Genetic Variant Rs17185536 Regulates Sim1 Gene Expression In Human Brain Hypothalamus

Recently in PNAS, Jorgenson et al. (1) conducted a large-scale genome-wide association study (GWAS) to identify genetic variants associated with erectile dysfunction. In the discovery stage, Jorgenson et al. (1) analyze the erectile dysfunction GWAS dataset in 36,649 men in the multiethnic Kaiser Permanente Northern California Genetic Epidemiology Research in Adult Health and Aging cohort. They identify the genetic variant rs17185536 on chromosome 6 near the single-minded family basic helix-loop-helix transcription factor 1 ( SIM1 ) gene to be significantly associated with the risk of erectile dysfunction (odds ratio for T allele = 1.26, P = 3.40E-25) (1). In the replication stage, Jorgenson et al. (1) analyze the erectile dysfunction GWAS dataset in 222,358 men from the UK Biobank, and replicated this association (odds ratio for T allele = 1.25, P = 6.80E-14).It has been reported that mouse Sim1 is expressed in the developing kidney and … [↵][1]1To whom correspondence may be addressed. Email: qhjiang{at}hit.edu.cn or jinsl{at}hit.edu.cn. [1]: #xref-corresp-1-1