Genome-wide association studies on serum sex steroid levels

Mol Cell Endocrinol. 2014 Jan 25;382(1):758-766. doi: 10.1016/j.mce.2013.03.009. Epub 2013 Mar 28.


Even though the levels of circulating sex steroid hormones are to a large extent heritable, their genetic determinants are largely unknown. With the advent of genome-wide association studies (GWAS), much progress has been made and several genetic loci have been identified to be associated with serum levels of dehydroepiandrosterone sulfate, testosterone and sex hormone-binding globulin. The variants identified so far only explain a small amount of the overall heritability, but may help to elucidate the role of sex steroid hormones in common disorders such as hypogonadism, type 2 diabetes and hormone-sensitive cancers. This review provides an overview of the current state of knowledge of the genetic determinants of sex steroid hormones, with a focus on recent GWAS and brief directions for elucidating the remaining heritability.

Keywords: Dehydroepiandrosterone; Estradiol; Genome-wide association studies; Hypogonadism; Sex hormone-binding globulin; Testosterone.

Publication types

  • Review

MeSH terms

  • Dehydroepiandrosterone Sulfate / blood
  • Genome-Wide Association Study*
  • Gonadal Steroid Hormones / blood*
  • Gonadal Steroid Hormones / genetics
  • Humans
  • Sex Hormone-Binding Globulin / genetics
  • Sex Hormone-Binding Globulin / metabolism
  • Testosterone / blood
  • Testosterone / genetics


  • Gonadal Steroid Hormones
  • Sex Hormone-Binding Globulin
  • Testosterone
  • Dehydroepiandrosterone Sulfate