Association of glutathione S-transferase omega polymorphism and spinocerebellar ataxia type 2.
作者： Luis E Almaguer-Mederos , Dennis Almaguer-Gotay , Raúl Aguilera-Rodríguez , Yanetza González-Zaldívar , Dany Cuello-Almarales
DOI: 10.1016/J.JNS.2016.11.075
关键词:
摘要: Abstract Background Spinocerebellar ataxia type 2 is a neurodegenerative disorder caused by CAG repeat expansion in ATXN2 gene. There high clinical variability among affected patients suggesting the occurring of modifier genes influencing phenotype. Objective The objective to assess association GSTO1 rs4925 and GSTO2 rs2297235 SNPs on phenotype SCA2 patients. Methods A case-control study was performed sample 120 Cuban 100 healthy subjects. Age at onset, 60° Maximal Saccade Velocity SARA score were used as markers. determined PCR/RFLP. Results Distribution alleles genotypes nearly equal between control group not associated markers "G" allele "AG" genotype differed significantly controls. Symptomatic individuals had 2.29-fold higher chance carrying least one than controls (OR=2.29, 95% CI: 1.29–4.04). age onset (p=0.037) but or Conclusion polymorphism SCA2. Meanwhile, failed show any with markers, exception potential disease onset.
sci-hub.se 参考文章(22)
LE Almaguer-Mederos, R Aguilera Rodríguez, Y González Zaldivar, D Almaguer Gotay, D Cuello Almarales, J Laffita Mesa, Y Vázquez Mojena, P Zayas Feria, G Auburger, S Gispert, L Velásquez Pérez, Estimation of survival in spinocerebellar ataxia type 2 Cuban patients Clinical Genetics. ,vol. 83, pp. 293- 294 ,(2013) , 10.1111/J.1399-0004.2012.01902.X
Philip G. Board, The omega-class glutathione transferases: structure, function, and genetics. Drug Metabolism Reviews. ,vol. 43, pp. 226- 235 ,(2011) , 10.3109/03602532.2011.561353
Polina Egorova, Elena Popugaeva, Ilya Bezprozvanny, Disturbed calcium signaling in spinocerebellar ataxias and Alzheimer’s disease Seminars in Cell & Developmental Biology. ,vol. 40, pp. 127- 133 ,(2015) , 10.1016/J.SEMCDB.2015.03.010
D. Almaguer-Gotay, L.E. Almaguer-Mederos, R. Aguilera-Rodríguez, A. Estupiñán-Rodríguez, Y. González-Zaldivar, D. Cuello-Almarales, J.M. Laffita-Mesa, Y. Vázquez-Mojena, Role of glutathione S-transferases in the spinocerebellar ataxia type 2 clinical phenotype Journal of the Neurological Sciences. ,vol. 341, pp. 41- 45 ,(2014) , 10.1016/J.JNS.2014.03.045
Georges Imbert, Frédéric Saudou, Gaël Yvert, Didier Devys, Yvon Trottier, Jean-Marie Garnier, Chantal Weber, Jean-Louis Mandel, Gëraldine Cancel, Nacer Abbas, Alexandra Dürr, Olivier Didierjean, Giovanni Stevanin, Yves Agid, Alexis Brice, Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats Nature Genetics. ,vol. 14, pp. 285- 291 ,(1996) , 10.1038/NG1196-285
Udo Rüb, Ludger Schöls, Henry Paulson, Georg Auburger, Pawel Kermer, Joanna C. Jen, Kay Seidel, Horst-Werner Korf, Thomas Deller, Clinical features, neurogenetics and neuropathology of the polyglutamine spinocerebellar ataxias type 1, 2, 3, 6 and 7. Progress in Neurobiology. ,vol. 104, pp. 38- 66 ,(2013) , 10.1016/J.PNEUROBIO.2013.01.001
Biswanath Chattopadhyay Biswanath Chattopadhyay, Subho Ghosh Subho Ghosh, PK Gangopadhyay, SK Das, T Roy, KK Sinha, DK Jha, SC Mukherjee, Ambar Chakraborty Ambar Chakraborty, BS Singhal, AK Bhattacharya, NP Bhattacharyya, Modulation of age at onset in Huntington's disease and spinocerebellar ataxia type 2 patients originated from eastern India. Neuroscience Letters. ,vol. 345, pp. 93- 96 ,(2003) , 10.1016/S0304-3940(03)00436-1
Yi-Ju Li, William K. Scott, Ling Zhang, Ping-I. Lin, Sofia A. Oliveira, Tara Skelly, Maurali P. Doraiswamy, Kathleen A. Welsh-Bohmer, Eden R. Martin, Jonathan L. Haines, Margaret A. Pericak-Vance, Jeffery M. Vance, Revealing the role of glutathione S-transferase omega in age-at-onset of Alzheimer and Parkinson diseases. Neurobiology of Aging. ,vol. 27, pp. 1087- 1093 ,(2006) , 10.1016/J.NEUROBIOLAGING.2005.05.013
LE Almaguer-Mederos, NS Falcón, YR Almira, YG Zaldivar, DC Almarales, EM Góngora, MP Herrera, KE Batallán, RR Armiñán, MV Manresa, GS Cruz, J Laffita-Mesa, TM Cyuz, V Chang, G Auburger, S Gispert, LV Pérez, Estimation of the age at onset in spinocerebellar ataxia type 2 Cuban patients by survival analysis. Clinical Genetics. ,vol. 78, pp. 169- 174 ,(2009) , 10.1111/J.1399-0004.2009.01358.X
Toshiko Tanaka-Kagawa, Hideto Jinno, Tatsuya Hasegawa, Yuko Makino, Yoshiyuki Seko, Nobumitsu Hanioka, Masanori Ando, Functional characterization of two variant human GSTO 1-1s (Ala140Asp and Thr217Asn). Biochemical and Biophysical Research Communications. ,vol. 301, pp. 516- 520 ,(2003) , 10.1016/S0006-291X(02)03066-8