarthritis, The Lancet, 390, 73-84, 2017.
  • [10] Barlow, J., Wright, C., Williams, B., Keat, A., Work disability among people with ankylosing spondylitis, Arthritis Care & Research: Official Journal of The American College of Rheumatology, 45, 424-429, 2001.
  • [11] Ramonda, R., Marchesoni, A., Carletto, A., Bianchi, G., Cutolo, M., Ferraccioli, G., et al., Patient-reported impact of spondyloarthritis on work disability and working life: the ATLANTIS survey, Arthritis Research & Therapy, 18, 78, 2016.
  • [12] Behar, V.M., Dougados, M., Etcheto, A., Kreis, S., Fabre, S., Hudry, C., et al., Diagnostic delay in axial spondyloarthritis: A cross-sectional study of 432 patients, Joint Bone Spine, 84, 467-471, 2017.
  • [13] Redeker, I., Callhoff, J., Hoffmann, F., Haibel, H., Sieper, J., Zink, A., et al., Determinants of diagnostic delay in axial spondyloarthritis: an analysis based on linked claims and patient-reported survey data, Rheumatology, 58(9), 1634-1638, 2019.
  • [14] Yi, E., Ahuja, A., Rajput, T., George, A.T., Park, Y., Clinical economic and humanistic burden associated with delayed diagnosis of Axial Spondyloarthritis: A Systematic Review, Rheumatology Therapy, 7, 65–87, 2020.
  • [15] Nie, A., Wang, C., Song, Y., Xie, X., Yang, H., Chen, H., Prevalence and factors associated with disturbed sleep in outpatients with ankylosing spondylitis, Clinical Rheumatology, 37, 2161-2168, 2018.
  • [16] Zhang, L., Zhang, Y.J., Chen, J., Huang, X.L., Fang, G.S., Yang, L.J., et al., The association of HLA-B27 and Klebsiella pneumoniae in ankylosing spondylitis: A systematic review, Microbial Pathogenesis, 117, 49-54, 2018.
  • [17] Braun, J., Sieper, J., Ankylosing spondylitis, The Lancet, 369, 1379-90, 2007.
  • [18] Serrano, P., Navarro-Compán, V., Rodríguez, S., Fernández, M., Zarco, P., de Miguel, E., SAT0419 Similarities and differences between HLA B27 positive and HLA B27 negative spondyloarthritis: results from the esperanza cohort, Annals of The Rheumatic Disease, 76(2), 930, 2017.
  • [19] Wang, R., Gabriel, S.E., Ward, M.M., Progression of nonradiographic axial spondyloarthritis to ankylosing spondylitis: a population‐based cohort study, Arthritis & Rheumatology, 68, 1415-1421, 2016.
  • [20] Ruscica, M., Busnelli, M., Runfola, E., Corsini, A., Sirtori, C.R., Impact of PPAR-alpha polymorphisms-the case of metabolic disorders and atherosclerosis, Int. J. Mol. Sci., 20(18), 4378, 2019.
  • [21] Sergeeva, E.G., Berkovich, O.A., Ionova, Z.I., Zaraisky, M.I., Baranova, E.I., L162v Polymorphism of Par-Α gene, A603g polymorphism of tissue factor gene and risk of coronary heart disease in Russian population, Journal of Bioinformatics and Diabetes, 1(4), 1-11, 2019.
  • [22] Rashid, A., Jafar, S., Yaqub, R.K., Role of peroxisome proliferator-activated receptor (PPAR)-α gene in Dyslipidemia, Rawal Medical Journal, 45(1), 54-57, 2020.
  • [23] Dhaini, H.R., Daher, Z., Genetic polymorphisms of PPAR genes and human cancers: evidence for gene–environment interactions, Journal of Environmental Science and Health, 37(3), 146-179, 2019.
  • [24] Dong, C., Zhou, H., Shen, C., Yu, L.G., Ding, Y., Zhang, Y.H., et al., Role of peroxisome proliferator-activated receptors gene polymorphisms in type 2 diabetes and metabolic syndrome, World Journal of Diabetes, 6(4), 654-661, 2015.
  • [25] Andrulionytė, L., Kuulasmaa, T., Chiasson, J.L., Laakso, M., Single Nucleotide Polymorphisms of the Peroxisome Proliferator–Activated Receptor-α Gene (PPARA) Influence the Conversion from Impaired Glucose Tolerance to Type 2 Diabetes: The STOP-NIDDM Trial, Diabetes, 56, 1181-1186, 2007.
  • [26] Qian, Y., Li, P., Zhang, J., Shi, Y., Chen, K., Yang, J., et al., Association between peroxisome proliferator-activated receptor-alpha, delta, and gamma polymorphisms and risk of coronary heart disease: A case–control study and meta-analysis, Medicine, 95(32), e4299, 1-9, 2016.
  • [27] Fan, W., Shen, C., Wu, M., Zhou, Z.Y., Guo, Z.R., Association and interaction of PPARα, δ, and γ gene polymorphisms with low-density lipoprotein-cholesterol in a Chinese Han population, Genetic Testing and Molecular Biomarkers, 19, 379-386, 2015.
  • [28] Sher, T., Yi, H.F., McBride, O.W., Gonzalez, F.J., cDNA cloning chromosomal mapping and functional characterization of the human peroxisome proliferator activated receptor, Biochemistry, 32, 5598-5604, 1993.
  • [29] Desvergne, B., Wahli, W., Peroxisome proliferator-activated receptors: nuclear control of metabolism, Endocrine Reviews, 20, 649-688, 1999.
  • [30] Devchand, P.R., Keller, H., Peters, J.M., Vazquez, M., Gonzalez, F.J., Wahli, W., The PPARα–leukotriene B4 pathway to inflammation control, Nature, 384(39), 39-43 ,1996.
Toplam 30 adet kaynakça vardır.

Ayrıntılar

Birincil Dil İngilizce
Konular Yapısal Biyoloji
Bölüm Biyoloji
Yazarlar

Ekrem Akbulut 0000-0002-7526-9835

Metin Özgen Bu kişi benim 0000-0002-6842-2918

Proje Numarası 2017-DT
Yayımlanma Tarihi 25 Haziran 2020
Gönderilme Tarihi 25 Kasım 2019
Kabul Tarihi 18 Nisan 2020
Yayımlandığı Sayı Yıl 2020

Kaynak Göster

APA Akbulut, E., & Özgen, M. (2020). Contribution of Polymorphism in PPARα Untranslated Region to The Development of Axial Spondyloarthritis. Adıyaman University Journal of Science, 10(1), 55-64. https://doi.org/10.37094/adyujsci.650677
AMA Akbulut E, Özgen M. Contribution of Polymorphism in PPARα Untranslated Region to The Development of Axial Spondyloarthritis. ADYU J SCI. Haziran 2020;10(1):55-64. doi:10.37094/adyujsci.650677
Chicago Akbulut, Ekrem, ve Metin Özgen. “Contribution of Polymorphism in PPARα Untranslated Region to The Development of Axial Spondyloarthritis”. Adıyaman University Journal of Science 10, sy. 1 (Haziran 2020): 55-64. https://doi.org/10.37094/adyujsci.650677.
EndNote Akbulut E, Özgen M (01 Haziran 2020) Contribution of Polymorphism in PPARα Untranslated Region to The Development of Axial Spondyloarthritis. Adıyaman University Journal of Science 10 1 55–64.
IEEE E. Akbulut ve M. Özgen, “Contribution of Polymorphism in PPARα Untranslated Region to The Development of Axial Spondyloarthritis”, ADYU J SCI, c. 10, sy. 1, ss. 55–64, 2020, doi: 10.37094/adyujsci.650677.
ISNAD Akbulut, Ekrem - Özgen, Metin. “Contribution of Polymorphism in PPARα Untranslated Region to The Development of Axial Spondyloarthritis”. Adıyaman University Journal of Science 10/1 (Haziran 2020), 55-64. https://doi.org/10.37094/adyujsci.650677.
JAMA Akbulut E, Özgen M. Contribution of Polymorphism in PPARα Untranslated Region to The Development of Axial Spondyloarthritis. ADYU J SCI. 2020;10:55–64.
MLA Akbulut, Ekrem ve Metin Özgen. “Contribution of Polymorphism in PPARα Untranslated Region to The Development of Axial Spondyloarthritis”. Adıyaman University Journal of Science, c. 10, sy. 1, 2020, ss. 55-64, doi:10.37094/adyujsci.650677.
Vancouver Akbulut E, Özgen M. Contribution of Polymorphism in PPARα Untranslated Region to The Development of Axial Spondyloarthritis. ADYU J SCI. 2020;10(1):55-64.

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