Extended Data Fig. 10: Breast cancer linked e/mQTLs in the TERT-CLPTM1L locus. | Nature Genetics

Extended Data Fig. 10: Breast cancer linked e/mQTLs in the TERT-CLPTM1L locus.

From: DNA methylation QTL mapping across diverse human tissues provides molecular links between genetic variation and complex traits

Extended Data Fig. 10

Colocalized molecular phenotypes for this locus, identified by breast cancer GWAS-QTL multivariate colocalization approach (Methods), are provided in the top summary table. The mQTLs colocalizing with these breast cancer GWAS signals (that is, mCpGs cg03935379 and cg07380026) are shown in Fig. 5a, b. Additional details are provided in Supplementary Table 8. Plots illustrate association p-values in the locus for breast cancer estrogen positive (ER+) GWAS (top panel), breast cancer estrogen negative (ER−) GWAS (middle panel) and TERT eQTL signal in induced pluripotent stem cells (iPSCs) (bottom panel). Genotype-phenotype association p-values correspond to rs10069690, lead signal for breast cancer ER- GWAS. Linkage disequilibrium between loci is quantified by squared Pearson coefficient of correlation (r2) in population from European origin. Breast GWAS p-values were obtained from Milne et al. 2017, and iPSC TERT eQTL p-values from Bonder et al 2021. Mb: mega base. P-values correspond to nominal GWAS or QTL associations, derived from multiple regression two-sided t-tests.

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