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Lack of association between UBQLN1 and Alzheimer disease.

Publication ,  Journal Article
Slifer, MA; Martin, ER; Bronson, PG; Browning-Large, C; Doraiswamy, PM; Welsh-Bohmer, KA; Gilbert, JR; Haines, JL; Pericak-Vance, MA
Published in: Am J Med Genet B Neuropsychiatr Genet
April 5, 2006

Alzheimer disease (AD) is heterogeneous and complex with a strong genetic diathesis. It is the most common cause of dementia affecting the elderly. Linkage studies [Kehoe et al., 1999; Hum Mol Genet 8: 237-245]; [Pericak-Vance et al., 2000; Exp Gerontol 35: 1343-1352]; [Myers et al., 2002; Am J Med Genet 114: 235-244]; [Blacker et al., 2003; Hum Mol Genet 12: 23-32] identified chromosome 9q as a region containing a possible AD candidate gene. Functional protein studies [Mah et al., 2000; J Cell Biol 151: 847-862]; [Ko et al., 2002; J Biol Chem 277: 35386-35392] identified the UBQLN1 gene on chromosome 9q that encodes ubiquilin as a likely candidate for a role in late-onset AD pathogenesis. A recent family-based study by [Bertram et al., 2005; N Engl J 352: 884-894] reported genetic association and expression evidence for a putative AD risk allele of an intronic single nucleotide polymorphism (SNP) within the UBQLN1 gene. In this study, we comprehensively assessed whether any of seven polymorphisms located across the UBQLN1 gene are associated with AD in another large family-based data set and an independent case-control data set. We found no significant association of AD risk with any of the seven SNPs genotyped (including those SNPs previously reported by Bertram et al.) in either the family-based or case-control data set. Age-specific analyses and analyses conditional on Apolipoprotein E (ApoE) genotype and sex also revealed no significant associations to AD risk in either data set. Using age at onset (AAO) as a quantitative trait revealed a modest age modifying association; however, the results were inconsistent between the data sets. Our results suggest that UBQLN1 variants do not increase risk for AD in these data.

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Published In

Am J Med Genet B Neuropsychiatr Genet

DOI

ISSN

1552-4841

Publication Date

April 5, 2006

Volume

141B

Issue

3

Start / End Page

208 / 213

Location

United States

Related Subject Headings

  • Polymorphism, Single Nucleotide
  • Middle Aged
  • Male
  • Linkage Disequilibrium
  • Humans
  • Genotype
  • Gene Frequency
  • Female
  • Family Health
  • Cell Cycle Proteins
 

Citation

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Slifer, M. A., Martin, E. R., Bronson, P. G., Browning-Large, C., Doraiswamy, P. M., Welsh-Bohmer, K. A., … Pericak-Vance, M. A. (2006). Lack of association between UBQLN1 and Alzheimer disease. Am J Med Genet B Neuropsychiatr Genet, 141B(3), 208–213. https://doi.org/10.1002/ajmg.b.30298
Slifer, M. A., E. R. Martin, P. G. Bronson, C. Browning-Large, P. M. Doraiswamy, K. A. Welsh-Bohmer, J. R. Gilbert, J. L. Haines, and M. A. Pericak-Vance. “Lack of association between UBQLN1 and Alzheimer disease.Am J Med Genet B Neuropsychiatr Genet 141B, no. 3 (April 5, 2006): 208–13. https://doi.org/10.1002/ajmg.b.30298.
Slifer MA, Martin ER, Bronson PG, Browning-Large C, Doraiswamy PM, Welsh-Bohmer KA, et al. Lack of association between UBQLN1 and Alzheimer disease. Am J Med Genet B Neuropsychiatr Genet. 2006 Apr 5;141B(3):208–13.
Slifer, M. A., et al. “Lack of association between UBQLN1 and Alzheimer disease.Am J Med Genet B Neuropsychiatr Genet, vol. 141B, no. 3, Apr. 2006, pp. 208–13. Pubmed, doi:10.1002/ajmg.b.30298.
Slifer MA, Martin ER, Bronson PG, Browning-Large C, Doraiswamy PM, Welsh-Bohmer KA, Gilbert JR, Haines JL, Pericak-Vance MA. Lack of association between UBQLN1 and Alzheimer disease. Am J Med Genet B Neuropsychiatr Genet. 2006 Apr 5;141B(3):208–213.
Journal cover image

Published In

Am J Med Genet B Neuropsychiatr Genet

DOI

ISSN

1552-4841

Publication Date

April 5, 2006

Volume

141B

Issue

3

Start / End Page

208 / 213

Location

United States

Related Subject Headings

  • Polymorphism, Single Nucleotide
  • Middle Aged
  • Male
  • Linkage Disequilibrium
  • Humans
  • Genotype
  • Gene Frequency
  • Female
  • Family Health
  • Cell Cycle Proteins