DNA Osteoporosis Test

What is osteoporosis?
Osteoporosis is a common disease affecting the elderly. It is characterized by low bone mass and the deterioration of bone tissue. Affected individuals have weak, porous and brittle bones and are susceptible to bone fractures, particularly in the hip, spine or lower arm, often with only minimal trauma. It is known as “the silent thief”, as there are no symptoms of bone loss until a painful fracture occurs. Osteoporosis becomes more common with age, and fractures from osteoporosis are more common than heart attack, stroke and breast cancer combined.

What is osteoarthritis?
Osteoarthritis is a joint disease, due to the breakdown of cartilage within the joints and the surrounding bone tissue. Affected individuals suffer from joint swelling, pain and reduced joint motion. Commonly affected joints are in the hands, lower back, hips and knees.

Bone health
Strong, healthy bones are important for providing structure, anchoring muscles and ligaments, protecting our internal organs and storing essential minerals. From birth until the age of 30, new bone is produced more quickly than old bone is broken down, reaching a peak bone mass at approximately 30 years of age. Bone remodelling continues throughout adulthood, but bone mass slowly decreases, as the old bone removal is quicker than new bone production. Poor bone health, reduced bone growth as a child and greater than normal bone loss as an adult can all contribute towards an increased risk of osteoporosis and osteoarthritis.

What factors affect bone health?

  • Genetic variation explains up to 85% of bone mineral density
  • Gender: Females generally have lower bone mass
  • Menopause: Decreasing estrogen increases osteoporosis risk
  • Testosterone: Lower testosterone results in a lower bone mass
  • Ethnicity: Hispanics and African Americans have higher bone mass and
    reduced osteoporosis risk (compared to Caucasians and Asians)
  • Physical activity: Weight-bearing exercises help strengthen bones
  • Medications: Long-term use can reduce bone mass (e.g. corticosteroids)
  • Nutrition: Reduced calcium and vitamin D uptake results in brittle bones

Genetic variants affecting bone health
An understanding of genetic susceptibility allows individuals to implement strategies early to delay the onset of bone health complications and reduce the severity of bone loss. This test identifies genetic variants in five genes that affect vitamin D levels, the Wnt signalling pathway, bone, joint and cartilage maintenance, and collagen production.

Vitamin D
Vitamin D is an essential fat-soluble vitamin required for the absorption of other nutrients, particularly calcium and phosphate. Decreased vitamin D levels and activity result in reduced calcium absorption and increased risk of osteoporosis.

  • CYP2R1 encodes an enzyme responsible for converting vitamin D (from the diet or triggered by sun exposure) into a physiologically active form. Variants of this enzyme are associated with reduced enzyme activity and reduced levels of active vitamin D.
  • GC encodes the vitamin D binding protein, which is required to transport active vitamin D around the body and into the cells. Variations of this protein reduce the efficiency of vitamin D transport and cellular uptake.

The Wnt signaling pathway
The Wnt signalling pathway is one of the most important pathways in several biological processes, including bone biology. The Wnt cascade is especially important for signalling the differentiation of mesenchymal stem cells into osteoblasts – the cells responsible for bone formation.

  • WNT16 encodes a protein from the Wnt signalling pathway. Inactivating variations in this gene disrupt the Wnt cascade, resulting in reduced osteoblasts and bone formation. This leads to decreased bone density and an increased risk of osteoporosis.

Bone, joint and cartilage maintenance
The maintenance, development and repair of bones, joints and cartilage is a lifelong process, but decreases as we age. Many elderly people suffer from osteoarthritis, which occurs when the protective cartilage breaks down, leading to joint pain, stiffness and inflammation.

  • GDF5 encodes an important regulator protein for the maintenance, development and repair of bones, joints and cartilage. A variant of GDF5 reduces the expression of the regulator protein and increases the risk of osteoarthritis and fractures.

Collagen
Collagen is an essential strength and structural component and the most abundant protein in mammals. It exists as a rigid form in bones, a gradient form in cartilage and a compliant form for many other tissues.

  • COL1A1 encodes the major component of type I collagen, found in bone, skin and tendons. A variant of COL1A1 affects the formation of this collagen and is associated with decreased bone mineral density and osteoporosis in postmenopausal women.

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