What is the genetics of Peruvians | Ricardo Fujita responds: “If we put all Peruvians in a blender, 70% of our genome is indigenous and Andean” | What origins do Peruvians have?

The Commerce contacted Dr. Fujita at an exciting time for his research, as technology firm MGI Tech has just announced the installation of next-generation genomic sequencing (NGS) technologies in the Faculty’s Genetics and Molecular Biology Research Center laboratory. of Human Medicine at the San Martín de Porres University (USMP), a milestone that will significantly enhance the institution’s genetic research by allowing large-scale studies of human genomes, exomes and metagenomics with greater speed and precision within Peru and Andean countries. Something particularly relevant, since Peruvians are in 80% of the world’s populations not represented in medical and genomic studies, something that not only blinds us to our history, but also complicates the treatment of genetic illnesses.

-Genetically speaking, what is Peruvian?

Genetically, the Peruvian is a mixture of several origins. In a study we carried out in 2013 where we compared the genetic markers of 90 communities nationwide, we discovered that, if we put all Peruvians in a blender, we found that 70% of our genome is indigenous and native. Be careful, with these terms I am not only referring to people with Amazonian and Andean roots, but also to groups that no one thinks are included, such as for example on the coast of Peru we have surnames like Yaipén or Guapaya, which are neither Quechua nor Spanish, but typical of the place.

-And the missing percentage?

The remaining 30% depends on geography. Obviously, in the Chincha area they have more components of African mixing, while in the northern area there is also a lot of Asian component, as is the case in my case.

-Then the percentage also varies depending on the area

For example, in Lima the percentage of indigenous ancestry is close to 65%, more or less, so we see that we are not so different from the rest of the country, because in reality for the last 70 years Lima has been Peru, literally, and 95% of Peruvians who live in the regions have a relative from Lima.

There are also rural areas, in Loreto and in the Andes, where the level of indigenous ancestry is higher. Additionally, there are places where there is a perhaps unexpected percentage, such as some areas of Cajamarca where we see European ancestry is high, where compared to the average 70% they only have 60%, 50% or even 30%, which gives a genetic explanation to this imaginary that we have of the tall Cajamarcan, with light and ‘white’ eyes.

Dr. Ricardo Fujita, director of the Research Institute and expert at the Genetics and Molecular Biology Research Center of the Faculty of Human Medicine of the San Martín de Porres University (USMP).

/ GDLFA

-Then we are finding what is called a ‘melting pot of races and cultures’

A melting pot where its base is the indigenous population. If we see a map of the prehistory and history of South America, we find that the region began to be populated since the year 13,000 BC and with the passage of millennia the population began to concentrate in an area that is now part of the small north of Peru. As it grew, until the last 500 years, the majority of South Americans lived in the territory of Tahuantinsuyo, with 2/3 of the population living in an area that was around 1/7 of the entire subcontinent.

Then, historical issues that we already know such as the conquest and the change from the Inca Empire to the colony modified the panorama. Another important and sometimes ignored factor was the infections that, it is estimated, killed 9 out of every 10 people between the years 1532 and 1632. The populations that survived were those that were most concentrated and were most resilient, leaving the countries Andean regions such as Peru, Ecuador, Bolivia, northern Chile and Argentina, as well as southern Colombia.

-Why is Peruvian genetic research important?

Peruvians are part of the 80% of the world’s population that has not been studied properly. Most of the things that are learned in Medicine, Biology and Anthropology books have generally been developed by the so-called first world countries and most of these texts have been written by Europeans or descendants of Europeans. So, what we have realized is that what has been studied from these Eurocentric references, for example medicines and responses to infections, does not respond in exactly the same way when it comes to other populations.

For example, in the human genome project – considered the paradigm of genetic study – 18 of the 23 people whose genes were studied were European, while the rest were African Americans, one or two Asians and finally two people who were identified as ‘Latinos’. ‘. But for genetics, there is no worse definition than this word, because the Peruvian Latino can describe me, Ricardo Fujita, you, Juan Luis del Campo, and also someone like Jefferson Farfán.

-Continuing with this line, a few years ago you participated as a geneticist in the first scientific study of Duchenne muscular dystrophy (DMD) with Peruvian patients. How did this research benefit patients with this rare genetic disease?

In genetics we also investigate rare diseases where this rare condition called Duchenne muscular dystrophy comes in, which is caused, in most cases by the lack of a piece of gene in the patients, and, in fewer cases, because there is a change in ‘letter’ in the genes that change the meaning of everything. Among the benefits of investigating these diseases is first that it helps with diagnosis, which for a parent is the difference of day and night knowing what their children’s illness is down to a molecular level. In addition to that, in many of these types of diseases and in the case of DMD, medications are being developed that are showing positive results within populations, but in order to prescribe them it is important to know where the error is at a genetic level.

MGI Tech has provided the USMP Genetics and Molecular Biology Research Center laboratory with a DNBSEQ-G400RS sequencer, an MGISP-100 automated library preparation system, and a MEGABOLT bioinformatics accelerator.

/ Studio Imagine

-Taking into account what has already been studied. Do we know what the prevalent diseases are in Peru?

What we know in the case of rare diseases is that, as their name indicates, they have a low prevalence, although the proportion we see in Peru is not necessarily the same as elsewhere. The second thing is that, returning to the example of DMD, is that although many of these genetic mutations have been detected in other countries, most of the changes that we find in Peru are new and autochthonous, for the same reason that they are from an understudied population. We found this not only in Duchenne muscular dystrophy, but also studying cases of “butterfly children” in which 26 of the 50 cases were completely new genetic changes, not written about before in science. The same with Marfan syndrome or hereditary blindness, which are caused by mutations that have not been previously published in the world and that we can now study thanks to this sequencing technology, which allows us to read, letter by letter, the alphabet of our genetic instructions.

-In that regard, how will the machines enabled with next-generation genomic sequencing technology that you received from MGI help the study of genetics in Peru?

It’s day and night. In genetics there is a technology called sequencing, which consists of finding a gene and comparing samples from a normal person and a patient, which may allow us to see the cause of the disease. This is nice when it comes to a single gene for a single disease, but some conditions like retinitis pigmentosa have almost up to 80 genes to check, making the task humanly impossible considering that checking a single gene is the equivalent of finding a spelling mistake in a book the size of the Bible.

The new technology, which is called MGS or Next Generation Sequencing and has been in use for around 15 years, is no longer reading the gene letter by letter to find the error, but instead , continuing with the metaphor, gives you the errata, indicating the exact position of the error. It is a technology that we began to use in our laboratory about a decade ago, sending samples to Korea, China and the United States, but it was not present in South America. Recently the company MGI offered to work with the University of San Martín because we are a reference in issues of rare diseases and cancer using genetics.

-From my position of ignorance, it sounds a bit like the artificial intelligence models that have become so popular now.

There is a part of artificial intelligence, because for our work we obviously do not use paper pencil or Excel, but rather a discipline known as bioinformatics in which we work with databases that have references of healthy and diseased genomes. So many programs with ‘machine learning’ are used that allow us to work with both data and filter the things that interest us.

-What do you think of these commercial genetic tests that have become popular in recent years? Do they present relevant information for their users?

I think so. Two things must be determined. There are different companies like 23andMe that offer them and as I told you at the beginning, there are certain characteristics that are characteristic of the European, Asian and African continent. So if I take the test, you will probably find that I am 50% Asian and 30% Cajamarcan or thereabouts and that information will be useful to you and up to that point I accept it. But there are other companies that tell you that you have a chance of having cancer or Alzheimer’s and you have to take that with a grain of salt.

By Editor

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