Aim 1 To characterise across the whole genome genetic variatuion underlying risk to AS.

Aim 2 To identify new AS-associated loci not tagged by common variant association studies preformed to date

Aim 3 To pinpoint functional disease-associated loci in AS

Hypothesis

1. Genetic risk variants not tagged GWAS arrays contribute significantly to the heritability of AS
2. AS-assicated loci identified by GWAS harbour multiple causal variants across the risk allele frequency spectrum

ALSPAC STUDY

AIM - To test whether low pass whole genome sequencing performed in one centre (Wellcome Trust Sanger Centre, Cambridge) provides similar findings to sequencing performed in another cente (University of Queens land Centre for Clinical Genomics, Brisbane)

This is a prerequisite if the UK10K dta is to be used as control data in copariosn with sequence data on ankylosing spondylitis cases sequenced in Brisbane.