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1.1 Genome Wide Association Scan Identifies Loci for Arterial Stiffness in Young Healthy Adults



Premature arterial stiffening is an important and independent predictor of cardiovascular risk. Stiffness is heritable, but the precise molecular pathways regulating it are poorly understood. We aimed to identify possible genetic risk loci for arterial stiffness in young healthy adults (<25 years) at low cardiovascular risk, and explore top signals in other populations.


Demographic and haemodynamic data including aortic pulse wave velocity (aPWV) were recorded. Genome wide association scan (GWAS) was performed in ACCT individuals at extremes of high and low aPWV (n = 1200) using Illumina 610K beadarrays. Top 16 signals validated in age matched cohorts (ALSPAC: n = 2963; Hyderabad:n = 686; and remainder of ACCT: n = 910). Taqman and Sequenom SNP assays used for replication studies. SNPs were tested for their association with aPWV after adjusting for covariates.


GWAS analysis revealed a number of SNPs associating with aPWV. Overall, 7 SNPs reached GW significance (p<10−8), 41 had threshold values of p<10−7p<10−6 and 220 had nominal value of 10−5. The beta value for strongest associations ranged from 0.38 to 0.17 per allele, and overall explained just under 5% of total variance; signals identified mapped to either intronic or intergenic regions. GWAS SNPs were successfully replicated in ALSPAC, Hyderabad and remainder of ACCT. The combined analysis of three studies revealed seven genetic loci associated significantly with aPWV (p<10−9).


We identified, several genetic loci that, individually and in aggregate, substantially associate with risk of premature large artery stiffening (LAS). Fine mapping these signals will offer important insights into the patho-physiology of LAS.

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Yasmin, McEniery, C., Cleary, S. et al. 1.1 Genome Wide Association Scan Identifies Loci for Arterial Stiffness in Young Healthy Adults. Artery Res 8, 122 (2014).

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