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

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.

[1]  J. Nutt,et al.  Parkinson's disease , 2004, The Lancet.

[2]  Wei Song,et al.  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 , 2014, Neurobiology of Aging.

[3]  A. Marusin,et al.  Replicative association analysis of genetic markers of cognitive traits with Alzheimer’s disease in the Russian population , 2014, Molecular Biology.

[4]  P. Petramfar,et al.  HLA‐DRA is associated with Parkinson's disease in Iranian population , 2014, International journal of immunogenetics.

[5]  D. Torrents,et al.  Somatic signature of brain-specific single nucleotide variations in sporadic Alzheimer's disease. , 2014, Journal of Alzheimer's disease : JAD.

[6]  S E Ide,et al.  Mutation in the alpha-synuclein gene identified in families with Parkinson's disease. , 1997, Science.

[7]  Xavier Estivill,et al.  SNPassoc: an R package to perform whole genome association studies , 2007, Bioinform..

[8]  M. Farrer,et al.  α‐Synuclein promoter confers susceptibility to Parkinson's disease , 2004 .

[9]  Robert L. Nussbaum,et al.  Mutation in the α-Synuclein Gene Identified in Families with Parkinson's Disease , 1997 .

[10]  G. Halliday,et al.  Alpha-synuclein biology in Lewy body diseases , 2014, Alzheimer's Research & Therapy.

[11]  Ying Wang,et al.  Analysis of genome‐wide association study‐linked loci in Parkinson's disease of Mainland China , 2013, Movement disorders : official journal of the Movement Disorder Society.

[12]  S. Chung,et al.  Alzheimer's disease and Parkinson's disease genome-wide association study top hits and risk of Parkinson's disease in Korean population , 2013, Neurobiology of Aging.

[13]  Eden R Martin,et al.  Genome‐Wide Association Study Confirms SNPs in SNCA and the MAPT Region as Common Risk Factors for Parkinson Disease , 2010, Annals of human genetics.

[14]  A. Talebi,et al.  Detection of copy number changes in genes associated with Parkinson's disease in Iranian patients , 2013, Neuroscience Letters.

[15]  Ying-Zu Huang,et al.  Genetic variants of SNCA and LRRK2 genes are associated with sporadic PD susceptibility: a replication study in a Taiwanese cohort. , 2013, Parkinsonism & related disorders.

[16]  M. Bassi The Role of Alpha-Synuclein in Parkinson ’ s Disease , 2014 .

[17]  M. Breteler,et al.  Epidemiology of Parkinson's disease , 2006, The Lancet Neurology.

[18]  K. Doheny,et al.  Genomewide association study for susceptibility genes contributing to familial Parkinson disease , 2009, Human Genetics.

[19]  S. Factor,et al.  Identification of a novel Parkinson’s disease locus via stratified genome-wide association study , 2014, BMC Genomics.

[20]  T. Horan,et al.  CSMD1 Is a Novel Multiple Domain Complement-Regulatory Protein Highly Expressed in the Central Nervous System and Epithelial Tissues1 , 2006, The Journal of Immunology.

[21]  H. Fukuyama,et al.  UCHL1 S18Y variant is a risk factor for Parkinson’s disease in Japan , 2012, BMC Neurology.

[22]  Tatiana Foroud,et al.  Genomewide association study for onset age in Parkinson disease , 2009, BMC Medical Genetics.

[23]  M. Farrer,et al.  alpha-Synuclein promoter confers susceptibility to Parkinson's disease. , 2004, Annals of neurology.

[24]  V. Álvarez,et al.  Alpha-synuclein transcript isoforms in three different brain regions from Parkinson's disease and healthy subjects in relation to the SNCA rs356165/rs11931074 polymorphisms , 2014, Neuroscience Letters.

[25]  B. Tang,et al.  Variant in the 3′ region of SNCA associated with Parkinson’s disease and serum α-synuclein levels , 2012, Journal of Neurology.

[26]  H. Deng,et al.  Genetic variants and animal models in SNCA and Parkinson disease , 2014, Ageing Research Reviews.

[27]  V. Lee,et al.  Modeling Lewy pathology propagation in Parkinson's disease. , 2014, Parkinsonism & related disorders.