Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
3
pubmed:dateCreated
2005-5-18
pubmed:abstractText
The ank (progressive ankylosis) mutant mouse, which has a nonsense mutation in exon 12 of the inorganic pyrophosphate regulator gene (ank), exhibits aberrant joint ankylosis similar to human ankylosing spondylitis (AS). We previously performed family-based association analyses of 124 Caucasian AS families and showed that novel genetic markers in the 5' flanking region of ANKH (the human homolog of the murine ank gene) are modestly associated with AS. The objective of the present study was to conduct a more extensive evaluation of ANKH variants that are significantly associated with AS and to determine whether the association is gender specific. We genotyped 201 multiplex AS families with nine ANKH intragenetic and two flanking microsatellite markers, and performed family-based association analyses. We showed that ANKH variants located in two different regions of the ANKH gene were associated with AS. Results of haplotype analyses indicated that, after Bonferroni correction, the haplotype combination of rs26307 [C] and rs27356 [C] is significantly associated with AS in men (recessive/dominant model; P = 0.004), and the haplotype combination of rs28006 [C] and rs25957 [C] is significantly associated with AS in women (recessive/dominant model; P = 0.004). A test of interaction identified rs26307 (i.e. the region that was associated in men with AS) as showing a difference in the strength of the association by gender. The region associated with AS in women only showed significance in the test of interaction among the subset of families with affected individuals of both genders. These findings support the concept that ANKH plays a role in genetic susceptibility to AS and reveals a gender-genotype specificity in this interaction.
pubmed:grant
pubmed:commentsCorrections
http://linkedlifedata.com/resource/pubmed/commentcorrection/15899038-10568571, http://linkedlifedata.com/resource/pubmed/commentcorrection/15899038-10857794, http://linkedlifedata.com/resource/pubmed/commentcorrection/15899038-10894769, http://linkedlifedata.com/resource/pubmed/commentcorrection/15899038-11053066, http://linkedlifedata.com/resource/pubmed/commentcorrection/15899038-11231900, http://linkedlifedata.com/resource/pubmed/commentcorrection/15899038-11746513, http://linkedlifedata.com/resource/pubmed/commentcorrection/15899038-12185249, http://linkedlifedata.com/resource/pubmed/commentcorrection/15899038-12465156, http://linkedlifedata.com/resource/pubmed/commentcorrection/15899038-12483528, http://linkedlifedata.com/resource/pubmed/commentcorrection/15899038-12563688, http://linkedlifedata.com/resource/pubmed/commentcorrection/15899038-12632434, http://linkedlifedata.com/resource/pubmed/commentcorrection/15899038-12634937, http://linkedlifedata.com/resource/pubmed/commentcorrection/15899038-12966615, http://linkedlifedata.com/resource/pubmed/commentcorrection/15899038-14558096, http://linkedlifedata.com/resource/pubmed/commentcorrection/15899038-14685227, http://linkedlifedata.com/resource/pubmed/commentcorrection/15899038-15248224, http://linkedlifedata.com/resource/pubmed/commentcorrection/15899038-2084239, http://linkedlifedata.com/resource/pubmed/commentcorrection/15899038-2369416, http://linkedlifedata.com/resource/pubmed/commentcorrection/15899038-3158467, http://linkedlifedata.com/resource/pubmed/commentcorrection/15899038-3199401, http://linkedlifedata.com/resource/pubmed/commentcorrection/15899038-3872366, http://linkedlifedata.com/resource/pubmed/commentcorrection/15899038-6231933, http://linkedlifedata.com/resource/pubmed/commentcorrection/15899038-6332580, http://linkedlifedata.com/resource/pubmed/commentcorrection/15899038-6608352, http://linkedlifedata.com/resource/pubmed/commentcorrection/15899038-8360039, http://linkedlifedata.com/resource/pubmed/commentcorrection/15899038-8447318, http://linkedlifedata.com/resource/pubmed/commentcorrection/15899038-8489546, http://linkedlifedata.com/resource/pubmed/commentcorrection/15899038-9433870, http://linkedlifedata.com/resource/pubmed/commentcorrection/15899038-9550467
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:issn
1478-6362
pubmed:author
pubmed:issnType
Electronic
pubmed:volume
7
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
R513-25
pubmed:dateRevised
2009-11-18
pubmed:meshHeading
pubmed:year
2005
pubmed:articleTitle
ANKH variants associated with ankylosing spondylitis: gender differences.
pubmed:affiliation
Toronto Western Research Institute, Toronto, Ontario, Canada. htsui@uhnres.utoronto.ca
pubmed:publicationType
Journal Article, Comparative Study, Research Support, U.S. Gov't, P.H.S., Research Support, Non-U.S. Gov't, Multicenter Study, Research Support, N.I.H., Extramural