Fragile Bones? Your Genes Might Be The Reason


Sameer and Raghav met with a small accident during their office picnic at a hill-station. They fell from a same height. Both are almost of similar age. Sameer is a well-built guy, while Raghav is lean and lanky. However, Raghav got just a few bruises and swollen leg, Sameer got a fracture on his arm. How? This is also commonly observed amongst children. Some get a fracture while some just get bruised while playing. The reason behind this can be your genetic make-up.

Genetics and bone health

A new study by researchers at Montreal’s McGill University discovered a rare genetic variant that impacts largely on bone mineral density and the disposition of some people to fracture bones more easily than others. This study tries to identify the rare variants that have a strong influence on common traits and diseases. Upto 75 % of the total genetic effect on bone density depends on a single gene. Compared to the West, the patients of low bone health in India are almost 10 years younger and the number is growing continuously.

In many physical conditions, genes play a crucial role in heritability, i.e. the variation of a condition due to genetics. In case of bone mineral density, it is about 85 percent.

The approach taken in this study included exome sequencing, whole genome sequencing, and genotypic data to find rare and non-coding genetic variants. It allowed them to find a rare non-coding variant that had a four times more effect on bone mineral density than the average effect of all other variants. Thus, it suggests that the gene has an important functional role in bone development.

Image credits - primarycareofappleton.com
Image credits – primarycareofappleton.com

Brittle Bone Disease

Brittle Bone disease is a disorder that results in fragile bones. Our bones are made of a mineral and protein, filled with bone cells. Bone is continually broken down and replaced. When the rate of bone loss is more than the rate of replacement, bones become weak, eventually leading to increased risk of fracture. It is present since birth in individuals who have a family history of the disease. Bone density is a medical term which refers to the amount of mineral matter per square centimeter of bones. This disease affects around 6 to 7 per 100,000 people around the globe. In India, occurrence of this disorder is more common amongst women.

Personal Genome Analysis

Our genes have 30% influence on our bone health. Along with our genes, bone health depends on many other factors such as age, diet, and proper exercise. Poor sunlight exposure, overuse of sun blocks, low calcium intake are some causes for lack of Vitamin D. Datar Genetics Limited offers Personal Genome Analysis- a test with many other parameters, analyses your bone density, and your bone health.

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Personal Genome Analysis – A Test to know yourself better


On April 6, 2003, NBC journalist David Bloom, 39 died after spending long hours in a tank with limited mobility while covering Iraq invasion. Later it was discovered that it was a pulmonary embolism — a blood clot that moved from the leg to the lung. It is caused by a condition called deep-vein thrombosis. He wasn’t aware of the fact that he was genetically predisposed to blood-clots. If he had known about this condition, his life would have been saved with precautionary measures. Knowing your genetic condition is very important, which is highlighted from the above incidence.

DNA in cells governs many of your physical characteristics like height, colour of eyes, texture and colour of hair, and so on. Genes are inherited from the biological parents and that’s how characteristics of your parents and grandparents affect the children. Along with characteristics, other factors like risk to certain physical conditions/ diseases are also caused by genetic predisposition. E.g. Obesity is caused by genetic predisposition in 70% cases. That is why it becomes very important to know and explore your genes.

Genome exploration means revealing the information on one’s genome using the landmarks or Single Nucleotide Polymorphism which would help us reach a particular risk or predisposition. Genomes are the set of genes or genetic material present in a cell.

Genetics is important because of the below mentioned factors-

  • Blue print of our individual existence.
  • Plays crucial role in treatment of various diseases.
  • Genetic diseases which are undiagnosed or diagnosed late.
  • Affects quality of life.

It helps clinicians as they can utilize genetic discoveries to provide efficient drugs and predictive information to create personalized lifestyle management for you. It also develops therapeutics and health management tools to help prevent disease and engage individuals to actively participate in their healthcare decisions.

Genome-wide association study (GWAS) and Indian population

When adapting genome tests for India; diseases, disorders, and other conditions specific for Indian region need to be considered. Beta Thalassemia is the most common genetic disorder. Specific mutations for Beta Thalassemia, which are well known to be present in Indian population, are analyzed.

Next, all the allele frequencies are adapted according to the actual frequencies in Indian population. This was done using the genotyping data, processed till date (more than 1 000 people), for every single mutation. Valid allele frequencies are important as they affect the final risk calculation for development of the disease.

Personal Genetic Analysis is recommended for you if:

You have a family history of certain diseases.

You would like to adjust your lifestyle according to your genes.

You want to know your risks and hidden talents.

You realize that prevention is better than cure.

In the PGA report, your risk of getting a particular condition/disease is given in comparison with the risk in general population. Risk does not mean presence of disease or certainty of developing the disease, because both genetic as well as environmental factors are responsible for the onset of a disease. E.g. Genes influence Iron Metabolism in about 30% of cases while diet and environment influence iron metabolism in 70% cases.

The report also reveals your inherent metabolic response to various food components like carbohydrates, fats, protein and various vitamins.

PGA DTR

 “Our genomes truly are a fundamental part of us. They are what make us human, including the distinctively human ability to learn and create culture. They account for at least half of what makes us different from our neighbors. And though we can change both inherited and acquired traits, changing the inherited ones is usually harder.”– Steven Pinker, Cognitive Scientist.

 

 

 

 

 

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