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Fibroblast growth factor 20 polymorphisms and haplotypes strongly influence risk of Parkinson disease.

Publication ,  Journal Article
van der Walt, JM; Noureddine, MA; Kittappa, R; Hauser, MA; Scott, WK; McKay, R; Zhang, F; Stajich, JM; Fujiwara, K; Scott, BL; Vance, JM ...
Published in: Am J Hum Genet
June 2004

The pathogenic process responsible for the loss of dopaminergic neurons within the substantia nigra of patients with Parkinson disease (PD) is poorly understood. Current research supports the involvement of fibroblast growth factor (FGF20) in the survival of dopaminergic cells. FGF20 is a neurotrophic factor that is preferentially expressed within the substantia nigra of rat brain. The human homologue has been mapped to 8p21.3-8p22, which is within an area of PD linkage revealed through our published genomic screen. To test whether FGF20 influences risk of PD, we genotyped five single-nucleotide polymorphisms (SNPs) lying within the FGF20 gene, in a large family study. We analyzed our sample (644 families) through use of the pedigree disequilibrium test (PDT), the genotype PDT, the multilocus-genotype PDT, and the family-based association test to assess association between risk of PD and alleles, genotypes, multilocus genotypes, and haplotypes. We discovered a highly significant association of PD with one intronic SNP, rs1989754 (P=.0006), and two SNPs, rs1721100 (P=.02) and ss20399075 (P=.0008), located in the 3' regulatory region in our overall sample. Furthermore, we detected a haplotype (A-G-C-C-T) that is positively associated with risk of PD (P=.0003), whereas a second haplotype (A-G-G-G-C) was found to be negatively associated with risk of PD (P=.0009). Our results strongly support FGF20 as a risk factor for PD.

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Published In

Am J Hum Genet

DOI

ISSN

0002-9297

Publication Date

June 2004

Volume

74

Issue

6

Start / End Page

1121 / 1127

Location

United States

Related Subject Headings

  • Sequence Homology, Nucleic Acid
  • Risk Factors
  • Polymorphism, Single Nucleotide
  • Parkinson Disease
  • Molecular Sequence Data
  • Linkage Disequilibrium
  • Humans
  • Haplotypes
  • Genetics & Heredity
  • Genetic Predisposition to Disease
 

Citation

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van der Walt, J. M., Noureddine, M. A., Kittappa, R., Hauser, M. A., Scott, W. K., McKay, R., … Martin, E. R. (2004). Fibroblast growth factor 20 polymorphisms and haplotypes strongly influence risk of Parkinson disease. Am J Hum Genet, 74(6), 1121–1127. https://doi.org/10.1086/421052
Walt, Joelle M. van der, Maher A. Noureddine, Raja Kittappa, Michael A. Hauser, William K. Scott, Ron McKay, Fengyu Zhang, et al. “Fibroblast growth factor 20 polymorphisms and haplotypes strongly influence risk of Parkinson disease.Am J Hum Genet 74, no. 6 (June 2004): 1121–27. https://doi.org/10.1086/421052.
van der Walt JM, Noureddine MA, Kittappa R, Hauser MA, Scott WK, McKay R, et al. Fibroblast growth factor 20 polymorphisms and haplotypes strongly influence risk of Parkinson disease. Am J Hum Genet. 2004 Jun;74(6):1121–7.
van der Walt, Joelle M., et al. “Fibroblast growth factor 20 polymorphisms and haplotypes strongly influence risk of Parkinson disease.Am J Hum Genet, vol. 74, no. 6, June 2004, pp. 1121–27. Pubmed, doi:10.1086/421052.
van der Walt JM, Noureddine MA, Kittappa R, Hauser MA, Scott WK, McKay R, Zhang F, Stajich JM, Fujiwara K, Scott BL, Pericak-Vance MA, Vance JM, Martin ER. Fibroblast growth factor 20 polymorphisms and haplotypes strongly influence risk of Parkinson disease. Am J Hum Genet. 2004 Jun;74(6):1121–1127.
Journal cover image

Published In

Am J Hum Genet

DOI

ISSN

0002-9297

Publication Date

June 2004

Volume

74

Issue

6

Start / End Page

1121 / 1127

Location

United States

Related Subject Headings

  • Sequence Homology, Nucleic Acid
  • Risk Factors
  • Polymorphism, Single Nucleotide
  • Parkinson Disease
  • Molecular Sequence Data
  • Linkage Disequilibrium
  • Humans
  • Haplotypes
  • Genetics & Heredity
  • Genetic Predisposition to Disease