The PALMD risk variant rs6702619 was significantly associated with an increased risk of calcific aortic valve stenosis (OR 1.29) and decreased mRNA expression levels of PALMD in valve tissues.
Case-Control (n=2,026)
Yes
Are genetic variants in PALMD associated with susceptibility to calcific aortic valve stenosis?
The identification of PALMD as a susceptibility gene for calcific aortic valve stenosis provides new insights into the genetic etiology of the disease.
Odds Ratio: 1.29 (95% CI 1.14–1.46)
p-value: p=6.12e-05
Abstract Calcific aortic valve stenosis (CAVS) is a common and life-threatening heart disease and the current treatment options cannot stop or delay its progression. A GWAS on 1009 cases and 1017 ethnically matched controls was combined with a large-scale eQTL mapping study of human aortic valve tissues ( n = 233) to identify susceptibility genes for CAVS. Replication was performed in the UK Biobank, including 1391 cases and 352,195 controls. A transcriptome-wide association study (TWAS) reveals PALMD (palmdelphin) as significantly associated with CAVS. The CAVS risk alleles and increasing disease severity are both associated with decreased mRNA expression levels of PALMD in valve tissues. The top variant identified shows a similar effect and strong association with CAVS ( P = 1.53 × 10 −10 ) in UK Biobank. The identification of PALMD as a susceptibility gene for CAVS provides insights into the genetic nature of this disease, opens avenues to investigate its etiology and to develop much-needed therapeutic options.
Thériault et al. (2018) conducted a case-control in Calcific aortic valve stenosis (n=2,026). PALMD risk variant rs6702619 vs. Reference allele was evaluated on Risk of calcific aortic valve stenosis (OR 1.29, 95% CI 1.14-1.46, p=6.12e-05). The PALMD risk variant rs6702619 was significantly associated with an increased risk of calcific aortic valve stenosis (OR 1.29) and decreased mRNA expression levels of PALMD in valve tissues.