Higher polygenic risk for melanoma is associated with improved survival in a high ultraviolet radiation setting

Table 2 Genetic variants for melanoma-specific survival in the discovery cohorts (MIA + UKB) and replication cohort (LMC)

						Meta-analysis of MIA and UKB							Meta-analysis of MIA, UKB and LMC
						Fixed effects		Random effects		Heterogeneity			Fixed effects		Random effects		Heterogeneity
SNP	CHR	BP	Gene*	EA/ NEA	EAF	HR (95% CI)	P	HR (95% CI)	P	Direction	I²	Q	HR (95% CI)	P	HR (95% CI)	P	Direction	I²	Q
rs41309643	1	227,078,509	COQ8A/PSEN2	G/T	0.018	2.09 (1.61–2.71)	2.81 × 10^–8	1.89 (1.12–3.19)	0.0179	p + +	64.9	0.09	1.83 (1.45–2.30)	3.24 × 10^–7	1.58 (0.95–2.62)	0.078	p + + +	74.1	0.02
rs75682113	7	40,708,001	SUGCT	C/G	0.020	2.38 (1.77–3.21)	1.07 × 10^–8	2.38 (1.77–3.21)	1.07 × 10^–8	p + +	0.0	0.39	2.23 (1.68–2.95)	2.14 × 10^–8	2.17 (1.57–3.02)	3.45 × 10^–6	p + + +	19.6	0.29

MIA Melanoma Institute Australia cohort, UKB UK Biobank cohort, LMC Leeds Melanoma Cohort, SNP single nucleotide polymorphism, CHR chromosome, BP Hg19 base position, EA effect allele, NEA non-effect allele, EAF effect allele frequency reported from the Haplotype Reference Consortium (HRC), HR hazard ratio, CI confidence interval, P P-value. Gene* rs41309643 is an eQTL for the C0Q8A gene in blood (eQTL P = 9.3 × 10^–14), as well as closest to and an eQTL for the PSEN2 gene (eQTL P = 5.5 × 10^–5) in GTEx/v8

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