OP0095 Customized CNV microarray identified UGT2B17 as a novel susceptibility gene associated with familial ankylosing spondylitis

Background Ankylosing spondylitis (AS) exhibits a strong genetic predisposition which is only partially accounted for with SNP-based genome-wide associations. To date no structural variations such as copy number variations (CNVs) have been reported to be associated with AS. Objectives To identify hi...

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Veröffentlicht in:Annals of the rheumatic diseases 2013-06, Vol.71 (Suppl 3), p.85-85
Hauptverfasser: Uddin, M., O'Reilly, D.D., Inman, R.D., Maksymowych, W.P., Gladman, D.D., Hamilton, S., Yazdani, R., Rahman, P.
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Sprache:eng
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Zusammenfassung:Background Ankylosing spondylitis (AS) exhibits a strong genetic predisposition which is only partially accounted for with SNP-based genome-wide associations. To date no structural variations such as copy number variations (CNVs) have been reported to be associated with AS. Objectives To identify highly penetrant, novel CNVs associated with familial AS by employing a custom genome-wide microarray. Methods Our custom microarray which was comprised of 2 X 1 million probes targeting the rearrangement hotspots (mean spacing of 280 bp) was applied on a large multiplex three generational Caucasian AS family of North European ancestry. This multiplex family was consisted of five (5) individuals affected with AS, two (2) members with Systemic lupus erythematosus (SLE) and three (3) unaffected individuals. An ethnically-matched control was used for hybridization. A minimum of five (5) probes were required to call an aberration with an average intensity >0.25 and
ISSN:0003-4967
1468-2060
DOI:10.1136/annrheumdis-2012-eular.1778