title: Analysis of mutations and the association between polymorphisms in the cerebral dopamine neurotrophic factor (CDNF) gene and Parkinson disease.
abstract: Neurotrophic factors support the survival of dopaminergic neurons. The cerebral dopamine neurotrophic factor (CDNF) is a novel neurotrophic factor with strong trophic activity on dopaminergic neurons comparable to that of glial cell line-derived neurotrophic factor (GDNF). To investigate whether rare or common variants in CDNF are associated with Parkinson disease (PD), we performed mutation analysis of CDNF and a genetic association study between CDNF polymorphisms and PD. We screened 110 early-onset Parkinson disease (EOPD) patients for CDNF mutations. Allelic and genotype frequencies of 3 CDNF single nucleotide polymorphisms (SNPs) (rs1901650, rs7094179, and rs11259365) were compared in 215 PD patients and age- and sex-matched controls. We failed to identify any mutations in CDNF among the EOPD patient sample population. We observed a trend towards increased risk for PD in patients carrying the C allele of SNP rs7094179 (odds ratio (OR)=1.27, 95% confidence interval (CI) 0.96-1.67). Patients carrying the C allele were susceptible to PD in both dominant (CC+CA vs. AA; OR=7.20, 95% CI 0.88-59.1) and recessive (CA+AA vs. CC; OR=0.64, 95% CI 0.41-0.99) models. Genotype and allele frequencies of SNPs rs1901650 and rs11259365 did not differ between PD patients and controls. Our study suggests that the C allele of an intronic CDNF SNP (rs7094179) might be an allele for susceptibility to PD. Further studies with larger sample size are required to confirm our results.
authors.affiliation: ILSONG Institute of Life Science, Hallym University, Rm 607, ILSONG Bldg, 1605-4 Gwanyang-dong, Dongan-gu, Anyang, Gyonggi-do 431-060, Republic of Korea.
authors.forename: Jung-Mi
authors.initials: JM
authors.lastname: Choi
authors.forename: Jung-Hoon
authors.initials: JH
authors.lastname: Hong
authors.forename: Min-Joo
authors.initials: MJ
authors.lastname: Chae
authors.forename: Phuoc Hung
authors.initials: PH
authors.lastname: Ngyuen
authors.forename: Hyun-Sook
authors.initials: HS
authors.lastname: Kang
authors.forename: Hyeo-Il
authors.initials: HI
authors.lastname: Ma
authors.forename: Yun Joong
authors.initials: YJ
authors.lastname: Kim
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D016022:Case-Control Studies; D003597:Cytosine Nucleotides / Q000235:genetics; D005260:Female; D005787:Gene Frequency / Q000235:genetics; D006580:Genetic Carrier Screening; D020022:Genetic Predisposition to Disease; D055106:Genome-Wide Association Study / Q000379:methods; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D009414:Nerve Growth Factors / Q000235:genetics*; D010300:Parkinson Disease / Q000175:diagnosis / Q000235:genetics* / Q000378:metabolism; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D012307:Risk Factors; D055815:Young Adult
chemical_list: C522217:CDNF protein, human; D003597:Cytosine Nucleotides; D009414:Nerve Growth Factors