Chromosome - 17 SNP - rs6257 Gene Name - SHBG

Basic Information

  • SNP rs6257
  • Chromosome 17
  • Gene Name SHBG
  • Weight of evidence 5
Genotype Frequency
  • TT
  • CT
Allele Frequency
  • T
  • C

SNP Expression Description

How does this fit in to your daily life?

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General SNP Description

This SNP is associated with increased susceptibility of breast cancer risk in post-menopausal women. In addition to that, a different study showed that this SNP had 10% lower plasma levels of  sex hormone binding globulin (SHBG). This finding correlates lower SHBG levels with a higher risk for Type 2 Diabetes. This SNP is also associated with SHBG serum levels, which in turn influences estrogen levels and activity on target tissues, such as bone density. Therefore, there is some correlation between SHBG serum levels and bone density. Post-menopausal women who were carriers of the C allele of this SNP, who consumed 2 or more cups of coffee a day were associated with a lower Type 2 Diabetes risk. The SHBG gene encodes for a steroid binding protein that binds estrogens and androgens in the blood. Mainly it is secreted by the liver and participates in the regulation of metabolic clearance rate of steroid hormones by controlling their plasma concentration. Metabolic clearance rate is the rate at which the waste products of steroid hormones are cleared from the blood. It also serves as a transport carrier protein and transports estrogen and testosterone to sex hormone receptors throughout the body. Testosterone and estradiol circulate in the bloodstream and are mainly bound to SHBG and to a lesser extent to serum albumin and to corticosteroid-binding globulin (CBG). Only a small fraction of them are “unbound” or rather are freely circulating through the bloodstream and therefore are able to enter a cell and activate its receptor. Since SHBG binds testosterone and estradiol it inhibits the function of these hormones. In other words, bioavailability of sex hormones is influenced by the level of SHBG.

For more information, please schedule a consult with one of our HealthCoach7 Genetic Specialist.