Absence of association of asporin polymorphisms and osteoarthritis susceptibility in US Caucasians.
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.
Atif
U
U
GlaxoSmithKline, Research Triangle Park, NC 27709-3398, USA. uzma_x_atif@gsk.com
Philip
A
A
Aponte
J
J
Woldu
E M
EM
Brady
S
S
Kraus
V B
VB
Jordan
J M
JM
Doherty
M
M
Wilson
A G
AG
Moskowitz
R W
RW
Hochberg
M
M
Loeser
R
R
Renner
J B
JB
Chiano
M
M
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
C439889:ASPN protein, human; D016326:Extracellular Matrix Proteins; D001224:Aspartic Acid