Genetic testing has made it possible to gain a deeper understanding of one’s own hormone balance and its changes. Hormones are one of the factors that have a major impact on our health, with sex hormones, stress hormones, and growth hormones being prime examples. Genetic differences affect the secretion and metabolism of these hormones, contributing to a variety of health conditions. This article explains how genetic testing is related to hormone balance and health, and how it can be utilized.
Hormones are chemicals secreted by various organs and tissues in the body and regulate specific physiological processes. For example, the sex hormones estrogen and testosterone are deeply involved in gender and reproductive function, while the stress hormone cortisol affects stress response and energy metabolism. The secretion levels and effects of these hormones vary depending on genetic and environmental factors.
1-2. The relationship between genes and hormone balance
Many genes play a role in hormone secretion, receptor function, and metabolism. How these genes function determines an individual’s hormone balance. For example, the estrogen receptor gene (ESR1) affects the action of estrogen, and the CYP19A1 gene regulates estrogen synthesis. Genetic testing can reveal these gene mutations and help understand how hormone balance is affected.
Sex hormones play an important role in regulating female and male reproductive function. Representative hormones include estrogen, progesterone, and testosterone. When these hormones are out of balance, it is known that they can cause irregular menstruation, infertility, decreased libido, and even an increased risk of osteoporosis and cardiovascular disease.
Genetic testing can predict future health risks by identifying genetic predispositions related to the metabolism and receptors of these hormones. For example, mutations in genes such as BRCA1 and BRCA2 increase the risk of breast cancer and ovarian cancer, but understanding the relationship between these risks and hormones makes it possible to take preventative measures。
The stress hormone cortisol is secreted when the body responds to stress, affecting the immune system, metabolism, blood pressure, and more. It is known that cortisol secretion and responses vary genetically, and genetic testing can identify gene mutations related to stress hormones. This makes it possible to predict health risks caused by chronic stress and excessive cortisol secretion and take early action.
Menopause is a time of significant hormonal changes for women. Secretion of estrogen and progesterone declines rapidly, resulting in a variety of symptoms. These hormonal changes can cause irregular periods, hot flashes, sweating, decreased bone density, and increased cardiovascular risk. Genetic testing can help understand a woman’s susceptibility to these hormonal changes and allow for personalized treatment and lifestyle changes.
Genetic testing can predict the risk and severity of menopausal symptoms. Certain genotypes have been shown to influence susceptibility to menopausal symptoms, allowing for earlier initiation of hormone replacement therapy (HRT) and lifestyle changes.
4-1. Relationship between estrogen and bone density
Estrogen plays an important role in maintaining bone density and is closely related to the risk of osteoporosis, especially in women. A decrease in estrogen causes a decrease in bone density and increases the risk of fractures. By identifying genetic factors that affect bone density through genetic testing, personalized prevention and treatment methods can be adopted.
Osteoporosis is influenced by genetic factors as well as hormonal imbalance. Mutations in the VDR gene (vitamin D receptor gene) and the COL1A1 gene (collagen gene) are involved in bone strength, and testing for these genes makes it possible to identify the risk of osteoporosis at an early stage.
5. The relationship between thyroid hormones and genes
Thyroid hormones are important hormones involved in metabolism, body temperature regulation, and energy production. Too little thyroid hormone secretion can cause “hypothyroidism,” while too much can cause “hyperthyroidism,” resulting in symptoms such as fatigue, weight fluctuations, and abnormal heart rate.
5-1. Thyroid hormones and genetic factors
Several genes are involved in the production and regulation of thyroid hormones. In particular, the TSHR gene (thyroid-stimulating hormone receptor gene) and the DUOX2 gene (involved in thyroid hormone synthesis) are important for maintaining thyroid function.
Mutations in the TSHR gene may increase the risk of excessive thyroid hormone production (Graves’ disease) or low thyroid hormone production (hypothyroidism).
Mutations in the DUOX2 gene : These mutations affect the ability of the thyroid gland to synthesize thyroid hormones and can lead to congenital hypothyroidism.。
5-2. Genetic testing for thyroid function and health management
Thyroid hormone abnormalities are influenced not only by genetic factors but also by environmental factors (stress, iodine intake, autoimmune diseases). However, by utilizing genetic testing, it is possible to know in advance the risk of thyroid hypofunction or hypersecretion and take appropriate preventive measures.
For example, people at high risk for hypothyroidism can prevent the onset of the condition by ensuring adequate iodine intake, while those at high risk for hyperthyroidism need to stabilize their hormone balance through stress management and improved diet.
Insulin is a key hormone that regulates blood sugar levels, and genetic factors play a major role in insulin sensitivity and diabetes risk.
6-1. Insulin secretion and genes
The main genes associated with diabetes are the TCF7L2 gene and the PPARG gene .
Mutations in the TCF7L2 gene : People with mutations in this gene are more likely to have reduced insulin secretion and are at higher risk of type 2 diabetes.
Mutations in the PPARG gene : This gene is involved in fat metabolism and insulin sensitivity and may increase the risk of diabetes and obesity.
Genetic testing can help prevent diabetes by identifying genetic factors that affect insulin secretion and sensitivity. For example, people with a mutation in the TCF7L2 gene are advised to adjust their carbohydrate intake and follow a diet that prevents a sudden rise in blood sugar levels after meals.
Additionally, people affected by the PPARG gene can improve their insulin sensitivity through moderate exercise and a diet balanced in fats.
7. Personalized medicine utilizing genes and hormone balance
Advances in genetic analysis technology are making it possible to provide medical treatment based on an individual’s hormone balance (precision medicine).
7-1. Hormone therapy using genetic testing
Selecting the most appropriate hormone therapy based on the results of genetic testing can lead to more effective treatment.
Estrogen replacement therapy (HRT) : Because the effectiveness of HRT and the risk of side effects vary depending on your genotype, genetic testing can help you create the best hormone replacement plan for you.
Testosterone replacement therapy (TRT) : Testing for genes involved in testosterone metabolism (such as SRD5A2) can help determine the appropriate dosage and minimize side effects.
8. The relationship between sleep hormones and genes
Sleep is essential for health, and the hormone melatonin is involved in regulating it. The amount and rhythm of melatonin secretion vary depending on genetic factors, and affect sleep quality and circadian rhythms (body clocks).
8-1. Melatonin secretion and genes
The CLOCK gene and MTNR1B gene are involved in the synthesis and secretion of melatonin .
Mutations in the CLOCK gene : Affects circadian rhythm regulation, making people more susceptible to insomnia and jet lag.
Mutations in the MTNR1B gene : Affects the melatonin receptor and may be related to glucose metabolism and sleep disorders.
Exercise has a significant impact on hormone secretion, but it is known that the effects vary depending on each individual’s genetic characteristics.
9-1. Exercise stimulates growth hormone secretion
Growth hormone (GH) is a hormone that promotes muscle growth and fat metabolism, and the GHRL gene and GHR gene are involved in its secretion and receptors.
Mutations in the GHRL gene affect the amount of growth hormone secreted, which may affect the rate at which muscle growth occurs with exercise.
Mutations in the GHR gene : Changes the sensitivity of growth hormone receptors, resulting in differences in the effects of training.
Testosterone is a hormone that promotes muscle growth, and its secretion amount and effect vary depending on genes. The **AR gene (androgen receptor gene)** is known as a gene that regulates the action of testosterone.
Mutations in the AR gene : These can strengthen or weaken the effects of testosterone, resulting in differences in the rate of muscle growth and strength development.
Those with a genetic gene that produces low levels of testosterone can improve their hormone levels through strength training and proper nutrition.
A woman’s hormone balance changes significantly at each stage of life, and genetic factors influence this.
11-1. Pregnancy and hormonal changes
During pregnancy, estrogen and progesterone levels increase rapidly, which helps maintain fetal growth and maternal health. However, it is known that genetic factors affect the likelihood of conception and the risk of complications.
Mutations in the MTHFR gene : This gene is involved in folate metabolism, and certain mutations may increase the risk of folate deficiency during pregnancy and may increase the risk of neural tube defects in the fetus.
Mutations in the FTO gene : It has been suggested that this increases the risk of gestational diabetes, and early intervention is possible by identifying the risk through genetic testing.
After menopause, the decline in estrogen increases the risk of cardiovascular disease and osteoporosis, and research shows that these risks vary depending on your genes.
Mutations in the ESR1 gene : Changes the sensitivity of the estrogen receptor and affect the risk of bone mineral density loss.
Mutations in the LPL gene : Involved in lipid metabolism and influences postmenopausal weight gain and cardiovascular risk.
For men, hormone balance plays an important role in maintaining good health, especially testosterone , which influences muscle growth, energy maintenance, and mental health.
12-1. Testosterone decline and genes
As we age, testosterone secretion declines, leading to fatigue, muscle weakness, and decreased libido . It has been shown that the rate at which this hormone declines varies depending on genotype.
Mutations in the SHBG gene : This gene regulates the production of sex hormone-binding globulin (SHBG) and affects the biological activity of testosterone.
Mutations in the CYP17A1 gene : involved in testosterone synthesis, and certain mutations are associated with low testosterone.
Testosterone levels are crucial to performance in sports and fitness, and genetic testing can identify individual differences in muscle growth and recovery.
Mutations in the AR gene affect the sensitivity of the androgen receptor, altering the rate of muscle growth.
Mutations in the NR3C4 gene : Enhance or weaken the effects of testosterone, affecting the effectiveness of training.
Hormonal imbalance also plays a role in depression, anxiety, and stress tolerance .
13-1. Serotonin and genes
Serotonin is known as the “happiness hormone” and is important for stabilizing mood. Genetic factors affect the amount of serotonin secreted and the sensitivity of receptors.
Mutations in the 5-HTTLPR gene : Regulates the function of the serotonin transporter and affects anxiety and stress tolerance.
Mutations in the MAOA gene : Regulates the breakdown of serotonin and is associated with aggression and depression risk.
The amount of the stress hormone cortisol produced varies depending on an individual’s genotype, and excess cortisol production can lead to chronic stress and insomnia.
Mutations in the NR3C1 gene affect the cortisol receptor, leading to differences in stress response.
Mutations in the CRHR1 gene : Regulates the secretion of stress hormones and is associated with the risk of anxiety disorders and PTSD.
14. The relationship between hormone balance and longevity
Maintaining proper hormone balance also affects the rate of aging and lifespan . It is known that genetic differences lead to individual differences in the secretion of longevity hormones and their effects.
14-1. IGF-1 (insulin-like growth factor) and lifespan
IGF-1 is a hormone that is influenced by growth hormone and regulates cell growth and metabolism. Appropriate secretion of IGF-1 contributes to muscle maintenance and bone health, but excess IGF-1 may increase the risk of cancer .
Mutations in the IGF1R gene : Changes the sensitivity of the IGF-1 receptor, affecting cell proliferation rate and lifespan.
Mutations in the FOXO3 gene , which regulates IGF-1 signaling and has been associated with longevity.
Melatonin is a hormone with antioxidant properties, and its secretion level decreases with age. Genetic differences have been shown to affect melatonin secretion patterns and its anti-aging effects.
Mutations in the MTNR1A gene : Alters the sensitivity of melatonin receptors, affecting sleep quality and the aging process.
Mutations in the SIRT1 gene : May maintain mitochondrial function and suppress cellular aging through the action of melatonin.。
Genetic testing allows us to understand individual differences in hormone balance, enabling more appropriate health management and disease prevention. Because the secretion and function of hormones such as estrogen, testosterone, cortisol, and insulin vary depending on genetic factors, it is important to take optimal measures for each individual. Advances in AI and gene editing technology will make it possible to more precisely adjust hormone balance, potentially extending healthy lifespans.
