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COL4A1 Is Associated With Arterial Stiffness by Genome-Wide Association Scan

Summary: COL4A1 Is Associated With Arterial Stiffness
by Genome-Wide Association Scan
Kirill V. Tarasov, MD, PhD*; Serena Sanna, PhD*; Angelo Scuteri, MD, PhD;
James B. Strait, MD, PhD; Marco Orru`, MD; Afshin Parsa, MD, MPH; Ping-I Lin, MD, PhD;
Andrea Maschio, PhD; Sandra Lai, PhD; Maria Grazia Piras, PhD; Marco Masala, PhD;
Toshiko Tanaka, PhD; Wendy Post, MD, MS; Jeffrey R. O'Connell, PhD; David Schlessinger, PhD;
Antonio Cao, MD; Ramaiah Nagaraja, PhD; Braxton D. Mitchell, PhD; Gonc¸alo R. Abecasis, PhD;
Alan R. Shuldiner, MD; Manuela Uda, PhD; Edward G. Lakatta, MD; Samer S. Najjar, MD
Background--Pulse wave velocity (PWV), a noninvasive index of central arterial stiffness, is a potent predictor of
cardiovascular mortality and morbidity. Heritability and linkage studies have pointed toward a genetic component
affecting PWV. We conducted a genome-wide association study to identify single-nucleotide polymorphisms (SNPs)
associated with PWV.
Methods and Results--The study cohort included participants from the SardiNIA study for whom PWV measures were
available. Genotyping was performed in 4221 individuals, using either the Affymetrix 500K or the Affymetrix 10K
mapping array sets (with imputation of the missing genotypes). Associations with PWV were evaluated using an
additive genetic model that included age, age2
, and sex as covariates. The findings were tested for replication in an
independent internal Sardinian cohort of 1828 individuals, using a custom chip designed to include the top 43
nonredundant SNPs associated with PWV. Of the loci that were tested for association with PWV, the nonsynonymous
SNP rs3742207 in the COL4A1 gene on chromosome 13 and SNP rs1495448 in the MAGI1 gene on chromosome 3 were


Source: Abecasis, Goncalo - Department of Biostatistics, University of Michigan


Collections: Biology and Medicine; Mathematics