Chromosome - 17 SNP - rs6258 Gene Name - SHBG

Basic Information

  • SNP rs6258
  • Chromosome 17
  • Gene Name SHBG
  • Weight of evidence 49
Genotype Frequency
  • CC
  • CT
Allele Frequency
  • C

SNP Expression Description

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General SNP Description

This SNP is associated with serum testosterone levels, by affecting the binding of sex hormone-binding globulin (SHBG) to testosterone and therefore affects free testosterone in the body. Testosterone is one of the most important hormones in the male body. Low serum testosterone levels are associated with cardiovascular morbidity, metabolic syndrome, type 2 diabetes mellitus, atherosclerosis (hardening of the arteries), osteoporosis, sarcopenia (degenerative loss of skeletal muscle mass), and increased mortality risk. Metabolic syndrome collectively is a group of risk factors that occur together and increase the risk for coronary artery disease, stroke, and type 2 diabetes mellitus. Therefore, testosterone levels can be used as a crude predictor of a man’s overall health. This SNP is also one of the genetic risk factors for Hepatopulmonary ¬†Syndrome in patients with advanced liver disease. Hepatopulmonary Syndrome is characterized by dyspnea or shortness of breath and hypoxemia or low oxygen levels in the blood of the arteries, which is caused by vasodilation or the broadening of the blood vessels in the lungs of patients with liver disease. Based on research to date, best treatment option is a liver transplant. The protein encoded by this gene is a steroid binding protein that is mainly secreted by the liver. It transports androgens and estrogens through the blood and regulates plasma metabolic clearance rate of steroid hormone 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.

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