Advertisement

Lack of Association of the rs11655081 ARSG Gene with Blepharospasm

  • Vasileios Siokas
  • Dimitrios Kardaras
  • Athina-Maria Aloizou
  • Ioannis Asproudis
  • Konstadinos G. Boboridis
  • Eleni Papageorgiou
  • Demetrios A. Spandidos
  • Aristidis Tsatsakis
  • Evangelia E. Tsironi
  • Efthimios DardiotisEmail author
Article
  • 25 Downloads

Abstract

Blepharospasm (BSP) is a sub-phenotype of focal dystonia. A few genetic risk factors are considered to be implicated in the risk of developing BSP. There is recent evidence, based on results from GWAS and meta-analyses, to suggest that arylsulfatase G (ARSG), and more specifically rs11655081, is implicated in focal dystonia. The aim of the present study was to evaluate the effect of rs11655081 ARSG on BSP. A Greek cohort, which consisted of 206 BSP patients and an equal number of healthy controls, was genotyped for rs11655081. Only a marginal trend for the association between rs11655081 and the risk of BSP was found in the over-dominant model of inheritance [odds ratio, OR (95% confidence interval, CI): 0.64 (0.38–1.07), p = 0.088]. It is rather unlikely that rs11655081 across ARSG is a major genetic risk contributor for BSP.

Keywords

ARSG Blepharospasm Focal dystonia Polymorphism SNP 

Notes

Compliance with Ethical Standards

The local ethics committee approved study’s protocol. All participants provided informed consent

Informed Consent

Informed consent was obtained from all individual participants included in the study.

Conflict of Interest

The authors declare that they have no conflict of interest.

Supplementary material

12031_2018_1255_MOESM1_ESM.docx (15 kb)
Supplementary Table 1 Allele and genotype frequencies of ARSG rs11655081 in BSP cases and in healthy controls. (DOCX 14 kb)

References

  1. Albanese A (2017) How many Dystonias? Clinical evidence. Front Neurol 8:18.  https://doi.org/10.3389/fneur.2017.00018 CrossRefPubMedPubMedCentralGoogle Scholar
  2. Albanese A, Bhatia K, Bressman SB, DeLong MR, Fahn S, Fung VSC, Hallett M, Jankovic J, Jinnah HA, Klein C, Lang AE, Mink JW, Teller JK (2013a) Phenomenology and classification of dystonia: a consensus update. Mov Disord 28:863–873.  https://doi.org/10.1002/mds.25475 CrossRefPubMedPubMedCentralGoogle Scholar
  3. Albanese A, Sorbo FD, Comella C, Jinnah HA, Mink JW, Post B, Vidailhet M, Volkmann J, Warner TT, Leentjens AFG, Martinez-Martin P, Stebbins GT, Goetz CG, Schrag A (2013b) Dystonia rating scales: critique and recommendations. Mov Disord 28:874–883.  https://doi.org/10.1002/mds.25579 CrossRefPubMedPubMedCentralGoogle Scholar
  4. Albanese A, Di Giovanni M, Lalli S (2018) Dystonia: diagnosis and management. Eur J Neurol 26:5–17.  https://doi.org/10.1111/ene.13762 CrossRefPubMedGoogle Scholar
  5. Balint B, Mencacci NE, Valente EM, Pisani A, Rothwell J, Jankovic J, Vidailhet M, Bhatia KP (2018) Dystonia. Nat Rev Dis Primers 4:25.  https://doi.org/10.1038/s41572-018-0023-6 CrossRefPubMedGoogle Scholar
  6. Cronin S, Berger S, Ding J, Schymick JC, Washecka N, Hernandez DG, Greenway MJ, Bradley DG, Traynor BJ, Hardiman O (2008) A genome-wide association study of sporadic ALS in a homogenous Irish population. Hum Mol Genet 17:768–774.  https://doi.org/10.1093/hmg/ddm361 CrossRefPubMedGoogle Scholar
  7. Dardiotis E, Paterakis K, Siokas V, Tsivgoulis G, Dardioti M, Grigoriadis S, Simeonidou C, Komnos A, Kapsalaki E, Fountas K, Hadjigeorgiou GM (2015) Effect of angiotensin-converting enzyme tag single nucleotide polymorphisms on the outcome of patients with traumatic brain injury. Pharmacogenet Genomics 25:485–490.  https://doi.org/10.1097/fpc.0000000000000161 CrossRefPubMedGoogle Scholar
  8. Dardiotis E, Siokas V, Zafeiridis T, Paterakis K, Tsivgoulis G, Dardioti M, Grigoriadis S, Simeonidou C, Deretzi G, Zintzaras E, Jagiella J, Hadjigeorgiou GM (2017) Integrins AV and B8 gene polymorphisms and risk for intracerebral hemorrhage in Greek and polish populations. NeuroMolecular Med 19:69–80.  https://doi.org/10.1007/s12017-016-8429-3 CrossRefPubMedGoogle Scholar
  9. Dardiotis E, Siokas V, Garas A, Paraskevaidis E, Kyrgiou M, Xiromerisiou G, Deligeoroglou E, Galazios G, Kontomanolis E, Spandidos D, Tsatsakis A, Daponte A (2018a) Genetic variations in the SULF1 gene alter the risk of cervical cancer and precancerous lesions. Oncol Lett 16:3833–3841.  https://doi.org/10.3892/ol.2018.9104 CrossRefPubMedPubMedCentralGoogle Scholar
  10. Dardiotis E, Siokas V, Sokratous M, Tsouris Z, Michalopoulou A, Andravizou A, Dastamani M, Ralli S, Vinceti M, Tsatsakis A, Hadjigeorgiou GM (2018b) Genetic polymorphisms in amyotrophic lateral sclerosis: evidence for implication in detoxification pathways of environmental toxicants. Environ Int 116:122–135.  https://doi.org/10.1016/j.envint.2018.04.008 CrossRefPubMedGoogle Scholar
  11. Defazio G, Abbruzzese G, Livrea P, Berardelli A (2004) Epidemiology of primary dystonia. Lancet Neurol 3:673–678.  https://doi.org/10.1016/s1474-4422(04)00907-x CrossRefPubMedGoogle Scholar
  12. Defazio G, Matarin M, Peckham EL, Martino D, Valente EM, Singleton A, Crawley A, Aniello MS, Brancati F, Abbruzzese G, Girlanda P, Livrea P, Hallett M, Berardelli A (2009) The TOR1A polymorphism rs1182 and the risk of spread in primary blepharospasm. Mov Disord 24:613–616.  https://doi.org/10.1002/mds.22471 CrossRefPubMedPubMedCentralGoogle Scholar
  13. Groen JL, Ritz K, Velseboer DC, Aramideh M, van Hilten JJ, Boon AJW, van de Warrenburg BP, Baas F, Tijssen MAJ (2012) Association of BDNF Met66Met polymorphism with arm tremor in cervical dystonia. Mov Disord 27:796–797.  https://doi.org/10.1002/mds.24922 CrossRefPubMedGoogle Scholar
  14. Hallett M (2015) The dystonias: a heterogeneous collection. Eur J Neurol 22:741–742.  https://doi.org/10.1111/ene.12526 CrossRefPubMedGoogle Scholar
  15. Hallett M, Evinger C, Jankovic J, Stacy M (2008) Update on blepharospasm: report from the BEBRF international workshop. Neurology 71:1275–1282.  https://doi.org/10.1212/01.wnl.0000327601.46315.85 CrossRefPubMedPubMedCentralGoogle Scholar
  16. Katsarou MS, Papasavva M, Latsi R, Toliza I, Gkaros AP, Papakonstantinou S, Gatzonis S, Mitsikostas DD, Kovatsi L, Isotov BN, Tsatsakis AM, Drakoulis N (2018) Population-based analysis of cluster headache-associated genetic polymorphisms. J Mol Neurosci 65:367–376.  https://doi.org/10.1007/s12031-018-1103-5 CrossRefPubMedGoogle Scholar
  17. Lee RM, Chowdhury HR, Hyer JN, Smith HB, Jones CA (2013) Patient-reported benefit from botulinum toxin treatment for essential blepharospasm: using 2 assessment scales. Ophthal Plast Reconstr Surg 29:196–197.  https://doi.org/10.1097/IOP.0b013e3182805a2a CrossRefPubMedGoogle Scholar
  18. Lohmann K, Klein C (2017) Update on the genetics of dystonia. Curr Neurol Neurosci Rep 17:26.  https://doi.org/10.1007/s11910-017-0735-0 CrossRefPubMedGoogle Scholar
  19. Lohmann K, Schmidt A, Schillert A, Winkler S, Albanese A, Baas F, Bentivoglio AR, Borngräber F, Brüggemann N, Defazio G, del Sorbo F, Deuschl G, Edwards MJ, Gasser T, Gómez-Garre P, Graf J, Groen JL, Grünewald A, Hagenah J, Hemmelmann C, Jabusch HC, Kaji R, Kasten M, Kawakami H, Kostic VS, Liguori M, Mir P, Münchau A, Ricchiuti F, Schreiber S, Siegesmund K, Svetel M, Tijssen MAJ, Valente EM, Westenberger A, Zeuner KE, Zittel S, Altenmüller E, Ziegler A, Klein C (2014) Genome-wide association study in musician’s dystonia: a risk variant at the arylsulfatase G locus? Mov Disord 29:921–927.  https://doi.org/10.1002/mds.25791 CrossRefPubMedGoogle Scholar
  20. Misbahuddin A, Placzek MR, Chaudhuri KR, Wood NW, Bhatia KP, Warner TT (2002) A polymorphism in the dopamine receptor DRD5 is associated with blepharospasm. Neurology 58:124–126CrossRefGoogle Scholar
  21. Mok KY, Schneider SA, Trabzuni D, Stamelou M, Edwards M, Kasperaviciute D, Pickering-Brown S, Silverdale M, Hardy J, Bhatia KP (2014) Genomewide association study in cervical dystonia demonstrates possible association with sodium leak channel. Mov Disord 29:245–251.  https://doi.org/10.1002/mds.25732 CrossRefPubMedGoogle Scholar
  22. Nibbeling E, Schaake S, Tijssen MA, Weissbach A, Groen JL, Altenmüller E, Verbeek DS, Lohmann K (2015) Accumulation of rare variants in the arylsulfatase G (ARSG) gene in task-specific dystonia. J Neurol 262:1340–1343.  https://doi.org/10.1007/s00415-015-7718-3 CrossRefPubMedGoogle Scholar
  23. Ohlei O, Dobricic V, Lohmann K, Klein C, Lill CM, Bertram L (2018) Field synopsis and systematic meta-analyses of genetic association studies in isolated dystonia. Parkinsonism Relat Disord.  https://doi.org/10.1016/j.parkreldis.2018.07.018
  24. Sardiello M, Annunziata I, Roma G, Ballabio A (2005) Sulfatases and sulfatase modifying factors: an exclusive and promiscuous relationship. Hum Mol Genet 14:3203–3217.  https://doi.org/10.1093/hmg/ddi351 CrossRefPubMedGoogle Scholar
  25. Siokas V, Dardiotis E, Sokolakis T, Kotoula M, Tachmitzi SV, Chatzoulis DZ, Almpanidou P, Stefanidis I, Hadjigeorgiou GM, Tsironi EE (2017a) Plasminogen activator inhibitor type-1 tag single-nucleotide polymorphisms in patients with diabetes mellitus type 2 and diabetic retinopathy. Curr Eye Res 42:1048–1053.  https://doi.org/10.1080/02713683.2016.1276197 CrossRefPubMedGoogle Scholar
  26. Siokas V, Dardiotis E, Tsironi EE, Tsivgoulis G, Rikos D, Sokratous M, Koutsias S, Paterakis K, Deretzi G, Hadjigeorgiou GM (2017b) The role of TOR1A polymorphisms in dystonia: a systematic review and meta-analysis. PLoS One 12:e0169934.  https://doi.org/10.1371/journal.pone.0169934 CrossRefPubMedPubMedCentralGoogle Scholar
  27. Siokas V, Fotiadou A, Dardiotis E, Kotoula MG, Tachmitzi SV, Chatzoulis DZ, Zintzaras E, Stefanidis I, Tsironi EE (2017c) SLC2A1 tag SNPs in Greek patients with diabetic retinopathy and nephropathy. Ophthalmic Res.  https://doi.org/10.1159/000480241
  28. Siokas V, Kardaras D, Aloizou AM, Asproudis I, Boboridis KG, Papageorgiou E, Hadjigeorgiou GM, Tsironi EE, Dardiotis E (2018) BDNF rs6265 (Val66Met) polymorphism as a risk factor for blepharospasm. NeuroMolecular Med.  https://doi.org/10.1007/s12017-018-8519-5
  29. Skol AD, Scott LJ, Abecasis GR, Boehnke M (2006) Joint analysis is more efficient than replication-based analysis for two-stage genome-wide association studies. Nat Genet 38:209–213.  https://doi.org/10.1038/ng1706 CrossRefPubMedGoogle Scholar
  30. Sole X, Guino E, Valls J, Iniesta R, Moreno V (2006) SNPStats: a web tool for the analysis of association studies. Bioinformatics 22:1928–1929.  https://doi.org/10.1093/bioinformatics/btl268 CrossRefPubMedGoogle Scholar
  31. Theuns J, Verstraeten A, Sleegers K, Wauters E, Gijselinck I, Smolders S, Crosiers D, Corsmit E, Elinck E, Sharma M, Kruger R, Lesage S, Brice A, Chung SJ, Kim MJ, Kim YJ, Ross OA, Wszolek ZK, Rogaeva E, Xi Z, Lang AE, Klein C, Weissbach A, Mellick GD, Silburn PA, Hadjigeorgiou GM, Dardiotis E, Hattori N, Ogaki K, Tan EK, Zhao Y, Aasly J, Valente EM, Petrucci S, Annesi G, Quattrone A, Ferrarese C, Brighina L, Deutschlander A, Puschmann A, Nilsson C, Garraux G, LeDoux MS, Pfeiffer RF, Boczarska-Jedynak M, Opala G, Maraganore DM, Engelborghs S, de Deyn PP, Cras P, Cruts M, van Broeckhoven C, on behalf of the GEO-PD Consortium (2014) Global investigation and meta-analysis of the C9orf72 (G4C2)n repeat in Parkinson disease. Neurology 83:1906–1913.  https://doi.org/10.1212/wnl.0000000000001012 CrossRefPubMedPubMedCentralGoogle Scholar
  32. Tian J, Vemula SR, Xiao J, Valente EM, Defazio G, Petrucci S, Gigante AF, Rudzińska-Bar M, Wszolek ZK, Kennelly KD, Uitti RJ, van Gerpen JA, Hedera P, Trimble EJ, LeDoux MS (2018) Whole-exome sequencing for variant discovery in blepharospasm. Mol Genet Genomic Med 6:601–626.  https://doi.org/10.1002/mgg3.411 CrossRefPubMedCentralGoogle Scholar
  33. Tsatsakis AM, Zafiropoulos A, Tzatzarakis MN, Tzanakakis GN, Kafatos A (2009) Relation of PON1 and CYP1A1 genetic polymorphisms to clinical findings in a cross-sectional study of a Greek rural population professionally exposed to pesticides. Toxicol Lett 186:66–72.  https://doi.org/10.1016/j.toxlet.2008.10.018 CrossRefPubMedGoogle Scholar
  34. Tsatsakis AM, Androutsopoulos VP, Zafiropoulos A, Babatsikou F, Alegakis T, Dialyna I, Tzatzarakis M, Koutis C (2011) Associations of xenobiotic-metabolizing enzyme genotypes PON1Q192R, PON1L55M and CYP1A1*2A MspI with pathological symptoms of a rural population in south Greece. Xenobiotica 41:914–925.  https://doi.org/10.3109/00498254.2011.590545 CrossRefPubMedGoogle Scholar
  35. Valls-Sole J, Defazio G (2016) Blepharospasm: update on epidemiology, clinical aspects, and pathophysiology. Front Neurol 7:45.  https://doi.org/10.3389/fneur.2016.00045 CrossRefPubMedPubMedCentralGoogle Scholar
  36. Vlata Z, Tsatsakis A, Tzagournissakis M, Krambovitis E (2012) Evaluation of specific immune responses to BoNT/A and tetanus toxoid in patients undergoing treatment for neurologic disorders. Endocr Metab Immune Disord Drug Targets 12:268–273CrossRefGoogle Scholar
  37. Wang L, Chen Y, Hu B, Hu X (2016) Late-onset primary dystonia in Zhejiang province of China: a service-based epidemiological study. Neurol Sci 37:111–116.  https://doi.org/10.1007/s10072-015-2366-z CrossRefPubMedGoogle Scholar
  38. Williams L, McGovern E, Kimmich O, Molloy A, Beiser I, Butler JS, Molloy F, Logan P, Healy DG, Lynch T, Walsh R, Cassidy L, Moriarty P, Moore H, McSwiney T, Walsh C, O'Riordan S, Hutchinson M (2017) Epidemiological, clinical and genetic aspects of adult onset isolated focal dystonia in Ireland. Eur J Neurol 24:73–81.  https://doi.org/10.1111/ene.13133 CrossRefPubMedGoogle Scholar
  39. Xiromerisiou G, Houlden H, Scarmeas N, Stamelou M, Kara E, Hardy J, Lees AJ, Korlipara P, Limousin P, Paudel R, Hadjigeorgiou GM, Bhatia KP (2012) THAP1 mutations and dystonia phenotypes: genotype phenotype correlations. Mov Disord 27:1290–1294.  https://doi.org/10.1002/mds.25146 CrossRefPubMedPubMedCentralGoogle Scholar

Copyright information

© Springer Science+Business Media, LLC, part of Springer Nature 2019

Authors and Affiliations

  • Vasileios Siokas
    • 1
  • Dimitrios Kardaras
    • 2
  • Athina-Maria Aloizou
    • 1
  • Ioannis Asproudis
    • 3
  • Konstadinos G. Boboridis
    • 4
  • Eleni Papageorgiou
    • 2
  • Demetrios A. Spandidos
    • 5
  • Aristidis Tsatsakis
    • 6
  • Evangelia E. Tsironi
    • 2
  • Efthimios Dardiotis
    • 1
    Email author
  1. 1.Department of Neurology, Laboratory of NeurogeneticsUniversity of Thessaly, University Hospital of LarissaLarissaGreece
  2. 2.Department of OphthalmologyUniversity Hospital of Larissa, University of ThessalyLarissaGreece
  3. 3.Department of OphthalmologyUniversity of IoanninaIoanninaGreece
  4. 4.3rd University Department of OphthalmologyAristotle University of ThessalonikiThessalonikiGreece
  5. 5.Laboratory of Clinical Virology, Medical SchoolUniversity of CreteHeraklionGreece
  6. 6.Laboratory of Toxicology, School of MedicineUniversity of CreteHeraklionGreece

Personalised recommendations