The 9p21.3 locus and cardiovascular risk in familial hypercholesterolemia

Journal of Clinical Lipidology
Martine PaquetteAlexis Baass

Abstract

Carrying a risk variant in the 9p21.3 locus represents one of the strongest genetic risk factors for atherosclerotic cardiovascular disease (ASCVD) in the general population. However, the effect of these polymorphisms in patients with familial hypercholesterolemia (FH) has never been studied. The objective of this study was to investigate the association between the sentinel 9p21.3 single nucleotide polymorphisms (SNP) rs1333047 and ASCVD susceptibility in FH subjects. A total of 20,434 Caucasian patients with dyslipidemia were screened, of which 725 FH were included in this study. The risk allele (T) of the rs1333047 SNP has previously been shown to confer increased ASCVD risk compared with the control allele (A). In a model adjusted for traditional cardiovascular risk factors, carrying the risk allele was associated with a 42% increased ASCVD susceptibility per allele, according to an additive model (odds ratio = 1.42; 95% confidence interval, 1.05-1.91; P = .02). On average, 0.53 cardiovascular event was observed in AA carriers, compared with 0.83 in the TT group (P = .02). The mean age of first ASCVD event was similar among the 3 variants. The 9p21.3 SNP rs1333047 SNP was associated with increased ASCVD in FH subjects. Gene...Continue Reading

Citations

Jan 23, 2018·Current Opinion in Lipidology·Martine PaquetteAlexis Baass
May 1, 2018·Current Opinion in Lipidology·Martine Paquette, Alexis Baass
Jul 6, 2018·Nature Reviews. Cardiology·Amanda J Berberich, Robert A Hegele
Jan 25, 2020·Nature Reviews. Cardiology·Gerald F WattsKausik K Ray
Jul 22, 2019·Journal of Molecular Neuroscience : MN·Xiaosheng ChenYi Huang
Mar 25, 2020·Trends in Cardiovascular Medicine·Vanessa BianconiUNKNOWN International Lipid Expert Panel (ILEP)
Jun 17, 2021·Journal of Clinical Lipidology·Manon FantinoAlexis Baass

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