Purpose : A missense SNP (rs1064039) in the cystatin C gene (CST3) is known to be associated with both AMD and Alzheimer’s disease (AD). A previously published GWAS (n= 9,978) identified that a SNP (rs6048952) adjacent to CST3 (11.2kb downstream of the aforementioned missense SNP) is associated with cystatin C plasma level. We undertook a linkage disequilibrium (LD) analysis around the CST3 locus to determine if LD exists between the two SNPs. Subsequent deduction of haplotypes will shed light on the directionality of the relationship between the two phenotypes: AMD/AD risk and cystatin C plasma levels.
|Publication status||Published - 30 Sept 2016|
|Event||ARVO Annual Meeting 2016 - Seattle, United States|
Duration: 1 May 2016 → 5 May 2016
|Conference||ARVO Annual Meeting 2016|
|Period||1/05/16 → 5/05/16|