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Table 1 rs9349379 is an eQTL for PHACTR1 intermediate transcripts A+ and B+ in human coronary arteries (hCA)

From: PHACTR1 splicing isoforms and eQTLs in atherosclerosis-relevant human cells

Transcripts Beta (SE) P-value Variance explained (%)
Intermediates
A+ and A-
−0.49 (0.21) 0.026 7.8
Intermediates
B+ and B-
−0.54 (0.17) 0.0040 17.5
Intermediates
A+ and B+
−0.56 (0.19) 0.0073 16.4
Intermediates
A- and B-
−0.35 (0.21) 0.10
Short −0.068 (0.20) 0.73
  1. We tested by linear regression the association between genotypes at rs9349379 (additive model) and normalized expression levels for the different PHACTR1 transcripts expressed in hCA. The long PHACTR1 transcript is not expressed in hCA. Effect sizes (Beta) and standard errors (SE) are in standard deviation units. The direction of the Beta is for the G-allele. We analyzed 36 hCA samples (NAA = 15, NAG = 13, NGG = 8). The frequency of the G-allele was 40%. The G-allele, associated with increased coronary artery disease risk, is associated with reduced PHACTR1 expression. When significant (P-value < 0.05), we provided the percentage of PHACTR1 expression variation explained by genotypes at rs9349379