Genetics of Blood: Study

A study of the genetics of blood in a global perspective would help identify which human populations are at a higher risk of developing a particular disease.

Genetic mutations on characteristics of the blood were studied by a group of researchers to understand the risk of developing a disease based on different human populations.

In one of the largest studies of its kind, published in Cell, close to 750,000 participants from five major populations -- European, African, Hispanic, East Asian and South Asian were tested.

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‘Study on the genetics of blood revealed around 5,000 mutations in the human DNA that affect the blood characteristics around the world. These studies could help predict which health populations are at a higher risk of contracting certain diseases.’
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Genetic mutations can influence physical characteristics like skin size or color. It can also play a role as a risk factor in certain diseases.

The researchers chose to study 15 characteristics of blood cells because previous studies had already uncovered mutations whose consequences were limited to certain populations.

The blood characteristics include such things as hemoglobin concentration and platelet counts.

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45 million genetic mutations

The researchers found more than 5,000 mutations in human DNA that affect the blood characteristics of populations around the world by testing more than 45 million genetic variations.

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They found that the vast majority of mutations associated with blood cells were common to all five major population groups.

But aside from these, the researchers also found about 100 mutations whose effect was restricted to certain populations and are not found in people of European descent.

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The researchers identified a mutation in the interleukin- 7 gene in individuals of South Asian origin.

This mutated gene stimulates the secretion of this molecule and thus increases the levels of lymphocytes (a type of white blood cell in the immune system) circulating in their blood.

This kind of mutation can affect the health of South Asian people. The mutation could influence the capacity of South Asians to resist certain infections or develop diseases like blood cancer.

The researchers cautioned that these are hypothesis at present, and they do not have the capacity to test them.

Improving ways of predicting

The researchers prioritized certain genes that have an overall effect on the blood cell population.

This identification could improve ways of predicting the risk of suffering from certain diseases and to develop new, more effective treatments, in the long term.

The obstacles for the research would include major investments, and researchers need to be convinced that it is important that all population groups globally need to be included in these types of genetic studies.

"Despite the size of our study, the vast majority of participants -- about 560,000 out of 740,000 individuals -- were of European origin," Lettre noted. "This necessarily introduces a bias into the study."

In the future, he said, "we hope to work with populations that have been little studied so far -- for example, East African populations or indigenous peoples -- in order to shed light on new genes that regulate blood cells."

Source-Medindia