Genetic variants of HIF1α are associated with right ventricular fibrotic load in repaired tetralogy of Fallot patients: a cardiovascular magnetic resonance study

Table 3 Significant associations between SNPs within HIF1α and fibrotic score among white cases with repaired tetralogy of Fallot

SNP^a	Position^b	Risk allele	Function	Fibrotic score		N	CADD score^e	GWAVA TSS score^f
SNP^a	Position^b	Risk allele	Function	p-value^c	RR (95% CI)^d	N	CADD score^e	GWAVA TSS score^f
rs76308410 rs11549465 rs74481028	62,171,263 62,207,557 62,213,060	T T G	Intronic Missense Intronic	0.04 0.04 0.04	1.43 (1.14, 1.79) 1.43 (1.14, 1.78) 1.37 (1.11, 1.70)	124 125 125	11.49 21.20 0.12	0.17 0.31 0.13
rs7161527 rs10147275 rs2057482	62,202,799 62,213,553 62,213,848	T T T	Intronic Intronic Regulatory	0.04 0.04 0.04	1.33 (1.09, 1.62) 1.33 (1.09, 1.62) 1.33 (1.09, 1.62)	125 125 125	1.58 0.01 8.57	0.11 0.15 0.57

HIF1α hypoxia inducible factor-1-alpha, RR relative risk, SE standard error, SNP single nucleotide polymorphism, TSS transcription start site
^a The line demarcates variants that are in linkage disequilibrium (i.e., highly correlated) based on LDlink’s SNPclip (R² = 0.8, MAF = 0.01). The top three SNPs are at least 80% correlated and bottom three SNPs are at least 80% correlated. The full results for the association between fibrotic score and each of the 48 variants are available in Additional file 1: Table S2
^b Position is based on the information from Genome Reference Consortium Human Build 37 (GRCh37) (also known as hg19)
^c P-values are adjusted using false discovery rate to account for multiple testing
^d Adjusted for time between surgical repair and the first CMR, time between the first and second CMR
^e Scaled Combined Annotation Dependent Depletion (CADD) - variants with CADD >10 are predicted to fall in the top 10% of the most deleterious variants in the genome
^f Genome-Wide Annotation of Variants (GWAVA) score - predicts the functional impact of non-coding variants/regions (range 0–1)

ISSN: 1532-429X