Top

Published in:

01-05-2016 | Original Article

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

Authors: Neda Shahmohammadibeni, Simin Rahimi-Aliabadi, Javad Jamshidi, Babak Emamalizadeh, Hossein Ali Shahmohammadibeni, Alireza Zare Bidoki, Haleh Akhavan-Niaki, Hajar Eftekhari, Shokoufeh Abdollahi, Mahmoud Shekari Khaniani, Mahnaz Shahmohammadibeni, Atena Fazeli, Marzieh Motallebi, Shaghayegh Taghavi, Azadeh Ahmadifard, Amir Ehtesham Shafiei Zarneh, Monavvar Andarva, Tahereh Dadkhah, Ehteram Khademi, Elham Alehabib, Mahnoosh Rahimi, Abbas Tafakhori, Minoo Atakhorrami, Hossein Darvish

Published in: Neurological Sciences | Issue 5/2016

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.

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 CrossRefPubMed

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 CrossRefPubMedPubMedCentral

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 CrossRefPubMed

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 CrossRefPubMed

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

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 CrossRefPubMedPubMedCentral

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

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 CrossRefPubMed

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 CrossRefPubMedPubMedCentral

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 CrossRefPubMed

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 CrossRefPubMedPubMedCentral

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 CrossRefPubMed

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 CrossRefPubMedPubMedCentral

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

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):952–962CrossRef

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 CrossRefPubMed

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 CrossRefPubMedPubMedCentral

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

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 CrossRefPubMedPubMedCentral

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):2045–2047CrossRefPubMed

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 CrossRefPubMed

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 CrossRefPubMed

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 CrossRefPubMed

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 CrossRefPubMed

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):4419–4430CrossRefPubMed

Title: The analysis of association between SNCA, HUSEYO and CSMD1 gene variants and Parkinson’s disease in Iranian population
Authors: Neda Shahmohammadibeni
Simin Rahimi-Aliabadi
Javad Jamshidi
Babak Emamalizadeh
Hossein Ali Shahmohammadibeni
Alireza Zare Bidoki
Haleh Akhavan-Niaki
Hajar Eftekhari
Shokoufeh Abdollahi
Mahmoud Shekari Khaniani
Mahnaz Shahmohammadibeni
Atena Fazeli
Marzieh Motallebi
Shaghayegh Taghavi
Azadeh Ahmadifard
Amir Ehtesham Shafiei Zarneh
Monavvar Andarva
Tahereh Dadkhah
Ehteram Khademi
Elham Alehabib
Mahnoosh Rahimi
Abbas Tafakhori
Minoo Atakhorrami
Hossein Darvish
Publication date: 01-05-2016
Publisher: Springer Milan
Published in: Neurological Sciences / Issue 5/2016
Print ISSN: 1590-1874
Electronic ISSN: 1590-3478
DOI: https://doi.org/10.1007/s10072-015-2420-x

At a glance: The STEP trials

Springer Medicine

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

Abstract

At a glance: The STEP trials

Springer Medicine

Abstract

Please log in to get access to this content

Other articles of this Issue 5/2016

Kleefstra-variant syndrome with heterozygous mutations in EHMT1 and KCNQ2 genes: a case report

Major motor-functional determinants associated with poor self-reported health-related quality of life in myasthenia gravis patients

A case report of eight and a half syndrome

Neuroprotective effect of lignans extracted from Eucommia ulmoides Oliv. on glaucoma-related neurodegeneration

Correlated patterns of neuropsychological and behavioral symptoms in frontal variant of Alzheimer disease and behavioral variant frontotemporal dementia: a comparative case study

Association of reversible splenial lesion syndrome (RESLES) with Anti-VGKC autoantibody syndrome: a case report