Skip to main content
SpringerLink
Log in

The analysis of association between SNCA, HUSEYO and CSMD1 gene variants and Parkinson’s disease in Iranian population

  • Original Article
  • Published:
Neurological Sciences Aims and scope Submit manuscript

Abstract

Parkinson’s disease (PD) is the second most prevalent neurodegenerative disorder. Both genetic and environmental factors are involved in the etiology of the disease. Many studies have revealed the susceptibility genes and variations for PD which need further confirmation. Here we evaluated the association of variations in SNCA, HUSEYO and CSMD1 genes with PD. A case–control study was conducted with 489 PD patients and 489 healthy controls. DNA was extracted from peripheral blood of all subjects and rs356220 and rs11931074 in SNCA, rs2338971 in HUSEYO and rs12681349 in CSMD1 were genotyped using PCR–RFLP method. The genotypes and allele frequencies were significantly different between case and control groups for rs356220, rs11931074 and rs2338971 but not for rs12681349. We provided further evidence that rs356220 is associated with increased risk of PD supporting previous studies in Caucasian-based and Japanese populations. The association of rs11931074 with decreased risk of PD was also significant. This study revealed the first evidence of the association of rs2338971 with increased risk of PD in the Iranian population. Nevertheless, these findings need further validation via more replication studies.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Similar content being viewed by others

References

  1. de Lau LM, Breteler MM (2006) Epidemiology of Parkinson’s disease. Lancet Neurol 5(6):525–535. doi:10.1016/S1474-4422(06)70471-9

    Article  PubMed  Google Scholar 

  2. Latourelle JC, Pankratz N, Dumitriu A, Wilk JB, Goldwurm S, Pezzoli G, Mariani CB, DeStefano AL, Halter C, Gusella JF, Nichols WC, Myers RH, Foroud T, Progeni Investigators C, Molecular Genetic L, GenePd Investigators C, Molecular Genetic L (2009) Genomewide association study for onset age in Parkinson disease. BMC Med Genet 10:98. doi:10.1186/1471-2350-10-98

    Article  PubMed  PubMed Central  Google Scholar 

  3. Darvish H, Movafagh A, Omrani MD, Firouzabadi SG, Azargashb E, Jamshidi J, Khaligh A, Haghnejad L, Naeini NS, Talebi A, Heidari-Rostami HR, Noorollahi-Moghaddam H, Karkheiran S, Shahidi GA, Paknejad SM, Ashrafian H, Abdi S, Kayyal M, Akbari M, Pedram N, Emamalizadeh B (2013) Detection of copy number changes in genes associated with Parkinson’s disease in Iranian patients. Neurosci Lett 551:75–78. doi:10.1016/j.neulet.2013.07.013

    Article  CAS  PubMed  Google Scholar 

  4. Jamshidi J, Movafagh A, Emamalizadeh B, Zare Bidoki A, Manafi A, Ghasemi Firouzabadi S, Shahidi GA, Kazeminasab S, Petramfar P, Fazeli A, Motallebi M, Mortazavi-Tabatabaei SA, Kowsari A, Jafarian Z, Darvish H (2014) HLA-DRA is associated with Parkinson’s disease in Iranian population. Int J Immunogenet 41(6):508–511. doi:10.1111/iji.12151

    Article  CAS  PubMed  Google Scholar 

  5. Samii A, Nutt JG, Ransom BR (2004) Parkinson’s disease. Lancet 363(9423):1783–1793. doi:10.1016/S0140-6736(04)16305-8

    Article  CAS  PubMed  Google Scholar 

  6. Pankratz N, Wilk JB, Latourelle JC, DeStefano AL, Halter C, Pugh EW, Doheny KF, Gusella JF, Nichols WC, Foroud T, Myers RH, Psg P, GenePd Investigators C, Molecular Genetic L (2009) Genomewide association study for susceptibility genes contributing to familial Parkinson disease. Hum Genet 124(6):593–605. doi:10.1007/s00439-008-0582-9

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  7. Guo XY, Chen YP, Song W, Zhao B, Cao B, Wei QQ, Ou RW, Yang Y, Yuan LX, Shang HF (2014) SNCA variants rs2736990 and rs356220 as risk factors for Parkinson’s disease but not for amyotrophic lateral sclerosis and multiple system atrophy in a Chinese population. Neurobiol Aging 35(12):2882 e2881–2886. doi:10.1016/j.neurobiolaging.2014.07.014

  8. Deng H, Yuan L (2014) Genetic variants and animal models in SNCA and Parkinson disease. Ageing Res Rev 15:161–176. doi:10.1016/j.arr.2014.04.002

    Article  CAS  PubMed  Google Scholar 

  9. Edwards TL, Scott WK, Almonte C, Burt A, Powell EH, Beecham GW, Wang L, Zuchner S, Konidari I, Wang G, Singer C, Nahab F, Scott B, Stajich JM, Pericak-Vance M, Haines J, Vance JM, Martin ER (2010) Genome-wide association study confirms SNPs in SNCA and the MAPT region as common risk factors for Parkinson disease. Ann Hum Genet 74(2):97–109. doi:10.1111/j.1469-1809.2009.00560.x

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  10. Liu J, Xiao Q, Wang Y, Xu ZM, Wang Y, Yang Q, Wang G, Tan YY, Ma JF, Zhang J, Huang W, Chen SD (2013) Analysis of genome-wide association study-linked loci in Parkinson’s disease of Mainland China. Mov Disord 28(13):1892–1895. doi:10.1002/mds.25599

    Article  CAS  PubMed  Google Scholar 

  11. Miyake Y, Tanaka K, Fukushima W, Kiyohara C, Sasaki S, Tsuboi Y, Yamada T, Oeda T, Shimada H, Kawamura N, Sakae N, Fukuyama H, Hirota Y, Nagai M, Fukuoka Kinki Parkinson’s Disease Study G (2012) UCHL1 S18Y variant is a risk factor for Parkinson’s disease in Japan. BMC Neurol 12:62. doi:10.1186/1471-2377-12-62

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  12. Pan F, Ding H, Dong H, Ye M, Liu W, Cui G, Chen J, Wu Y, Wang H, Dai X, Shi H, Ding X (2013) Association of polymorphism in rs2736990 of the alpha-synuclein gene with Parkinson’s disease in a Chinese population. Neurol India 61(4):360–364. doi:10.4103/0028-3886.117595

    Article  PubMed  Google Scholar 

  13. Hill-Burns EM, Wissemann WT, Hamza TH, Factor SA, Zabetian CP, Payami H (2014) Identification of a novel Parkinson’s disease locus via stratified genome-wide association study. BMC Genomics 15:118. doi:10.1186/1471-2164-15-118

    Article  PubMed  PubMed Central  Google Scholar 

  14. Chung SJ, Jung Y, Hong M, Kim MJ, You S, Kim YJ, Kim J, Song K (2013) Alzheimer’s disease and Parkinson’s disease genome-wide association study top hits and risk of Parkinson’s disease in Korean population. Neurobiol Aging 34(11):2695 e2691–2697. doi:10.1016/j.neurobiolaging.2013.05.022

  15. Parcerisas A, Rubio SE, Muhaisen A, Gomez-Ramos A, Pujadas L, Puiggros M, Rossi D, Urena J, Burgaya F, Pascual M, Torrents D, Rabano A, Avila J, Soriano E (2014) Somatic signature of brain-specific single nucleotide variations in sporadic Alzheimer’s disease. J Alzheimer’s Dis (JAD) 42(4):1357–1382. doi:10.3233/JAD-140891

    CAS  Google Scholar 

  16. Stepanov VA, Bocharova AV, Marusin AV, Zhukova NG, Alifirova VM, Zhukova IA (2014) Replicative association analysis of genetic markers of cognitive traits with Alzheimer’s disease in a Russian population. Mol Biol 48(6):952–962

    Article  CAS  Google Scholar 

  17. Gonzalez JR, Armengol L, Sole X, Guino E, Mercader JM, Estivill X, Moreno V (2007) SNPassoc: an R package to perform whole genome association studies. Bioinformatics 23(5):644–645. doi:10.1093/bioinformatics/btm025

    Article  PubMed  Google Scholar 

  18. Kim WS, Kagedal K, Halliday GM (2014) Alpha-synuclein biology in Lewy body diseases. Alzheimers Res Ther 6(5):73. doi:10.1186/s13195-014-0073-2

    Article  PubMed  PubMed Central  Google Scholar 

  19. Miklya I, Pencz N, Hafenscher F, Goltl P (2014) The role of alpha-synuclein in Parkinson’s disease. Neuropsychopharmacologia Hungarica: a Magyar Pszichofarmakologiai Egyesulet lapja = official journal of the Hungarian Association of Psychopharmacology 16(2):77–84

    Google Scholar 

  20. Luk KC, Lee VM (2014) Modeling Lewy pathology propagation in Parkinson’s disease. Parkinsonism Relat Disord 20(Suppl 1):S85–S87. doi:10.1016/S1353-8020(13)70022-1

    Article  PubMed  PubMed Central  Google Scholar 

  21. Polymeropoulos MH, Lavedan C, Leroy E, Ide SE, Dehejia A, Dutra A, Pike B, Root H, Rubenstein J, Boyer R, Stenroos ES, Chandrasekharappa S, Athanassiadou A, Papapetropoulos T, Johnson WG, Lazzarini AM, Duvoisin RC, Di Iorio G, Golbe LI, Nussbaum RL (1997) Mutation in the alpha-synuclein gene identified in families with Parkinson’s disease. Science 276(5321):2045–2047

    Article  CAS  PubMed  Google Scholar 

  22. Pals P, Lincoln S, Manning J, Heckman M, Skipper L, Hulihan M, Van den Broeck M, De Pooter T, Cras P, Crook J, Van Broeckhoven C, Farrer MJ (2004) Alpha-synuclein promoter confers susceptibility to Parkinson’s disease. Ann Neurol 56(4):591–595. doi:10.1002/ana.20268

    Article  CAS  PubMed  Google Scholar 

  23. Wu-Chou YH, Chen YT, Yeh TH, Chang HC, Weng YH, Lai SC, Huang CL, Chen RS, Huang YZ, Chen CC, Hung J, Chuang WL, Lin WY, Chen CH, Lu CS (2013) Genetic variants of SNCA and LRRK2 genes are associated with sporadic PD susceptibility: a replication study in a Taiwanese cohort. Parkinsonism Relat Disord 19(2):251–255. doi:10.1016/j.parkreldis.2012.10.019

    Article  PubMed  Google Scholar 

  24. Cardo LF, Coto E, de Mena L, Ribacoba R, Mata IF, Menendez M, Moris G, Alvarez V (2014) Alpha-synuclein transcript isoforms in three different brain regions from Parkinson’s disease and healthy subjects in relation to the SNCA rs356165/rs11931074 polymorphisms. Neurosci Lett 562:45–49. doi:10.1016/j.neulet.2014.01.009

    Article  CAS  PubMed  Google Scholar 

  25. Hu Y, Tang B, Guo J, Wu X, Sun Q, Shi C, Hu L, Wang C, Wang L, Tan L, Shen L, Yan X, Zhang H (2012) Variant in the 3′ region of SNCA associated with Parkinson’s disease and serum alpha-synuclein levels. J Neurol 259(3):497–504. doi:10.1007/s00415-011-6209-4

    Article  CAS  PubMed  Google Scholar 

  26. Kraus DM, Elliott GS, Chute H, Horan T, Pfenninger KH, Sanford SD, Foster S, Scully S, Welcher AA, Holers VM (2006) CSMD1 is a novel multiple domain complement-regulatory protein highly expressed in the central nervous system and epithelial tissues. J Immunol 176(7):4419–4430

    Article  CAS  PubMed  Google Scholar 

Download references

Acknowledgments

We would like to thank our patients and their families for their participation. This study was funded by Babol University of Medical Sciences (grant number: 933909).

Author information

Author notes

    Authors and Affiliations

    1. Cellular and Molecular Biology Research Center, Babol University of Medical Sciences, Babol, Iran

      Neda Shahmohammadibeni, Haleh Akhavan-Niaki, Hajar Eftekhari, Mahnaz Shahmohammadibeni, Tahereh Dadkhah & Ehteram Khademi

    2. Department of Medical Genetics, School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran

      Simin Rahimi-Aliabadi, Babak Emamalizadeh, Atena Fazeli, Marzieh Motallebi, Shaghayegh Taghavi, Azadeh Ahmadifard, Amir Ehtesham Shafiei Zarneh, Monavvar Andarva, Elham Alehabib, Mahnoosh Rahimi, Minoo Atakhorrami & Hossein Darvish

    3. Noncommunicable Diseases Research Center, Fasa University of Medical Sciences, Fasa, Iran

      Javad Jamshidi

    4. Neurology Department, Jondi-Shapoor University of Medical Sciences, Ahwaz, Iran

      Hossein Ali Shahmohammadibeni

    5. Thrombosis Hemostasis Research Center, Tehran University of Medical Sciences, Tehran, Iran

      Alireza Zare Bidoki

    6. Department of Medical Genetics, School of Medicine, Shiraz University of Medical Sciences, Shiraz, Iran

      Shokoufeh Abdollahi

    7. Department of Medical Genetics, Faculty of Medicine, Tabriz University of Medical Sciences, Tabriz, Iran

      Mahmoud Shekari Khaniani

    8. Neurosceinces Research Center, Tabriz University of Medical Sciences, Tabriz, Iran

      Mahmoud Shekari Khaniani

    9. Department of Neurology, School of Medicine, Imam Khomeini Hospital, Iranian Center of Neurological Research, Tehran University of Medical Sciences, Tehran, Iran

      Abbas Tafakhori

    Authors
    1. Neda Shahmohammadibeni
      View author publications

      You can also search for this author in PubMed Google Scholar

    2. Simin Rahimi-Aliabadi
      View author publications

      You can also search for this author in PubMed Google Scholar

    3. Javad Jamshidi
      View author publications

      You can also search for this author in PubMed Google Scholar

    4. Babak Emamalizadeh
      View author publications

      You can also search for this author in PubMed Google Scholar

    5. Hossein Ali Shahmohammadibeni
      View author publications

      You can also search for this author in PubMed Google Scholar

    6. Alireza Zare Bidoki
      View author publications

      You can also search for this author in PubMed Google Scholar

    7. Haleh Akhavan-Niaki
      View author publications

      You can also search for this author in PubMed Google Scholar

    8. Hajar Eftekhari
      View author publications

      You can also search for this author in PubMed Google Scholar

    9. Shokoufeh Abdollahi
      View author publications

      You can also search for this author in PubMed Google Scholar

    10. Mahmoud Shekari Khaniani
      View author publications

      You can also search for this author in PubMed Google Scholar

    11. Mahnaz Shahmohammadibeni
      View author publications

      You can also search for this author in PubMed Google Scholar

    12. Atena Fazeli
      View author publications

      You can also search for this author in PubMed Google Scholar

    13. Marzieh Motallebi
      View author publications

      You can also search for this author in PubMed Google Scholar

    14. Shaghayegh Taghavi
      View author publications

      You can also search for this author in PubMed Google Scholar

    15. Azadeh Ahmadifard
      View author publications

      You can also search for this author in PubMed Google Scholar

    16. Amir Ehtesham Shafiei Zarneh
      View author publications

      You can also search for this author in PubMed Google Scholar

    17. Monavvar Andarva
      View author publications

      You can also search for this author in PubMed Google Scholar

    18. Tahereh Dadkhah
      View author publications

      You can also search for this author in PubMed Google Scholar

    19. Ehteram Khademi
      View author publications

      You can also search for this author in PubMed Google Scholar

    20. Elham Alehabib
      View author publications

      You can also search for this author in PubMed Google Scholar

    21. Mahnoosh Rahimi
      View author publications

      You can also search for this author in PubMed Google Scholar

    22. Abbas Tafakhori
      View author publications

      You can also search for this author in PubMed Google Scholar

    23. Minoo Atakhorrami
      View author publications

      You can also search for this author in PubMed Google Scholar

    24. Hossein Darvish
      View author publications

      You can also search for this author in PubMed Google Scholar

    Corresponding author

    Correspondence to Hossein Darvish.

    Ethics declarations

    Conflict of interest

    The authors declare that there are no conflicts of interest.

    Additional information

    N. Shahmohammadibeni and S. Rahimi-Aliabadi have contributed equally to this work.

    Rights and permissions

    Reprints and permissions

    About this article

    Check for updates. Verify currency and authenticity via CrossMark

    Cite this article

    Shahmohammadibeni, N., Rahimi-Aliabadi, S., Jamshidi, J. et al. The analysis of association between SNCA, HUSEYO and CSMD1 gene variants and Parkinson’s disease in Iranian population. Neurol Sci 37, 731–736 (2016). https://doi.org/10.1007/s10072-015-2420-x

    Download citation

    • Received:

    • Accepted:

    • Published:

    • Issue Date:

    • DOI: https://doi.org/10.1007/s10072-015-2420-x

    Keywords

    Search

    Navigation