Fig. 3: The aneuploidy risk haplotype is associated with lower expression of SMC1B, driven by two independent causal signals.
From: Common variation in meiosis genes shapes human recombination and aneuploidy
a, Schematic of the meiotic cohesin complex. b, Each copy of the aneuploidy risk allele is associated with reduced expression of SMC1B in human lymphoblastoid cell lines (LCLs; n = 731) from diverse populations. Bars represent the first and third quartiles of the data, white points represent the second quartile (median) and whiskers are bound to 1.5× the interquartile range. c, Pairwise linkage disequilibrium between a set of SNPs including GWAS lead SNP rs6006737 and variants defining fine-mapped eQTL credible sets for SMC1B. d, Fine-mapped eQTL rs2272804 (credible set 1) lies within a putative promoter sequence within open chromatin, while variants defining a second credible set are distributed throughout the upstream region of SMC1B.
