title: Absence of association of asporin polymorphisms and osteoarthritis susceptibility in US Caucasians.
abstract: OBJECTIVE
  An association between osteoarthritis (OA) and functional polymorphisms in the aspartic acid (d) repeat of the asporin (ASPN) gene was reported in Japanese and Han Chinese populations. The aim of this study was to assess the association of variants in the ASPN gene with the presence of radiographic hand and/or knee OA in a US Caucasian population.
  
  
  METHODS
  Ten single nucleotide polymorphisms (SNPs) within the ASPN gene were genotyped in 775 affected siblings with radiographically confirmed hand and/or knee OA, and the allelic, genotypic and haplotypic association results were examined.
  
  
  RESULTS
  One variant (SNP RS7033979) showed nominal evidence of association with both hand OA (P=0.042) and knee OA (P=0.032). Four additional SNPs showed nominal evidence of association with knee OA only. These associations were only observed with genotypic tests; the corresponding allelic and haplotype tests did not corroborate the single-point association results.
  
  
  CONCLUSIONS
  These data suggest that polymorphisms within ASPN are not a major influence in susceptibility to hand or knee OA in US Caucasians.
authors.affiliation: GlaxoSmithKline, Research Triangle Park, NC 27709-3398, USA. uzma_x_atif@gsk.com
authors.forename: U
authors.initials: U
authors.lastname: Atif
authors.forename: A
authors.initials: A
authors.lastname: Philip
authors.forename: J
authors.initials: J
authors.lastname: Aponte
authors.forename: E M
authors.initials: EM
authors.lastname: Woldu
authors.forename: S
authors.initials: S
authors.lastname: Brady
authors.forename: V B
authors.initials: VB
authors.lastname: Kraus
authors.forename: J M
authors.initials: JM
authors.lastname: Jordan
authors.forename: M
authors.initials: M
authors.lastname: Doherty
authors.forename: A G
authors.initials: AG
authors.lastname: Wilson
authors.forename: R W
authors.initials: RW
authors.lastname: Moskowitz
authors.forename: M
authors.initials: M
authors.lastname: Hochberg
authors.forename: R
authors.initials: R
authors.lastname: Loeser
authors.forename: J B
authors.initials: JB
authors.lastname: Renner
authors.forename: M
authors.initials: M
authors.lastname: Chiano
mesh_terms: D000368:Aged; D001224:Aspartic Acid / Q000235:genetics* / Q000378:metabolism; D016326:Extracellular Matrix Proteins / Q000235:genetics* / Q000378:metabolism; D005260:Female; D020022:Genetic Predisposition to Disease; D005838:Genotype; D050823:Hand Joints / Q000503:physiopathology; D006801:Humans; D007719:Knee Joint / Q000503:physiopathology; D008297:Male; D008875:Middle Aged; D010003:Osteoarthritis / Q000208:ethnology / Q000235:genetics* / Q000378:metabolism; D010375:Pedigree; D011110:Polymorphism, Genetic / Q000235:genetics*; D035781:Siblings; D013223:Statistics as Topic; D014481:United States / Q000208:ethnology; D044465:White People / Q000235:genetics
chemical_list: C439889:ASPN protein, human; D016326:Extracellular Matrix Proteins; D001224:Aspartic Acid